Variant report for hu566AA7
- Data source: CGI sample: GS03274-DNA_H01
- This report: evidence.pgp-hms.org/genomes?d7a63ea718a7312a6bd2f86d40b5a9d32a072155
- Person ID: hu566AA7
- public profile: my.pgp-hms.org/profile/hu566AA7
- Download: source data, dbSNP and nsSNP report (109 MB)
- Processing status: processing
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Log file:
| Row number | Variant | Clinical Importance | Evidence | Impact | Allele freq | Summary | Sufficient |
|---|---|---|---|---|---|---|---|
| 1 | SERPINA1-E288V | Low | Well-established | Well-established pathogenic Recessive, Carrier (Heterozygous) | 0.0304889 | This variant represents the PiS variant in alpha-1-antitrypsin deficiency where a homozygous individual has 60% enzymatic activity. This variant alone is unlikely to much effect, but 3-4% of heterozygotes are compound heterozygous with the more severe PiZ variant, which is associated with an increased risk of emphysema and COPD. | 1 |
| 2 | MBL2-G54D | Low | Likely | Likely pathogenic Recessive, Carrier (Heterozygous) | 0.103923 | This variant is associated with mannose binding protein deficiency which leads to impaired complement system immune response to mannose-rich pathogens. Patients homozygous for this allele or compound heterozygous are likely to have increased susceptibility to infection, but Hellemann et al. report heterosis for intensive care outcomes in heterozygous subjects. The wild-type version of this gene is known as variant allele A, while this is called variant allele B. See R52C (variant D) and G57E (variant C). | 1 |
| 3 | MTRR-I49M | Low | Likely | Likely pathogenic Recessive, Carrier (Heterozygous) | 0.451199 | This common variant (HapMap allele frequency of 31.3%) in a protein involved in folate (B9) and cobalamin (B12) metabolism and is often reported as "MTRR I22M" (an alternative transcript position). Mothers homozygous for this variant are associated with having around a increased chance of a child with Down syndrome (risk of 0.4%, average risk in population is 0.25%). Notably, age plays a far larger role in the rate of Down syndrome (risk is 4.5% for a mother 45-years-of-age), and it is unknown how this variant may combine with the effect of age. There are conflicting reports associating this variant with incidence of neural tube defects, possibly when combined with MTHFR A222V. | 1 |
| 4 | ERCC6-R1213G | Low | Uncertain | Uncertain pathogenic Recessive, Homozygous | 0.196877 | When homozygous, this variant may cause Cockayne Syndrome, which is a severe autosomal-recessive disorder characterized by abnormal early growth and development, abnormal sensitivity to sunlight, and premature aging. Cockayne Syndrome Type I and Type II lead to death in early childhood. Several other variants in the ERCC6 gene are linked to Cockayne Syndrome. This variant may also be linked to age-related macular degeneration like other ERCC6 variants, and has been linked to colorectal cancer in one study. | 1 |
| 5 | TGFB1-R25P | Low | Uncertain | Uncertain pathogenic Complex/Other, Heterozygous | 0.0488858 | This variant in a growth factor gene is associated with variation in TGFB1 levels; this has been associated with various pathogenic and some protective effects, including: more hepatic fibrosis progression in hep C patients, lower risk of cleft palate, anticorrelation with longevity, higher risk of myocardial infarction and lower risk of hypertension. | 1 |
| 6 | TGIF1-P83Shift | Low | Uncertain | Uncertain pathogenic Complex/Other, Heterozygous | 0.138889 | Severe variants in this gene are associated with holoprosencephaly disorders when combined with loss-of-function variants in SHH. Haploinsufficiency was identified in some families with this condition. It is unclear how likely this variant is to occur in combination with an SHH variant, or what phenotypic effect the variant would have on its own. | 1 |
| 7 | RNASEL-R462Q | Low | Uncertain | Uncertain pathogenic Complex/Other, Heterozygous | 0.278026 | Associated with increased risk of prostate cancer in individuals who already have a family history of prostate cancer, but studies have been unable to replicate this finding in sporadic (non-familial) prostate cancer cases. | 1 |
| 8 | ELAC2-S217L | Low | Uncertain | Uncertain pathogenic Complex/Other, Homozygous | 0.273471 | Reported to be associated with increased susceptibility to prostate cancer, but later studies weaken the hypothesis. Xu et al.'s meta-analysis concludes that there is a small but significant increased risk (OR = 1.13). Assuming a lifetime risk of 16% for prostate cancer we calculate this leads to an increased risk of ~1.5% (17.5% total). | 1 |
| 9 | WFS1-R611H | Low | Uncertain | Uncertain not reviewed Recessive, Carrier (Heterozygous) | 0.400446 | This nonsynonymous SNP is associated with Wolfram Syndrome (known as DIDMOAD), which is characterized by early-onset non-autoimmune diabetes mellitus, diabetes insipidus, optic atrophy, and deafness) and to adult Type Two Diabetes Mellitus. The WFS1 gene maps to chromosome 4p16.3. The variant has been shown to be statistically associated with type II diabetes in six UK studies and one study of Ashkenazi Jews (Sandhu, M., et al., Minton et al.). | 1 |
| 10 | TP53-P72R | Low | Uncertain | Uncertain pathogenic Unknown, Homozygous | 0.627743 | This is a common variant was first reported as a polymorphism. It has since had mixed associations with cancer: Storey et al. conclude a 7x *increased* risk of HPV cancer for homozygotes vs hets, but Jones et al. find a 1.98x *decreased* risk for colorectal cancer. This variant may have significant impact on particular cancers, but it is unclear what effect it has on the overall burden of cancer. | 1 |
| 11 | BRCA2-N372H | Low | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | 0.23656 | This is a common variant of BRCA2 (HapMap allele frequency of 23%). The variant is weakly associated with an increased chance of breast cancer, and zygosity of the variant is associated with sex of children: male children are more likely to be homozygous for this variant, female children are more likely to be heterozygous. | 1 |
| 12 | DHTKD1-G729R | Low | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | Danhauser et al. 2012 reported two individuals with aminoadipic aciduria, where this variant was found compound heterozygously in both. Although this variant's allele frequency is relatively high, it could be consistent with the proposed effect (recessive, and often asymptomatic). Additionally, the authors reported that the molecular cause of this metabolic issue was unknown as of their 2012 report, and there is no subsequent literature regarding this disease that confirms or contradicts their report. | 1 | |
| 13 | SP110-L425S | Low | Uncertain | Uncertain pathogenic Unknown, Homozygous | 0.863357 | This variant is associated with a slightly increased risk of tuberculosis. It is unclear whether it is itself causal, or in linkage disequilibrium with some other causal variant that has a stronger effect. | 1 |
| 14 | FUT2-W154X | Moderate | Well-established | Well-established protective Recessive, Homozygous | 0.490519 | This recessive protective variant confers resistance to norovirus (which causes stomach flu). 20% of Caucasians and Africans are homozygous for this variant and are "non-secretors": they do not express ABO blood type antigens in their saliva or mucosal surfaces. Most strains of norovirus bind to these antigens in the gut, and so this non-secretor status confers almost total resistantance to most types of norovirus. There are notable exceptions, some strains of norovirus bind a different target and are equally infectious for secretors and non-secretors. | 1 |
| 15 | CASP10-V410I | Low | Likely | Likely protective Dominant, Heterozygous | 0.0474066 | Reported to have a protective effect on breast cancer. If the lifetime risk of breast cancer is 12%, women with this variant may have a lower risk of 8-9% (30% less than average). | 1 |
| 16 | KCNJ11-K23E | Low | Likely | Likely protective Unknown, Homozygous | 0.738148 | This variant is associated with decreased risk of type 2 diabetes. It is unclear whether this variant has additive effects, or acts in a dominant or recessive manner. Assuming diabetes has a lifetime risk of 36%, we estimate a decreased risk of around 1-2% per copy of this variant. | 1 |
| 17 | NEFL-S472Shift | Low | Likely | Likely benign Unknown, Homozygous | Although a frameshift in this gene would be predicted to cause Charcot-Marie Neuropathy, this particular position appears to reflect a single base insertion error/mutation in the reference genome (in other words, normal individuals are always homozygous for a deletion at this position relative to reference). See chr8:24,811,060-24,811,080 annotations on UCSC. | 1 | |
| 18 | EFHC1-R182H | Low | Likely | Likely benign Unknown, Heterozygous | 0.0439673 | Probably benign. OMIM appears to incorrectly interpret literature as linking this variant to juvenile myoclonic epilepsy; the authors report it as a polymorphism. | 1 |
| 19 | OCA2-R419Q | Low | Likely | Likely benign Unknown, Heterozygous | 0.0565161 | This variant is associated with eye color, as is OCA2 R305W. Individuals with this variant are reported to be more likely to have green/hazel eyes as opposed to blue/gray eyes. Other variants in this gene are associated with oculocutaneous albinism (albinism which involves skin and eyes). | 1 |
| 20 | TGM1-V518M | Low | Likely | Likely benign Unknown, Heterozygous | 0.0113425 | Probably a non-pathogenic polymorphism. It was initially thought to be involved in autosomal recessive congenital ichthyosis, but later authors found the variant in numerous healthy controls. | 1 |
| 21 | CACNA1S-L458H | Low | Likely | Likely benign Unknown, Heterozygous | 0.27282 | Common polymorphism | 1 |
| 22 | MLH1-I219V | Low | Uncertain | Uncertain benign Dominant, Heterozygous | 0.239822 | Computational evidence, functional assays, and case/control studies suggest this variant is probably benign. | 1 |
| 23 | RPGRIP1-A547S | Low | Uncertain | Uncertain benign Complex/Other, Heterozygous | 0.232202 | Probably benign. Implicated in causing autosomal recessive cone-rod dystrophy, but a later report found the same incidence in controls and concludes it is not causal. | 1 |
| 24 | GAA-E689K | Low | Uncertain | Uncertain benign Complex/Other, Heterozygous | 0.0301845 | This is also known as the GAA*4 allozyme is frequent in the Asian population and appears to have somewhat reduced enzyme activity. Kroos et al. rule out pathogenic effect. | 1 |
| 25 | GALT-N314D | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0716676 | This variant has an allele frequency of ~8% and is ancestral to "Duarte" / "Duarte 2" and "Duarte 1"/"Los Angeles" galactosemia variants. This variant is evolutionarily ancestral, and in vitro studies fail to support an impact of this variant on enzyme activity. Carney et al. instead implicate a 4 base deletion on the 5' of the GALT gene as being causal and linked to this variant. Galactosemia is typically screened and detected in infants and causes early, severe but nonspecific symptoms (digestive problems, lethargy, failure to thrive). | 1 |
| 26 | FLG-R3530S | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.108849 | Tentatively classified as benign, although predicted by Polyphen 2 to be damaging. Other more severe null mutations (frameshift and nonsense) in this gene are reported to cause ichthyosis vulgaris in a recessive manner. | 1 |
| 27 | MAPT-R370W | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.155549 | Probably benign. | 1 |
| 28 | APOB-Y1422C | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.999628 | This position is almost certainly an error in the HG18 reference sequence. | 1 |
| 29 | GAA-D91N | Low | Uncertain | Uncertain benign Recessive, Carrier (Heterozygous) | 0.0237033 | This is a rare but non-pathogenic coding polymorphism in GAA that creates variant allozyme, known as GAA*2. | 1 |
| 30 | PTCH1-P1315L | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.29631 | Common polymorphism, presumed benign. | 1 |
| 31 | RP1-N985Y | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.348671 | Probably benign. One report linked this variant to high triglycerides, but a later paper found a nearby SNP with similar association and suggests that both findings are caused by linkage to an undiscovered causal variant. | 1 |
| 32 | SLC45A2-L374F | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.691764 | Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma. | 1 |
| 33 | ABCC11-G180R | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0976947 | This variant is associated with dry type ear wax (a benign trait) in a recessive manner. | 1 |
| 34 | TPCN2-G734E | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.286166 | Pigmentation allele. | 1 |
| 35 | FANCA-S1088F | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0584681 | Probably benign. One report hypothesized this variant causing Fanconi Anemia, but the allele frequency (3-7%) is high enough to contradict a highly penetrant pathogenic effect. Later authors have concluded this is a polymorphism, not pathogenic. | 1 |
| 36 | UNC13D-A59T | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0171965 | Probably benign. This variant was reported to cause haemophagocytic lymphohistiocytosis in a recessive manner, but its allele frequency is inconsistent with this hypothesis and so we evaluate it as a nonpathogenic polymorphism. | 1 |
| 37 | PCSK9-G670E | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.888269 | This variant is likely benign. | 1 |
| Row number | Variant | Prioritization score | Allele freq | Num of articles | Zygosity and Prioritization Score Reasons | Sufficient |
|---|
Exome coverage: 32392094 / 33282720 = 97.32%
| Row number | Gene | Chromosome | Coverage | Missing | Length | Missing regions |
|---|---|---|---|---|---|---|
| 1 | AGRN | 1 | 0.71440208536983 | 1753 | 6138 | 955553-955753, 957596, 957608-957677, 957688-957714, 957770, 957801-957815, 957825-957842, 970657-970660, 970664, 970686-970704, 976045-976059, 976083-976090, 976106-976121, 976150-976184, 976200-976260, 976555-976660, 976684-976693, 976718-976753, 976864-976865, 976876, 976932-976936, 976985-976995, 977064, 977071-977082, 977423-977424, 977486-977487, 977491-977492, 977540-977541, 978776, 978779-978781, 978791, 978794, 978994-979001, 979071-979096, 979320, 979352-979357, 979374, 979379, 980601-980603, 980606, 980610-980616, 980788, 980804, 981345, 981349, 981627-981628, 981777-981778, 981832-981836, 981888-981915, 981923-981933, 981937-981945, 981951, 981954, 981957-981960, 982027-982039, 982092, 982098, 982112, 982200-982238, 982251-982291, 982318-982337, 982722-982745, 983049-983055, 983164-983172, 983176-983177, 983181-983183, 983209-983222, 983244-983268, 983402-983432, 983476-983495, 983541-983745, 984247-984255, 984260-984266, 984295-984319, 984338-984387, 984411-984417, 984424-984439, 984618-984623, 984627, 984632-984634, 984668, 984688, 984694-984704, 984710, 984723-984740, 984754-984757, 984761-984763, 984777, 984796-984805, 985003, 985073-985075, 985127-985128, 985131-985151, 985327, 985331-985364, 985852-985893, 986126-986153, 986202, 986681-986682, 986709-986719, 986725-986749, 986837-986899, 986921, 986956-986960, 987108-987116, 987121-987122, 987127, 987131, 987142-987143, 987171-987179, 989217, 989828-989844, 989863, 989895-989915, 990305-990309, 990339, 990353, 990358 |
| 2 | GABRD | 1 | 0.88668138337013 | 154 | 1359 | 1950863-1950930, 1960550-1960558, 1960592-1960638, 1961003-1961007, 1961453-1961467, 1961513-1961514, 1961679, 1961682-1961688 |
| 3 | PEX10 | 1 | 0.90214067278287 | 96 | 981 | 2337947-2337954, 2343830-2343914, 2343925, 2343940-2343941 |
| 4 | NPHP4 | 1 | 0.96823172156038 | 136 | 4281 | 6038330-6038375, 6038384-6038473 |
| 5 | ESPN | 1 | 0.91189083820663 | 226 | 2565 | 6485026, 6485084-6485113, 6485140, 6485161-6485174, 6485218, 6485285-6485291, 6488378-6488392, 6488426-6488432, 6500386-6500392, 6500449-6500488, 6500784-6500786, 6500835-6500868, 6505850-6505854, 6508882-6508888, 6508976-6508982, 6509054-6509086, 6509100-6509106, 6512127-6512133 |
| 6 | PLEKHG5 | 1 | 0.9956099090624 | 14 | 3189 | 6533416-6533419, 6534575-6534576, 6535530-6535533, 6557380-6557383 |
| 7 | KIF1B | 1 | 0.9983060417843 | 9 | 5313 | 10425285-10425293 |
| 8 | PEX14 | 1 | 0.99029982363316 | 11 | 1134 | 10684448, 10689724, 10689727, 10690028-10690034, 10690040 |
| 9 | TARDBP | 1 | 0.97831325301205 | 27 | 1245 | 11082356-11082362, 11082519-11082538 |
| 10 | MASP2 | 1 | 0.73799126637555 | 540 | 2061 | 11094885-11094895, 11097836-11097837, 11097841-11097844, 11102953-11102997, 11103011-11103028, 11103050-11103079, 11103396-11103446, 11103461-11103544, 11103565-11103569, 11103577, 11105487-11105518, 11105528-11105596, 11106613-11106622, 11106635-11106693, 11106723, 11106740-11106750, 11106755-11106785, 11106962, 11106974-11106977, 11106992-11106993, 11106998-11106999, 11107015, 11107045-11107065, 11107070, 11107083, 11107114, 11107125, 11107137-11107176, 11107264 |
| 11 | PLOD1 | 1 | 0.99313186813187 | 15 | 2184 | 12024232-12024236, 12030818-12030827 |
| 12 | CLCNKA | 1 | 0.9515503875969 | 100 | 2064 | 16354391-16354397, 16356956-16356991, 16357024-16357057, 16357105, 16357121, 16357124, 16358268-16358274, 16360141-16360153 |
| 13 | CLCNKB | 1 | 0.92877906976744 | 147 | 2064 | 16373044-16373050, 16377376, 16378205-16378208, 16378215, 16378278, 16378722-16378781, 16378791, 16378902, 16380134-16380157, 16380196, 16380200, 16380209, 16380243, 16380252, 16380267, 16382170-16382180, 16382917-16382939, 16383399-16383405 |
| 14 | ATP13A2 | 1 | 0.99774202653119 | 8 | 3543 | 17338226-17338233 |
| 15 | ALDH4A1 | 1 | 0.99763593380615 | 4 | 1692 | 19228976-19228979 |
| 16 | PINK1 | 1 | 0.95761741122566 | 74 | 1746 | 20960084, 20960114-20960117, 20960155, 20960175-20960208, 20960245-20960277, 20960312 |
| 17 | HSPG2 | 1 | 0.99514268366727 | 64 | 13176 | 22199528, 22263648-22263710 |
| 18 | WNT4 | 1 | 0.92708333333333 | 77 | 1056 | 22469339-22469415 |
| 19 | FUCA1 | 1 | 0.99785867237687 | 3 | 1401 | 24194650-24194652 |
| 20 | LDLRAP1 | 1 | 0.99892125134844 | 1 | 927 | 25870277 |
| 21 | SEPN1 | 1 | 0.90347721822542 | 161 | 1668 | 26126722-26126850, 26126866, 26126874-26126904 |
| 22 | KCNQ4 | 1 | 0.90852490421456 | 191 | 2088 | 41249766-41249889, 41249902-41249908, 41249925-41249954, 41249961-41249973, 41249984-41249996, 41249999-41250000, 41250077-41250078 |
| 23 | PCSK9 | 1 | 0.998075998076 | 4 | 2079 | 55521695, 55521698-55521700 |
| 24 | LEPR | 1 | 0.99971412235563 | 1 | 3498 | 66058435 |
| 25 | COL11A1 | 1 | 0.9912039582188 | 48 | 5457 | 103364255-103364284, 103364288, 103377766-103377768, 103380301-103380314 |
| 26 | GSTM1 | 1 | 0.69710806697108 | 199 | 657 | 110230506-110230528, 110230854, 110231302, 110231691, 110231714, 110231721, 110231724-110231726, 110231850, 110231874, 110231886-110231947, 110232908-110232910, 110232983, 110233076-110233131, 110233138, 110233152-110233186, 110235877, 110235882, 110235886-110235888, 110235892-110235894 |
| 27 | NOTCH2 | 1 | 0.986380798274 | 101 | 7416 | 120539668, 120539687, 120539691, 120539711, 120539778-120539784, 120539916, 120547962-120547968, 120548025, 120548051, 120548055, 120548091-120548097, 120572544-120572575, 120611960, 120611964, 120611983-120612020 |
| 28 | FLG | 1 | 0.92401116034794 | 926 | 12186 | 152276441-152276447, 152276583, 152276616, 152276626-152276628, 152276696-152276702, 152276848, 152276855, 152276865, 152276871, 152276889, 152277011-152277058, 152277149-152277171, 152277333-152277348, 152277396, 152277445-152277473, 152277520, 152277528, 152277668-152277674, 152277693-152277720, 152277881-152277887, 152277963-152278000, 152278044-152278052, 152278083-152278096, 152278400-152278437, 152278552-152278558, 152278640-152278646, 152278689, 152278853-152278859, 152279055-152279068, 152279219, 152279372-152279410, 152279524-152279530, 152279615, 152279718-152279763, 152279841, 152279889-152279924, 152280029-152280040, 152280151-152280184, 152280262-152280268, 152280347, 152280372, 152280468-152280474, 152280570-152280617, 152280733-152280762, 152280864, 152280900, 152281007-152281008, 152281039, 152281287-152281307, 152281577-152281578, 152281581, 152281818-152281842, 152281872-152281880, 152282091-152282120, 152282311, 152282622-152282632, 152283430, 152283970-152283978, 152284032-152284054, 152284149-152284175, 152284205-152284241, 152284374-152284380, 152284572-152284579, 152284646-152284694, 152284803-152284817, 152285099, 152285185-152285199, 152285574-152285607, 152285984, 152286367, 152287033-152287034 |
| 29 | GBA | 1 | 0.99916457811195 | 1 | 1197 | 155186742 |
| 30 | GBA | 1 | 0.98137802607076 | 30 | 1611 | 155207980-155208009 |
| 31 | PKLR | 1 | 0.9936231884058 | 11 | 1725 | 155269975-155269985 |
| 32 | F5 | 1 | 0.99940074906367 | 4 | 6675 | 169510380, 169510502, 169510515, 169510524 |
| 33 | DARS2 | 1 | 0.9953560371517 | 9 | 1938 | 173810102-173810110 |
| 34 | ASPM | 1 | 0.99923327582902 | 8 | 10434 | 197115476, 197115487-197115492, 197115544 |
| 35 | ADCK3 | 1 | 0.98611111111111 | 27 | 1944 | 227169786-227169812 |
| 36 | GJC2 | 1 | 0.28484848484848 | 944 | 1320 | 228345493-228345515, 228345523, 228345552-228345565, 228345570-228345574, 228345617-228345635, 228345644-228345705, 228345716-228345727, 228345730-228345733, 228345746-228345791, 228345816-228345841, 228345849-228345953, 228345961-228345962, 228345967-228345968, 228345979-228346165, 228346173-228346187, 228346197-228346198, 228346207, 228346214-228346220, 228346224-228346251, 228346263-228346268, 228346280-228346492, 228346509-228346558, 228346609-228346622, 228346625, 228346628, 228346633, 228346639-228346641, 228346648-228346649, 228346664-228346686, 228346705-228346769, 228346776-228346779 |
| 37 | ACTA1 | 1 | 0.99911816578483 | 1 | 1134 | 229568044 |
| 38 | MTR | 1 | 0.99973670352817 | 1 | 3798 | 237038026 |
| 39 | RYR2 | 1 | 0.99993290391841 | 1 | 14904 | 237632464 |
| 40 | CUBN | 10 | 0.99935614422369 | 7 | 10872 | 16970179-16970185 |
| 41 | PTF1A | 10 | 0.94022289766971 | 59 | 987 | 23481678-23481683, 23481717, 23481720-23481744, 23481747-23481748, 23481775-23481776, 23481793-23481809, 23481974-23481979 |
| 42 | RET | 10 | 0.98146487294469 | 62 | 3345 | 43572707-43572768 |
| 43 | CDH23 | 10 | 0.99830946698488 | 17 | 10056 | 73461951, 73461954-73461968, 73464885 |
| 44 | BMPR1A | 10 | 0.99374609130707 | 10 | 1599 | 88683143-88683149, 88683474-88683476 |
| 45 | GLUD1 | 10 | 0.99105545617174 | 15 | 1677 | 88854480-88854494 |
| 46 | PDE6C | 10 | 0.99961195188203 | 1 | 2577 | 95372764 |
| 47 | SUFU | 10 | 0.99381443298969 | 9 | 1455 | 104263992-104264000 |
| 48 | BAG3 | 10 | 0.99305555555556 | 12 | 1728 | 121436343, 121436436-121436446 |
| 49 | HTRA1 | 10 | 0.90921690921691 | 131 | 1443 | 124221169-124221285, 124221293-124221299, 124221331-124221336, 124221387 |
| 50 | ACADSB | 10 | 0.99846035411855 | 2 | 1299 | 124810701-124810702 |
| 51 | HRAS | 11 | 0.9280701754386 | 41 | 570 | 532659, 532662, 532684, 532701, 532748-532755, 533453-533475, 533503-533505, 533794, 533874, 534242 |
| 52 | TALDO1 | 11 | 0.99901380670611 | 1 | 1014 | 763344 |
| 53 | SLC25A22 | 11 | 0.96296296296296 | 36 | 972 | 791940-791944, 792055, 792634-792642, 792676-792677, 792884-792902 |
| 54 | PNPLA2 | 11 | 0.93069306930693 | 105 | 1515 | 819719-819724, 819769-819786, 819799-819843, 819848-819850, 819854, 819864-819885, 823998-824007 |
| 55 | CTSD | 11 | 0.88135593220339 | 147 | 1239 | 1775074, 1775125, 1775131, 1775224-1775239, 1775249, 1775270, 1775276, 1775331-1775333, 1775336, 1775345-1775368, 1778598-1778599, 1778602, 1778671, 1780253-1780258, 1782643-1782661, 1785022-1785089 |
| 56 | TNNT3 | 11 | 0.62290862290862 | 293 | 777 | 1954982, 1954997-1954999, 1955018-1955026, 1955051-1955065, 1955177, 1955184-1955238, 1955562-1955567, 1955596-1955598, 1955606, 1955613-1955675, 1955792, 1955869-1955875, 1956105-1956149, 1958193-1958226, 1959668-1959716 |
| 57 | IGF2 | 11 | 0.65822784810127 | 243 | 711 | 2154217-2154236, 2154247-2154256, 2154312-2154379, 2154389, 2154394-2154412, 2154441-2154445, 2154754-2154802, 2156599-2156606, 2156668-2156680, 2156716, 2156729, 2161365-2161382, 2161390-2161400, 2161434-2161436, 2161440-2161444, 2161488-2161498 |
| 58 | TH | 11 | 0.83746031746032 | 256 | 1575 | 2185502-2185509, 2185533, 2185549, 2186559, 2186565-2186595, 2186966-2186973, 2187282-2187288, 2187715-2187716, 2187724-2187727, 2187737-2187779, 2187869, 2187878-2187879, 2187896-2187942, 2187950-2187998, 2188119, 2188132-2188134, 2188160, 2188170, 2188177, 2188190, 2188206, 2188210-2188227, 2188242, 2188257, 2188262, 2189734, 2189737-2189741, 2190951, 2191029-2191033, 2191936, 2191947-2191949, 2191953, 2191964-2191967 |
| 59 | KCNQ1 | 11 | 0.85967503692762 | 285 | 2031 | 2466329-2466474, 2466542-2466608, 2466611-2466612, 2466627-2466630, 2466634-2466696, 2466699-2466701 |
| 60 | CDKN1C | 11 | 0.39852786540484 | 572 | 951 | 2905329-2905330, 2905901-2905909, 2905927-2906280, 2906307-2906366, 2906391, 2906401-2906459, 2906466-2906474, 2906491-2906529, 2906584-2906622 |
| 61 | HBD | 11 | 0.98423423423423 | 7 | 444 | 5255652-5255658 |
| 62 | SMPD1 | 11 | 0.99630801687764 | 7 | 1896 | 6411935-6411941 |
| 63 | ABCC8 | 11 | 0.99894648124737 | 5 | 4746 | 17498305-17498309 |
| 64 | PAX6 | 11 | 0.99527186761229 | 6 | 1269 | 31811482-31811487 |
| 65 | WT1 | 11 | 0.98069498069498 | 30 | 1554 | 32456645-32456666, 32456694, 32456708-32456714 |
| 66 | PEX16 | 11 | 0.99903938520653 | 1 | 1041 | 45939266 |
| 67 | F2 | 11 | 0.99785981808454 | 4 | 1869 | 46748057-46748060 |
| 68 | MYBPC3 | 11 | 0.98849673202614 | 44 | 3825 | 47371449, 47371591-47371631, 47372905, 47373009 |
| 69 | SLC39A13 | 11 | 0.98297491039427 | 19 | 1116 | 47436839-47436857 |
| 70 | SLC22A12 | 11 | 0.98315282791817 | 28 | 1662 | 64367163-64367169, 64367226-64367233, 64367266-64367276, 64367324-64367325 |
| 71 | BBS1 | 11 | 0.99943883277217 | 1 | 1782 | 66291271 |
| 72 | PC | 11 | 0.98840825558383 | 41 | 3537 | 66617746, 66620011, 66620036-66620064, 66620123-66620131, 66638900 |
| 73 | AIP | 11 | 0.73716012084592 | 261 | 993 | 67256789, 67256800-67256818, 67257509-67257515, 67257542-67257552, 67257558, 67257574, 67257589-67257611, 67257622-67257624, 67257634, 67257662, 67257670-67257685, 67257790-67257864, 67257896-67257928, 67258259-67258302, 67258340-67258345, 67258355, 67258361, 67258379, 67258383, 67258391, 67258430-67258433, 67258436, 67258445-67258448, 67258460-67258464 |
| 74 | TCIRG1 | 11 | 0.99679101484156 | 8 | 2493 | 67811651-67811652, 67816573, 67816581, 67817628-67817631 |
| 75 | LRP5 | 11 | 0.97937293729373 | 100 | 4848 | 68080183-68080273, 68204453, 68216443, 68216519-68216525 |
| 76 | MYO7A | 11 | 0.87244283995187 | 848 | 6648 | 76883846-76883847, 76883900, 76885806-76885831, 76885848-76885950, 76886418-76886441, 76886473-76886479, 76888608-76888625, 76888635-76888639, 76888663-76888689, 76890091-76890175, 76890781-76890999, 76891420-76891448, 76891483-76891527, 76892439, 76892466-76892492, 76892559-76892571, 76892604-76892605, 76892618, 76892633-76892635, 76893001-76893004, 76893032-76893092, 76893130-76893199, 76893469-76893488, 76893536-76893549, 76893623-76893645, 76894156-76894157, 76894190-76894194, 76895722-76895732 |
| 77 | FZD4 | 11 | 0.99008674101611 | 16 | 1614 | 86666083-86666097, 86666102 |
| 78 | RDX | 11 | 0.99942922374429 | 1 | 1752 | 110108289 |
| 79 | CACNA1C | 12 | 0.99908550525834 | 6 | 6561 | 2676773-2676776, 2676894, 2797894 |
| 80 | VWF | 12 | 0.99158967069415 | 71 | 8442 | 6125394-6125398, 6131926-6131932, 6131955-6131982, 6132003-6132033 |
| 81 | KRAS | 12 | 0.97543859649123 | 14 | 570 | 25380256-25380261, 25380283-25380290 |
| 82 | PKP2 | 12 | 0.99880668257757 | 3 | 2514 | 33049628-33049630 |
| 83 | MLL2 | 12 | 0.99909714698447 | 15 | 16614 | 49426906-49426908, 49426919-49426921, 49427044-49427052 |
| 84 | TUBA1A | 12 | 0.92543859649123 | 34 | 456 | 49522210-49522241, 49522578, 49522605 |
| 85 | KRT81 | 12 | 0.9901185770751 | 15 | 1518 | 52681437, 52682999-52683005, 52684950-52684956 |
| 86 | KRT86 | 12 | 0.99452429842574 | 8 | 1461 | 52695997, 52697949-52697955 |
| 87 | KRT6B | 12 | 0.97286135693215 | 46 | 1695 | 52843632-52843637, 52845432-52845449, 52845476-52845482, 52845571-52845577, 52845798-52845805 |
| 88 | KRT6C | 12 | 0.9740412979351 | 44 | 1695 | 52862971-52862977, 52864916-52864922, 52865295-52865300, 52867094, 52867105, 52867135-52867141, 52867230-52867236, 52867457-52867464 |
| 89 | KRT6A | 12 | 0.98525073746313 | 25 | 1695 | 52881632, 52884735, 52886586-52886592, 52886681-52886687, 52886826, 52886908-52886915 |
| 90 | GNS | 12 | 0.99819168173599 | 3 | 1659 | 65141622, 65141671, 65152976 |
| 91 | CEP290 | 12 | 0.99959677419355 | 3 | 7440 | 88472955-88472957 |
| 92 | TMPO | 12 | 0.99184652278177 | 17 | 2085 | 98921668-98921683, 98921716 |
| 93 | TRPV4 | 12 | 0.98165137614679 | 48 | 2616 | 110246224-110246271 |
| 94 | ATXN2 | 12 | 0.83257229832572 | 660 | 3942 | 111957700-111957708, 111957747, 111957750, 112036599-112037168, 112037184-112037228, 112037248-112037277, 112037279-112037281, 112037294 |
| 95 | HNF1A | 12 | 0.99947257383966 | 1 | 1896 | 121435295 |
| 96 | ATP6V0A2 | 12 | 0.99922209257098 | 2 | 2571 | 124242474-124242475 |
| 97 | SACS | 13 | 0.99985443959243 | 2 | 13740 | 23949259-23949260 |
| 98 | B3GALTL | 13 | 0.99599198396794 | 6 | 1497 | 31774255-31774260 |
| 99 | FREM2 | 13 | 0.99705573080967 | 28 | 9510 | 39261556, 39261568-39261570, 39261659-39261673, 39261848, 39262056-39262061, 39266171-39266172 |
| 100 | ATP7B | 13 | 0.99931787175989 | 3 | 4398 | 52523871-52523873 |
| 101 | ZIC2 | 13 | 0.91869918699187 | 130 | 1599 | 100634390-100634414, 100634589-100634597, 100637769-100637864 |
| 102 | PCCA | 13 | 0.99451303155007 | 12 | 2187 | 101101518-101101527, 101101558-101101559 |
| 103 | F7 | 13 | 0.88614232209738 | 152 | 1335 | 113760182-113760188, 113765049-113765057, 113765104-113765105, 113765149-113765155, 113769974-113769978, 113770044-113770050, 113770071, 113770074-113770079, 113771152-113771159, 113772732-113772750, 113772772-113772775, 113772801, 113772806-113772817, 113772844-113772860, 113772894-113772911, 113772947-113772951, 113773061, 113773136-113773137, 113773159, 113773303-113773322 |
| 104 | F10 | 13 | 0.99931833674165 | 1 | 1467 | 113777222 |
| 105 | GRK1 | 13 | 0.9934988179669 | 11 | 1692 | 114322136, 114325948-114325956, 114426078 |
| 106 | PABPN1 | 14 | 0.9457111834962 | 50 | 921 | 23790782-23790801, 23790857, 23790863-23790864, 23790872, 23790875-23790880, 23790911-23790912, 23790930-23790932, 23790947-23790948, 23790967-23790969, 23790974-23790982, 23791029 |
| 107 | NRL | 14 | 0.94257703081232 | 41 | 714 | 24550543-24550547, 24550592-24550620, 24551814-24551816, 24551820-24551823 |
| 108 | TGM1 | 14 | 0.98981255093725 | 25 | 2454 | 24724277-24724301 |
| 109 | FOXG1 | 14 | 0.88027210884354 | 176 | 1470 | 29236536-29236558, 29236646-29236662, 29236666-29236667, 29236686-29236718, 29236742-29236767, 29236784-29236796, 29236802, 29236811, 29236832-29236866, 29236916-29236917, 29236920-29236942 |
| 110 | C14orf104 | 14 | 0.99960222752586 | 1 | 2514 | 50101261 |
| 111 | GCH1 | 14 | 0.94422310756972 | 42 | 753 | 55369215-55369220, 55369223, 55369237-55369271 |
| 112 | SYNE2 | 14 | 0.99995174676703 | 1 | 20724 | 64556365 |
| 113 | ATXN3 | 14 | 0.98158379373849 | 20 | 1086 | 92537298-92537311, 92559650, 92559659-92559662, 92563064 |
| 114 | AMN | 14 | 0.30616740088106 | 945 | 1362 | 103389026-103389028, 103389052-103389068, 103390075-103390099, 103390141-103390160, 103390298-103390316, 103394763-103394790, 103394810-103394824, 103395095-103395125, 103395150-103395159, 103395178-103395264, 103395273, 103395286-103395312, 103395458, 103395488-103395559, 103395570-103395571, 103395583-103395595, 103395765-103395771, 103395832-103395873, 103395992-103396043, 103396046-103396047, 103396049, 103396060-103396074, 103396261-103396264, 103396277-103396283, 103396288-103396360, 103396370-103396403, 103396421-103396423, 103396502-103396664, 103396743-103396772, 103396795-103396830, 103396913-103397017 |
| 115 | INF2 | 14 | 0.8624 | 516 | 3750 | 105167721, 105172401, 105172453-105172455, 105173750-105173803, 105173856-105174129, 105174180-105174222, 105174258-105174326, 105174333-105174339, 105174831-105174834, 105174890-105174909, 105177466-105177474, 105177497-105177513, 105179210, 105179231, 105179262, 105179267, 105179602-105179605, 105179613, 105179845-105179849 |
| 116 | NIPA1 | 15 | 0.82020202020202 | 178 | 990 | 23086234-23086411 |
| 117 | CHST14 | 15 | 0.98850574712644 | 13 | 1131 | 40763424-40763428, 40763455, 40763499-40763504, 40763512 |
| 118 | STRC | 15 | 0.99174174174174 | 44 | 5328 | 43910863-43910906 |
| 119 | HCN4 | 15 | 0.92774086378738 | 261 | 3612 | 73660090, 73660118-73660124, 73660226-73660232, 73660243-73660262, 73660271-73660410, 73660425-73660431, 73660438-73660511, 73660531, 73660559, 73660585, 73660590, 73660593 |
| 120 | PSTPIP1 | 15 | 0.40447641886491 | 745 | 1251 | 77310498-77310502, 77310511-77310514, 77310518, 77310542-77310557, 77310844-77310850, 77317628-77317629, 77317652, 77317846, 77317890, 77317895-77317903, 77317918-77317919, 77317925-77317927, 77320205-77320218, 77320895-77320953, 77320962-77320972, 77320992-77320993, 77322866-77322902, 77322909-77322922, 77323522-77323583, 77323606-77323619, 77324639-77324735, 77325203-77325222, 77325231, 77325254-77325293, 77327849-77327904, 77328143-77328276, 77329386-77329517 |
| 121 | POLG | 15 | 0.99758064516129 | 9 | 3720 | 89876828-89876836 |
| 122 | MESP2 | 15 | 0.94304857621441 | 68 | 1194 | 90320116-90320176, 90320182-90320188 |
| 123 | BLM | 15 | 0.99717912552891 | 12 | 4254 | 91337397, 91337444, 91337536, 91337539-91337547 |
| 124 | IGF1R | 15 | 0.99707602339181 | 12 | 4104 | 99192877, 99192880-99192890 |
| 125 | HBZ | 16 | 0.88811188811189 | 48 | 429 | 203905, 203910, 203932, 203963-203964, 204046-204047, 204063, 204075-204092, 204281-204302 |
| 126 | HBA2 | 16 | 0.94871794871795 | 22 | 429 | 222961-222982 |
| 127 | GNPTG | 16 | 0.99237472766885 | 7 | 918 | 1402301-1402307 |
| 128 | CLCN7 | 16 | 0.84822167080232 | 367 | 2418 | 1496636, 1496669, 1496709-1496718, 1497062-1497065, 1497393-1497394, 1497423-1497450, 1497477-1497480, 1497551-1497559, 1497658-1497701, 1498682-1498690, 1498719-1498748, 1498761, 1498968, 1498999-1499021, 1499046-1499047, 1499060, 1499089-1499093, 1499277-1499296, 1500519, 1500566-1500579, 1500611-1500654, 1501628-1501643, 1502784, 1502837-1502846, 1504412-1504413, 1504461, 1506144-1506146, 1524865-1524944 |
| 129 | IGFALS | 16 | 0.85869565217391 | 273 | 1932 | 1840610, 1840613-1840638, 1840641-1840643, 1840655-1840663, 1840737-1840743, 1840760-1840794, 1840957-1840969, 1841024, 1841062, 1841112-1841157, 1841221-1841262, 1841552-1841557, 1841606-1841623, 1841681, 1841797, 1841938-1841940, 1842209-1842223, 1842246-1842273, 1842285, 1842290-1842295, 1842313-1842316, 1842388-1842390, 1842433, 1842436-1842437 |
| 130 | GFER | 16 | 0.81391585760518 | 115 | 618 | 2034237-2034239, 2034277-2034320, 2034350-2034370, 2034404-2034445, 2034469, 2034474-2034477 |
| 131 | TSC2 | 16 | 0.64122418879056 | 1946 | 5424 | 2098712-2098722, 2103399-2103403, 2106198, 2108769-2108797, 2108819, 2110716, 2110782-2110787, 2113038, 2114371-2114373, 2114376-2114378, 2114382, 2114401-2114411, 2115529-2115552, 2121511-2121554, 2121843-2121845, 2121851-2121860, 2121906-2121908, 2121912-2121914, 2122242-2122247, 2122258, 2124221-2124224, 2124262, 2124301, 2124312-2124315, 2124319, 2124351, 2124367-2124380, 2125812, 2126076, 2126099, 2126146-2126149, 2126503-2126509, 2127634-2127653, 2127698-2127699, 2129040, 2129044, 2129072-2129115, 2129130-2129136, 2129277-2129303, 2129317, 2129342, 2129374, 2129383-2129412, 2129558-2129670, 2130166-2130185, 2130195-2130246, 2130278-2130311, 2130320-2130330, 2130335-2130376, 2131596-2131708, 2131733, 2131748-2131768, 2132461, 2132491-2132505, 2133696-2133735, 2133746-2133817, 2134233-2134368, 2134386-2134443, 2134465-2134678, 2134694-2134716, 2134952-2134960, 2134978-2134982, 2134997-2134998, 2135231-2135323, 2136194-2136209, 2136231-2136261, 2136275-2136279, 2136290-2136361, 2136369-2136380, 2136733-2136757, 2136765-2136786, 2136810-2136834, 2136838-2136843, 2136865-2136872, 2137875-2137879, 2137890-2137924, 2137931, 2137935-2137941, 2138049-2138140, 2138239-2138249, 2138274-2138308, 2138326, 2138447-2138464, 2138473, 2138502-2138602 |
| 132 | PKD1 | 16 | 0.033921933085502 | 12474 | 12912 | 2139728-2139782, 2139788-2139828, 2139836-2140141, 2140154-2140195, 2140290-2140591, 2140679-2140809, 2140885-2141175, 2141424-2141598, 2141785-2141907, 2142048-2142059, 2142065-2142068, 2142080, 2142083-2142132, 2142139-2142169, 2142481-2142492, 2142513-2142518, 2142525-2142588, 2142955-2143002, 2143015-2143032, 2143035-2143042, 2143046, 2143052, 2143060-2143063, 2143547-2143562, 2143573, 2143584-2143585, 2143589-2143595, 2143604-2143669, 2143687-2143730, 2143813-2143814, 2143818-2143826, 2143855-2143901, 2143914-2144014, 2144093-2144095, 2144099-2144103, 2144106-2144189, 2147149-2147242, 2147320-2147342, 2147358-2147504, 2147729-2147739, 2147749-2147781, 2147869-2147985, 2149645-2149771, 2149862-2150072, 2150167-2150310, 2150397-2150567, 2152062-2152257, 2152382-2152634, 2152815-2152971, 2153267-2153896, 2154499-2154643, 2155323-2155475, 2155866-2156025, 2156092-2156305, 2156399-2156678, 2156806-2156949, 2157884-2158033, 2158253-2160331, 2160342-2160368, 2160373-2160381, 2160387, 2160400-2161386, 2161396-2161872, 2162341-2162474, 2162789-2162964, 2163162-2163293, 2164171-2164926, 2165394-2165626, 2165993-2166119, 2166530-2166645, 2166834-2167054, 2167490-2167644, 2167651-2167673, 2167792-2168248, 2168254-2168463, 2168677-2168741, 2168750-2168838, 2169115-2169181, 2169308-2169379, 2185477-2185485, 2185502-2185540, 2185551-2185690 |
| 133 | ABCA3 | 16 | 0.99980449657869 | 1 | 5115 | 2347425 |
| 134 | MEFV | 16 | 0.99872122762148 | 3 | 2346 | 3306390-3306392 |
| 135 | SLX4 | 16 | 0.99981834695731 | 1 | 5505 | 3647887 |
| 136 | CREBBP | 16 | 0.99972711147496 | 2 | 7329 | 3779410, 3779413 |
| 137 | GLIS2 | 16 | 0.3384126984127 | 1042 | 1575 | 4382302, 4382305, 4382380-4382449, 4383361-4383364, 4383368, 4383398, 4383406-4383408, 4383446-4383447, 4383451-4383480, 4383503-4383509, 4384802-4384814, 4384837-4384870, 4384880-4384881, 4384924-4384925, 4384945-4384978, 4385061-4385085, 4385108-4385160, 4385169, 4385180, 4385276-4385369, 4385384-4385394, 4386726-4386849, 4386862-4386882, 4386904-4386924, 4386947-4387021, 4387032-4387106, 4387121-4387144, 4387150-4387263, 4387283-4387301, 4387324-4387486, 4387510-4387525 |
| 138 | ALG1 | 16 | 0.94695340501792 | 74 | 1395 | 5128817, 5128853-5128879, 5131020-5131047, 5134818, 5134866-5134882 |
| 139 | ABCC6 | 16 | 0.96210106382979 | 171 | 4512 | 16259618-16259619, 16259631-16259634, 16259685-16259697, 16259765-16259790, 16263535-16263570, 16263632-16263637, 16263708-16263710, 16267142-16267167, 16267189-16267227, 16269777-16269780, 16269783-16269785, 16269792, 16271357, 16271363, 16271366-16271367, 16271372-16271374, 16271379 |
| 140 | OTOA | 16 | 0.99795321637427 | 7 | 3420 | 21747694-21747700 |
| 141 | CLN3 | 16 | 0.99544419134396 | 6 | 1317 | 28497708-28497713 |
| 142 | PHKG2 | 16 | 0.98689598689599 | 16 | 1221 | 30760142-30760153, 30760175-30760177, 30760197 |
| 143 | PHKB | 16 | 0.99939061547837 | 2 | 3282 | 47732491-47732492 |
| 144 | SALL1 | 16 | 0.99924528301887 | 3 | 3975 | 51175656-51175658 |
| 145 | SLC12A3 | 16 | 0.99709020368574 | 9 | 3093 | 56921929, 56921935-56921942 |
| 146 | CNGB1 | 16 | 0.98748668796592 | 47 | 3756 | 57983266-57983312 |
| 147 | HSD11B2 | 16 | 0.85714285714286 | 174 | 1218 | 67465152-67465324, 67470001 |
| 148 | LCAT | 16 | 0.99470899470899 | 7 | 1323 | 67976978-67976984 |
| 149 | CDH3 | 16 | 0.99437751004016 | 14 | 2490 | 68725781-68725794 |
| 150 | CDH1 | 16 | 0.99848999622499 | 4 | 2649 | 68771337, 68771348-68771350 |
| 151 | COG8 | 16 | 0.97444263186514 | 47 | 1839 | 69364756, 69364774, 69364805-69364808, 69364903-69364904, 69373223-69373240, 69373243-69373248, 69373261-69373273, 69373278, 69373372 |
| 152 | HP | 16 | 0.98116298116298 | 23 | 1221 | 72091292-72091314 |
| 153 | GAN | 16 | 0.99609810479376 | 7 | 1794 | 81348760-81348766 |
| 154 | MLYCD | 16 | 0.95411605937922 | 68 | 1482 | 83932804-83932827, 83932929, 83932984-83932985, 83932988-83932995, 83933007, 83933089-83933120 |
| 155 | FOXF1 | 16 | 0.99824561403509 | 2 | 1140 | 86544210, 86544706 |
| 156 | FOXC2 | 16 | 0.95883134130146 | 62 | 1506 | 86601515, 86601666-86601673, 86601856, 86601859, 86601974-86601994, 86601998-86602002, 86602009-86602018, 86602028-86602033, 86602036-86602043, 86602260 |
| 157 | JPH3 | 16 | 0.98397863818425 | 36 | 2247 | 87636882, 87636886-87636890, 87723425-87723439, 87723575-87723588, 87723883 |
| 158 | CYBA | 16 | 0.8452380952381 | 91 | 588 | 88709761-88709766, 88709792-88709865, 88709879, 88709917-88709922, 88717364-88717366, 88717405 |
| 159 | APRT | 16 | 0.87476979742173 | 68 | 543 | 88876238-88876242, 88876542-88876550, 88876862-88876863, 88876900-88876909, 88876925, 88877962-88877978, 88878228-88878251 |
| 160 | GALNS | 16 | 0.97578075207138 | 38 | 1569 | 88884461-88884476, 88888997-88889005, 88889094-88889097, 88923256-88923264 |
| 161 | SPG7 | 16 | 0.99790619765494 | 5 | 2388 | 89576898, 89623486-89623489 |
| 162 | FANCA | 16 | 0.99107142857143 | 39 | 4368 | 89882955-89882993 |
| 163 | TUBB3 | 16 | 0.97708795269771 | 31 | 1353 | 89989816-89989822, 90001630-90001636, 90002174-90002190 |
| 164 | CHRNE | 17 | 0.9804318488529 | 29 | 1482 | 4802664-4802671, 4802772, 4804424-4804436, 4804471-4804476, 4805601 |
| 165 | PITPNM3 | 17 | 0.97606837606838 | 70 | 2925 | 6358675-6358722, 6459705-6459726 |
| 166 | GUCY2D | 17 | 0.99969806763285 | 1 | 3312 | 7906419 |
| 167 | FLCN | 17 | 0.99195402298851 | 14 | 1740 | 17127285-17127288, 17127425-17127427, 17127433, 17131219, 17131222-17131226 |
| 168 | RAI1 | 17 | 0.99685369690614 | 18 | 5721 | 17697094-17697096, 17697616-17697617, 17698803, 17698810-17698811, 17698825, 17700946-17700947, 17712718, 17712735-17712738, 17713294-17713295 |
| 169 | ATPAF2 | 17 | 0.99195402298851 | 7 | 870 | 17942216-17942222 |
| 170 | MYO15A | 17 | 0.94250920419145 | 609 | 10593 | 18023709-18023713, 18023721-18023723, 18023750-18023757, 18023780-18023782, 18023916-18023918, 18023940-18023942, 18023945-18023947, 18023994-18024066, 18024087-18024168, 18024183-18024310, 18024328-18024374, 18024407, 18024423-18024479, 18024493-18024538, 18024596-18024637, 18024684, 18024695, 18024812-18024840, 18024896-18024919, 18024936, 18025060, 18025073, 18025184, 18025232, 18025381-18025419, 18045399, 18070972-18070976 |
| 171 | UNC119 | 17 | 0.9820193637621 | 13 | 723 | 26879542-26879554 |
| 172 | KRT10 | 17 | 0.99373219373219 | 11 | 1755 | 38975229-38975235, 38975328-38975329, 38978462, 38978536 |
| 173 | KRT14 | 17 | 0.83086680761099 | 240 | 1419 | 39738757-39738763, 39739509-39739547, 39741304-39741309, 39742626-39742658, 39742682, 39742771-39742836, 39742846-39742872, 39742886, 39742894, 39742898-39742899, 39742911, 39742967-39743001, 39743043-39743054, 39743078-39743086 |
| 174 | KRT16 | 17 | 0.94163150492264 | 83 | 1422 | 39766192-39766202, 39766265-39766281, 39768490-39768496, 39768658-39768664, 39768706-39768746 |
| 175 | KRT17 | 17 | 0.95996920708237 | 52 | 1299 | 39776911-39776932, 39777010, 39780348, 39780352, 39780516-39780540, 39780564, 39780761 |
| 176 | STAT5B | 17 | 0.99746192893401 | 6 | 2364 | 40370741-40370746 |
| 177 | NAGLU | 17 | 0.97759856630824 | 50 | 2232 | 40688340, 40688345, 40688348, 40688407-40688409, 40688419, 40688424, 40688502, 40688508-40688509, 40688521-40688559 |
| 178 | ITGA2B | 17 | 0.99166666666667 | 26 | 3120 | 42460966-42460973, 42462919-42462935, 42462940 |
| 179 | PLEKHM1 | 17 | 0.99905392620624 | 3 | 3171 | 43552537, 43552717, 43552921 |
| 180 | TBX4 | 17 | 0.9981684981685 | 3 | 1638 | 59534016-59534018 |
| 181 | ACE | 17 | 0.95460341749554 | 178 | 3921 | 61554456-61554541, 61554552-61554591, 61554612-61554615, 61554640-61554676, 61554700-61554704, 61558537-61558540, 61574569-61574570 |
| 182 | GH1 | 17 | 0.99847094801223 | 1 | 654 | 61994724 |
| 183 | SCN4A | 17 | 0.99909272364362 | 5 | 5511 | 62018219-62018223 |
| 184 | COG1 | 17 | 0.99966021066938 | 1 | 2943 | 71189523 |
| 185 | USH1G | 17 | 0.998556998557 | 2 | 1386 | 72916203, 72916213 |
| 186 | TSEN54 | 17 | 0.91650853889943 | 132 | 1581 | 73512653, 73512676-73512679, 73512827-73512869, 73512898-73512940, 73512966-73512977, 73513090, 73513093-73513110, 73513144-73513152, 73513312 |
| 187 | GALK1 | 17 | 0.99575911789652 | 5 | 1179 | 73754539, 73761214-73761217 |
| 188 | UNC13D | 17 | 0.997861289337 | 7 | 3273 | 73826109-73826113, 73832777, 73840321 |
| 189 | SEPT9 | 17 | 0.96876774559909 | 55 | 1761 | 75494614, 75494641-75494643, 75494653-75494673, 75494690, 75494694-75494722 |
| 190 | GAA | 17 | 0.98600909408884 | 40 | 2859 | 78078696, 78078699-78078712, 78078722-78078729, 78079633-78079641, 78086679-78086680, 78091539, 78091542-78091546 |
| 191 | SGSH | 17 | 0.9973492379059 | 4 | 1509 | 78194082-78194085 |
| 192 | ACTG1 | 17 | 0.99734042553191 | 3 | 1128 | 79478311-79478313 |
| 193 | FSCN2 | 17 | 0.38269100743746 | 913 | 1479 | 79495558-79495581, 79495589-79495609, 79495631, 79495659-79495664, 79495686-79495719, 79495727-79495801, 79495825-79495851, 79495868-79495880, 79495908-79495917, 79495945-79495957, 79495986-79496001, 79496027-79496044, 79496059, 79496082-79496106, 79496148-79496197, 79496296-79496332, 79496370-79496375, 79502097-79502108, 79502112-79502117, 79502157-79502171, 79502206-79502234, 79503172-79503224, 79503247-79503293, 79503648-79503815, 79503901-79504106 |
| 194 | NDUFV2 | 18 | 0.99866666666667 | 1 | 750 | 9117867 |
| 195 | AFG3L2 | 18 | 0.99707602339181 | 7 | 2394 | 12377075-12377081 |
| 196 | LAMA3 | 18 | 0.999600079984 | 4 | 10002 | 21269659-21269661, 21269704 |
| 197 | MYO5B | 18 | 0.99909861186227 | 5 | 5547 | 47721137-47721141 |
| 198 | CCBE1 | 18 | 0.97788697788698 | 27 | 1221 | 57134009-57134029, 57134068-57134073 |
| 199 | TNFRSF11A | 18 | 0.96488384656942 | 65 | 1851 | 59992590-59992654 |
| 200 | CTDP1 | 18 | 0.96119196119196 | 112 | 2886 | 77439967-77440013, 77440026-77440027, 77440030-77440049, 77440062-77440063, 77440070-77440085, 77440153-77440155, 77440165-77440169, 77440196-77440199, 77440205-77440210, 77456042-77456048 |
| 201 | ELANE | 19 | 0.53606965174129 | 373 | 804 | 852329-852359, 852375-852395, 852909-852948, 852957-852967, 853013-853026, 853265-853325, 853331-853356, 853364, 853374-853403, 855585-855630, 855696-855705, 855984-856031, 856075-856088, 856123-856137, 856143-856147 |
| 202 | KISS1R | 19 | 0.79615705931495 | 244 | 1197 | 917504, 917517-917522, 917526, 917616-917648, 917734, 917745-917746, 918544-918564, 918588-918605, 918631-918635, 918643-918668, 920307-920333, 920351-920385, 920567-920604, 920642, 920720-920748 |
| 203 | STK11 | 19 | 0.82027649769585 | 234 | 1302 | 1218443-1218489, 1219391-1219412, 1220447-1220474, 1220609, 1220636-1220649, 1220676, 1221236-1221243, 1221331-1221339, 1222005, 1223015-1223022, 1223053-1223057, 1223071-1223076, 1223103, 1223113-1223115, 1223123, 1223129-1223130, 1223137-1223138, 1223146-1223154, 1223157-1223171, 1226468-1226472, 1226519-1226523, 1226535, 1226593-1226626, 1226635, 1226642-1226646 |
| 204 | NDUFS7 | 19 | 0.93457943925234 | 42 | 642 | 1388560, 1395424-1395464 |
| 205 | GAMT | 19 | 0.99135802469136 | 7 | 810 | 1401433, 1401445, 1401457, 1401463-1401466 |
| 206 | RAX2 | 19 | 0.43063063063063 | 316 | 555 | 3770629, 3770646-3770648, 3770675-3770676, 3770679-3770680, 3770694-3770698, 3770704, 3770742-3770745, 3770767-3770771, 3770774, 3770784-3770823, 3770835-3770851, 3770868-3770899, 3770908-3770939, 3770946-3770957, 3771525-3771631, 3771659-3771690, 3771713-3771726, 3771735-3771740 |
| 207 | MAP2K2 | 19 | 0.83624272651704 | 197 | 1203 | 4090597, 4090634-4090679, 4094452-4094453, 4094464, 4094470, 4095419-4095421, 4097286-4097296, 4097324-4097341, 4099199-4099200, 4099210, 4099215, 4099254, 4101114-4101130, 4123781-4123872 |
| 208 | C3 | 19 | 0.99018429487179 | 49 | 4992 | 6707087-6707093, 6709714-6709716, 6709722, 6709787, 6713506-6713510, 6714006-6714022, 6714031-6714037, 6714047-6714054 |
| 209 | INSR | 19 | 0.99951795613401 | 2 | 4149 | 7293872-7293873 |
| 210 | MCOLN1 | 19 | 0.98623063683305 | 24 | 1743 | 7595257-7595280 |
| 211 | PNPLA6 | 19 | 0.99121485943775 | 35 | 3984 | 7615880-7615907, 7616281-7616287 |
| 212 | TYK2 | 19 | 0.97951739618406 | 73 | 3564 | 10463618, 10463621, 10463728, 10464210-10464220, 10464257-10464258, 10488928-10488943, 10489010-10489049, 10489054 |
| 213 | DNM2 | 19 | 0.99579027937237 | 11 | 2613 | 10897369, 10923026-10923029, 10923036-10923041 |
| 214 | LDLR | 19 | 0.98722415795587 | 33 | 2583 | 11200262-11200277, 11200280, 11210959, 11211005-11211009, 11224300-11224309 |
| 215 | PRKCSH | 19 | 0.99621928166352 | 6 | 1587 | 11558341-11558346 |
| 216 | MAN2B1 | 19 | 0.99802371541502 | 6 | 3036 | 12768306-12768307, 12769319, 12769322-12769324 |
| 217 | CACNA1A | 19 | 0.98098657093472 | 143 | 7521 | 13318336-13318373, 13318411-13318413, 13318467-13318476, 13318574-13318588, 13318631-13318681, 13318698-13318703, 13318845-13318855, 13409888-13409895, 13616943 |
| 218 | NOTCH3 | 19 | 0.99641113982199 | 25 | 6966 | 15302338, 15302809-15302811, 15311627-15311636, 15311670-15311680 |
| 219 | SLC5A5 | 19 | 0.99792960662526 | 4 | 1932 | 17984951-17984954 |
| 220 | IL12RB1 | 19 | 0.99648064353947 | 7 | 1989 | 18197614-18197615, 18197620-18197624 |
| 221 | COMP | 19 | 0.99648197009675 | 8 | 2274 | 18900915-18900918, 18901659-18901660, 18901665, 18901669 |
| 222 | CEBPA | 19 | 0.51624883936862 | 521 | 1077 | 33792481-33792486, 33792625-33792648, 33792675-33792797, 33792818-33792864, 33792885-33792889, 33792898-33792907, 33792915-33793092, 33793137-33793139, 33793168-33793262, 33793291-33793320 |
| 223 | SCN1B | 19 | 0.95043370508055 | 40 | 807 | 35521725-35521764 |
| 224 | MAG | 19 | 0.99681020733652 | 6 | 1881 | 35790708-35790709, 35790715, 35791140-35791141, 35791144 |
| 225 | TYROBP | 19 | 0.95870206489676 | 14 | 339 | 36398395, 36399090-36399100, 36399104-36399105 |
| 226 | WDR62 | 19 | 0.99803149606299 | 9 | 4572 | 36595698-36595706 |
| 227 | RYR1 | 19 | 0.98531454653701 | 222 | 15117 | 39055724-39055751, 39055769-39055772, 39055812-39055818, 39055821, 39055844-39055954, 39055963-39055969, 39055980-39055998, 39056024-39056026, 39056029-39056030, 39056062, 39056176-39056181, 39056195, 39056234, 39056237, 39056263-39056289, 39056291, 39056322-39056323 |
| 228 | ACTN4 | 19 | 0.96198830409357 | 104 | 2736 | 39138468, 39138497, 39138507-39138509, 39215119-39215122, 39219748-39219763, 39219780, 39219914-39219918, 39219935-39219954, 39219970-39219994, 39220016-39220043 |
| 229 | DLL3 | 19 | 0.9935379644588 | 12 | 1857 | 39993568-39993569, 39993605-39993612, 39997949, 39997952 |
| 230 | PRX | 19 | 0.99749202006384 | 11 | 4386 | 40903413, 40909628-40909634, 40909657, 40909660-40909661 |
| 231 | TGFB1 | 19 | 0.97953964194373 | 24 | 1173 | 41854252-41854274, 41858941 |
| 232 | BCAM | 19 | 0.98198198198198 | 34 | 1887 | 45312382-45312391, 45312413-45312414, 45312426, 45312428-45312448 |
| 233 | ERCC2 | 19 | 0.99605781865966 | 9 | 2283 | 45867126-45867133, 45867534 |
| 234 | SIX5 | 19 | 0.98603603603604 | 31 | 2220 | 46268857, 46268968-46268973, 46271952-46271959, 46272065-46272080 |
| 235 | DMPK | 19 | 0.9994708994709 | 1 | 1890 | 46285571 |
| 236 | FKRP | 19 | 0.95900537634409 | 61 | 1488 | 47259259-47259288, 47259317, 47259403-47259406, 47259466-47259485, 47259584, 47259619, 47259636-47259639 |
| 237 | DBP | 19 | 0.74437627811861 | 250 | 978 | 49138858, 49138864-49138920, 49138940-49138970, 49138976-49139016, 49139028, 49139048-49139049, 49139076, 49139079, 49139090-49139144, 49139149, 49139155-49139196, 49140208-49140213, 49140220-49140230 |
| 238 | MED25 | 19 | 0.99732620320856 | 6 | 2244 | 50340110-50340112, 50340115-50340116, 50340119 |
| 239 | MYH14 | 19 | 0.99639993454426 | 22 | 6111 | 50764874-50764889, 50770221-50770226 |
| 240 | KCNC3 | 19 | 0.89050131926121 | 249 | 2274 | 50823503-50823506, 50826405-50826410, 50826459, 50826465-50826476, 50831685-50831695, 50831700-50831704, 50831897-50831903, 50831948-50831955, 50831990, 50832015, 50832022-50832023, 50832149-50832339 |
| 241 | PRPF31 | 19 | 0.554 | 669 | 1500 | 54621687, 54621703-54621709, 54621728, 54625249-54625257, 54625300, 54625961, 54627128-54627134, 54627878-54627883, 54627928-54627960, 54627995-54628035, 54629927-54629934, 54629973-54629992, 54631448-54631575, 54631701-54631752, 54632432-54632560, 54632647-54632745, 54634738-54634863 |
| 242 | TNNT1 | 19 | 0.97972116603295 | 16 | 789 | 55644291, 55644328, 55645294-55645295, 55652286-55652292, 55652296-55652299, 55652303 |
| 243 | TPO | 2 | 0.97787294789436 | 62 | 2802 | 1520655-1520706, 1544448-1544451, 1544462-1544466, 1544479 |
| 244 | KLF11 | 2 | 0.97270955165692 | 42 | 1539 | 10183844-10183885 |
| 245 | MYCN | 2 | 0.96559139784946 | 48 | 1395 | 16082698-16082725, 16082849-16082856, 16082952-16082963 |
| 246 | OTOF | 2 | 0.98631965298632 | 82 | 5994 | 26697415-26697419, 26699165-26699169, 26699823-26699824, 26699858-26699911, 26700081-26700083, 26700336-26700347, 26705288 |
| 247 | EIF2B4 | 2 | 0.99938725490196 | 1 | 1632 | 27592306 |
| 248 | CYP1B1 | 2 | 0.99019607843137 | 16 | 1632 | 38302016-38302028, 38302041, 38302194, 38302200 |
| 249 | SOS1 | 2 | 0.99800099950025 | 8 | 4002 | 39285884-39285891 |
| 250 | EPCAM | 2 | 0.99365079365079 | 6 | 945 | 47596659-47596664 |
| 251 | MSH6 | 2 | 0.98677443056576 | 54 | 4083 | 48010463-48010471, 48010476-48010489, 48010524-48010526, 48010529-48010537, 48010550, 48010564-48010570, 48010602-48010611, 48010615 |
| 252 | DYSF | 2 | 0.99905660377358 | 6 | 6360 | 71847695, 71847702-71847706 |
| 253 | SPR | 2 | 0.99745547073791 | 2 | 786 | 73114806, 73114809 |
| 254 | ALMS1 | 2 | 0.99976007677543 | 3 | 12504 | 73613032-73613034 |
| 255 | MOGS | 2 | 0.99960222752586 | 1 | 2514 | 74692300 |
| 256 | REEP1 | 2 | 0.97854785478548 | 13 | 606 | 86564621-86564633 |
| 257 | EIF2AK3 | 2 | 0.99910474485228 | 3 | 3351 | 88926730-88926732 |
| 258 | TMEM127 | 2 | 0.94700139470014 | 38 | 717 | 96930985-96930988, 96930991-96930992, 96931040, 96931052, 96931057-96931081, 96931085-96931087, 96931093-96931094 |
| 259 | RANBP2 | 2 | 0.9794315245478 | 199 | 9675 | 109345595, 109345598, 109347837-109347859, 109352631-109352638, 109357110-109357126, 109363178-109363195, 109367720-109367743, 109368104-109368111, 109371632-109371662, 109382700-109382706, 109382943, 109383553-109383568, 109383971-109384013, 109384822 |
| 260 | MERTK | 2 | 0.99933333333333 | 2 | 3000 | 112656327-112656328 |
| 261 | GLI2 | 2 | 0.9964293215711 | 17 | 4761 | 121728164, 121745993, 121746152-121746157, 121746167, 121746396, 121746589-121746595 |
| 262 | PROC | 2 | 0.97546897546898 | 34 | 1386 | 128180676-128180681, 128183724-128183751 |
| 263 | CFC1 | 2 | 0.89285714285714 | 72 | 672 | 131280363-131280392, 131280746, 131280774-131280814 |
| 264 | LCT | 2 | 0.99550484094053 | 26 | 5784 | 136570395-136570420 |
| 265 | NEB | 2 | 0.99994993491539 | 1 | 19974 | 152402512 |
| 266 | GALNT3 | 2 | 0.99842271293375 | 3 | 1902 | 166621429-166621431 |
| 267 | HOXD13 | 2 | 0.9922480620155 | 8 | 1032 | 176957673-176957680 |
| 268 | TTN | 2 | 0.99961096480728 | 39 | 100248 | 179523928-179523959, 179527772-179527778 |
| 269 | CERKL | 2 | 0.98436522826767 | 25 | 1599 | 182468594-182468595, 182468674-182468675, 182468680-182468684, 182468692-182468707 |
| 270 | DES | 2 | 0.99504600141543 | 7 | 1413 | 220283704-220283710 |
| 271 | OBSL1 | 2 | 0.9978914074855 | 12 | 5691 | 220435742-220435747, 220435948-220435953 |
| 272 | SLC19A3 | 2 | 0.99798792756539 | 3 | 1491 | 228563534-228563535, 228563694 |
| 273 | AGXT | 2 | 0.97794741306192 | 26 | 1179 | 241810109-241810125, 241810788-241810795, 241810800 |
| 274 | D2HGDH | 2 | 0.94380587484036 | 88 | 1566 | 242707198-242707226, 242707242-242707244, 242707306-242707315, 242707318-242707347, 242707369-242707384 |
| 275 | AVP | 20 | 0.90909090909091 | 45 | 495 | 3063390-3063391, 3063630-3063650, 3063681-3063693, 3063699-3063707 |
| 276 | PANK2 | 20 | 0.98890834792761 | 19 | 1713 | 3870124, 3888843, 3891343-3891346, 3891351, 3891354-3891355, 3891360-3891363, 3891451-3891455, 3903911 |
| 277 | C20orf7 | 20 | 0.9990366088632 | 1 | 1038 | 13765936 |
| 278 | SNTA1 | 20 | 0.83794466403162 | 246 | 1518 | 32000381-32000387, 32000403, 32000423-32000432, 32031117-32031156, 32031164, 32031167, 32031169-32031171, 32031174, 32031177-32031189, 32031219-32031222, 32031246, 32031256, 32031259-32031274, 32031280-32031426 |
| 279 | HNF4A | 20 | 0.99789473684211 | 3 | 1425 | 43052773-43052775 |
| 280 | CTSA | 20 | 0.99799599198397 | 3 | 1497 | 44520238-44520240 |
| 281 | GNAS | 20 | 0.99864498644986 | 1 | 738 | 57415200 |
| 282 | GNAS | 20 | 0.99646756583173 | 11 | 3114 | 57429072-57429076, 57429079, 57429467, 57429683, 57430380-57430382 |
| 283 | COL9A3 | 20 | 0.91581508515815 | 173 | 2055 | 61448417-61448486, 61448935, 61448943-61448969, 61452539-61452540, 61455820-61455826, 61456320-61456373, 61457197-61457204, 61461869-61461872 |
| 284 | CHRNA4 | 20 | 0.30148619957537 | 1316 | 1884 | 61978099-61978101, 61978106, 61978140, 61978147-61978171, 61978180-61978182, 61978188-61978190, 61978196, 61978201, 61978204, 61981005-61981021, 61981033-61981072, 61981074-61981082, 61981093, 61981127-61981130, 61981161-61981218, 61981238, 61981243-61981246, 61981255, 61981259, 61981263-61981281, 61981295-61981388, 61981414-61981416, 61981435-61981725, 61981745-61981794, 61981802-61981811, 61981831, 61981839, 61981850-61981851, 61981857-61981902, 61981909, 61981923-61981962, 61981990-61982028, 61982055-61982080, 61982084-61982091, 61982095, 61982118-61982119, 61982124, 61982139-61982179, 61982200-61982202, 61982214-61982220, 61982229, 61982239-61982253, 61982282-61982318, 61982361-61982379, 61987327-61987436, 61987723-61987767, 61990900-61991051, 61992442-61992517 |
| 285 | KCNQ2 | 20 | 0.67163039327988 | 860 | 2619 | 62038006-62038015, 62038032-62038069, 62038100-62038117, 62038172, 62038236, 62038246-62038259, 62038277, 62038341-62038374, 62038403-62038428, 62038470-62038474, 62038555-62038589, 62038593-62038596, 62038628-62038630, 62038695-62038696, 62039776-62039783, 62039873, 62059785-62059788, 62069978-62069983, 62070960-62071003, 62071020, 62073759-62073878, 62076012-62076021, 62076070-62076103, 62076117-62076171, 62076596-62076608, 62076645-62076661, 62076674-62076717, 62078104-62078110, 62078150-62078157, 62103521-62103816 |
| 286 | SOX18 | 20 | 0.51515151515152 | 560 | 1155 | 62679709-62679711, 62679725, 62679835-62679842, 62679901, 62679906, 62679917-62679944, 62680000-62680027, 62680084-62680104, 62680117-62680218, 62680307-62680315, 62680512-62680869 |
| 287 | IFNGR2 | 21 | 0.93491124260355 | 66 | 1014 | 34775850-34775915 |
| 288 | RCAN1 | 21 | 0.9604743083004 | 30 | 759 | 35987099, 35987173-35987186, 35987212-35987217, 35987225-35987231, 35987304-35987305 |
| 289 | RUNX1 | 21 | 0.999306999307 | 1 | 1443 | 36259287 |
| 290 | CBS | 21 | 0.99154589371981 | 14 | 1656 | 44478944-44478946, 44488622-44488625, 44492186-44492189, 44492193-44492195 |
| 291 | AIRE | 21 | 0.87789987789988 | 200 | 1638 | 45705890-45705897, 45705907-45705909, 45705951-45705961, 45705987-45705990, 45706503, 45709898-45709906, 45711013-45711020, 45711031-45711033, 45712884-45712890, 45712977, 45713000-45713008, 45713030-45713036, 45713048-45713055, 45713757-45713763, 45714284-45714335, 45714349-45714359, 45714386, 45716280-45716301, 45716309-45716324, 45717564-45717565, 45717570, 45717576-45717584 |
| 292 | ITGB2 | 21 | 0.98658008658009 | 31 | 2310 | 46308608-46308612, 46308671, 46308776-46308789, 46308794-46308796, 46309979, 46311881-46311887 |
| 293 | COL18A1 | 21 | 0.75935422602089 | 1267 | 5265 | 46876539-46876544, 46876561, 46906775-46906804, 46906838, 46906854-46906885, 46909409-46909429, 46910189-46910190, 46910200-46910213, 46910764-46910785, 46911139-46911142, 46911165-46911228, 46912466-46912473, 46912612-46912621, 46913088-46913096, 46913122-46913139, 46913447, 46913450, 46913460-46913474, 46913478, 46914459-46914485, 46914776-46914829, 46915272-46915346, 46916441-46916455, 46916470-46916482, 46916964-46916971, 46916987-46917006, 46917513-46917575, 46923925-46923968, 46924330-46924404, 46924410-46924470, 46925048-46925192, 46925288-46925304, 46925307, 46925316, 46925320-46925345, 46925752-46925827, 46925852-46925862, 46925871-46925880, 46927475-46927507, 46929270-46929271, 46929335-46929339, 46929354, 46929369-46929375, 46929387-46929423, 46929442, 46929978-46930009, 46930053-46930073, 46930159-46930165, 46931065-46931132, 46932154-46932193, 46932238-46932242, 46932280, 46932285-46932288, 46932311 |
| 294 | COL6A1 | 21 | 0.71687722708131 | 874 | 3087 | 47401765-47401861, 47402548-47402561, 47402571-47402611, 47402627-47402677, 47404183-47404305, 47404322-47404383, 47406440-47406453, 47406463-47406540, 47406566-47406594, 47406858-47406944, 47406966-47406986, 47407069-47407089, 47407424-47407427, 47407524-47407568, 47408998-47409007, 47409011, 47409030-47409051, 47409527, 47409533, 47409536-47409542, 47409565, 47409666-47409678, 47409689-47409692, 47410172-47410198, 47410292-47410325, 47410687-47410703, 47410725-47410727, 47410735-47410740, 47412078-47412082, 47412288-47412289, 47418312-47418314, 47418842-47418866, 47419571-47419574, 47423507 |
| 295 | COL6A2 | 21 | 0.86339869281046 | 418 | 3060 | 47531445-47531491, 47536565, 47536715-47536724, 47537315-47537342, 47538541-47538552, 47538555-47538577, 47539707-47539764, 47540429-47540449, 47541004, 47541008, 47541018-47541028, 47541034-47541037, 47541481-47541483, 47541486-47541506, 47542024-47542037, 47542064-47542072, 47542792-47542798, 47542802, 47542840-47542851, 47545909-47545915, 47546135, 47551868-47551883, 47552008-47552009, 47552033, 47552040-47552066, 47552071-47552073, 47552127-47552147, 47552157-47552163, 47552184-47552209, 47552213, 47552242-47552253, 47552368-47552371, 47552409, 47552412, 47552448-47552451 |
| 296 | COL6A2 | 21 | 0.77777777777778 | 76 | 342 | 47552184-47552209, 47552213, 47552242-47552253, 47552368-47552371, 47552409, 47552412, 47552448-47552451, 47552474-47552500 |
| 297 | FTCD | 21 | 0.43419434194342 | 920 | 1626 | 47556903-47556928, 47557204-47557246, 47558441-47558444, 47558482-47558483, 47558513-47558527, 47558540-47558560, 47558794-47558801, 47558812, 47565331-47565492, 47565732-47565861, 47566180-47566241, 47570044-47570076, 47570103-47570113, 47570130-47570164, 47570302-47570304, 47570312-47570354, 47570432-47570439, 47571472-47571474, 47571484-47571507, 47571557, 47571619-47571651, 47571806-47571874, 47572826-47572844, 47572848-47572851, 47572882-47572922, 47572930-47572949, 47574063-47574088, 47574103-47574149, 47574193-47574212, 47574217-47574222 |
| 298 | PCNT | 21 | 0.99440615323145 | 56 | 10011 | 47744150-47744174, 47786614-47786617, 47850121-47850146, 47856000 |
| 299 | PRODH | 22 | 0.96505823627288 | 63 | 1803 | 18923535-18923564, 18923570-18923602 |
| 300 | GP1BB | 22 | 0 | 621 | 621 | 19711093-19711102, 19711377-19711987 |
| 301 | TBX1 | 22 | 0.78561827956989 | 319 | 1488 | 19748428-19748599, 19748643-19748660, 19748665-19748666, 19748705-19748706, 19753462-19753463, 19753498-19753516, 19753912-19753934, 19753941-19754005, 19754021, 19754027-19754030, 19754042, 19754105, 19754152, 19754292-19754299 |
| 302 | CHEK2 | 22 | 0.95684270300965 | 76 | 1761 | 29083895-29083916, 29083948-29083965, 29085157-29085171, 29090020-29090033, 29091737-29091743 |
| 303 | TRIOBP | 22 | 0.95209918286841 | 340 | 7098 | 38119879-38119905, 38119948-38119969, 38120029-38120068, 38120095-38120116, 38120150-38120185, 38120242-38120263, 38120320-38120354, 38120470-38120506, 38122487-38122490, 38129358, 38129393-38129419, 38130449, 38130466-38130478, 38130711-38130726, 38130910-38130914, 38130932-38130944, 38130954-38130964, 38131014-38131019, 38131279, 38131311 |
| 304 | PLA2G6 | 22 | 0.2719836400818 | 356 | 489 | 38508274-38508310, 38508511-38508571, 38508582-38508584, 38509494-38509511, 38509521-38509553, 38509563-38509567, 38509573, 38509579, 38509586, 38509599-38509614, 38509655-38509783, 38509810-38509840, 38509850-38509869 |
| 305 | PLA2G6 | 22 | 0.7819083023544 | 528 | 2421 | 38508168-38508310, 38508511-38508571, 38508582-38508584, 38509494-38509511, 38509521-38509553, 38509563-38509567, 38509573, 38509579, 38509586, 38509599-38509614, 38509655-38509661, 38511534-38511572, 38511600, 38511603-38511688, 38512120-38512122, 38512132, 38512162-38512218, 38516890, 38516911, 38519108-38519144, 38519181-38519188, 38519235, 38519264-38519265, 38522452, 38525539 |
| 306 | ADSL | 22 | 0.99931271477663 | 1 | 1455 | 40750290 |
| 307 | TNFRSF13C | 22 | 0.54054054054054 | 255 | 555 | 42322107-42322131, 42322141-42322144, 42322156-42322162, 42322197-42322316, 42322647-42322683, 42322693-42322698, 42322703-42322704, 42322708-42322761 |
| 308 | CYB5R3 | 22 | 0.98123620309051 | 17 | 906 | 43045305-43045321 |
| 309 | ATXN10 | 22 | 0.99719887955182 | 4 | 1428 | 46067951-46067954 |
| 310 | TRMU | 22 | 0.99289099526066 | 9 | 1266 | 46751370-46751378 |
| 311 | MLC1 | 22 | 0.99559082892416 | 5 | 1134 | 50502499-50502500, 50502593-50502595 |
| 312 | TYMP | 22 | 0.85093167701863 | 216 | 1449 | 50964202-50964206, 50964226, 50964232-50964246, 50964261-50964290, 50964308, 50964313, 50964316-50964329, 50964430-50964437, 50964461-50964473, 50964475-50964476, 50964495-50964497, 50964500-50964515, 50964566-50964570, 50964692-50964708, 50964719, 50964759, 50964817-50964833, 50964857-50964866, 50964870, 50964875-50964883, 50964898-50964905, 50965128-50965138, 50965161-50965167, 50968119-50968138 |
| 313 | SHANK3 | 22 | 0.6769641495042 | 1694 | 5244 | 51113070-51113132, 51113476-51113582, 51113597-51113631, 51113645-51113647, 51113660-51113679, 51115057, 51117013, 51117023-51117121, 51117197-51117348, 51117447-51117497, 51117511-51117614, 51117740-51117856, 51121768-51121845, 51123013-51123079, 51133252-51133255, 51133290-51133319, 51133349-51133376, 51133379, 51133434, 51133443, 51133457, 51135671-51135719, 51135951-51136143, 51143226-51143264, 51143276-51143286, 51158656-51158668, 51158672, 51158723-51158756, 51158787, 51158805-51158911, 51158918-51158964, 51158974-51158976, 51158989-51159001, 51159027-51159036, 51159055, 51159063-51159083, 51159097-51159108, 51159116-51159118, 51159141-51159189, 51159214-51159231, 51159244, 51159255-51159272, 51159287, 51159298, 51159303-51159334, 51159364-51159370, 51159397-51159408, 51159463-51159477, 51169396, 51169530-51169536, 51169685, 51169709-51169714, 51169723-51169724, 51169738 |
| 314 | FANCD2 | 3 | 0.98596014492754 | 62 | 4416 | 10088264-10088311, 10088340-10088346, 10107165-10107171 |
| 315 | VHL | 3 | 0.85202492211838 | 95 | 642 | 10183645, 10183648, 10183664-10183686, 10183698-10183747, 10183801-10183819, 10183823 |
| 316 | COL7A1 | 3 | 0.99694397283531 | 27 | 8835 | 48623598-48623600, 48625236, 48625337, 48626844-48626859, 48627045-48627047, 48627139-48627140, 48627145 |
| 317 | SLC25A20 | 3 | 0.99558498896247 | 4 | 906 | 48936174, 48936180-48936182 |
| 318 | HYAL1 | 3 | 0.99694189602446 | 4 | 1308 | 50338487-50338489, 50338492 |
| 319 | TKT | 3 | 0.99946581196581 | 1 | 1872 | 53264485 |
| 320 | HESX1 | 3 | 0.99462365591398 | 3 | 558 | 57232225-57232227 |
| 321 | FLNB | 3 | 0.99871942630298 | 10 | 7809 | 57994523, 57994528, 57994557-57994564 |
| 322 | ATXN7 | 3 | 0.89640591966173 | 294 | 2838 | 63898306-63898599 |
| 323 | PROK2 | 3 | 0.99230769230769 | 3 | 390 | 71834152-71834154 |
| 324 | ARL13B | 3 | 0.92152292152292 | 101 | 1287 | 93761889-93761924, 93761942-93761945, 93761986, 93761990-93761992, 93762035-93762053, 93768250-93768286, 93769732 |
| 325 | IQCB1 | 3 | 0.99944351697273 | 1 | 1797 | 121526204 |
| 326 | NPHP3 | 3 | 0.99023290758828 | 39 | 3993 | 132441043-132441056, 132441059-132441079, 132441093, 132441105-132441107 |
| 327 | FOXL2 | 3 | 0.97877984084881 | 24 | 1131 | 138664865-138664874, 138664876-138664889 |
| 328 | GHSR | 3 | 0.98546775658492 | 16 | 1101 | 172166094-172166109 |
| 329 | ALG3 | 3 | 0.99848139711465 | 2 | 1317 | 183966652, 183966659 |
| 330 | PDE6B | 4 | 0.9766081871345 | 60 | 2565 | 647676, 647902-647936, 650755, 651162, 651173, 651200, 651203-651209, 651242-651250, 651283, 652770, 654345, 656966 |
| 331 | IDUA | 4 | 0.59887869520897 | 787 | 1962 | 980885-980916, 980943-980948, 980968-980971, 980983-980986, 981030, 981624-981642, 981676-981689, 981701, 981722-981725, 994751-994753, 995467-995469, 995593-995606, 995641, 995644-995669, 995817-995827, 995853-995900, 995912-995928, 996057-996066, 996091, 996098, 996105, 996108, 996172, 996188-996225, 996245-996273, 996520-996521, 996538-996539, 996554-996732, 996824-996891, 996898-996904, 996913-996945, 997133-997237, 997243-997246, 997346-997396, 997800-997818, 998076-998102 |
| 332 | FGFR3 | 4 | 0.82241450350227 | 431 | 2427 | 1795662-1795716, 1795731, 1795741-1795747, 1795751-1795758, 1800981-1801002, 1801055, 1801059-1801065, 1801069, 1801078, 1801081-1801085, 1801145-1801146, 1801169, 1801172, 1801190-1801225, 1801494-1801507, 1803109-1803112, 1803117-1803120, 1803132, 1803162-1803171, 1803175-1803183, 1803201-1803203, 1803206-1803208, 1803213-1803214, 1803240, 1803347-1803348, 1803351-1803377, 1803389-1803391, 1803422, 1803428, 1803441, 1803584-1803586, 1803591, 1803631, 1803639-1803647, 1803654, 1803688-1803704, 1803709-1803711, 1803743-1803752, 1806077-1806078, 1806138, 1806161-1806191, 1806626, 1806642-1806678, 1807553-1807555, 1807558, 1807984-1807991, 1808015, 1808283, 1808286, 1808593-1808595, 1808644-1808645, 1808650-1808653, 1808895-1808925, 1808955-1808979 |
| 333 | SH3BP2 | 4 | 0.97899838449111 | 39 | 1857 | 2819991-2820028, 2820065 |
| 334 | HTT | 4 | 0.98653091526143 | 127 | 9429 | 3076604-3076657, 3076676-3076679, 3076682-3076732, 3076735-3076743, 3234954-3234960, 3240608-3240609 |
| 335 | DOK7 | 4 | 0.84158415841584 | 240 | 1515 | 3465265, 3465273-3465278, 3475140, 3478092-3478118, 3478191-3478207, 3478244-3478251, 3478264-3478269, 3494578-3494591, 3494596-3494611, 3494662-3494664, 3494725-3494740, 3494769, 3494783-3494794, 3494800-3494824, 3494856, 3494873-3494876, 3494879-3494880, 3494966, 3494995-3494996, 3495026-3495066, 3495086-3495089, 3495107-3495137, 3495216 |
| 336 | DOK7 | 4 | 0.76649746192893 | 138 | 591 | 3494578-3494591, 3494596-3494611, 3494662-3494664, 3494725-3494740, 3494769, 3494783-3494794, 3494800-3494824, 3494856, 3494873-3494876, 3494879-3494880, 3494966, 3494995-3494996, 3495026-3495066 |
| 337 | MSX1 | 4 | 0.99780701754386 | 2 | 912 | 4861645, 4861654 |
| 338 | EVC2 | 4 | 0.99719887955182 | 11 | 3927 | 5710184-5710186, 5710196-5710201, 5710209-5710210 |
| 339 | EVC | 4 | 0.95938234306814 | 121 | 2979 | 5713108-5713216, 5755631-5755642 |
| 340 | WFS1 | 4 | 0.99962588851478 | 1 | 2673 | 6279401 |
| 341 | QDPR | 4 | 0.99455782312925 | 4 | 735 | 17513595, 17513661-17513663 |
| 342 | PKD2 | 4 | 0.99484004127967 | 15 | 2907 | 88928915-88928929 |
| 343 | CISD2 | 4 | 0.97303921568627 | 11 | 408 | 103808512-103808522 |
| 344 | GLRB | 4 | 0.99665327978581 | 5 | 1494 | 158041708-158041712 |
| 345 | GK | 4 | 0.98977135980746 | 17 | 1662 | 166199284-166199290, 166199423-166199432 |
| 346 | SDHA | 5 | 0.93333333333333 | 133 | 1995 | 218500, 223682-223683, 233689-233697, 236613-236619, 236646-236681, 236693-236699, 251173-251218, 251469, 251562-251583, 254599, 256472 |
| 347 | SLC6A19 | 5 | 0.750656167979 | 475 | 1905 | 1201766-1201967, 1208885-1208887, 1208925-1208945, 1208964, 1208972, 1208995-1209001, 1210559-1210611, 1210693, 1212587, 1213578-1213645, 1213668-1213688, 1214068-1214110, 1214150-1214175, 1216800, 1217027, 1219018-1219025, 1219622, 1219665, 1219739-1219753 |
| 348 | TERT | 5 | 0.79788172992056 | 687 | 3399 | 1258724-1258726, 1258731, 1264702, 1266579-1266616, 1268680-1268731, 1271234-1271312, 1272308, 1272327-1272395, 1278850-1278853, 1279421-1279429, 1279449-1279473, 1280371-1280373, 1280417-1280426, 1293650, 1293707-1293711, 1293917-1293930, 1294230-1294291, 1294341-1294348, 1294512-1294527, 1294555-1294595, 1294608-1294642, 1294665, 1294670-1294671, 1294676-1294701, 1294703-1294707, 1294717, 1294756-1294776, 1294779-1294780, 1294886-1294893, 1294927-1294964, 1294985, 1294992-1295064, 1295073-1295104 |
| 349 | SLC6A3 | 5 | 0.7337627482555 | 496 | 1863 | 1406341-1406351, 1406358-1406396, 1409141-1409188, 1409838-1409887, 1409911-1409963, 1411358-1411396, 1411423-1411470, 1414806-1414853, 1414866-1414930, 1420722-1420724, 1420746-1420751, 1421991-1422020, 1422029-1422071, 1422094, 1422099, 1422113-1422123 |
| 350 | SDHA | 5 | 0.99082568807339 | 3 | 327 | 1593246, 1593264, 1593266 |
| 351 | MTRR | 5 | 0.99862258953168 | 3 | 2178 | 7897352-7897354 |
| 352 | ANKH | 5 | 0.99661933739013 | 5 | 1479 | 14871471-14871475 |
| 353 | NIPBL | 5 | 0.99928698752228 | 6 | 8415 | 37036481-37036483, 37048661-37048663 |
| 354 | ERCC8 | 5 | 0.99916036943745 | 1 | 1191 | 60200665 |
| 355 | SMN2 | 5 | 0.95593220338983 | 39 | 885 | 69362946-69362961, 69372350-69372372 |
| 356 | SMN2 | 5 | 0.9819209039548 | 16 | 885 | 70238370-70238385 |
| 357 | GPR98 | 5 | 0.99767454151472 | 44 | 18921 | 90144571-90144614 |
| 358 | LMNB1 | 5 | 0.95229982964225 | 84 | 1761 | 126113213, 126113275-126113285, 126113369, 126113430-126113470, 126113495-126113519, 126113550-126113554 |
| 359 | MYOT | 5 | 0.98396793587174 | 24 | 1497 | 137221775, 137221859-137221869, 137221899-137221902, 137222947-137222954 |
| 360 | MSX2 | 5 | 0.98507462686567 | 12 | 804 | 174151860-174151868, 174151897-174151899 |
| 361 | NHP2 | 5 | 0.99134199134199 | 4 | 462 | 177580730-177580733 |
| 362 | GRM6 | 5 | 0.99278663629461 | 19 | 2634 | 178421669-178421687 |
| 363 | FLT4 | 5 | 0.49217986314761 | 2078 | 4092 | 180045793-180045830, 180045854-180045899, 180045908-180045920, 180046021-180046029, 180046039-180046109, 180046260-180046272, 180046282-180046366, 180046665, 180046671-180046726, 180046737-180046758, 180047191-180047240, 180047250-180047281, 180047299-180047303, 180047626-180047659, 180047669-180047684, 180047711-180047715, 180047879-180047880, 180047883-180047897, 180047914-180047942, 180047945-180047961, 180047967-180048007, 180048106-180048129, 180048156-180048161, 180048203-180048248, 180048542, 180048590-180048599, 180048635-180048641, 180048653-180048659, 180048690-180048702, 180048727-180048757, 180048796-180048797, 180048811, 180048824-180048826, 180048893-180048896, 180049748, 180049789-180049792, 180050935-180050951, 180050980-180050984, 180050989-180050991, 180050995, 180051001-180051008, 180051041, 180051044-180051051, 180052869-180052923, 180052955-180053031, 180053111-180053172, 180053196-180053248, 180053254-180053265, 180055882-180055980, 180055988-180055999, 180056259-180056379, 180056393-180056427, 180056696-180056828, 180056835, 180056943-180057105, 180057225-180057337, 180057555-180057603, 180057620, 180057628-180057663, 180057687-180057799, 180058682-180058778, 180076488-180076497, 180076513-180076545 |
| 364 | FOXC1 | 6 | 0.67870036101083 | 534 | 1662 | 1610752-1610803, 1610827-1610832, 1610862-1610863, 1610978-1610984, 1611062-1611069, 1611164, 1611184-1611186, 1611272-1611293, 1611311, 1611314-1611316, 1611319-1611320, 1611323-1611341, 1611358-1611364, 1611391-1611396, 1611402, 1611405-1611410, 1611418-1611438, 1611463-1611474, 1611489-1611595, 1611612-1611760, 1611788-1611819, 1611827, 1611842, 1612018-1612020, 1612024-1612037, 1612089-1612105, 1612138-1612165, 1612199-1612201 |
| 365 | TUBB2B | 6 | 0.93796711509716 | 83 | 1338 | 3224992-3225018, 3225230, 3225243, 3225473-3225500, 3225540-3225552, 3226429-3226434, 3227721-3227727 |
| 366 | DSP | 6 | 0.99965181058496 | 3 | 8616 | 7542286-7542288 |
| 367 | ATXN1 | 6 | 0.99509803921569 | 12 | 2448 | 16327865-16327867, 16327907-16327909, 16327912, 16327915-16327918, 16327921 |
| 368 | ALDH5A1 | 6 | 0.99817850637523 | 3 | 1647 | 24495387-24495389 |
| 369 | HLA-H | 6 | 0.788 | 159 | 750 | 29855764, 29855770, 29855797-29855823, 29855856-29855859, 29855862-29855864, 29855876, 29855884, 29855949-29855973, 29855999, 29856330, 29856347, 29856353, 29856359, 29856363, 29856389, 29856402, 29856426-29856427, 29856438, 29856456-29856480, 29856516, 29856534, 29856543, 29856546, 29856550, 29856565, 29856576-29856621, 29856643, 29856679, 29856682, 29856693, 29856698, 29856711, 29856718, 29856721 |
| 370 | TNXB | 6 | 0.93208916537066 | 131 | 1929 | 31976916, 31976926, 31977388-31977394, 31977525-31977555, 31977998, 31978081-31978087, 31978498-31978535, 31979447-31979482, 31979571-31979577, 31979963, 31980000 |
| 371 | CYP21A2 | 6 | 0.98924731182796 | 16 | 1488 | 32006215-32006220, 32006317, 32006337, 32006886, 32008448-32008454 |
| 372 | TNXB | 6 | 0.99552203629507 | 57 | 12729 | 32009648-32009664, 32010123-32010129, 32010255, 32010272, 32010732, 32010815-32010821, 32011235, 32011248, 32012330-32012336, 32012425-32012431, 32012814-32012820 |
| 373 | HLA-DQA1 | 6 | 0.97135416666667 | 22 | 768 | 32610387-32610406, 32610436, 32610445 |
| 374 | HLA-DQB1 | 6 | 0.87150127226463 | 101 | 786 | 32629124-32629213, 32629224-32629234 |
| 375 | SYNGAP1 | 6 | 0.98338293650794 | 67 | 4032 | 33388042-33388108 |
| 376 | FANCE | 6 | 0.99627560521415 | 6 | 1611 | 35420406-35420411 |
| 377 | MOCS1 | 6 | 0.81737310308739 | 349 | 1911 | 39893422-39893505, 39893524-39893534, 39893545-39893589, 39895068-39895155, 39895165-39895168, 39895189-39895254, 39895267-39895317 |
| 378 | RSPH9 | 6 | 0.99879663056558 | 1 | 831 | 43612848 |
| 379 | RUNX2 | 6 | 0.98659003831418 | 21 | 1566 | 45390488-45390507, 45390520 |
| 380 | EYS | 6 | 0.99925808161102 | 7 | 9435 | 64694380-64694386 |
| 381 | RIMS1 | 6 | 0.99960622169718 | 2 | 5079 | 73001683-73001684 |
| 382 | OSTM1 | 6 | 0.98606965174129 | 14 | 1005 | 108395749-108395759, 108395793-108395795 |
| 383 | GJA1 | 6 | 0.99390774586597 | 7 | 1149 | 121768922-121768928 |
| 384 | LAMA2 | 6 | 0.99946598312507 | 5 | 9363 | 129833582-129833586 |
| 385 | ENPP1 | 6 | 0.97876169906407 | 59 | 2778 | 132129176-132129206, 132129337-132129355, 132186077-132186078, 132203494-132203500 |
| 386 | EYA4 | 6 | 0.99739583333333 | 5 | 1920 | 133783594-133783598 |
| 387 | TBP | 6 | 0.98333333333333 | 17 | 1020 | 170871014-170871019, 170871034, 170871037, 170871043-170871046, 170871064, 170871067, 170871070, 170871073, 170871076 |
| 388 | LFNG | 7 | 0.68947368421053 | 354 | 1140 | 2559496-2559688, 2559698-2559700, 2559705-2559707, 2559722-2559727, 2559738-2559863, 2559878-2559882, 2559885-2559901, 2564924 |
| 389 | PMS2 | 7 | 0.9969100038625 | 8 | 2589 | 6013150-6013156, 6026988 |
| 390 | TWIST1 | 7 | 0.78325123152709 | 132 | 609 | 19156620-19156631, 19156692-19156705, 19156710-19156711, 19156769-19156872 |
| 391 | DNAH11 | 7 | 0.99992631889184 | 1 | 13572 | 21924014 |
| 392 | HOXA13 | 7 | 0.70179948586118 | 348 | 1167 | 27238914-27238920, 27239115, 27239200-27239215, 27239262, 27239316, 27239319-27239467, 27239493-27239581, 27239602-27239635, 27239647-27239696 |
| 393 | GLI3 | 7 | 0.99852414083913 | 7 | 4743 | 42005591-42005595, 42005640, 42005675 |
| 394 | GCK | 7 | 0.96716630977873 | 46 | 1401 | 44186084-44186123, 44191870, 44191876-44191880 |
| 395 | CCM2 | 7 | 0.86142322097378 | 185 | 1335 | 45039933-45039962, 45113098-45113109, 45113125-45113160, 45113875-45113922, 45113960-45113961, 45113994-45114007, 45115397-45115407, 45115445-45115455, 45115572, 45115575-45115582, 45115609, 45115629, 45115637-45115645, 45115650 |
| 396 | EGFR | 7 | 0.98706303330581 | 47 | 3633 | 55086986-55087026, 55220299-55220304 |
| 397 | GUSB | 7 | 0.99948875255624 | 1 | 1956 | 65435288 |
| 398 | ASL | 7 | 0.97060931899642 | 41 | 1395 | 65547435-65547438, 65551731-65551736, 65552723-65552752, 65553809 |
| 399 | KCTD7 | 7 | 0.9551724137931 | 39 | 870 | 66094115-66094122, 66094142-66094168, 66094192-66094195 |
| 400 | SBDS | 7 | 0.9734395750332 | 20 | 753 | 66453460, 66456147-66456165 |
| 401 | NCF1 | 7 | 0.97212121212121 | 23 | 825 | 72639957-72639963, 72640033-72640039, 72643704-72643710, 72644233, 72648749 |
| 402 | ELN | 7 | 0.94390804597701 | 122 | 2175 | 73442518-73442547, 73442553-73442590, 73466155-73466169, 73466262-73466300 |
| 403 | NCF1 | 7 | 0.99914748508099 | 1 | 1173 | 74202429 |
| 404 | POR | 7 | 0.62359275575135 | 769 | 2043 | 75610431, 75610467-75610487, 75610896, 75612860-75612863, 75612874-75612884, 75612940-75612950, 75613087-75613116, 75614136-75614156, 75614190-75614276, 75614376-75614413, 75614441-75614459, 75614468-75614512, 75614525, 75614897-75614915, 75614937-75615113, 75615137, 75615148-75615152, 75615161-75615167, 75615241-75615284, 75615287, 75615310-75615346, 75615377-75615386, 75615480-75615489, 75615493-75615498, 75615523-75615559, 75615655-75615692, 75615702-75615705, 75615717-75615799 |
| 405 | AKAP9 | 7 | 0.99991470487888 | 1 | 11724 | 91708467 |
| 406 | SLC26A3 | 7 | 0.99912854030501 | 2 | 2295 | 107414410-107414411 |
| 407 | CFTR | 7 | 0.98154400180059 | 82 | 4443 | 117188713-117188753, 117188760-117188800 |
| 408 | FLNC | 7 | 0.99877720714111 | 10 | 8178 | 128470868-128470870, 128498187-128498193 |
| 409 | BRAF | 7 | 0.99913081269013 | 2 | 2301 | 140624408, 140624411 |
| 410 | PRSS1 | 7 | 0.99865591397849 | 1 | 744 | 142460313 |
| 411 | CNTNAP2 | 7 | 0.99874874874875 | 5 | 3996 | 145814018-145814020, 145814024, 145814028 |
| 412 | KCNH2 | 7 | 0.98362068965517 | 57 | 3480 | 150671885-150671890, 150674933, 150674937, 150674945-150674961, 150674970-150675001 |
| 413 | PRKAG2 | 7 | 0.98421052631579 | 27 | 1710 | 151329198-151329224 |
| 414 | SHH | 7 | 0.66234701223902 | 469 | 1389 | 155595594-155595596, 155595615-155595646, 155595659-155595667, 155595669-155595679, 155595691-155595725, 155595742-155595763, 155595794-155595931, 155595942-155595944, 155595957, 155595973-155595991, 155596059-155596070, 155596100-155596143, 155596147, 155596188-155596217, 155596227-155596252, 155596282-155596285, 155596307-155596331, 155596404-155596410, 155599042, 155599071-155599090, 155599146-155599170, 155604804 |
| 415 | MNX1 | 7 | 0.72388059701493 | 333 | 1206 | 156798337-156798342, 156798395-156798409, 156799261-156799266, 156802527-156802529, 156802566-156802570, 156802584, 156802600, 156802602-156802608, 156802632-156802846, 156802862-156802900, 156802934, 156802942-156802947, 156802971-156802995, 156803001-156803003 |
| 416 | CLN8 | 8 | 0.99651567944251 | 3 | 861 | 1719510-1719512 |
| 417 | GATA4 | 8 | 0.99398043641836 | 8 | 1329 | 11565915-11565920, 11566374-11566375 |
| 418 | HGSNAT | 8 | 0.9643605870021 | 68 | 1908 | 42995647-42995649, 42995661-42995662, 42995677-42995736, 42995754-42995756 |
| 419 | GDF6 | 8 | 0.9890350877193 | 15 | 1368 | 97157262-97157276 |
| 420 | KIAA0196 | 8 | 0.99971264367816 | 1 | 3480 | 126091152 |
| 421 | KCNQ3 | 8 | 0.97938144329897 | 54 | 2619 | 133492577-133492578, 133492667, 133492727-133492777 |
| 422 | SLURP1 | 8 | 0.40705128205128 | 185 | 312 | 143822585-143822591, 143822614-143822661, 143822671-143822677, 143822679-143822681, 143823221-143823308, 143823748-143823779 |
| 423 | CYP11B1 | 8 | 0.99537037037037 | 7 | 1512 | 143958513-143958519 |
| 424 | CYP11B2 | 8 | 0.95436507936508 | 69 | 1512 | 143993947-143993994, 143996536-143996556 |
| 425 | PLEC | 8 | 0.7928850942725 | 2911 | 14055 | 144990392, 144990405-144990425, 144990485-144990491, 144990771-144990787, 144992385, 144993917, 144994312-144994315, 144994394-144994396, 144995486, 144995572-144995585, 144995684, 144995812, 144995822-144995831, 144995908, 144996189-144996190, 144996196, 144996220-144996274, 144996344-144996346, 144996685, 144996690-144996699, 144996976, 144996979, 144996992, 144997086-144997099, 144997105-144997107, 144997448, 144997489-144997517, 144997562-144997565, 144997646-144997683, 144997734-144997738, 144997755, 144997789, 144997816-144997817, 144997827-144997868, 144997917-144997930, 144998026, 144998056-144998067, 144998093-144998106, 144998114, 144998122-144998129, 144998157-144998165, 144998169, 144998174-144998196, 144998236-144998296, 144998310, 144998388-144998389, 144998393-144998406, 144998443-144998492, 144998503-144998551, 144998565-144998571, 144998592-144998693, 144998704, 144998721-144998722, 144998733-144998734, 144998762-144998804, 144998824, 144998840-144998869, 144998881, 144998904, 144998913-144998915, 144998934-144998952, 144998955-144998990, 144998996-144999003, 144999008, 144999011-144999012, 144999049-144999125, 144999131-144999199, 144999208, 144999219-144999298, 144999310-144999386, 144999414-144999447, 144999456-144999665, 144999680-144999813, 144999820-144999821, 144999846-144999932, 144999938-144999999, 145000016-145000052, 145001044, 145001207, 145001503, 145001588, 145001599, 145001603-145001632, 145001663, 145001671-145001689, 145001692-145001693, 145001704-145001707, 145001713-145001747, 145001761-145001790, 145001825-145001858, 145001879-145001892, 145002039-145002044, 145002094-145002105, 145002120, 145003335-145003336, 145003582-145003591, 145003600-145003604, 145003628, 145003635-145003637, 145003822-145003833, 145003839, 145003844, 145003856-145003867, 145003909, 145003941, 145003970-145003997, 145004150-145004172, 145004216-145004222, 145004385-145004392, 145004411-145004414, 145004425-145004426, 145004562, 145004567-145004592, 145005702-145005747, 145005762, 145005772, 145005802, 145006114-145006115, 145006138-145006200, 145006298-145006319, 145006323, 145006332-145006379, 145006568-145006575, 145006612-145006628, 145006638, 145006654-145006690, 145006716-145006729, 145006803-145006848, 145006871-145006873, 145006877-145006880, 145006980-145007026, 145007090-145007112, 145007115-145007129, 145007145, 145007157-145007202, 145007469-145007512, 145008166-145008188, 145008238-145008242, 145008258-145008259, 145008486, 145008554, 145008560, 145008591-145008597, 145008990, 145008999, 145009003, 145009012, 145009048-145009062, 145009066, 145009072, 145009085-145009091, 145009095-145009097, 145009202, 145009210, 145009242-145009270, 145009381-145009391, 145010034-145010059, 145010122-145010135, 145010148-145010155, 145010172-145010182, 145011161-145011174, 145011178, 145011204, 145011208-145011223, 145011334-145011370, 145011397-145011410, 145012337-145012354, 145012367, 145012372, 145012809, 145024463-145024492, 145024562-145024604, 145024722-145024728, 145024792-145024818, 145024853, 145024863, 145024868-145024874 |
| 426 | GPT | 8 | 0.48289738430584 | 771 | 1491 | 145729744-145729747, 145729752-145729754, 145729757-145729766, 145729989-145730002, 145730406-145730424, 145730478-145730505, 145730629-145730630, 145730640, 145730645-145730646, 145730658-145730679, 145730724-145730751, 145730772-145730806, 145730828-145730872, 145731231-145731238, 145731247-145731310, 145731389-145731514, 145731615-145731632, 145731644-145731789, 145731888-145731967, 145731975-145731981, 145731994-145732039, 145732114-145732126, 145732133-145732135, 145732149-145732158, 145732301, 145732304, 145732306, 145732309-145732340, 145732382-145732383 |
| 427 | RECQL4 | 8 | 0.36917562724014 | 2288 | 3627 | 145736814-145736821, 145736837-145736910, 145737077-145737141, 145737153-145737172, 145737294-145737311, 145737317-145737329, 145737336-145737337, 145737348-145737450, 145737531-145737559, 145737561-145737660, 145737662, 145737667-145737690, 145737705-145737707, 145737787-145737838, 145737857-145737883, 145737886-145737898, 145737919-145737944, 145738025-145738032, 145738050-145738069, 145738083-145738099, 145738115-145738121, 145738124-145738151, 145738230-145738337, 145738341-145738343, 145738359-145738411, 145738427-145738521, 145738601-145738768, 145738770-145738864, 145738958-145739096, 145739317-145739376, 145739406-145739430, 145739433, 145739440, 145739443-145739444, 145739457-145739459, 145739463-145739465, 145739482-145739488, 145739573-145739577, 145739618-145739627, 145739636-145739637, 145739660, 145739678-145739680, 145739709-145739746, 145739895, 145739905-145739909, 145740323-145740356, 145740394-145740441, 145740451, 145740596-145740602, 145740729-145740730, 145740733-145740734, 145740741-145740751, 145740755, 145740834-145740841, 145741148-145741185, 145741260, 145741376-145741460, 145741488, 145741491-145741497, 145741503, 145741524-145741531, 145741559-145741581, 145741609-145741631, 145741649, 145741653-145741669, 145741677, 145741721-145741760, 145741773, 145741843-145741870, 145741893, 145741897-145741903, 145741923-145742008, 145742027-145742037, 145742046-145742049, 145742088-145742120, 145742441, 145742470, 145742510-145742542, 145742550-145742574, 145742798-145742892, 145742986-145743019, 145743087-145743168 |
| 428 | DOCK8 | 9 | 0.99857142857143 | 9 | 6300 | 407012, 407041, 420469-420472, 429717-429719 |
| 429 | VLDLR | 9 | 0.98512585812357 | 39 | 2622 | 2622193-2622231 |
| 430 | ROR2 | 9 | 0.9816384180791 | 52 | 2832 | 94712158-94712161, 94712167-94712169, 94712201-94712245 |
| 431 | FBP1 | 9 | 0.99016715830875 | 10 | 1017 | 97365842-97365851 |
| 432 | PTCH1 | 9 | 0.9963167587477 | 16 | 4344 | 98270457-98270463, 98270554, 98270562-98270566, 98270570, 98270590, 98270643 |
| 433 | FOXE1 | 9 | 0.95900178253119 | 46 | 1122 | 100616266-100616269, 100616323, 100616544-100616545, 100616637, 100616644-100616648, 100616686-100616713, 100616751-100616752, 100617093, 100617109, 100617132 |
| 434 | TGFBR1 | 9 | 0.93584656084656 | 97 | 1512 | 101867488-101867584 |
| 435 | NR5A1 | 9 | 0.95093795093795 | 68 | 1386 | 127245167-127245178, 127255332, 127262551-127262554, 127262784, 127262804, 127265375-127265421, 127265588-127265589 |
| 436 | LMX1B | 9 | 0.98033958891868 | 22 | 1119 | 129376820-129376822, 129376827, 129376855-129376867, 129377693-129377697 |
| 437 | STXBP1 | 9 | 0.99448123620309 | 10 | 1812 | 130374702-130374708, 130374714-130374716 |
| 438 | TOR1A | 9 | 0.98898898898899 | 11 | 999 | 132586217-132586225, 132586297, 132586354 |
| 439 | SETX | 9 | 0.9991287030122 | 7 | 8034 | 135139876, 135139879-135139884 |
| 440 | CEL | 9 | 0.84808454425363 | 345 | 2271 | 135937446-135937452, 135944192-135944198, 135944521-135944527, 135946012-135946018, 135946653-135946672, 135946686-135946916, 135946939-135946978, 135946997, 135947046-135947064, 135947114-135947119 |
| 441 | SURF1 | 9 | 0.95681063122924 | 39 | 903 | 136220627-136220633, 136223124-136223132, 136223135-136223143, 136223276-136223280, 136223307-136223315 |
| 442 | ADAMTS13 | 9 | 0.94234360410831 | 247 | 4284 | 136293763-136293847, 136293851-136293871, 136293874-136293885, 136295059-136295080, 136295125-136295194, 136295208-136295221, 136301949-136301956, 136302920-136302926, 136307756, 136310898, 136320661-136320666 |
| 443 | DBH | 9 | 0.92502696871629 | 139 | 1854 | 136501748-136501749, 136505024-136505039, 136505046, 136516756-136516759, 136516785-136516797, 136516824-136516865, 136517368-136517372, 136518089, 136521698-136521712, 136521757, 136521761-136521762, 136522233-136522248, 136522338-136522344, 136523515, 136523523-136523535 |
| 444 | SARDH | 9 | 0.80486035545883 | 538 | 2757 | 136529096-136529102, 136529109-136529133, 136529136, 136531857-136531992, 136535706-136535874, 136536657-136536819, 136555502-136555509, 136559411-136559438, 136559475 |
| 445 | COL5A1 | 9 | 0.94036614101867 | 329 | 5517 | 137534034-137534138, 137582758-137582764, 137582886-137582913, 137582923-137582925, 137591755-137591775, 137591828-137591872, 137591898-137591904, 137591940-137591951, 137593075-137593080, 137593094-137593139, 137593168, 137642714-137642717, 137642723, 137644452-137644472, 137645697-137645701, 137676933, 137705871-137705882, 137727000-137727003 |
| 446 | LHX3 | 9 | 0.95616211745244 | 53 | 1209 | 139090794-139090798, 139090899, 139094809-139094850, 139094870-139094874 |
| 447 | INPP5E | 9 | 0.84599483204134 | 298 | 1935 | 139326284-139326299, 139326309, 139326316, 139326323-139326329, 139326352, 139326364-139326381, 139326397, 139326437, 139326944, 139327014, 139327509, 139327516-139327527, 139327684, 139329215, 139333063-139333064, 139333113-139333138, 139333293-139333312, 139333337-139333340, 139333399, 139333407-139333410, 139333432-139333455, 139333496-139333558, 139333598-139333639, 139333693, 139333736-139333749, 139333774-139333783, 139333848-139333871 |
| 448 | NOTCH1 | 9 | 0.31351069379238 | 5264 | 7668 | 139390523-139390627, 139390650, 139390729-139390964, 139390970-139391009, 139391014-139391018, 139391022-139391024, 139391036-139391043, 139391092, 139391110-139391279, 139391292, 139391311-139391362, 139391365-139391369, 139391381-139391403, 139391424-139391578, 139391593-139391596, 139391620-139391636, 139391644-139391648, 139391665-139391720, 139391728, 139391742-139391808, 139391822-139391913, 139391936-139392010, 139393367-139393376, 139393415-139393434, 139393564-139393629, 139393642-139393644, 139393653-139393677, 139393701-139393711, 139395011-139395040, 139395044, 139395053-139395057, 139395083-139395166, 139395180-139395284, 139395298-139395299, 139396200-139396365, 139396453-139396539, 139396724-139396733, 139396748-139396787, 139396793-139396834, 139396849, 139396868-139396906, 139396925-139396940, 139397661, 139397678, 139397707-139397709, 139397716-139397772, 139399129, 139399132-139399134, 139399144-139399239, 139399245-139399281, 139399290-139399329, 139399349, 139399354-139399359, 139399362, 139399383-139399466, 139399478-139399484, 139399493-139399498, 139399507-139399546, 139399774-139399847, 139399860-139399864, 139399867, 139399875-139399895, 139399905-139399958, 139399990, 139400003-139400039, 139400050, 139400058, 139400063-139400070, 139400081, 139400120-139400133, 139400169, 139400174-139400178, 139400183-139400206, 139400213-139400214, 139400220-139400248, 139400315-139400333, 139400979-139401032, 139401060, 139401072-139401073, 139401076, 139401082-139401091, 139401168-139401198, 139401209-139401211, 139401237, 139401276-139401277, 139401291-139401302, 139401305-139401308, 139401312, 139401334, 139401366, 139401757-139401773, 139401805-139401808, 139401813, 139401846, 139401868, 139402462, 139402498-139402517, 139402537-139402541, 139402545-139402549, 139402577, 139402585, 139402588-139402591, 139402710-139402758, 139402786-139402812, 139403322-139403329, 139403333-139403334, 139403348-139403382, 139403396-139403436, 139403479-139403523, 139404185-139404188, 139404267-139404285, 139404296, 139404336, 139404375, 139404378-139404379, 139404399-139404413, 139405129-139405132, 139405136-139405139, 139405142-139405145, 139405171-139405185, 139405197-139405257, 139405611, 139405625, 139405658, 139405705, 139405711-139405723, 139407473-139407586, 139407844-139407898, 139407921-139407956, 139407989, 139408962-139408994, 139409008-139409039, 139409051-139409100, 139409123-139409149, 139409752-139409852, 139409935-139410063, 139410073-139410168, 139410433-139410449, 139410454-139410455, 139410466-139410515, 139410529-139410546, 139411724-139411837, 139412204-139412382, 139412589-139412662, 139412684-139412689, 139412701-139412744, 139413043-139413124, 139413134-139413234, 139413269-139413276, 139413895-139413966, 139413981-139414017, 139417302-139417640, 139418169-139418431, 139438478, 139438481-139438490, 139438525-139438526, 139438536-139438538, 139440178-139440238 |
| 449 | AGPAT2 | 9 | 0.79808841099164 | 169 | 837 | 139571117, 139571524, 139571958, 139581628, 139581645-139581809 |
| 450 | SLC34A3 | 9 | 0.66277777777778 | 607 | 1800 | 140127027-140127039, 140127063, 140127462-140127496, 140127748, 140128123-140128126, 140128136, 140128145-140128147, 140128315-140128393, 140128561-140128670, 140128682-140128716, 140128723-140128728, 140128868-140128898, 140128913-140128923, 140128941-140128984, 140129071-140129073, 140129131-140129146, 140129181-140129183, 140130429-140130467, 140130477-140130485, 140130512-140130583, 140130593-140130615, 140130633-140130648, 140130669, 140130677-140130692, 140130703-140130705, 140130713, 140130807-140130809, 140130826-140130849, 140130865-140130868 |
| 451 | EHMT1 | 9 | 0.84449576597383 | 606 | 3897 | 140513481-140513501, 140605446-140605470, 140611078-140611634, 140672486-140672488 |
| 452 | SHOX | X | 0.87372013651877 | 111 | 879 | 591689-591715, 591718-591737, 591763-591769, 591779-591784, 591795, 591861-591863, 591869-591886, 595393-595399, 595480-595501 |
| 453 | CSF2RA | X | 0.79233716475096 | 271 | 1305 | 1401667-1401672, 1404671-1404674, 1404686-1404688, 1404701, 1404709, 1404746-1404755, 1404772, 1404777-1404778, 1404800-1404801, 1407697, 1409235-1409238, 1409380-1409389, 1413221-1413280, 1413321, 1413331-1413354, 1414322, 1419398-1419409, 1419463-1419489, 1419500, 1419503, 1422154-1422174, 1422182-1422245, 1422816-1422828, 1422848 |
| 454 | ARX | X | 0.9449378330373 | 93 | 1689 | 25031513, 25031639-25031689, 25031715, 25031719-25031745, 25031760-25031770, 25031776, 25031779 |
| 455 | RPGR | X | 0.73865278982365 | 904 | 3459 | 38144827-38144829, 38144863-38144873, 38144959-38144970, 38144997, 38145123-38145132, 38145158-38145233, 38145267-38145395, 38145404-38145630, 38145637-38145638, 38145641-38145795, 38145816-38145864, 38145875-38145896, 38145920-38145937, 38145962-38145990, 38146018-38146022, 38146047-38146091, 38146098, 38146124-38146130, 38146134, 38146147-38146188, 38146200-38146219, 38146284-38146287, 38146423, 38147154-38147178, 38147225-38147233 |
| 456 | AR | X | 0.99638074556641 | 10 | 2763 | 66765159-66765168 |
| 457 | TAF1 | X | 0.99964801126364 | 2 | 5682 | 70586203-70586204 |
| 458 | PCDH19 | X | 0.99848759830611 | 5 | 3306 | 99663586-99663590 |
| 459 | XIAP | X | 0.99531459170013 | 7 | 1494 | 123040945-123040951 |
| 460 | SOX3 | X | 0.99701715137957 | 4 | 1341 | 139586144-139586147 |
| 461 | FAM58A | X | 0.98503401360544 | 11 | 735 | 152864462-152864469, 152864476-152864477, 152864480 |
| 462 | SLC6A8 | X | 0.89203354297694 | 206 | 1908 | 152954030-152954058, 152954061, 152954086-152954210, 152954229-152954278, 152959837 |
| 463 | ABCD1 | X | 0.99374441465594 | 14 | 2238 | 152990732-152990737, 152990981-152990988 |
| 464 | L1CAM | X | 0.99496555378908 | 19 | 3774 | 153135511, 153135867-153135883, 153135891 |
| 465 | MECP2 | X | 0.95925183700735 | 61 | 1497 | 153363062-153363122 |
| 466 | OPN1MW | X | 0.98173515981735 | 20 | 1095 | 153455583-153455601, 153458991 |
| 467 | OPN1MW | X | 0.98264840182648 | 19 | 1095 | 153492701-153492719 |
| 468 | FLNA | X | 0.9983635448137 | 13 | 7944 | 153588596-153588600, 153588853, 153594400-153594402, 153594407, 153596353-153596355 |
| Effect rank | Variant | Phase/ Zygosity | Allele freq | Impact | Evaluation | Summary / Info |
|---|---|---|---|---|---|---|
| 4 | FUT2-W154* | homozygous | 0.491 | Recessive protective | Insufficiently evaluated | Prioritization score: 1 Nonsense mutation |
| 4 | FUT2-G258S | homozygous | 0.509 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.954 (probably damaging) |
| 2 | PCSK9-V474I | homozygous | 0.817 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | PCSK9-G670E | homozygous | 0.888 | Unknown benign | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | TP53-P72R | homozygous | 0.628 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.127 (benign), Testable gene in GeneTests with associated GeneReview |
| 2 | KCNJ11-V337I | homozygous | 0.732 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | KCNJ11-K23E | homozygous | 0.738 | Unknown protective | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | ELAC2-S217L | homozygous | 0.273 | Complex/Other pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.025 (benign), Testable gene in GeneTests |
| 2 | CASP10-V410I | het unknown | 0.047 | Dominant protective | Insufficiently evaluated | Prioritization score: 5 Polyphen 2: 0.874 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 2 | CASP10-L522I | homozygous | 0.439 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | ERCC6-Q1413R | homozygous | 0.189 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview |
| 2 | ERCC6-R1213G | homozygous | 0.197 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 2 | ERCC6-M1097V | homozygous | 0.190 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | SP110-M579I | het unknown | 0.059 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | SP110-M523T | het unknown | 0.415 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | SP110-L425S | homozygous | 0.863 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | SP110-G299R | homozygous | 0.701 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | SP110-E207K | het unknown | 0.089 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | SP110-A206V | het unknown | 0.213 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | SP110-A128V | het unknown | 0.071 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | SP110-W112R | homozygous | 0.917 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | APOB-S4338N | het unknown | 0.802 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | APOB-E4181K | het unknown | 0.167 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | APOB-P2739L | het unknown | 0.197 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | APOB-I2313V | homozygous | 0.981 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | APOB-Y1422C | homozygous | 1.000 | Unknown benign | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | APOB-A618V | homozygous | 0.366 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1.5 | HNMT-T105I | het unknown | 0.077 | Complex/Other pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.821 (possibly damaging) |
| 1 | INSR-A2G | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | TRIM64-I58T | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | TRIM64-R162S | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown | |
| 1 | TRIM64-V238M | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | TRIM64-E242V | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | TRIM64-Q358R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | TRIM64-Q405R | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown | |
| 1 | CLECL1-S52Shift | homozygous | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | THEG-R202I | homozygous | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
| 1 | ATXN7-K264R | het unknown | 0.099 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.949 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | ATXN7-V862M | het unknown | 0.394 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | ZNF167-N494Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | SLC22A1-R61C | het unknown | 0.057 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 1 | SLC22A1-L160F | het unknown | 0.838 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | SLC22A1-M408V | het unknown | 0.640 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | TXNDC3-C208R | homozygous | 0.787 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TXNDC3-I493T | homozygous | 0.007 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.074 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | TGIF1-P83Shift | het unknown | 0.139 | Complex/Other pathogenic | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests with associated GeneReview |
| 1 | TGIF1-P292L | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TGFB1-R25P | het unknown | 0.049 | Complex/Other pathogenic | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TGFB1-P10L | het unknown | 0.648 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | KCP-H313Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | KCP-A16Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | KRTAP7-1-I61S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | KRTAP7-1-S51P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | KRTAP7-1-Y17Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ATG9B-A765Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | CYP2B6-R22C | het unknown | 0.048 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.639 (possibly damaging) |
| 1 | CYP2B6-Q172H | het unknown | 0.292 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.009 (benign) |
| 1 | CYP2B6-K262R | het unknown | 0.043 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 1 | C19orf55-G398Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | EGFR-R521K | homozygous | 0.203 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | HSH2D-S223Shift | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | MS4A14-I56Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | MS4A14-N177Y | homozygous | 0.640 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.981 (probably damaging) |
| 1 | MS4A14-G584R | homozygous | 0.574 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 1 | SCARF2-A832G | het unknown | 0.650 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | SCARF2-A814G | het unknown | 0.287 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | SCARF2-DV772EL | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | SCARF2-E764Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | SCARF2-P747Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | SCARF2-P174S | het unknown | 0.105 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | NR_027052-R29H | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | NR_027052-T53Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | NR_027052-Y63N | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | KRT16-R41C | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 5 Polyphen 2: 0.928 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | SEPT9-P145L | het unknown | 0.081 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.926 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | ABCC11-G180R | het unknown | 0.098 | Unknown benign | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.992 (probably damaging) |
| 1 | ZFYVE26-R2411H | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | ZFYVE26-N1891S | homozygous | 0.942 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | ZFYVE26-T898S | homozygous | 0.090 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests |
| 1 | AX746903-T82Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | AX746903-Q107R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | AX746903-Q107R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | GPHB5-F53Shift | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | ZNF598-E25G | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ZNF598-E17A | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ZNF598-G6Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | NR_027706-G126Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | SDHA-S45L | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | IL7R-I66T | homozygous | 0.699 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | IL7R-V138I | homozygous | 0.745 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | IL7R-I356V | homozygous | 0.294 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | GPR98-L127R | het unknown | 0.033 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.654 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | GPR98-L1093F | het unknown | 0.731 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | GPR98-V1951I | het unknown | 0.732 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | GPR98-P1987L | het unknown | 0.302 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.366 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | GPR98-Y2232C | het unknown | 0.316 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.989 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | GPR98-N2345S | het unknown | 0.288 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | GPR98-N2584S | het unknown | 0.735 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | GPR98-E3471K | het unknown | 0.758 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | GPR98-E3867K | het unknown | 0.250 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | GPR98-E5344G | homozygous | 0.937 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | GPR98-V5427M | homozygous | 0.972 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | GPR98-V5876I | homozygous | 0.432 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.94 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | NPRL3-L489Shift | homozygous | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | ADRB2-G16R | het unknown | 0.413 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 1 | ADRB2-E27Q | homozygous | 0.661 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 1 | GABRG2-I215V | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | HTT-G893R | het unknown | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | HTT-V1064I | het unknown | 0.044 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HTT-I1091M | het unknown | 0.035 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | SEBOX-L207S | het unknown | 0.839 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | SEBOX-W10Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | TCAP-R106C | het unknown | 0.004 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | KRT4-G160GAGGFGAGFGTGGFG | homozygous | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | HLA-H-D29A | homozygous | 0.071 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | PIK3R6-L609Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | CYBA-Y72H | homozygous | 0.620 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | FANCA-T1328A | het unknown | 0.051 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | FANCA-S1088F | het unknown | 0.058 | Unknown benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | FANCA-G809D | homozygous | 0.434 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | FANCA-P643A | het unknown | 0.049 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | FANCA-G501S | het unknown | 0.483 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | FANCA-A412V | het unknown | 0.059 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | FANCA-T266A | homozygous | 0.508 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | CNGA1-S3F | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | SACS-P3678A | het unknown | 0.015 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | SACS-V3369A | het unknown | 0.204 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.769 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | SACS-T458I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | SACS-N232K | het unknown | 0.086 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | B3GNT6-L316Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | B3GNT6-L335Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | NR_027251-H75Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | PLEKHA2-P389Shift | homozygous | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | ZNF761-L47Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ZNF761-I122S | homozygous | 0.686 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | ZNF761-V168I | homozygous | 0.770 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | ZNF761-G528S | het unknown | 0.381 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | ZNF761-E603Q | het unknown | 0.403 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | NR_027444-W159Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | DGKK-L1014Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | PADI6-V343Shift | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | DEFB126-P106Shift | homozygous | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | F5-M1764V | het unknown | 0.291 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | F5-P1404S | het unknown | 0.037 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | F5-L1397F | het unknown | 0.007 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | F5-K925E | het unknown | 0.244 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | F5-H865R | het unknown | 0.244 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | F5-K858R | het unknown | 0.244 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | F5-Q534R | homozygous | 0.978 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | F5-R513K | het unknown | 0.098 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | DPYD-R29C | homozygous | 0.714 | Complex/Other pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | IKBKAP-E312K | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | IKBKAP-S251G | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | VSIG10L-Q860Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | VSIG10L-R592Q | homozygous | 0.563 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | VSIG10L-M356I | homozygous | 0.562 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | VSIG10L-N3T | homozygous | 0.605 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | PHKA1-R821H | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | TCEAL6-Q175Shift | homozygous | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | HRNR-Q2781H | het unknown | 0.737 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-H2772R | het unknown | 0.436 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-A2764S | het unknown | 0.096 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-Y2746H | het unknown | 0.258 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-L2688S | homozygous | 0.197 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-C1414Y | homozygous | 0.011 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 1 | HRNR-S799T | het unknown | 0.725 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-R664Q | het unknown | 0.748 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-Y517C | het unknown | 0.110 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-G492R | het unknown | 0.748 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-E473G | homozygous | 0.950 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-Q376R | homozygous | 0.950 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-R85H | het unknown | 0.726 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.078 (benign) |
| 1 | HRNR-M1Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | CYP1B1-V432L | homozygous | 0.445 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | CYP1B1-A119S | homozygous | 0.339 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | CYP1B1-R48G | homozygous | 0.349 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | USP9Y-K1410E | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HADHB-T2TT | homozygous | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | NEFL-S472Shift | homozygous | Unknown benign | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 1 | RNASEL-D541E | homozygous | 0.475 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | RNASEL-R462Q | het unknown | 0.278 | Complex/Other pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.964 (probably damaging), Testable gene in GeneTests |
| 1 | SP100-V399Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | SP100-M433V | homozygous | 0.247 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.005 (benign) |
| 1 | SP100-M826T | het unknown | 0.821 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | CHAT-D400N | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.202 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | CHAT-V461M | homozygous | 0.961 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | IL23R-Q3H | homozygous | 0.520 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 1 | IL23R-L310P | homozygous | 0.838 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | IL23R-R381Q | het unknown | 0.048 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.875 | MTRR-I49M | het unknown | 0.451 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.875 | MTRR-S202L | het unknown | 0.328 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.75 | COMT-V158M | het unknown | 0.448 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | CILP-G1166S | het unknown | 0.734 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | CILP-Q979R | homozygous | 0.986 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | CILP-K575E | homozygous | 0.986 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | CILP-I395T | het unknown | 0.632 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | AURKA-I57V | homozygous | 0.836 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | AURKA-F31I | het unknown | 0.188 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | AKAP10-I646V | het unknown | 0.452 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | AKAP10-R249H | het unknown | 0.446 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.625 | OTOF-R1227* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Nonsense mutation, Testable gene in GeneTests with associated GeneReview | |
| 0.625 | OTOF-R82C | het unknown | 0.365 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MOGS-V62M | het unknown | 0.040 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.018 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ULK2-V370M | homozygous | 0.966 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ULK2-P242S | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | CTNS-T260I | homozygous | 0.828 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CTNS-P380A | het unknown | 0.190 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC5A6-L573F | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging) |
| 0.5 | SLC5A6-S481F | het unknown | 0.536 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.956 (probably damaging) |
| 0.5 | KCNJ12-R43H | het unknown | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.181 (benign) |
| 0.5 | KCNJ12-M71I | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) | |
| 0.5 | KCNJ12-I100V | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | KCNJ12-E139K | het unknown | 0.399 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | KCNJ12-T142N | het unknown | 0.213 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.722 (possibly damaging) |
| 0.5 | KCNJ12-G145S | het unknown | 0.425 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | KCNJ12-D173N | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.577 (possibly damaging) |
| 0.5 | KCNJ12-L211F | het unknown | 0.366 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.109 (benign) |
| 0.5 | KCNJ12-E239K | het unknown | 0.206 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | KCNJ12-E289Q | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | KCNJ12-T290M | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.01 (benign) |
| 0.5 | KCNJ12-V297I | het unknown | 0.044 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.427 (possibly damaging) |
| 0.5 | KCNJ12-M302I | het unknown | 0.038 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.99 (probably damaging) |
| 0.5 | KCNJ12-E334Del | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | KCNJ12-S343L | het unknown | 0.252 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.041 (benign) |
| 0.5 | KCNJ12-S371R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.004 (benign) | |
| 0.5 | KCNJ12-E378K | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.314 (possibly damaging) | |
| 0.5 | KCNJ12-D402E | het unknown | 0.379 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.013 (benign) |
| 0.5 | KCNJ12-S405I | het unknown | 0.402 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.101 (benign) |
| 0.5 | KIAA0513-R100H | het unknown | 0.038 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.989 (probably damaging) |
| 0.5 | ALK-D1529E | het unknown | 0.433 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALK-I1461V | homozygous | 0.989 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CCDC135-D51N | het unknown | 0.036 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.927 (probably damaging) |
| 0.5 | CCDC135-P433L | het unknown | 0.236 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | LOXL3-R375H | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.925 (probably damaging) |
| 0.5 | CD19-L174V | homozygous | 0.768 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LCT-N1639S | homozygous | 0.612 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | LCT-I362V | homozygous | 0.977 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | NOD2-V955I | het unknown | 0.068 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | FANCI-A86V | homozygous | 0.283 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FANCI-C742S | homozygous | 0.287 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALPK3-Q928R | het unknown | 0.020 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.24 (possibly damaging) |
| 0.5 | ALPK3-E1013K | het unknown | 0.020 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.883 (probably damaging) |
| 0.5 | ALPK3-P1299L | homozygous | 0.789 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NEB-I6534V | het unknown | 0.422 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-A6277P | het unknown | 0.631 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-H4431R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | NEB-R4389T | het unknown | 0.648 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-K2613N | het unknown | 0.351 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-V1491M | homozygous | 0.660 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-Y1301H | homozygous | 0.820 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-K1027N | homozygous | 0.701 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HEXA-I436V | homozygous | 0.867 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CHRNA3-R37H | het unknown | 0.036 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | SALL1-V1275I | homozygous | 0.988 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CFC1-W78R | homozygous | 0.966 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | LCAT-S232T | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.484 (possibly damaging), Testable gene in GeneTests |
| 0.5 | GCSH-S21L | homozygous | 0.751 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRRC50-K393R | het unknown | 0.378 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.683 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRRC50-P502L | het unknown | 0.301 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRRC50-T590M | het unknown | 0.012 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.011 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRRC50-L633S | het unknown | 0.273 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRRC50-L659P | het unknown | 0.270 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRRC50-S675T | het unknown | 0.274 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CNGB1-V952M | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CNGB1-R100H | het unknown | 0.757 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | KLF11-Q62R | het unknown | 0.094 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.986 (probably damaging), Testable gene in GeneTests |
| 0.5 | GLI2-A1156S | homozygous | 0.626 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GLI2-D1306N | homozygous | 0.678 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RPGRIP1L-T1143S | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RGPD4-Q1169R | het unknown | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | ZBTB45-D293E | het unknown | 0.036 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | JUP-M697L | het unknown | 0.699 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | JUP-R142H | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CACNA1A-H2480Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | CACNA1A-G1104S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | KLK13-H109Y | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.953 (probably damaging) |
| 0.5 | ACPT-P95L | het unknown | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.994 (probably damaging) |
| 0.5 | TSPAN16-L55P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | TSPAN16-S233Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | FPR1-E346A | homozygous | 0.799 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FPR1-N192K | homozygous | 0.434 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FPR1-I11T | homozygous | 0.773 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ADAMTS10-H1101Q | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ADAMTS10-T134S | homozygous | 0.787 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ADAMTS10-R62Q | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.023 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ZNF880-N106Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | ZNF880-N140NN | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | ZNF880-R198S | het unknown | 0.358 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF880-N202H | het unknown | 0.357 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF880-K471R | het unknown | 0.381 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF480-C3Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | ICAM1-G241R | het unknown | 0.075 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.948 (probably damaging) |
| 0.5 | ICAM1-K469E | het unknown | 0.349 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | UNC13A-L1121P | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | UNC13A-A53Shift | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | MYBPC2-V624I | homozygous | 0.159 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MYBPC2-I937Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | MYBPC2-R1089H | homozygous | 0.139 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ERCC2-K751Q | het unknown | 0.319 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ERCC2-D312N | het unknown | 0.235 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.032 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SIX5-V693M | het unknown | 0.343 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.086 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SIX5-P635S | het unknown | 0.401 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SIX5-L556V | homozygous | 0.871 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CARD8-Q356R | het unknown | 0.018 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.977 (probably damaging) |
| 0.5 | CARD8-C10* | het unknown | 0.289 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Nonsense mutation |
| 0.5 | PPP1R15A-A32T | het unknown | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.96 (probably damaging) |
| 0.5 | PPP1R15A-K277E | het unknown | 0.488 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PPP1R15A-G312S | het unknown | 0.216 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.458 (possibly damaging) |
| 0.5 | PPP1R15A-A316P | het unknown | 0.474 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.026 (benign) |
| 0.5 | PPP1R15A-R476S | het unknown | 0.164 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PPP1R15A-T597A | het unknown | 0.369 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF224-M118V | homozygous | 0.872 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF224-H162L | homozygous | 0.879 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.262 (possibly damaging) |
| 0.5 | ZNF224-K640E | homozygous | 0.713 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DLL3-F172C | het unknown | 0.153 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DLL3-L218P | het unknown | 0.593 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DHDH-S66N | het unknown | 0.380 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DHDH-A173Shift | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | DHDH-V247A | het unknown | 0.329 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PRX-G1132R | homozygous | 0.955 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PRX-P1083R | het unknown | 0.130 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.793 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | PRX-I921M | het unknown | 0.364 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PRX-V882A | het unknown | 0.609 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | BCKDHA-P39H | het unknown | 0.097 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | STXBP2-I526V | homozygous | 0.675 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PCSK4-A456V | het unknown | 0.038 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | PCSK4-T267M | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | COG1-N392S | het unknown | 0.530 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COG1-E453Q | het unknown | 0.065 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAI2-A558T | homozygous | 0.767 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | AK094748-D110A | het unknown | 0.049 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | AK094748-S209Shift | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | SCN4A-N1376D | het unknown | 0.602 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SCN4A-S524G | homozygous | 0.916 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SCN4A-V119I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | PLEKHA4-I37V | het unknown | 0.470 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PLEKHA4-S20Y | het unknown | 0.028 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.971 (probably damaging) |
| 0.5 | ADAM11-R141* | het unknown | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | PNPO-R116Q | het unknown | 0.053 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.953 (probably damaging), Testable gene in GeneTests |
| 0.5 | COL1A1-T1075A | homozygous | 0.971 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL1A1-P247L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | BZRAP1-H1728R | het unknown | 0.299 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 0.5 | BZRAP1-D1301N | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging) |
| 0.5 | BZRAP1-A1140P | het unknown | 0.266 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | BZRAP1-G79E | het unknown | 0.020 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.419 (possibly damaging) |
| 0.5 | GAA-D91N | het unknown | 0.024 | Recessive benign | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GAA-H199R | homozygous | 0.673 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GAA-R223H | homozygous | 0.673 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GAA-E689K | het unknown | 0.030 | Complex/Other benign | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GAA-V780I | homozygous | 0.732 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NPC1-I858V | het unknown | 0.445 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.061 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | NPC1-M642I | homozygous | 0.738 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ZNF236-S166L | het unknown | 0.013 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | ZNF236-I613V | homozygous | 0.945 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CTDP1-S61A | homozygous | 0.659 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LILRA1-V5L | het unknown | 0.121 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | LILRA1-R12G | het unknown | 0.108 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | LILRA1-S153G | het unknown | 0.201 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | LILRA1-GE261WG | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | LILRA1-R289P | het unknown | 0.178 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.5 | LILRA1-V387L | het unknown | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging) |
| 0.5 | GRIN3B-R404W | het unknown | 0.480 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.976 (probably damaging) |
| 0.5 | GRIN3B-W414R | het unknown | 0.737 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | GRIN3B-G466Shift | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | GRIN3B-T577M | het unknown | 0.434 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | GRIN3B-Q1006E | het unknown | 0.680 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.051 (benign) |
| 0.5 | GRIN3B-APAEAPPHS1028Del | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | NPHP4-R740H | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.5 | ATP8B1-A1152T | homozygous | 0.999 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LAMA3-S2834G | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DSG2-I293V | het unknown | 0.063 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | LOXHD1-A2036V | het unknown | 0.301 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | LOXHD1-R1155G | homozygous | 0.792 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | LOXHD1-R1090Q | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MYO5B-V1612M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | MYO5B-G1321E | het unknown | 0.051 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MYO5B-R882L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | MYO5B-T126A | homozygous | 0.977 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SYNE2-M1969T | homozygous | 0.741 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-A2284V | homozygous | 0.741 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-S2359N | homozygous | 0.769 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-A2395T | homozygous | 0.880 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SYNE2-S2802G | homozygous | 0.914 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.012 (benign), Testable gene in GeneTests |
| 0.5 | SYNE2-I2942V | homozygous | 0.723 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SYNE2-D3253H | homozygous | 0.740 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-H3309R | homozygous | 0.742 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | SYNE2-L5186M | het unknown | 0.580 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | NR2E3-T318Shift | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift, Testable gene in GeneTests |
| 0.5 | HPS1-G283W | het unknown | 0.059 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.026 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCC2-Y39F | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | DNMBP-C1413W | het unknown | 0.312 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.566 (possibly damaging) |
| 0.5 | DNMBP-M831T | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.987 (probably damaging) |
| 0.5 | BAG3-R71Q | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | BAG3-C151R | het unknown | 0.149 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL17A1-M703V | homozygous | 0.715 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL17A1-G428S | homozygous | 0.845 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL17A1-T210M | het unknown | 0.580 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CYP2C9-I359L | het unknown | 0.049 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.048 (benign) |
| 0.5 | GRID1-V529I | het unknown | 0.015 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.979 (probably damaging) |
| 0.5 | GRID1-M430V | het unknown | 0.065 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.021 (benign) |
| 0.5 | OPTN-K322E | homozygous | 0.991 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CUBN-L2879I | het unknown | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CUBN-T2800I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | CUBN-S2717W | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CUBN-C2162Y | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CUBN-P1559S | homozygous | 0.743 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CUBN-P389T | het unknown | 0.588 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CUBN-F253S | het unknown | 0.703 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | KIAA1462-R957G | homozygous | 0.407 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.109 (benign) |
| 0.5 | KIAA1462-E24K | het unknown | 0.030 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging) |
| 0.5 | SLC29A3-R18G | homozygous | 0.488 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SLC29A3-S158F | homozygous | 0.618 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SLC29A3-V239I | homozygous | 0.864 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SLC29A3-I326V | homozygous | 0.893 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PCDH15-P1794S | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PCDH15-R934Q | homozygous | 0.209 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | H19-G355R | homozygous | 0.372 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | H19-R229Q | het unknown | 0.018 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | H19-V94I | homozygous | 0.361 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | H19-W38R | homozygous | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TSPAN32-M91T | het unknown | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | ROM1-G118A | homozygous | 0.938 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.008 (benign), Testable gene in GeneTests |
| 0.5 | MEN1-T546A | homozygous | 0.908 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CPT1A-A275T | het unknown | 0.055 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TRPC6-A404V | het unknown | 0.085 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.937 (probably damaging), Testable gene in GeneTests |
| 0.5 | TRPC6-P15S | het unknown | 0.061 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | FAM181B-R367P | het unknown | 0.421 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FAM181B-P340S | het unknown | 0.005 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.912 (probably damaging) |
| 0.5 | FAM181B-S251R | het unknown | 0.113 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.774 (possibly damaging) |
| 0.5 | F2-T165M | het unknown | 0.094 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.346 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | PEX16-V116I | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ZBED5-I480V | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.494 (possibly damaging) |
| 0.5 | MRVI1-P186S | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | MRVI1-A70T | homozygous | 0.965 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MRVI1-I11V | het unknown | 0.772 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ABCC8-A1369S | homozygous | 0.739 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC6A5-G102S | het unknown | 0.369 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC6A5-F124S | homozygous | 0.799 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC6A5-A162G | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALX4-P102S | het unknown | 0.302 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALX4-R35T | het unknown | 0.419 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | RAG1-H249R | homozygous | 0.469 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | IDI1-C13Y | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | EDARADD-M9I | homozygous | 0.741 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | POMGNT1-M623V | homozygous | 0.940 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | STIL-H985R | homozygous | 0.279 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.648 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | STIL-A86V | homozygous | 0.595 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALG6-S306F | homozygous | 0.738 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DBT-S384G | homozygous | 0.858 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CTH-S403I | homozygous | 0.237 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | LEPRE1-G349R | het unknown | 0.065 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.805 (possibly damaging), Testable gene in GeneTests |
| 0.5 | HSPG2-V3640I | het unknown | 0.038 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HSPG2-A1503V | homozygous | 0.694 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HSPG2-N765S | homozygous | 0.933 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HSPG2-M638V | homozygous | 0.974 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | KIF1B-V1554M | het unknown | 0.012 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ZBTB48-S675A | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.711 (possibly damaging) |
| 0.5 | MTHFR-A222V | het unknown | 0.272 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.858 (probably damaging), Testable gene in GeneTests |
| 0.5 | CLCNKA-R83G | homozygous | 0.600 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CLCNKA-A447T | homozygous | 0.599 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CDA-K27Q | homozygous | 0.262 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CROCC-R7G | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CROCC-A439V | het unknown | 0.268 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | CROCC-P511S | het unknown | 0.310 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.94 (probably damaging) |
| 0.5 | CROCC-D586H | het unknown | 0.182 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.991 (probably damaging) |
| 0.5 | CROCC-R1097P | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | PTPN22-W620R | homozygous | 0.934 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF687-G259E | het unknown | 0.124 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF687-G636S | het unknown | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.949 (probably damaging) |
| 0.5 | CR1L-R97C | het unknown | 0.037 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.933 (probably damaging) |
| 0.5 | CR1L-R116G | het unknown | 0.508 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CR1L-I139V | het unknown | 0.087 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.089 (benign) |
| 0.5 | CR1L-C207Y | het unknown | 0.037 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | CR1L-G263V | het unknown | 0.037 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | CR1L-I455V | homozygous | 0.620 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CR1L-V500I | het unknown | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.03 (benign) |
| 0.5 | USH2A-I2106T | homozygous | 0.698 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-R1486K | het unknown | 0.607 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-A125T | het unknown | 0.719 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LBR-S154N | homozygous | 0.704 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AGT-M268T | homozygous | 0.561 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | AGT-T207M | het unknown | 0.108 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | PRSS38-M204V | homozygous | 0.836 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PRSS38-I224N | het unknown | 0.036 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) |
| 0.5 | CACNA1S-L458H | het unknown | 0.273 | Unknown benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ASPM-L2647I | het unknown | 0.320 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ASPM-Q2620H | het unknown | 0.051 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ASPM-S2562G | het unknown | 0.317 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ASPM-Y2494H | homozygous | 0.996 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GBA-K144R | homozygous | 0.619 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | S100A7A-R23H | het unknown | 0.026 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.922 (probably damaging) |
| 0.5 | S100A7A-A84T | het unknown | 0.209 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | RHBG-G76D | het unknown | 0.372 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | RHBG-P424Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | RHBG-H428R | het unknown | 0.637 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | XCL2-R29K | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | XCL2-H28D | het unknown | 0.026 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign) |
| 0.5 | HMCN1-I2418T | homozygous | 0.525 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests |
| 0.5 | HMCN1-E2893G | homozygous | 0.554 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.91 (probably damaging), Testable gene in GeneTests |
| 0.5 | SEC16B-A929S | homozygous | 0.246 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SEC16B-S873N | homozygous | 0.241 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.011 (benign) |
| 0.5 | SEC16B-P864A | homozygous | 0.436 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SEC16B-Q845H | homozygous | 0.194 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.958 (probably damaging) |
| 0.5 | SEC16B-H292R | homozygous | 0.809 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SEC16B-H279Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | SEC16B-H279Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | ATM-L1420F | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | ATM-N1983S | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FAM55B-V103A | homozygous | 0.125 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.871 (probably damaging) |
| 0.5 | RPGRIP1-P96Q | het unknown | 0.044 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | RPGRIP1-K192E | homozygous | 0.483 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RPGRIP1-A547S | het unknown | 0.232 | Complex/Other benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.03 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MYH6-A1130T | het unknown | 0.083 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MYH6-V1101A | het unknown | 0.461 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MYH6-G56R | het unknown | 0.083 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | JPH4-A502Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | TGM1-V518M | het unknown | 0.011 | Unknown benign | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.634 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | PCK2-S23* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Nonsense mutation, Testable gene in GeneTests | |
| 0.5 | PCK2-Q121P | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | COL4A1-T555P | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A1-V7L | het unknown | 0.291 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FNDC3A-T1017A | het unknown | 0.050 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
| 0.5 | DNAH10-S167P | het unknown | 0.609 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DNAH10-I480V | het unknown | 0.735 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DNAH10-L1631V | homozygous | 0.918 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DNAH10-L3830Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | DNAH10-R3837C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | DNAH10-I4279Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | DNAH10-F4278S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | KNTC1-K245N | het unknown | 0.154 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.289 (possibly damaging) |
| 0.5 | KNTC1-V2021G | het unknown | 0.079 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) |
| 0.5 | SGCG-R116H | het unknown | 0.103 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests |
| 0.5 | SGCG-N287S | homozygous | 0.821 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | B3GALTL-E370K | homozygous | 0.658 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FREM2-S745P | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | FREM2-F1070S | het unknown | 0.438 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | FREM2-R2066C | het unknown | 0.121 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests |
| 0.5 | FREM2-T2153S | het unknown | 0.003 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | FREM2-T2326I | het unknown | 0.726 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | BRCA2-N372H | het unknown | 0.237 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | BRCA2-V2466A | homozygous | 0.977 | Dominant benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | C14orf104-D768G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | C14orf104-E62D | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | NID2-G760V | homozygous | 0.931 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NID2-S656P | homozygous | 0.809 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NID2-P529S | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.871 (probably damaging) |
| 0.5 | NID2-G453D | het unknown | 0.665 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NID2-P22Q | homozygous | 0.739 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | STRC-Q84R | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DUOX2-S1067L | homozygous | 0.699 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | DUOX2-P138L | homozygous | 0.741 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SLC28A2-P22L | homozygous | 0.474 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SLC28A2-S75R | homozygous | 0.497 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CEP152-L914V | het unknown | 0.057 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FBN1-C472Y | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MGA-T716S | homozygous | 0.744 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MGA-C1270R | het unknown | 0.035 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | OCA2-R419Q | het unknown | 0.057 | Unknown benign | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ACOT4-A187D | het unknown | 0.069 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
| 0.5 | ACOT4-AY189QS | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | G6PC2-Y207S | het unknown | 0.006 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.996 (probably damaging) |
| 0.5 | G6PC2-V219L | het unknown | 0.411 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | G6PC2-S342C | het unknown | 0.231 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MLH3-D1105E | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | MLH3-N826D | homozygous | 0.989 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TSHR-E727D | homozygous | 0.920 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ATXN3-Q305QQQQQ | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | ATXN3-Q305QQQQQ | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | GALC-T641A | homozygous | 0.959 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GALC-I562T | het unknown | 0.524 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.167 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | HPD-T33A | homozygous | 0.902 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | OASL-V348M | het unknown | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.988 (probably damaging) |
| 0.5 | LRRK2-R50H | homozygous | 0.964 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRRK2-I723V | het unknown | 0.050 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ANO6-A128T | het unknown | 0.040 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.16 (benign) |
| 0.5 | ANO6-M728T | het unknown | 0.015 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.978 (probably damaging) |
| 0.5 | VDR-M1T | het unknown | 0.676 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests |
| 0.5 | OR10AD1-Y279H | het unknown | 0.230 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.98 (probably damaging) |
| 0.5 | OR10AD1-W198R | het unknown | 0.079 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | OR10AD1-S177N | het unknown | 0.079 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | OR10AD1-R166Q | het unknown | 0.061 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.324 (possibly damaging) |
| 0.5 | OR10AD1-R123H | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | COL2A1-V1331I | het unknown | 0.053 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL2A1-T9S | het unknown | 0.791 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | KIF21A-E1224D | het unknown | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GYS2-T546A | het unknown | 0.014 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | GYS2-M363V | homozygous | 0.739 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | GLB1L3-R163P | homozygous | 0.980 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | GLB1L3-V474M | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | GLB1L3-V532A | het unknown | 0.006 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.98 (probably damaging) |
| 0.5 | SNX19-L878R | homozygous | 0.809 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SNX19-N753S | het unknown | 0.633 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SNX19-L618F | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SNX19-V361L | het unknown | 0.712 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | WNK1-A141T | het unknown | 0.081 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | WNK1-T665I | het unknown | 0.056 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | WNK1-T1056P | het unknown | 0.850 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | WNK1-C1506S | homozygous | 0.985 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | WNK1-M1808I | het unknown | 0.432 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRTM2-D161N | het unknown | 0.029 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.853 (probably damaging) |
| 0.5 | SLCO1B3-S112A | homozygous | 0.718 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SLCO1B3-M233I | homozygous | 0.718 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.131 (benign) |
| 0.5 | VWF-D1472H | het unknown | 0.174 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | VWF-T1381A | homozygous | 0.712 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | VWF-Q852R | homozygous | 0.924 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | VWF-T789A | het unknown | 0.431 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | VWF-H484R | het unknown | 0.503 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.83 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FAM186B-T737M | het unknown | 0.020 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.932 (probably damaging) |
| 0.5 | FAM186A-W2314R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | FAM186A-R2174* | het unknown | 0.004 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | FAM186A-H2166Y | homozygous | 0.612 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FAM186A-A1720S | het unknown | 0.004 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | FAM186A-F1423L | homozygous | 0.975 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FAM186A-L1233P | homozygous | 0.607 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FAM186A-Y854H | het unknown | 0.020 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | FAM186A-A465G | homozygous | 0.966 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FAM186A-K463T | homozygous | 0.974 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FAM186A-K187Q | homozygous | 0.612 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | GNPTAB-T644M | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.762 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GLT8D2-M273V | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
| 0.5 | MMAB-M239K | homozygous | 0.598 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HNF1A-S574G | homozygous | 0.986 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TRPV4-P19S | het unknown | 0.030 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | PLEKHG7-D99G | het unknown | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | PLEKHG7-M212T | het unknown | 0.507 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.016 (benign) |
| 0.5 | BEST3-Q365P | het unknown | 0.007 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.053 (benign) |
| 0.5 | BEST3-Y43H | het unknown | 0.069 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | KRT6B-I365V | homozygous | 0.301 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | KRT6B-N227S | het unknown | 0.323 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | KRT83-H493Y | homozygous | 0.751 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | KRT6A-T552S | het unknown | 0.088 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | KRT71-R523W | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | KRT71-V464G | het unknown | 0.353 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | KRT71-I355F | het unknown | 0.012 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.961 (probably damaging) |
| 0.5 | LYZ-T88N | het unknown | 0.051 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.923 (probably damaging), Testable gene in GeneTests |
| 0.5 | MBD6-R360C | het unknown | 0.004 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | MBD6-G881R | het unknown | 0.007 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging) |
| 0.5 | GP6-F606L | het unknown | 0.807 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | GP6-R573G | het unknown | 0.740 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | GP6-P404Shift | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | GP6-K323T | homozygous | 0.801 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | GP6-P314A | het unknown | 0.486 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.121 (benign) |
| 0.5 | GP6-A249T | het unknown | 0.735 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | GP6-E237K | het unknown | 0.768 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | GP6-P219S | homozygous | 0.824 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | RGS12-M277L | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.073 (benign) |
| 0.5 | RGS12-R633Q | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.913 (probably damaging) |
| 0.5 | FLT4-R1324L | het unknown | 0.090 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NHLRC1-P111L | het unknown | 0.335 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DCDC2-S221G | homozygous | 0.478 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DCDC2-P152A | het unknown | 0.042 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | ZNF204P-K6Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | PROP1-A142T | het unknown | 0.239 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PROP1-N20S | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | F12-A207P | homozygous | 0.976 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AX746964-G175Shift | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | AX746964-K166I | het unknown | 0.628 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ABCB11-V444A | homozygous | 0.603 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCB11-V43I | het unknown | 0.002 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SH3TC2-G171E | het unknown | 0.013 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MSX2-M129T | homozygous | 0.753 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC26A2-I574T | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC26A2-T689S | het unknown | 0.197 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ZFP57-D368V | het unknown | 0.058 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-L-H17R | het unknown | 0.260 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HLA-L-I30V | het unknown | 0.261 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HLA-L-R38Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | HLA-L-A142V | het unknown | 0.261 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HLA-L-W144* | het unknown | 0.258 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Nonsense mutation |
| 0.5 | HLA-L-C172Y | het unknown | 0.253 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PRPH2-D338G | homozygous | 0.774 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PRPH2-R310K | homozygous | 0.931 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PRPH2-Q304E | homozygous | 0.774 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CUL7-Q813R | homozygous | 0.977 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKHD1-Q4048R | het unknown | 0.524 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKHD1-Q3899R | het unknown | 0.522 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKHD1-L1870V | homozygous | 0.952 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKHD1-A1262V | het unknown | 0.389 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKHD1-R760C | het unknown | 0.386 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL9A1-Q621R | homozygous | 0.389 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL9A1-E450G | het unknown | 0.003 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL9A1-S339P | het unknown | 0.479 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | EFHC1-R182H | het unknown | 0.044 | Unknown benign | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.038 (benign), Testable gene in GeneTests |
| 0.5 | COL11A2-R1667H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | COL11A2-P894L | het unknown | 0.096 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL11A2-E276K | het unknown | 0.335 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.651 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-S214N | het unknown | 0.336 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-R199H | het unknown | 0.191 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-A172T | het unknown | 0.324 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-G157A | het unknown | 0.420 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-G102R | het unknown | 0.454 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-G77E | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | HLA-DQB1-Y62H | het unknown | 0.274 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-L58Y | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | HLA-DQB1-G45A | het unknown | 0.174 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-F41Y | homozygous | 0.782 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-LL28PV | het unknown | 0.156 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-S27T | het unknown | 0.372 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-V15A | het unknown | 0.268 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-D12G | het unknown | 0.400 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MICA-A47T | het unknown | 0.042 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | MICA-Y59C | het unknown | 0.314 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MICA-L145V | het unknown | 0.174 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MICA-E148K | het unknown | 0.013 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | MICA-V152M | het unknown | 0.314 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MICA-E196K | het unknown | 0.314 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MICA-G198S | het unknown | 0.258 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MICA-T204R | het unknown | 0.106 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MICA-S229G | het unknown | 0.261 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MICA-R233W | het unknown | 0.259 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | MICA-I236T | homozygous | 0.466 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MICA-T238S | het unknown | 0.288 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MICA-R274Q | homozygous | 0.478 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MICA-G318Shift | het unknown | 0.163 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift |
| 0.5 | HSPA1L-E602K | het unknown | 0.237 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | HSPA1L-T493M | homozygous | 0.873 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | TNXB-G2518E | homozygous | 0.685 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TNXB-H1161R | homozygous | 0.477 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-C34Y | het unknown | 0.450 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-F41S | het unknown | 0.425 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-Y48F | homozygous | 0.141 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-E63G | het unknown | 0.255 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-R64K | het unknown | 0.084 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-A68V | het unknown | 0.354 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-RW70CL | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | HLA-DQA1-EF73VL | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | HLA-DQA1-SK75RQ | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | HLA-DQA1-G78R | het unknown | 0.182 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-G79Del | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | HLA-DQA1-G84F | het unknown | 0.122 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-R87T | het unknown | 0.259 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-M89I | het unknown | 0.248 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-A92T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | HLA-DQA1-M99L | het unknown | 0.086 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-Y103S | het unknown | 0.211 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-Q152H | het unknown | 0.407 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-Q152H | het unknown | 0.407 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-Q198E | het unknown | 0.390 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-M230V | homozygous | 0.700 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-Q241R | het unknown | 0.421 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DRA-V16L | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | HLA-DRA-L242V | het unknown | 0.601 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SRA1-V110RL | homozygous | 0.360 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NR_027127-W61* | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | ADH1B-H48R | homozygous | 0.963 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MANBA-T701M | homozygous | 0.552 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HADH-L86P | homozygous | 0.847 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CFI-T300A | homozygous | 0.965 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPRIN3-P390S | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.95 (probably damaging) |
| 0.5 | GPRIN3-L39V | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | ABCG2-Q141K | het unknown | 0.082 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.548 (possibly damaging) |
| 0.5 | EVC-Y258H | homozygous | 0.706 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests |
| 0.5 | EVC-T449K | homozygous | 0.852 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EVC-R576Q | het unknown | 0.309 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests |
| 0.5 | WFS1-V333I | homozygous | 0.800 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | WFS1-R611H | het unknown | 0.400 | Recessive not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ZNF518B-I916V | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | ZNF518B-S523N | homozygous | 0.990 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF518B-H266Q | het unknown | 0.020 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.987 (probably damaging) |
| 0.5 | ZNF518B-G262A | het unknown | 0.206 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.5 | YTHDC1-H183R | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.882 (probably damaging) |
| 0.5 | ZCCHC4-D72H | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.953 (probably damaging) |
| 0.5 | ZCCHC4-L396H | homozygous | 0.920 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NR3C2-V180I | homozygous | 0.899 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TDO2-N229H | het unknown | 0.036 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.851 (probably damaging) |
| 0.5 | VCAN-K1516R | homozygous | 0.499 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | VCAN-R1826H | het unknown | 0.383 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | VCAN-F2301Y | homozygous | 0.496 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | VCAN-D2937Y | het unknown | 0.388 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | WDR36-I264V | homozygous | 0.237 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | APC-V1822D | homozygous | 0.826 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | IL13-Q144R | homozygous | 0.811 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FBN2-V965I | homozygous | 0.665 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | AP3B1-V585E | homozygous | 0.932 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | PDZD2-D6N | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.955 (probably damaging) |
| 0.5 | AGA-T149S | homozygous | 0.923 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | FAT1-K4059N | homozygous | 0.995 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FAT1-Q2933P | het unknown | 0.622 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FAT1-H1273R | het unknown | 0.635 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FAT1-M1149T | het unknown | 0.005 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.92 (probably damaging) |
| 0.5 | FAT1-R1064G | het unknown | 0.829 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FAT1-V862L | het unknown | 0.778 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FAT1-F614L | het unknown | 0.783 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FAT1-V482I | het unknown | 0.460 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FAT1-S404R | het unknown | 0.547 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FAT1-V129L | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | TERT-A1062T | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH12-I284V | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | DNAH5-I766L | het unknown | 0.518 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.026 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-T558A | het unknown | 0.330 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.791 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-G24E | het unknown | 0.393 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-H12Q | homozygous | 0.924 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SIM1-A371V | het unknown | 0.100 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SIM1-P352T | het unknown | 0.100 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.365 (possibly damaging), Testable gene in GeneTests |
| 0.5 | RSPH4A-R556H | het unknown | 0.167 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | RSPH4A-L589P | homozygous | 0.701 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAI1-A8S | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | AK300656-R11* | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | BAAT-R20Q | homozygous | 0.627 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.136 (benign), Testable gene in GeneTests |
| 0.5 | ABCA1-K1587R | homozygous | 0.582 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ABCA1-R219K | het unknown | 0.393 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | IFNK-W13Shift | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | IFNK-K133E | homozygous | 0.924 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | IFNA1-V10A | het unknown | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | NCRNA00255-P39Shift | het unknown | 0.013 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | NCRNA00255-P39Shift | het unknown | 0.013 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | PLEC-T3913I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | PLEC-R2969H | homozygous | 0.307 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PLEC-S2791P | homozygous | 0.567 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PLEC-H1459R | homozygous | 0.566 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DOCK8-A22V | het unknown | 0.317 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.009 (benign), Testable gene in GeneTests |
| 0.5 | DOCK8-D63N | homozygous | 0.128 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests |
| 0.5 | DOCK8-N413S | het unknown | 0.277 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.19 (benign), Testable gene in GeneTests |
| 0.5 | DOCK8-M1114Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests | |
| 0.5 | DOCK8-A1970P | het unknown | 0.076 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests |
| 0.5 | IFNA17-H57Shift | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | IFNA16-IA132TP | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | IFNA16-T124I | het unknown | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | IFNA16-D95H | het unknown | 0.046 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.726 (possibly damaging) |
| 0.5 | IFNA16-V65E | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | IFNA16-I47V | het unknown | 0.038 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign) |
| 0.5 | SVEP1-A2750V | het unknown | 0.366 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SVEP1-L1648V | het unknown | 0.188 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SVEP1-M1444L | het unknown | 0.252 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | SVEP1-K1416Q | het unknown | 0.123 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | SVEP1-L1330M | het unknown | 0.128 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.006 (benign) |
| 0.5 | SVEP1-I1157V | het unknown | 0.183 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.907 (probably damaging) |
| 0.5 | SVEP1-K899R | het unknown | 0.259 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SVEP1-R229G | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | BSPRY-Q293H | het unknown | 0.042 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.292 (possibly damaging) |
| 0.5 | ARSE-G424S | homozygous | 0.490 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | KAL1-V534I | homozygous | 0.562 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DMD-R2937Q | homozygous | 0.957 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DMD-K2366Q | homozygous | 0.201 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.875 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DMD-D882G | homozygous | 0.650 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | XIAP-Q423P | homozygous | 0.401 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.053 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ATP7A-E1350K | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SARDH-NNK910KNE | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | SARDH-P909H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | SARDH-M648V | het unknown | 0.519 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SARDH-R614H | het unknown | 0.327 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.057 (benign), Testable gene in GeneTests |
| 0.5 | SURF6-T311M | het unknown | 0.014 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | SURF6-T175M | het unknown | 0.257 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SURF6-R163W | het unknown | 0.257 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DFNB31-N796K | homozygous | 0.181 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-V783A | homozygous | 0.412 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-H752Q | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-M613T | homozygous | 0.492 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-P562A | het unknown | 0.091 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-A440T | homozygous | 0.182 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-R364H | homozygous | 0.981 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDK5RAP2-V1540L | homozygous | 0.698 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDK5RAP2-E289Q | homozygous | 0.849 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | USP20-D359Del | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | USP20-V444I | het unknown | 0.018 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.97 (probably damaging) |
| 0.5 | SETX-I1386V | homozygous | 0.691 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SETX-G1252R | homozygous | 0.690 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SETX-D1192E | homozygous | 0.790 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | POMT1-D411E | het unknown | 0.038 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | POMT1-R713C | het unknown | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CNGB3-A807G | het unknown | 0.003 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CNGB3-T298P | het unknown | 0.643 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CNGB3-C234W | homozygous | 0.880 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RP1-N985Y | homozygous | 0.349 | Unknown benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.958 (probably damaging), Testable gene in GeneTests |
| 0.5 | RP1-C2033Y | homozygous | 0.314 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests |
| 0.5 | ZNF107-N401D | het unknown | 0.004 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.205 (possibly damaging) |
| 0.5 | MLXIPL-A358V | het unknown | 0.086 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.345 (possibly damaging) |
| 0.5 | MLXIPL-Q241H | het unknown | 0.093 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.697 (possibly damaging) |
| 0.5 | ABCB1-S893A | het unknown | 0.683 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ABCB1-N21D | het unknown | 0.074 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | AKAP9-M463I | het unknown | 0.442 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AKAP9-K1335KQ | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | AKAP9-N2792S | het unknown | 0.357 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AKAP9-P2979S | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | DDC-M17V | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PRR15-P115S | het unknown | 0.383 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.005 (benign) |
| 0.5 | PRR15-P124H | het unknown | 0.051 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | SYNE1-G8323A | het unknown | 0.376 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SYNE1-S7506G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | SYNE1-F7302V | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SYNE1-L5015M | homozygous | 0.808 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SYNE1-S4596T | homozygous | 0.793 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SYNE1-K4121R | het unknown | 0.784 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SYNE1-E4060D | het unknown | 0.566 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC22A2-S270A | homozygous | 0.881 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | COL28A1-A189G | homozygous | 0.937 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | COL28A1-Y135H | het unknown | 0.007 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | HOXA1-R73H | homozygous | 0.728 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HOXA1-H72Del | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | DNAH11-E34L | het unknown | 0.368 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-Q639R | het unknown | 0.153 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-S654C | het unknown | 0.123 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-V1023A | het unknown | 0.350 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-T1038A | homozygous | 0.816 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-N2641S | het unknown | 0.529 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-A3474T | het unknown | 0.350 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-T4177I | het unknown | 0.362 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL1A2-P549A | homozygous | 0.798 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | BC032716-Y42Shift | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | OR2F1-R122C | het unknown | 0.071 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.971 (probably damaging) |
| 0.5 | OR2F1-H137R | het unknown | 0.194 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.179 (benign) |
| 0.5 | GIMAP2-V74F | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.954 (probably damaging) |
| 0.5 | MCPH1-R171S | het unknown | 0.924 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-R304I | het unknown | 0.118 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-D392G | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-T682N | het unknown | 0.131 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | TRIM35-R456C | het unknown | 0.003 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.986 (probably damaging) |
| 0.5 | HR-Q528R | het unknown | 0.077 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.293 (possibly damaging) |
| 0.5 | HR-L526P | het unknown | 0.210 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | HR-C397Y | het unknown | 0.071 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.928 (probably damaging) |
| 0.5 | HR-G337D | het unknown | 0.281 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | CLCN1-G118W | homozygous | 0.983 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CLCN1-P727L | het unknown | 0.424 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RBM28-V319I | het unknown | 0.036 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | RBM28-E253Q | het unknown | 0.036 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.028 (benign) |
| 0.5 | MYL10-G24E | het unknown | 0.021 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.932 (probably damaging) |
| 0.5 | MLL5-G999C | het unknown | 0.033 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.961 (probably damaging) |
| 0.5 | TAS2R16-R222H | homozygous | 0.757 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TAS2R16-N172K | het unknown | 0.096 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | GCC1-Q262R | het unknown | 0.013 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.996 (probably damaging) |
| 0.5 | SLC13A1-T240M | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | SLC13A1-N174S | het unknown | 0.305 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NR3C1-N363S | het unknown | 0.022 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | TTC3-M840T | homozygous | 0.557 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TTC3-R924H | het unknown | 0.036 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | TTC3-D1751H | homozygous | 0.616 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | COL6A2-D227N | het unknown | 0.028 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.184 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL6A2-S399N | homozygous | 0.730 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL6A2-R680H | het unknown | 0.413 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | AGXT-P11L | het unknown | 0.153 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | AGXT-I340M | het unknown | 0.157 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GBE1-T507A | het unknown | 0.054 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GBE1-I334V | homozygous | 0.980 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GBE1-R190G | het unknown | 0.292 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.025 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | PCNT-G704E | homozygous | 0.894 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PCNT-V1038A | homozygous | 0.883 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PCNT-P2274L | het unknown | 0.227 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.012 (benign), Testable gene in GeneTests |
| 0.5 | PCNT-A2551V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | PCNT-E2656Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | PCNT-Q2659H | het unknown | 0.481 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.849 (possibly damaging), Testable gene in GeneTests |
| 0.5 | PCNT-Q2792R | het unknown | 0.693 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.006 (benign), Testable gene in GeneTests |
| 0.5 | COL4A3-G43R | homozygous | 0.353 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A3-L141P | homozygous | 0.774 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A3-E162G | homozygous | 0.774 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A3-P574L | homozygous | 0.385 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A3-P1109S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | DRD3-G9S | homozygous | 0.533 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | TRIB3-R153H | het unknown | 0.011 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | ITGB2-Q354H | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.543 (possibly damaging), Testable gene in GeneTests |
| 0.5 | GTSF1L-L56V | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.967 (probably damaging) |
| 0.5 | COL18A1-A288T | het unknown | 0.250 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.017 (benign), Testable gene in GeneTests |
| 0.5 | COL18A1-T379M | homozygous | 0.355 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.969 (probably damaging), Testable gene in GeneTests |
| 0.5 | FERMT1-R526K | het unknown | 0.073 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | FERMT1-R255C | het unknown | 0.064 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests |
| 0.5 | FERMT1-I160T | het unknown | 0.106 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.004 (benign), Testable gene in GeneTests |
| 0.5 | HGD-Q80H | homozygous | 0.745 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CASR-A986S | het unknown | 0.109 | Unknown benign | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.5 | CASR-E1011Q | homozygous | 0.916 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | COL4A4-S1400P | homozygous | 0.469 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A4-V1327M | homozygous | 0.445 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A4-P1004L | homozygous | 0.516 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A4-P482S | homozygous | 0.499 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH1-V441L | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | DNAH1-R1285W | het unknown | 0.035 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | DNAH1-R3744C | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | DNAH1-H3832R | homozygous | 0.996 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SLC5A1-N51S | het unknown | 0.051 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.043 (benign), Testable gene in GeneTests |
| 0.5 | SLC5A1-A411T | het unknown | 0.052 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SLC5A1-H615Q | het unknown | 0.051 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ABCA12-S777T | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ATIC-T116S | homozygous | 0.248 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | TRIOBP-S217N | homozygous | 0.544 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests |
| 0.5 | TRIOBP-Q398Del | homozygous | 0.308 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TRIOBP-N863K | homozygous | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests |
| 0.5 | TRIOBP-F1187L | homozygous | 0.347 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests |
| 0.5 | TRIOBP-H1300R | homozygous | 0.624 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.006 (benign), Testable gene in GeneTests |
| 0.5 | MICALL1-A519S | het unknown | 0.179 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MICALL1-H685R | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.989 (probably damaging) |
| 0.5 | OBSL1-R1767Q | het unknown | 0.420 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | OBSL1-Q1578R | homozygous | 0.962 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | OBSL1-E1365D | het unknown | 0.702 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | OBSL1-R723K | homozygous | 0.827 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ARSA-T391S | het unknown | 0.481 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ARSA-W193C | het unknown | 0.055 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | HPS4-Q620H | homozygous | 0.868 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | HPS4-H601Y | homozygous | 0.868 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HPS4-V547M | homozygous | 0.821 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HPS4-E224G | homozygous | 0.821 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PRODH-R521Q | homozygous | 0.904 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PRODH-P19Q | het unknown | 0.345 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | IQCF2-R4Q | het unknown | 0.049 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.966 (probably damaging) |
| 0.5 | CASP8-K14R | homozygous | 0.671 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ALS2-V368M | homozygous | 0.859 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | KIAA1671-P205T | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.005 (benign) | |
| 0.5 | KIAA1671-K439R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.872 (probably damaging) | |
| 0.5 | TTLL3-M502R | het unknown | 0.653 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TTLL3-R561* | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | SIGLEC1-A974V | het unknown | 0.486 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.011 (benign) |
| 0.5 | SIGLEC1-H919P | het unknown | 0.666 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SIGLEC1-R464H | het unknown | 0.051 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | SIGLEC1-K239R | het unknown | 0.616 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | SIGLEC1-V221M | het unknown | 0.637 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.03 (benign) |
| 0.5 | PCK1-V184L | homozygous | 0.903 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PCK1-E276K | het unknown | 0.146 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TF-G277S | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | TF-I448V | homozygous | 0.999 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SAMD10-A151V | het unknown | 0.006 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.985 (probably damaging) |
| 0.5 | SALL4-L507R | het unknown | 0.281 | Dominant not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.125 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-V30790I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | TTN-S29107G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | TTN-I27949V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | TTN-I26820T | het unknown | 0.318 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-I25199V | het unknown | 0.320 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-I23846T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | TTN-T23304A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | TTN-N23184S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | TTN-Y22998H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | TTN-A19840P | homozygous | 0.996 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-T18827I | het unknown | 0.312 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-N16125D | het unknown | 0.322 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-K15140I | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-K11752E | het unknown | 0.080 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-H11456R | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-R11395H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | TTN-G9378R | het unknown | 0.431 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-I9278V | het unknown | 0.329 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-Q7298H | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-A7111E | het unknown | 0.268 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-D6352H | het unknown | 0.028 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-R3598K | het unknown | 0.099 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-S3419N | het unknown | 0.899 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-V3261M | het unknown | 0.893 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-S2831N | het unknown | 0.036 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-M2610I | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-R1572Q | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-S1295L | homozygous | 0.950 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-K1201E | het unknown | 0.731 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SSFA2-P836L | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.992 (probably damaging) |
| 0.5 | OPA1-S158N | homozygous | 0.496 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FASTKD1-R803Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | FASTKD1-M467V | het unknown | 0.557 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.004 (benign) |
| 0.5 | NEUROD1-T45A | homozygous | 0.672 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ALG3-I107V | het unknown | 0.014 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.02 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL3A1-A698T | het unknown | 0.211 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL3A1-H1353Q | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FAM65C-L580P | homozygous | 0.712 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FAM65C-C566S | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.881 (probably damaging) |
| 0.5 | MCCC1-H464P | homozygous | 0.584 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | LRP2-I4210L | het unknown | 0.602 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
| 0.5 | LRP2-K4094E | homozygous | 0.799 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | LRP2-N83S | het unknown | 0.341 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | SLC41A3-L501Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | SLC41A3-T62A | homozygous | 0.991 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PIGT-D257A | het unknown | 0.020 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.984 (probably damaging) |
| 0.5 | KCNE1-S38G | homozygous | 0.658 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | TNIP2-E255K | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | TNIP2-R73G | het unknown | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.989 (probably damaging) |
| 0.5 | GAK-D787Y | het unknown | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.972 (probably damaging) |
| 0.5 | ZXDC-P562L | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.98 (probably damaging) |
| 0.5 | SNX21-A154T | homozygous | 0.405 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.849 (possibly damaging) |
| 0.5 | SNX21-H179P | het unknown | 0.005 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | CPN2-V536M | homozygous | 0.248 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.935 (probably damaging), Testable gene in GeneTests |
| 0.5 | CPN2-Q509R | homozygous | 0.827 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CPN2-A305T | homozygous | 0.326 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests |
| 0.375 | ITGB4-Y332C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.375 | ITGB4-L1779P | het unknown | 0.604 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | CFTR-V470M | het unknown | 0.607 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | CFTR-D1445N | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.375 | FLG-R3738H | het unknown | 0.107 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.278 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.375 | FLG-R3530S | het unknown | 0.109 | Unknown benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.375 | FLG-V3179G | het unknown | 0.147 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.375 | FLG-Y2194H | het unknown | 0.348 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | FLG-K2192Q | het unknown | 0.150 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | FLG-S2045T | het unknown | 0.201 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | FLG-H1961Q | het unknown | 0.348 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | FLG-R1891Q | het unknown | 0.107 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | FLG-A1805V | het unknown | 0.107 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | FLG-R1699C | het unknown | 0.107 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | FLG-S1482Y | het unknown | 0.107 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | FLG-R1376G | het unknown | 0.157 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | FLG-R1360H | het unknown | 0.107 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | FLG-R1203S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.375 | FLG-A1167G | het unknown | 0.320 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | FLG-P478S | het unknown | 0.158 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.375 | FLG-T454A | het unknown | 0.272 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.075 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.375 | FLG-G444R | het unknown | 0.107 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.375 | NOTCH3-A2223V | het unknown | 0.730 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | NOTCH3-A26T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.375 | MYO15A-M463V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.375 | MYO15A-C1977R | homozygous | 0.805 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.375 | MYO15A-G2018R | het unknown | 0.123 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.375 | MYO15A-Y2682F | het unknown | 0.344 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | C8orf49-G26R | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C8orf49-I81V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C8orf49-V159I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C8orf49-C194* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | ELN-G422S | het unknown | 0.332 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | NAT2-I114T | het unknown | 0.398 | Recessive pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | NAT2-R268K | het unknown | 0.581 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | POLA2-G583R | het unknown | 0.154 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.024 (benign) |
| 0.25 | SFTPC-T138N | het unknown | 0.209 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SFTPC-S186N | het unknown | 0.261 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TPO-A257S | het unknown | 0.381 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | TPO-A373S | het unknown | 0.404 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.25 | TPO-S398T | het unknown | 0.785 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.988 (probably damaging), Testable gene in GeneTests |
| 0.25 | TPO-T725P | het unknown | 0.470 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | MADD-V751M | het unknown | 0.226 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | MADD-R765Q | het unknown | 0.082 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | CDH23-G488A | het unknown | 0.122 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CDH23-S494N | het unknown | 0.248 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CDH23-N1349D | het unknown | 0.813 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CDH23-A1572T | het unknown | 0.739 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CDH23-T1996S | het unknown | 0.414 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CYP3A43-Y25Shift | het unknown | 0.148 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift |
| 0.25 | CYP3A43-P340A | het unknown | 0.137 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.925 (probably damaging) |
| 0.25 | ARMS2-R38* | het unknown | 0.121 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Nonsense mutation, Testable gene in GeneTests |
| 0.25 | SLC4A3-H157P | het unknown | 0.947 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.25 | SLC4A3-H157P | het unknown | 0.947 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.25 | SLC4A3-D867A | homozygous | 0.674 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | GDF5-S276A | het unknown | 0.359 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SMPD1-G508R | het unknown | 0.200 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ATP6V0A4-V2A | het unknown | 0.735 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SCD-M224L | het unknown | 0.404 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SERPING1-V480M | het unknown | 0.220 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests |
| 0.25 | NM_001080826-G1222S | het unknown | 0.494 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | NM_001080826-A1171APA | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | NM_001080826-S576C | het unknown | 0.296 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | NM_001080826-P567L | het unknown | 0.290 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | NM_001080826-Q406Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | NM_001080826-R402Q | het unknown | 0.321 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | NM_001080826-G350GSG | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | PLCE1-R548L | het unknown | 0.170 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests |
| 0.25 | PLCE1-R1575P | het unknown | 0.476 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | MMP9-Q279R | het unknown | 0.346 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MMP9-R574P | homozygous | 0.918 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CYP3A7-R409T | het unknown | 0.762 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | COL6A3-A3012P | het unknown | 0.835 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL6A3-M2927T | het unknown | 0.700 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | GCKR-L446P | het unknown | 0.679 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MYO3A-R319H | het unknown | 0.488 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | MYO3A-I348V | het unknown | 0.680 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | MYO3A-V369I | het unknown | 0.661 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | MYO3A-S956N | het unknown | 0.520 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | MYO3A-T1284S | het unknown | 0.395 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.002 (benign), Testable gene in GeneTests |
| 0.25 | MYO3A-R1313S | het unknown | 0.562 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | LEPR-Q223R | het unknown | 0.486 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.484 (possibly damaging), Testable gene in GeneTests |
| 0.25 | DNAH7-L3319P | homozygous | 0.964 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | DNAH7-N1257Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | DNAH7-R545C | homozygous | 0.525 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.02 (benign) |
| 0.25 | LRP8-R952Q | het unknown | 0.290 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | LRP8-D46E | het unknown | 0.523 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CPT2-V368I | het unknown | 0.456 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ALMS1-R392C | het unknown | 0.389 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ALMS1-V671G | het unknown | 0.881 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ALMS1-G1414A | het unknown | 0.389 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ALMS1-I1875V | het unknown | 0.386 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ALMS1-I2070T | het unknown | 0.137 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ALMS1-S2111R | het unknown | 0.390 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ALMS1-R2284P | het unknown | 0.390 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ALMS1-S2574N | het unknown | 0.120 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ALMS1-D2672H | het unknown | 0.129 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ALMS1-R2826S | het unknown | 0.385 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ALMS1-N2856S | het unknown | 0.386 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MCEE-A76V | het unknown | 0.268 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL11A1-S1547P | het unknown | 0.806 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL11A1-D46E | het unknown | 0.100 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ZNF462-Q1103Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | ZNF462-H2452L | homozygous | 0.134 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ATP6V1B1-T30I | het unknown | 0.159 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | ABCA4-S2255I | het unknown | 0.190 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | EIF2AK3-A704S | het unknown | 0.802 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | EIF2AK3-Q166R | het unknown | 0.732 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | EIF2AK3-S136C | het unknown | 0.198 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | CYP4B1-R173W | het unknown | 0.149 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CYP4B1-D295Shift | het unknown | 0.133 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift |
| 0.25 | CYP4B1-M332I | het unknown | 0.241 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CYP4B1-R341C | het unknown | 0.114 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CYP4B1-R376C | het unknown | 0.140 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ITGA6-A380T | het unknown | 0.316 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | C1orf167-W59R | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C1orf167-R77C | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C1orf167-S125I | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C1orf167-R221H | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C1orf167-W232R | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C1orf167-Q400* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | C1orf167-R728G | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | SCN1A-A1056T | het unknown | 0.724 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | RNF207-N573S | het unknown | 0.452 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | RNF207-G603A | het unknown | 0.199 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.006 (benign) |
| 0.25 | CLCNKB-R27L | het unknown | 0.523 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | CLCNKB-A214G | homozygous | 0.638 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | CLCNKB-A287V | homozygous | 0.811 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | CLCNKB-I419V | het unknown | 0.129 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | ADAMTS13-Q448E | het unknown | 0.297 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | FAAH-P129T | het unknown | 0.256 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.25 | TSC1-M322T | het unknown | 0.167 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | KCNQ4-H455Q | het unknown | 0.174 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.191 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | MERTK-R466K | het unknown | 0.635 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | MERTK-I518V | het unknown | 0.635 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SEPN1-C108Y | het unknown | 0.788 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SEPN1-N467K | het unknown | 0.629 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | FKTN-R203Q | het unknown | 0.263 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.166 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | NGF-A35V | het unknown | 0.370 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.123 (benign), Testable gene in GeneTests |
| 0.25 | KISS1-*139Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | KISS1-P81R | het unknown | 0.197 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CPS1-T1406N | het unknown | 0.329 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | BCAT2-T186R | het unknown | 0.144 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.548 (possibly damaging), Testable gene in GeneTests |
| 0.25 | CER1-V179I | het unknown | 0.101 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.97 (probably damaging) |
| 0.25 | CER1-V179I | het unknown | 0.101 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.97 (probably damaging) |
| 0.25 | CER1-A65G | homozygous | 0.468 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CER1-R19W | het unknown | 0.087 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.722 (possibly damaging) |
| 0.25 | TG-S734A | het unknown | 0.592 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | TG-M1028V | het unknown | 0.591 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.25 | TG-D1312G | het unknown | 0.456 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | TG-D1838N | het unknown | 0.374 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.061 (benign), Testable gene in GeneTests |
| 0.25 | TG-R1999W | het unknown | 0.395 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | TG-W2501R | het unknown | 0.614 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.031 (benign), Testable gene in GeneTests |
| 0.25 | SLC30A8-R325W | het unknown | 0.227 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PTF1A-S263P | het unknown | 0.507 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests |
| 0.25 | CHRNA2-T125A | het unknown | 0.580 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CHRNA2-T22I | het unknown | 0.148 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | GGH-A31T | het unknown | 0.210 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | GGH-C6R | het unknown | 0.228 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | TMEM67-I604V | het unknown | 0.638 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | PEX2-C184R | het unknown | 0.989 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CPO-M85I | het unknown | 0.443 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.196 (benign), Testable gene in GeneTests |
| 0.25 | CPO-S134R | het unknown | 0.493 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | CPO-S220N | het unknown | 0.036 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.25 | LHX4-N328S | het unknown | 0.406 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | FSHR-S680N | het unknown | 0.556 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | FSHR-A307T | het unknown | 0.451 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | NOTCH2-P210L | het unknown | 0.333 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CASQ2-T66A | het unknown | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | VANGL1-A116T | het unknown | 0.124 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests |
| 0.25 | LHCGR-N312S | het unknown | 0.490 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | ROR2-V819I | het unknown | 0.704 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ROR2-T245A | het unknown | 0.678 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | FMO2-D36G | het unknown | 0.066 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FMO2-S195L | het unknown | 0.384 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | THADA-C1605Y | het unknown | 0.108 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.387 (possibly damaging) |
| 0.25 | THADA-T1187A | het unknown | 0.156 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.384 (possibly damaging) |
| 0.25 | ABCG8-Y54C | het unknown | 0.318 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.01 (benign), Testable gene in GeneTests |
| 0.25 | ABCG8-V632A | het unknown | 0.839 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | IL6R-D358A | het unknown | 0.316 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.911 (probably damaging) |
| 0.25 | SLC3A1-M618I | het unknown | 0.542 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.25 | PMS2-K541E | het unknown | 0.874 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COCH-T352S | het unknown | 0.509 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SGSH-R456H | het unknown | 0.293 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | AMACR-E277K | het unknown | 0.756 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | AMACR-L201S | het unknown | 0.748 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | AMACR-G175D | het unknown | 0.381 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | AMACR-V9M | het unknown | 0.415 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | HEXB-L62S | het unknown | 0.968 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | ARSB-V376M | het unknown | 0.136 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.25 | ACOX1-I312M | het unknown | 0.505 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | BBS4-I354T | het unknown | 0.529 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TPPP-C80* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | TPPP-S35M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | ADAMTSL3-H146R | het unknown | 0.564 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.04 (benign) |
| 0.25 | ADAMTSL3-L290V | het unknown | 0.849 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ADAMTSL3-V661L | het unknown | 0.620 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | C15orf40-L132Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | C15orf40-C25R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | SLC12A7-V1026Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | SLC12A7-A408T | het unknown | 0.452 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | TTBK2-L8P | het unknown | 0.469 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MYH15-T1125A | het unknown | 0.242 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.007 (benign) |
| 0.25 | MYH15-H504Y | het unknown | 0.715 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.997 (probably damaging) |
| 0.25 | TNFRSF11A-H141Y | het unknown | 0.126 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.909 (probably damaging), Testable gene in GeneTests |
| 0.25 | TNFRSF11A-A192V | het unknown | 0.550 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SIX6-H141N | het unknown | 0.434 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | SPINK5-R711Q | het unknown | 0.545 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | IGHMBP2-L201S | het unknown | 0.777 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | IGHMBP2-T671A | het unknown | 0.246 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | LMAN1-M410L | het unknown | 0.102 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.025 (benign), Testable gene in GeneTests |
| 0.25 | GLB1-C521R | homozygous | 0.934 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | GLB1-P10L | het unknown | 0.477 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | GLB1-P10L | het unknown | 0.477 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | DSC3-R102K | het unknown | 0.327 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | DSC3-S78T | het unknown | 0.325 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.314 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | SPATA7-D2N | het unknown | 0.290 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.665 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | SPATA7-V74M | het unknown | 0.416 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | HSD17B4-R106H | het unknown | 0.362 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.547 (possibly damaging), Testable gene in GeneTests |
| 0.25 | HSD17B4-I559V | het unknown | 0.404 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.111 (benign), Testable gene in GeneTests |
| 0.25 | CCR2-V64I | het unknown | 0.114 | Unknown protective | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.25 | SLC28A1-V189I | het unknown | 0.303 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SLC28A1-Q237K | het unknown | 0.204 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SDHA-V657I | het unknown | 0.195 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.011 (benign), Testable gene in GeneTests |
| 0.25 | MAPT-P202L | het unknown | 0.165 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | MAPT-D285N | het unknown | 0.167 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | MAPT-V289A | het unknown | 0.167 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MAPT-R370W | het unknown | 0.156 | Unknown benign | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | MAPT-S447P | het unknown | 0.166 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | UGT2B15-K523T | homozygous | 0.495 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | UGT2B15-V195I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | UGT2B15-Y85D | het unknown | 0.508 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | UGT2B7-Y268H | het unknown | 0.207 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-M2313I | homozygous | 0.921 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-S2207R | homozygous | 0.986 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-S2137F | homozygous | 0.905 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-Y2079Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | PKD1L2-A2054T | het unknown | 0.134 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-Y2048S | het unknown | 0.121 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-P2045L | het unknown | 0.325 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-Q2035R | het unknown | 0.140 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-M1866V | homozygous | 0.955 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-G1847R | homozygous | 0.568 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-Q1701H | het unknown | 0.435 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-N1330D | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | PKD1L2-S1326P | homozygous | 0.830 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-T1048A | homozygous | 0.678 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-Q999H | homozygous | 0.355 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-R998C | homozygous | 0.354 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-L711P | homozygous | 0.806 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-P512L | homozygous | 0.754 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-K416Q | homozygous | 0.783 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-P301A | homozygous | 0.353 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-R252W | homozygous | 0.461 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-N236Shift | homozygous | 0.389 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift |
| 0.25 | PKD1L2-E221G | homozygous | 0.773 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-V183I | het unknown | 0.192 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-L173S | het unknown | 0.349 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-Q120L | het unknown | 0.577 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-K77N | het unknown | 0.272 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-W73R | het unknown | 0.634 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-V20A | het unknown | 0.635 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | TLR6-S249P | het unknown | 0.695 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MPDU1-A229T | het unknown | 0.173 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | IDUA-R105Q | het unknown | 0.140 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.023 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | IDUA-A361T | het unknown | 0.171 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TNFRSF13B-P251L | het unknown | 0.116 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.183 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | SLC2A9-P350L | het unknown | 0.378 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SLC2A9-R294H | het unknown | 0.149 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests |
| 0.25 | SLC2A9-G25R | het unknown | 0.429 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | ITGA2B-I874S | het unknown | 0.380 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | DHODH-K7Q | het unknown | 0.542 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.004 (benign) |
| 0.25 | TAT-P15S | het unknown | 0.175 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests |
| 0.25 | LITAF-I92V | het unknown | 0.164 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ABAT-Q56R | het unknown | 0.514 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | TLR3-K163T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | TLR3-L412F | het unknown | 0.213 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.991 (probably damaging) |
| 0.25 | UNC13D-K867E | het unknown | 0.496 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | UNC13D-A59T | het unknown | 0.017 | Unknown benign | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | PALB2-Q559R | het unknown | 0.135 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TSEN54-K347N | het unknown | 0.535 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.968 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | TSEN54-A437V | het unknown | 0.659 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | TK2-K30R | het unknown | 0.237 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | BRIP1-S919P | het unknown | 0.612 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | PLXND1-Y1919* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | PLXND1-S1542N | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PLXND1-L1412V | het unknown | 0.261 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PLXND1-H894R | homozygous | 0.990 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PLXND1-M870V | het unknown | 0.488 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | BBS12-R386Q | het unknown | 0.416 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | BBS12-D467N | het unknown | 0.171 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CETP-V422I | het unknown | 0.589 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | PAX9-A240P | het unknown | 0.311 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SUMF1-S63N | het unknown | 0.192 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests |
| 0.25 | WISP3-Q74H | het unknown | 0.335 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SLCO1B1-N130D | het unknown | 0.528 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | LAMA2-R619H | het unknown | 0.272 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | LAMA2-A2585V | homozygous | 0.637 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | EYA4-G277S | het unknown | 0.386 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | AIM1-A73T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | AIM1-E1196A | het unknown | 0.930 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.015 (benign) |
| 0.25 | COL6A1-R850H | het unknown | 0.341 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | NPHS1-E117K | het unknown | 0.227 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests |
| 0.25 | LMBRD1-D469E | het unknown | 0.313 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL6A2-A68V | het unknown | 0.164 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | LCA5-L24S | het unknown | 0.839 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | SOD2-V16A | het unknown | 0.476 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | DPAGT1-I393V | het unknown | 0.390 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CCM2-V120I | het unknown | 0.135 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | ALG8-N222S | het unknown | 0.172 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | MYO7A-S1666C | het unknown | 0.588 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MYO7A-L1954I | het unknown | 0.549 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | NPEPL1-L127Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | NPEPL1-L513V | het unknown | 0.677 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | GARS-P42A | het unknown | 0.744 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MTMR2-K3T | het unknown | 0.240 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CD3EAP-Q504K | het unknown | 0.259 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.25 | DLAT-A43V | het unknown | 0.306 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | DLAT-V318A | het unknown | 0.502 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | DLAT-D451N | het unknown | 0.280 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | ALG9-V289I | het unknown | 0.263 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.907 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL9A3-A435E | het unknown | 0.271 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.568 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | ACAT1-A5P | het unknown | 0.209 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.137 (benign), Testable gene in GeneTests |
| 0.25 | CELA1-Q243R | het unknown | 0.107 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CELA1-L210Shift | het unknown | 0.156 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift |
| 0.25 | CELA1-M59V | het unknown | 0.241 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.24 (possibly damaging) |
| 0.25 | CELA1-R44W | het unknown | 0.136 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CELA1-Y5P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | CELA1-V3Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | GM2A-I59V | het unknown | 0.606 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | GM2A-M69V | het unknown | 0.722 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | EP300-I997V | het unknown | 0.207 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | C6orf201-R20P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C6orf201-K28Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | MUT-I671V | het unknown | 0.608 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | GRM6-Q59P | het unknown | 0.616 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SUCLA2-S199T | het unknown | 0.741 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | NIPAL4-R213G | het unknown | 0.449 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | SCO2-R20P | het unknown | 0.629 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | ATP7B-V1140A | het unknown | 0.585 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ATP7B-R952K | het unknown | 0.575 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ATP7B-K832R | het unknown | 0.555 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.461 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | ATP7B-V456L | het unknown | 0.405 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | ATP7B-S406A | het unknown | 0.401 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | NDUFS7-P23L | het unknown | 0.538 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.25 | F13A1-V35L | het unknown | 0.227 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | DSP-R1738Q | het unknown | 0.199 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.295 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | USHBP1-V525M | het unknown | 0.238 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | USHBP1-M439V | het unknown | 0.294 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | USHBP1-R9* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | TULP1-K261N | het unknown | 0.844 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TULP1-T67R | het unknown | 0.905 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | KIF6-W719R | het unknown | 0.507 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.01 (benign) |
| 0.25 | KIF6-R551K | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.25 | PEX6-P939Q | het unknown | 0.430 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | BC036909-I114M | homozygous | 0.798 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | BC036909-V76Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | MAN2B1-R337Q | het unknown | 0.373 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.027 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | MAN2B1-T312I | het unknown | 0.458 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.045 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | MAN2B1-L278V | het unknown | 0.321 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | LMNB2-S245F | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | LMNB2-E242Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | MYH9-I1626V | het unknown | 0.153 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | PRKCSH-A291T | het unknown | 0.159 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.25 | TCOF1-V887A | het unknown | 0.192 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0 | SERPINA1-E288V | het unknown | 0.030 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 5 Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0 | MBL2-G54D | het unknown | 0.104 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests |
Input file format: CGIVAR
Genome build: b37
Genome coverage: 2,780,193,467 bases (97.3% of callable positions, 90.3% of total positions)
Coding region coverage: 32,392,094 bases (97.3% of all genes, 97.9% of genes with clinical testing available)
Chromosomes: chr1, chr10, chr11, chr12, chr13, chr14, chr15, chr16, chr17, chr18, chr19, chr2, chr20, chr21, chr22, chr3, chr4, chr5, chr6, chr7, chr8, chr9, chrM, chrX, chrY