Variant report for huF5F075
- Data source: huF5F075: var-GS000040194-ASM.tsv.bz2
- This report: evidence.pgp-hms.org/genomes?7664abd053a0f7ece72bd2a8e953438860bbc851
- Person ID: huF5F075
- public profile: my.pgp-hms.org/profile/huF5F075
- Download: source data, dbSNP and nsSNP report (109 MB)
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Log file:
| Row number | Variant | Clinical Importance | Evidence | Impact | Allele freq | Summary | Sufficient |
|---|---|---|---|---|---|---|---|
| 1 | APOE-C130R | High | Well-established | Well-established pathogenic Complex/Other, Heterozygous | 0.135392 | This is generally known as the ApoE4 allele of ApoE and is associated with increased risk of Alzheimer's. 20-25% of individuals are heterozygous for this variant, and 1-2% are homozygous. Data from Khachaturian et al. suggests an average 7% of all individuals developed Alzheimer's by the age of 80; when this is split by ApoE4 status: 10% of ApoE4 heterozygotes (3% increased attributable risk), 40% of ApoE4 homozygotes (33% increased attributable risk), and 5% of non-carriers (2% decreased attributable risk). Notably, their model suggests 70-75% of people would eventually develop Alzheimer's by the age of 100 regardless of ApoE4 genotype (and 25-30% are resistant, regardless of genotype), but that ApoE4 variants shift the disease onset to occur significantly earlier (4 years earlier for heterozygous carriers, 13 years for homozygotes). | 1 |
| 2 | VWF-R854Q | Moderate | Likely | Likely pathogenic Recessive, Carrier (Heterozygous) | 0.00408998 | Causes type 2N von Willebrand disease in a recessive manner. This defect in coagulation can manifest as excessive bleeding during surgery. | 1 |
| 3 | COL4A1-Q1334H | Low | Likely | Likely pathogenic Dominant, Heterozygous | 0.324689 | This common variant has been associated with arterial stiffness and, in Japanese, a small increased risk of myocardial infarction (MI, a.k.a. heart attack). This last observation supported a dominant effect for this variant and, assuming a lifetime risk of 15% for MI, we estimate carriers have an additional risk of 0.5-3%. | 1 |
| 4 | 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 |
| 5 | 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 |
| 6 | MBL2-R52C | Low | Likely | Likely pathogenic Recessive, Carrier (Heterozygous) | 0.048615 | 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 D. See G54D (variant B) and G57E (variant C). | 1 |
| 7 | APOA5-S19W | Low | Likely | Likely pathogenic Unknown, Heterozygous | 0.0646151 | This variant, also known as APOA5*3, is associated with higher plasma triglyceride concentrations but no significant correlation with coronary artery disease itself has been found. | 1 |
| 8 | ELAC2-S217L | Low | Uncertain | Uncertain pathogenic Complex/Other, Heterozygous | 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 | 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 |
| 10 | H6PD-R453Q | Low | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | 0.308886 | This common variant may have a small pathogenic effect by contributing to cortisone reductase deficiency (a rare abnormality) when homozygous and combined with a serious pathogenic variant. The same authors have tested and ruled out a contribution to polycystic ovary syndrome (similar phenotype, more common disease). | 1 |
| 11 | 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 |
| 12 | 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 |
| 13 | HFE-H63D | Low | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | 0.109965 | There have been some hypotheses that this variant contributes to causing hereditary hemochromatosis, possibly as a compound heterozygote, but some others treat it as a polymorphism. Cys282Tyr is the classic causal variant and itself has very low penetrance. Mouse studies indicates this variant has a similar but weaker effect; if it has any effect at all its penetrance may be quite low and/or require modifier alleles. | 1 |
| 14 | SP110-L425S | Low | Uncertain | Uncertain pathogenic Unknown, Heterozygous | 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 |
| 15 | ABCC6-R1268Q | Low | Uncertain | Uncertain pharmacogenetic Unknown, Heterozygous | 0.218907 | This common polymorphism appears to not have a significant phenotypic impact. A few studies report weak but significant associations with plasma lipids (in Inuits) and thalidomide toxicity. | 1 |
| 16 | FUT2-W154X | Moderate | Well-established | Well-established protective Recessive, Carrier (Heterozygous) | 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 |
| 17 | NPC1-H215R | Low | Likely | Likely protective Complex/Other, Heterozygous | 0.295687 | This variant is associated with a reduced risk of obesity, with an additive effect of -0.084 BMI per allele (an average of 0.54 pounds less, per allele, in a 5'6" individual). | 1 |
| 18 | CFH-V62I | Low | Likely | Likely protective Complex/Other, Heterozygous | 0.391616 | Associated with a decreased risk for age related macular degeneration (ARMD). Homozygotes for this have a 4-5% decreased attributable risk (3-4% vs. average 8% risk), heterozygotes have slightly lower than average risk (7%). Non-carriers have an increased risk (12-13%). ARMD impairs sharp vision as age progresses. While there is no cure, treatment can slow progression of the disease and environmental factors (smoking and obesity) contribute to higher risk. | 1 |
| 19 | ABCG5-R50C | Low | Likely | Likely protective Unknown, Heterozygous | 0.0684142 | This variant has a mild protective effect on blood cholesterol. It is associated with slightly lower total and LDL cholesterol levels. | 1 |
| 20 | 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 |
| 21 | TGFB1-T263I | Low | Uncertain | Uncertain protective Dominant, Heterozygous | 0.0205429 | Carriers may be less likely to have cleft lip and palate congenital deformity. | 1 |
| 22 | TYR-R402Q | Low | Well-established | Well-established benign Complex/Other, Heterozygous | 0.204964 | This is a frequent pigmentation polymorphism in Europeans that affects function of the Tyrosinase gene. It is associated with blue instead of green eyes and sun sensitivity. For the most part this variant is benign, but many individuals with ocular albinism (which affects only the eyes) carry this variant along with another more severe variant in the same gene. | 1 |
| 23 | ADA-D8N | Low | Likely | Likely benign Dominant, Heterozygous | 0.0295359 | This common variant is reported to reduce adenosine deaminase enzyme activity. It has been associated with an increased tendency for non-REM sleep -- more slow wave sleep, less nocturnal wakings, and a stronger negative impact of sleep deprivation. A role for this gene and variant was previously proposed for autism susceptibility, but this is controversial and was not replicated by later studies. | 1 |
| 24 | COL9A2-T246M | Low | Likely | Likely benign Unknown, Heterozygous | 0.0252835 | Probably benign. | 1 |
| 25 | NLRP3-V200M | Low | Likely | Likely benign Unknown, Heterozygous | Reported to cause familial cold urticaria by Hoffman et al, in a dominant manner. However the variant is quite common (1 in 50 Europeans is a carrier) while the disease is extremely rare (<1 in 1 million) -- therefore the variant can't be causing this effect. | 1 | |
| 26 | COL6A3-D2831H | Low | Likely | Likely benign Unknown, Heterozygous | 0.0678565 | Probably benign, reported by Pan et al. as a presumed-nonpathogenic variant in the gene. | 1 |
| 27 | CACNA1S-L458H | Low | Likely | Likely benign Unknown, Homozygous | 0.27282 | Common polymorphism | 1 |
| 28 | 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 | |
| 29 | 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 |
| 30 | LOXL1-R141L | Low | Uncertain | Uncertain benign Complex/Other, Homozygous | 0.255899 | Associated with exfoliative glaucoma & syndrome (XFG & XFS) in various populations, but with contradicting results (protective in Caucasians, pathogenic in Japanese). Based on this it seems the variation itself -- although it affects protein structure -- is not itself causing disease. Instead it is likely associated with other nearby causal variants. As such, it is evaluated as benign by GET-Evidence (which focuses on reporting causal variants). See detailed variant report for disease risk associations. | 1 |
| 31 | RPGRIP1-A547S | Low | Uncertain | Uncertain benign Complex/Other, Homozygous | 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 |
| 32 | VWF-G2705R | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0460123 | Probably benign, seems to be considered an uncommon polymorphism. | 1 |
| 33 | RNASEH2B-I309Shift | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0234375 | This variant is predicted to be highly disruptive. Although other disruptive variants in this gene are reported to cause Aicardi-Goutieres syndrome in a recessive manner (a rare, fatal childhood disease), those variants were upstream of this position, and this variant is too common to be consistent with causing that disease (2% allele frequency). Based on this, it is tentatively evaluated as benign. | 1 |
| 34 | APOB-Y1422C | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.999628 | This position is almost certainly an error in the HG18 reference sequence. | 1 |
| 35 | WDR36-H212P | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.000465809 | Probably benign. | 1 |
| 36 | TAS2R38-I296V | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.463376 | This variant is associated with "taster" status of PTC, along with 49P and 262A. Due to linkage disequilibrium, the independent effects of positions 296 and 262 is unclear. The presence of 49P confers taster status in a dominant fashion, but in the absence of 49P, the presence of 262A/296V is still positively associated with tasting PTC. | 1 |
| 37 | PKP2-L366P | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.221231 | This variant is a benign polymorphism. | 1 |
| 38 | PCSK9-G670E | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.888269 | This variant is likely benign. | 1 |
| 39 | GFAP-D295N | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0333767 | Reported as a nonpathogenic polymorphism. | 1 |
| 40 | PTCH1-P1315L | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.29631 | Common polymorphism, presumed benign. | 1 |
| 41 | RP1-N985Y | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 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 |
| 42 | TAS2R38-A49P | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.431121 | This variant is strongly associated with causing the "taster" phenotype of phenylthiocarbamine (PTC) in a dominant manner. | 1 |
| 43 | MAPT-R370W | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.155549 | Probably benign. | 1 |
| 44 | 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 |
| 45 | TPCN2-G734E | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.286166 | Pigmentation allele. | 1 |
| Row number | Variant | Prioritization score | Allele freq | Num of articles | Zygosity and Prioritization Score Reasons | Sufficient |
|---|
Exome coverage: 32323430 / 33282720 = 97.12%
| Row number | Gene | Chromosome | Coverage | Missing | Length | Missing regions |
|---|---|---|---|---|---|---|
| 1 | AGRN | 1 | 0.61616161616162 | 2356 | 6138 | 955553-955753, 957603-957652, 957669-957670, 957676, 957705-957716, 957727-957732, 957760-957801, 957838-957842, 970689-970690, 970698-970704, 976045-976047, 976071-976083, 976120-976166, 976173-976260, 976553-976647, 976665-976755, 976764, 976894-976903, 976927, 976937-976953, 976988-976991, 977071-977082, 977387-977434, 977461-977479, 978627-978633, 978676-978703, 978722, 978732-978759, 978768-978811, 978828-978837, 978921, 979050, 979053-979077, 979094-979112, 979247, 979316-979323, 979335-979382, 979398, 979505, 979538, 979604-979637, 979726-979732, 979810-979819, 980541-980563, 980780-980782, 980818, 981239-981256, 981368, 981371, 981377-981385, 981606, 981777-981806, 981855, 981886-981888, 981894, 981901, 981905, 981912-981949, 981974-981981, 982104-982115, 982203, 982206, 982212-982261, 982264-982266, 982713-982752, 982980-982989, 983035, 983062, 983183, 983219, 983224-983225, 983228-983230, 983236, 983270, 983409, 983418-983425, 983437-983440, 983478, 983484-983492, 983515-983531, 983568-983572, 983585-983588, 983598-983678, 983687-983745, 984247-984330, 984407, 984418-984429, 984616-984637, 984667-984749, 984789, 984795-984803, 984830-984831, 984957-984963, 985055-985126, 985159-985175, 985333-985349, 985355-985361, 985623-985630, 985633, 985668-985700, 985807-985824, 985852-985891, 985899-985947, 986181-986213, 986633-986636, 986644, 986660-986694, 986708-986746, 986833-986859, 986867-986903, 986932-986946, 986956-987003, 987108-987128, 987157-987158, 987167-987195, 989145, 989168, 989174-989178, 989206-989208, 989220-989224, 989302, 989828-989829, 989856, 989904-989911, 990211-990235, 990280, 990342-990361 |
| 2 | GABRD | 1 | 0.8233995584989 | 240 | 1359 | 1950863-1950930, 1956423-1956453, 1957177, 1959701, 1960564-1960575, 1960603-1960641, 1961066-1961070, 1961074, 1961082-1961084, 1961164, 1961426-1961460, 1961479-1961511, 1961603, 1961703, 1961714-1961721 |
| 3 | PEX10 | 1 | 0.96432212028542 | 35 | 981 | 2337931-2337937, 2340023-2340024, 2343841-2343844, 2343861-2343864, 2343873, 2343884-2343897, 2343911-2343913 |
| 4 | NPHP4 | 1 | 0.96589581873394 | 146 | 4281 | 6038330-6038473, 6046241, 6046303 |
| 5 | ESPN | 1 | 0.75867446393762 | 619 | 2565 | 6485016-6485079, 6485085-6485142, 6485188, 6485199-6485204, 6485209-6485211, 6485214-6485220, 6485231, 6485238-6485294, 6488304, 6488322, 6488325, 6488333, 6488378-6488392, 6488426-6488432, 6488461-6488479, 6500386-6500392, 6500413-6500436, 6500452, 6500485, 6500712, 6500775-6500798, 6500829-6500868, 6501032, 6501059-6501065, 6505726-6505738, 6505776-6505798, 6505817, 6505848-6505854, 6505897-6505937, 6508701-6508733, 6508760-6508766, 6508828-6508857, 6508882-6508888, 6508922-6508928, 6508973-6508988, 6509050-6509060, 6509103, 6509139-6509145, 6511703-6511709, 6511767-6511774, 6511927-6511942, 6512106-6512133, 6517316-6517323 |
| 6 | PLEKHG5 | 1 | 0.99184697397303 | 26 | 3189 | 6530867-6530868, 6532630-6532643, 6532654-6532657, 6534531, 6534640, 6557380-6557383 |
| 7 | PEX14 | 1 | 0.9647266313933 | 40 | 1134 | 10684435, 10684443, 10684447, 10689600, 10689679-10689701, 10689749-10689753, 10689987-10689989, 10690000-10690001, 10690040-10690042 |
| 8 | TARDBP | 1 | 0.99437751004016 | 7 | 1245 | 11082356-11082362 |
| 9 | MASP2 | 1 | 0.80446385249879 | 403 | 2061 | 11102938-11102941, 11102968-11102981, 11102984-11102987, 11103059, 11103396-11103442, 11103461-11103508, 11103531-11103564, 11103576-11103592, 11105469-11105474, 11105489-11105514, 11105539-11105592, 11106616-11106636, 11106664-11106672, 11106696-11106711, 11106744-11106758, 11106766-11106767, 11106950, 11106975-11106982, 11106985-11106988, 11106997-11107023, 11107050-11107061, 11107123-11107155 |
| 10 | MTHFR | 1 | 0.98173515981735 | 36 | 1971 | 11853987-11853990, 11854104, 11861315-11861316, 11861319-11861327, 11863100-11863119 |
| 11 | PLOD1 | 1 | 0.98946886446886 | 23 | 2184 | 12026333-12026340, 12030750-12030757, 12030824-12030830 |
| 12 | CLCNKA | 1 | 0.98788759689922 | 25 | 2064 | 16356970-16356991, 16357030-16357031, 16357147 |
| 13 | CLCNKB | 1 | 0.95542635658915 | 92 | 2064 | 16378693-16378728, 16378774-16378799, 16378858-16378887 |
| 14 | ATP13A2 | 1 | 0.99322607959356 | 24 | 3543 | 17313051, 17313598-17313617, 17320274-17320275, 17320279 |
| 15 | HSPG2 | 1 | 0.99241044323012 | 100 | 13176 | 22149821-22149822, 22150623-22150629, 22154631-22154645, 22156024-22156025, 22186073, 22186491-22186495, 22211150-22211153, 22217082, 22263648-22263710 |
| 16 | WNT4 | 1 | 0.92708333333333 | 77 | 1056 | 22469339-22469415 |
| 17 | FUCA1 | 1 | 0.98429693076374 | 22 | 1401 | 24194421, 24194700, 24194731, 24194736-24194739, 24194755-24194768, 24194772 |
| 18 | SEPN1 | 1 | 0.90107913669065 | 165 | 1668 | 26126722-26126879, 26126898-26126904 |
| 19 | KCNQ4 | 1 | 0.96072796934866 | 82 | 2088 | 41249766-41249785, 41249802-41249806, 41249853-41249889, 41249935-41249947, 41250067-41250073 |
| 20 | LEPRE1 | 1 | 0.99954771596563 | 1 | 2211 | 43232348 |
| 21 | POMGNT1 | 1 | 0.99949571356531 | 1 | 1983 | 46662405 |
| 22 | ALG6 | 1 | 0.99869281045752 | 2 | 1530 | 63876916-63876917 |
| 23 | COL11A1 | 1 | 0.99835074216603 | 9 | 5457 | 103364249-103364251, 103471852, 103471857-103471861 |
| 24 | GSTM1 | 1 | 0.67427701674277 | 214 | 657 | 110230496-110230531, 110230854, 110231302, 110231691, 110231700, 110231714, 110231721-110231726, 110231874-110231947, 110232893-110232921, 110232979-110232988, 110233076-110233128, 110233138 |
| 25 | HSD3B2 | 1 | 0.97497765862377 | 28 | 1119 | 119964932-119964959 |
| 26 | NOTCH2 | 1 | 0.98017799352751 | 147 | 7416 | 120539665-120539714, 120539778-120539784, 120539913-120539939, 120547962-120547968, 120548025, 120548051, 120548055, 120548091-120548097, 120572544-120572575, 120611957-120611967, 120612003-120612004, 120612006 |
| 27 | FLG | 1 | 0.99089118660758 | 111 | 12186 | 152278406-152278437, 152279378-152279410, 152281290, 152281350-152281356, 152283236, 152283272, 152284066-152284090, 152284331, 152284334, 152284339, 152284344, 152285241-152285247 |
| 28 | GBA | 1 | 0.99006828057107 | 16 | 1611 | 155207994-155208009 |
| 29 | F5 | 1 | 0.99430711610487 | 38 | 6675 | 169510337-169510343, 169510380, 169510475, 169510499-169510527 |
| 30 | CFH | 1 | 0.9883658008658 | 43 | 3696 | 196716353-196716395 |
| 31 | CFHR1 | 1 | 0.99798590130916 | 2 | 993 | 196801042, 196801078 |
| 32 | USH2A | 1 | 0.99993593439682 | 1 | 15609 | 215916628 |
| 33 | GJC2 | 1 | 0.76060606060606 | 316 | 1320 | 228345460-228345465, 228345520-228345521, 228345635-228345673, 228345975, 228346008, 228346024-228346060, 228346070-228346073, 228346128-228346172, 228346240-228346245, 228346294-228346308, 228346314-228346315, 228346337-228346353, 228346376-228346443, 228346460-228346487, 228346492-228346493, 228346496-228346499, 228346541-228346544, 228346559, 228346621-228346626, 228346647, 228346651-228346658, 228346673, 228346705-228346722 |
| 34 | ACTA1 | 1 | 0.99206349206349 | 9 | 1134 | 229567917-229567921, 229568114-229568117 |
| 35 | MTR | 1 | 0.99894681411269 | 4 | 3798 | 237038026, 237060942-237060944 |
| 36 | NET1 | 10 | 0.99664991624791 | 6 | 1791 | 5454695-5454698, 5454757, 5454761 |
| 37 | PHYH | 10 | 0.99508357915438 | 5 | 1017 | 13342010-13342014 |
| 38 | PTF1A | 10 | 0.99594731509625 | 4 | 987 | 23481629, 23481671, 23481700, 23482156 |
| 39 | RET | 10 | 0.97757847533632 | 75 | 3345 | 43572707-43572779, 43598057, 43606902 |
| 40 | EGR2 | 10 | 0.9958071278826 | 6 | 1431 | 64573471-64573476 |
| 41 | CDH23 | 10 | 0.99811058074781 | 19 | 10056 | 73439210, 73439213-73439216, 73447404-73447407, 73447460-73447466, 73461954, 73462405, 73462409 |
| 42 | BMPR1A | 10 | 0.99937460913071 | 1 | 1599 | 88683146 |
| 43 | GLUD1 | 10 | 0.97972570065593 | 34 | 1677 | 88854083-88854087, 88854480-88854491, 88854510-88854526 |
| 44 | HPS1 | 10 | 0.98243114909782 | 37 | 2106 | 100177367-100177403 |
| 45 | FBXW4 | 10 | 0.99757869249395 | 3 | 1239 | 103454358-103454360 |
| 46 | SUFU | 10 | 0.99587628865979 | 6 | 1455 | 104263995-104264000 |
| 47 | HTRA1 | 10 | 0.91337491337491 | 125 | 1443 | 124221173, 124221187-124221270, 124221321-124221325, 124221356-124221373, 124221387-124221390, 124221430-124221433, 124221485-124221492, 124221498 |
| 48 | HRAS | 11 | 0.89298245614035 | 61 | 570 | 532713-532752, 533475, 533478-533480, 533500, 533784-533785, 533839, 534235-534246, 534271 |
| 49 | TALDO1 | 11 | 0.92998027613412 | 71 | 1014 | 763352-763358, 763364-763414, 763885, 763921-763932 |
| 50 | SLC25A22 | 11 | 0.8858024691358 | 111 | 972 | 792001-792004, 792199, 792307-792313, 792393-792394, 792399, 792575-792610, 792631-792660, 792675, 792891, 792917-792921, 792930-792931, 792980-792988, 794784-794794, 794893 |
| 51 | PNPLA2 | 11 | 0.96303630363036 | 56 | 1515 | 819719-819724, 819749-819758, 819782, 819825-819833, 819854, 823998-824007, 824031-824037, 824344-824346, 824351, 824523-824524, 824684-824688, 824805 |
| 52 | CTSD | 11 | 0.9362389023406 | 79 | 1239 | 1775353-1775363, 1780765-1780767, 1785022-1785052, 1785056-1785089 |
| 53 | TNNI2 | 11 | 0.99817850637523 | 1 | 549 | 1861760 |
| 54 | TNNT3 | 11 | 0.55469755469755 | 346 | 777 | 1944278, 1944785-1944802, 1947925-1947929, 1950373, 1951042-1951046, 1954951-1954968, 1954972, 1954992-1955029, 1955051-1955059, 1955171-1955237, 1955562-1955567, 1955570, 1955580, 1955612-1955675, 1955817-1955819, 1955841, 1955845, 1955852, 1955856-1955862, 1955878-1955885, 1956100-1956119, 1956146-1956149, 1958215-1958233, 1959668-1959692, 1959701-1959722 |
| 55 | IGF2 | 11 | 0.35443037974684 | 459 | 711 | 2154217-2154418, 2154757-2154817, 2154838-2154860, 2154871, 2154893-2154895, 2156603, 2156642-2156649, 2156665-2156699, 2156705-2156759, 2161365-2161390, 2161413-2161435, 2161451-2161471 |
| 56 | TH | 11 | 0.31301587301587 | 1082 | 1575 | 2185463-2185587, 2185597-2185622, 2186462-2186509, 2186536-2186572, 2186578-2186579, 2186590, 2186925-2186993, 2187232-2187288, 2187710-2187779, 2187863-2187871, 2187879-2187998, 2188117-2188200, 2188212-2188254, 2188257-2188262, 2188665-2188715, 2189096-2189131, 2189153-2189154, 2189321-2189365, 2189380-2189390, 2189724-2189747, 2189779, 2189782, 2189801-2189825, 2189838, 2189842, 2189853-2189855, 2189892, 2190880-2190884, 2190891-2190920, 2190948, 2190957, 2190962, 2190974-2191000, 2191015-2191021, 2191025-2191030, 2191037, 2191057-2191073, 2191088-2191101, 2191920-2191937, 2191940, 2191947, 2191951-2191980, 2192927-2192949 |
| 57 | KCNQ1 | 11 | 0.89807976366322 | 207 | 2031 | 2466334-2466431, 2466513-2466515, 2466524, 2466530-2466558, 2466587-2466644, 2466697-2466714 |
| 58 | CDKN1C | 11 | 0.36593059936909 | 603 | 951 | 2905243-2905256, 2905900-2906266, 2906282-2906306, 2906315-2906367, 2906392-2906454, 2906464, 2906489-2906530, 2906596, 2906601-2906628, 2906698-2906706 |
| 59 | HBD | 11 | 0.98423423423423 | 7 | 444 | 5255652-5255658 |
| 60 | SMPD1 | 11 | 0.99683544303797 | 6 | 1896 | 6411936-6411941 |
| 61 | ABCC8 | 11 | 0.99894648124737 | 5 | 4746 | 17498301-17498305 |
| 62 | PEX16 | 11 | 0.98943323727185 | 11 | 1041 | 45939270-45939277, 45939282-45939284 |
| 63 | MYBPC3 | 11 | 0.99633986928105 | 14 | 3825 | 47370001-47370007, 47371468, 47372127-47372132 |
| 64 | SLC22A12 | 11 | 0.98796630565584 | 20 | 1662 | 64361218-64361223, 64367228-64367232, 64367266-64367271, 64367281-64367283 |
| 65 | PYGM | 11 | 0.9996045867932 | 1 | 2529 | 64525910 |
| 66 | CABP4 | 11 | 0.97826086956522 | 18 | 828 | 67222948, 67222954, 67222957, 67222962-67222963, 67223075-67223079, 67223088, 67223133, 67223669-67223674 |
| 67 | AIP | 11 | 0.76535750251762 | 233 | 993 | 67256808-67256844, 67256921-67256926, 67257509-67257536, 67257597-67257623, 67257647, 67257659-67257669, 67257811-67257826, 67257833-67257879, 67257901, 67257918, 67258259-67258270, 67258288-67258308, 67258327, 67258372, 67258382, 67258391, 67258435-67258440, 67258450-67258464 |
| 68 | NDUFS8 | 11 | 0.99210110584518 | 5 | 633 | 67799792-67799796 |
| 69 | TCIRG1 | 11 | 0.99197753710389 | 20 | 2493 | 67808806, 67810278, 67810290, 67811718-67811723, 67811789, 67811794-67811797, 67811804-67811808, 67817238 |
| 70 | LRP5 | 11 | 0.98019801980198 | 96 | 4848 | 68080183-68080273, 68131361-68131365 |
| 71 | IGHMBP2 | 11 | 0.99865861837693 | 4 | 2982 | 68671459, 68704532-68704533, 68704536 |
| 72 | MYO7A | 11 | 0.79106498194946 | 1389 | 6648 | 76883794-76883795, 76883837-76883838, 76883845-76883850, 76883886-76883931, 76885808-76885811, 76885825-76885862, 76885887-76885956, 76886422-76886438, 76886447, 76886450, 76886457-76886486, 76886503-76886504, 76888595-76888677, 76890091-76890175, 76890781-76890999, 76891420-76891527, 76892426-76892510, 76892524-76892613, 76892630-76892635, 76892997-76893200, 76893469-76893524, 76893542-76893566, 76893573-76893616, 76893622-76893645, 76894113-76894125, 76894146-76894188, 76895704-76895716, 76895754-76895760, 76900413, 76900465-76900467, 76901065-76901085, 76901126-76901132, 76901184, 76901808-76901809, 76901849-76901855, 76901902-76901912, 76903273-76903278, 76903288-76903292, 76903304 |
| 73 | DYNC2H1 | 11 | 0.99845500193125 | 20 | 12945 | 103043816-103043835 |
| 74 | APOA1 | 11 | 0.99129353233831 | 7 | 804 | 116706792-116706798 |
| 75 | ACAD8 | 11 | 0.99839743589744 | 2 | 1248 | 134132477-134132478 |
| 76 | VWF | 12 | 0.99218194740583 | 66 | 8442 | 6131926-6131932, 6131955-6131982, 6132003-6132033 |
| 77 | ATN1 | 12 | 0.99888049258326 | 4 | 3573 | 7045892-7045894, 7045915 |
| 78 | TUBA1A | 12 | 0.96491228070175 | 16 | 456 | 49522269, 49522287, 49522308-49522314, 49522383-49522389 |
| 79 | KRT81 | 12 | 0.97364953886693 | 40 | 1518 | 52683946, 52684899-52684905, 52685168-52685199 |
| 80 | KRT86 | 12 | 0.99452429842574 | 8 | 1461 | 52696045-52696051, 52699033 |
| 81 | KRT6B | 12 | 0.97699115044248 | 39 | 1695 | 52845598-52845604, 52845662-52845686, 52845798-52845804 |
| 82 | KRT6C | 12 | 0.97522123893805 | 42 | 1695 | 52865925, 52867190, 52867257-52867263, 52867321-52867346, 52867457-52867463 |
| 83 | KRT6A | 12 | 0.9811209439528 | 32 | 1695 | 52886772-52886796, 52886908-52886914 |
| 84 | GNS | 12 | 0.9957805907173 | 7 | 1659 | 65152976, 65152980-65152985 |
| 85 | ATXN2 | 12 | 0.88736681887367 | 444 | 3942 | 112036616-112036622, 112036657-112036712, 112036718-112036830, 112036853-112036854, 112036869-112036873, 112036881-112036887, 112036910-112036944, 112036951-112037074, 112037081, 112037084-112037086, 112037114-112037116, 112037169-112037175, 112037187-112037240, 112037254-112037280 |
| 86 | B3GALTL | 13 | 0.99866399465598 | 2 | 1497 | 31774236, 31774239 |
| 87 | BRCA2 | 13 | 0.99990250560593 | 1 | 10257 | 32911595 |
| 88 | FREM2 | 13 | 0.99968454258675 | 3 | 9510 | 39261568-39261570 |
| 89 | ZIC2 | 13 | 0.95872420262664 | 66 | 1599 | 100634399-100634408, 100634591-100634599, 100635008-100635010, 100637701-100637717, 100637805-100637807, 100637810, 100637824-100637840, 100637842, 100637846, 100637850, 100637853-100637855 |
| 90 | COL4A1 | 13 | 0.99560878243513 | 22 | 5010 | 110959334-110959355 |
| 91 | F7 | 13 | 0.68239700374532 | 424 | 1335 | 113760165-113760195, 113760206-113760207, 113760209-113760211, 113760214, 113760218, 113765004-113765026, 113765044-113765048, 113765093-113765120, 113765140-113765154, 113768238-113768260, 113769974-113770013, 113770030-113770043, 113770067-113770076, 113771789-113771806, 113771814, 113771863, 113772730, 113772743, 113772812-113772902, 113772920-113772977, 113773014-113773041, 113773144-113773151, 113773167, 113773174-113773187, 113773209, 113773248-113773250, 113773297, 113773322 |
| 92 | F10 | 13 | 0.98295841854124 | 25 | 1467 | 113777183-113777199, 113777222, 113798247, 113798372-113798376, 113803806 |
| 93 | GRK1 | 13 | 0.98167848699764 | 31 | 1692 | 114321777, 114321780, 114322061, 114322147-114322150, 114325912, 114325923-114325933, 114325953-114325956, 114426070-114426077 |
| 94 | TEP1 | 14 | 0.99923896499239 | 6 | 7884 | 20850469, 20856116-20856120 |
| 95 | PABPN1 | 14 | 0.99674267100977 | 3 | 921 | 23790681-23790683 |
| 96 | MYH6 | 14 | 0.99948453608247 | 3 | 5820 | 23869543-23869545 |
| 97 | MYH7 | 14 | 0.99982782369146 | 1 | 5808 | 23894009 |
| 98 | FOXG1 | 14 | 0.87278911564626 | 187 | 1470 | 29236674-29236700, 29236743-29236802, 29236830-29236832, 29236835-29236871, 29236878-29236884, 29236892-29236944 |
| 99 | MGAT2 | 14 | 0.99925595238095 | 1 | 1344 | 50088447 |
| 100 | C14orf104 | 14 | 0.99880668257757 | 3 | 2514 | 50100676, 50100745, 50101117 |
| 101 | VSX2 | 14 | 0.98710865561694 | 14 | 1086 | 74706442-74706448, 74706461-74706467 |
| 102 | ESRRB | 14 | 0.99869024230517 | 2 | 1527 | 76964680-76964681 |
| 103 | POMT2 | 14 | 0.99911229471815 | 2 | 2253 | 77786986-77786987 |
| 104 | ATXN3 | 14 | 0.9963167587477 | 4 | 1086 | 92537317, 92537355-92537357 |
| 105 | AMN | 14 | 0.39574155653451 | 823 | 1362 | 103389045-103389068, 103390083-103390111, 103394776-103394787, 103394818-103394838, 103394846-103394850, 103395095-103395102, 103395110-103395120, 103395131, 103395146-103395147, 103395194, 103395200, 103395211-103395268, 103395283-103395284, 103395290-103395306, 103395458-103395466, 103395487-103395536, 103395561-103395578, 103395588, 103395765-103395770, 103395796-103395864, 103395873, 103395992, 103396001-103396007, 103396009, 103396017-103396024, 103396039-103396043, 103396052-103396053, 103396064-103396074, 103396261-103396342, 103396366-103396380, 103396397-103396423, 103396502-103396664, 103396743-103396774, 103396791-103396810, 103396813, 103396819-103396823, 103396913-103396915, 103396924-103397017 |
| 106 | INF2 | 14 | 0.60133333333333 | 1495 | 3750 | 105167703-105167717, 105167843-105167878, 105167909-105167944, 105167968-105168009, 105168061-105168068, 105169515-105169544, 105169640-105169658, 105169699-105169729, 105169758-105169765, 105170260-105170286, 105172385-105172404, 105172440-105172470, 105172491, 105172496-105172501, 105172504, 105172507, 105173370, 105173373, 105173590-105173597, 105173680-105173686, 105173695-105173793, 105173816, 105173821-105173831, 105173856-105174223, 105174244-105174272, 105174295-105174309, 105174318-105174339, 105174773-105174829, 105174894-105174896, 105174907-105174924, 105175068-105175069, 105175647-105175649, 105175957-105175958, 105175967, 105175993-105176035, 105176426, 105176430-105176459, 105177276, 105177279-105177280, 105177289, 105177300-105177304, 105177416-105177419, 105177428-105177437, 105177459-105177523, 105178019-105178026, 105178784, 105178811-105178813, 105178868-105178874, 105179165-105179167, 105179192-105179214, 105179249-105179280, 105179316-105179329, 105179552, 105179597-105179646, 105179817-105179851, 105179916-105179917, 105179922-105179943, 105180562, 105180774-105180791, 105180840, 105180854, 105180908, 105180912, 105180988-105181033, 105181050-105181080, 105181107-105181143, 105181162-105181165, 105181622-105181652 |
| 107 | NIPA1 | 15 | 0.82020202020202 | 178 | 990 | 23086234-23086411 |
| 108 | CHST14 | 15 | 0.98496905393457 | 17 | 1131 | 40763413, 40763425, 40763436, 40763473, 40763517-40763529 |
| 109 | STRC | 15 | 0.9923048048048 | 41 | 5328 | 43910863-43910903 |
| 110 | SPG21 | 15 | 0.99676375404531 | 3 | 927 | 65262456-65262458 |
| 111 | CLN6 | 15 | 0.99465811965812 | 5 | 936 | 68500487-68500491 |
| 112 | HCN4 | 15 | 0.97480620155039 | 91 | 3612 | 73660054-73660059, 73660148-73660162, 73660212, 73660305-73660308, 73660339, 73660345-73660350, 73660463-73660480, 73660483, 73660487, 73660491, 73660523-73660559 |
| 113 | PSTPIP1 | 15 | 0.25259792166267 | 935 | 1251 | 77310498-77310510, 77310527, 77310588, 77310798-77310799, 77310804-77310813, 77310826-77310872, 77317641, 77317922-77317945, 77320215-77320255, 77320896-77320993, 77321876-77321877, 77321896-77321915, 77322843-77322876, 77322882-77322922, 77323525-77323619, 77324639-77324666, 77324672-77324735, 77325203-77325293, 77327849-77327904, 77328143-77328276, 77329386-77329517 |
| 114 | POLG | 15 | 0.98897849462366 | 41 | 3720 | 89876824-89876864 |
| 115 | MESP2 | 15 | 0.91708542713568 | 99 | 1194 | 90319601-90319603, 90319606-90319608, 90319632-90319655, 90319859-90319883, 90320135-90320165, 90320173, 90320239-90320250 |
| 116 | IGF1R | 15 | 0.99975633528265 | 1 | 4104 | 99192890 |
| 117 | HBZ | 16 | 0.8951048951049 | 45 | 429 | 204073-204095, 204273-204293, 204322 |
| 118 | HBA2 | 16 | 0.997668997669 | 1 | 429 | 222997 |
| 119 | GNPTG | 16 | 0.9161220043573 | 77 | 918 | 1401967-1401969, 1401990-1402015, 1402240-1402252, 1402265-1402289, 1402298-1402307 |
| 120 | CLCN7 | 16 | 0.74234904880066 | 623 | 2418 | 1496632-1496678, 1497009-1497027, 1497039-1497049, 1497059-1497062, 1497393-1497400, 1497418-1497430, 1497493, 1497496-1497508, 1497526-1497569, 1497656-1497687, 1498356-1498359, 1498382-1498404, 1498422-1498453, 1498682-1498688, 1498718-1498764, 1498977-1499005, 1499035, 1499048-1499092, 1499293-1499305, 1499321-1499328, 1500498-1500509, 1500546-1500552, 1500584-1500624, 1500633-1500667, 1501648-1501655, 1501709-1501710, 1502771, 1502841-1502860, 1502892-1502894, 1503865-1503869, 1504412-1504416, 1505163, 1506140-1506161, 1507327-1507338, 1509114-1509123, 1509135-1509138, 1524866, 1524877-1524906, 1524923, 1524935-1524936 |
| 121 | IGFALS | 16 | 0.65217391304348 | 672 | 1932 | 1840601-1840606, 1840629, 1840632-1840635, 1840663-1840666, 1840731-1840735, 1840740-1840752, 1840796, 1840799-1840803, 1840810, 1840874-1840898, 1840973-1841075, 1841092, 1841103-1841109, 1841145-1841190, 1841229-1841240, 1841246-1841249, 1841266-1841270, 1841273, 1841290-1841338, 1841372-1841412, 1841435-1841440, 1841508-1841512, 1841568-1841606, 1841617, 1841634-1841659, 1841701-1841705, 1841771-1841783, 1841810-1841813, 1841824, 1841829-1841832, 1841836, 1841860-1841869, 1841878-1841889, 1841912-1841966, 1842015-1842022, 1842082-1842107, 1842111, 1842141-1842164, 1842241-1842242, 1842252-1842255, 1842279-1842329, 1842371-1842402, 1842425, 1842444-1842447, 1842464, 1843645, 1843653 |
| 122 | GFER | 16 | 0.5453074433657 | 281 | 618 | 2034220-2034473, 2034788, 2034858, 2034874-2034875, 2034884, 2034887-2034899, 2035922-2035926, 2035935-2035936, 2035977-2035978 |
| 123 | TSC2 | 16 | 0.49926253687316 | 2716 | 5424 | 2098634, 2098699-2098715, 2098749-2098754, 2103402, 2103417, 2106197-2106203, 2108776, 2110714-2110734, 2110774-2110806, 2112551-2112595, 2114359, 2114365-2114373, 2115555-2115556, 2115561, 2115563-2115595, 2121511-2121513, 2121534-2121558, 2121563, 2121579, 2121591-2121601, 2121605-2121606, 2121785-2121793, 2121807, 2121845-2121893, 2121904-2121925, 2122242-2122259, 2122333-2122364, 2122889, 2124285-2124296, 2124321-2124322, 2124325, 2124330-2124332, 2124343, 2124346-2124350, 2124364-2124371, 2124386-2124390, 2125800-2125807, 2125865, 2125868, 2125889-2125893, 2126099, 2126104, 2126132-2126171, 2126492, 2126536-2126538, 2126555-2126586, 2127628-2127707, 2129033-2129053, 2129085-2129086, 2129097, 2129126-2129197, 2129277-2129282, 2129285-2129301, 2129307-2129308, 2129336-2129389, 2129411-2129429, 2129558-2129670, 2130166-2130167, 2130178-2130186, 2130192-2130260, 2130268-2130378, 2131596-2131603, 2131621-2131703, 2131709, 2131722-2131799, 2132437-2132505, 2133696-2133817, 2134229-2134601, 2134610-2134611, 2134617, 2134627-2134637, 2134671-2134675, 2134678-2134711, 2134952-2135027, 2135231-2135323, 2136194-2136300, 2136310-2136380, 2136733-2136872, 2137864-2137942, 2138049-2138140, 2138228-2138241, 2138252-2138326, 2138447-2138450, 2138462-2138470, 2138477-2138483, 2138490-2138500, 2138523-2138611 |
| 124 | PKD1 | 16 | 0.01223667905824 | 12754 | 12912 | 2139728-2140195, 2140286-2140591, 2140675-2140809, 2140885-2141175, 2141424-2141598, 2141782-2141907, 2142048-2142189, 2142481-2142522, 2142530-2142536, 2142543-2142571, 2142580-2142581, 2142592-2142593, 2142955-2143010, 2143029-2143094, 2143545-2143599, 2143610, 2143622-2143709, 2143719-2143739, 2143812-2143944, 2143961-2144014, 2144093-2144211, 2147149-2147242, 2147320-2147423, 2147439-2147504, 2147748-2147781, 2147869-2147886, 2147892-2147985, 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, 2158253-2161872, 2162341-2162474, 2162789-2162964, 2163162-2163293, 2164171-2164926, 2165379-2165626, 2165993-2166101, 2166116-2166119, 2166530-2166645, 2166834-2167054, 2167490-2167673, 2167792-2168463, 2168677-2168846, 2169115-2169186, 2169308-2169379, 2185476-2185498, 2185504-2185616, 2185622-2185690 |
| 125 | ABCA3 | 16 | 0.99491691104594 | 26 | 5115 | 2333216, 2333294, 2334284-2334290, 2334351-2334353, 2334980, 2342160, 2347767-2347773, 2347789, 2354104, 2367688-2367690 |
| 126 | MEFV | 16 | 0.99829497016198 | 4 | 2346 | 3304508, 3304526, 3304638, 3304644 |
| 127 | CREBBP | 16 | 0.99959066721244 | 3 | 7329 | 3778440-3778442 |
| 128 | GLIS2 | 16 | 0.59428571428571 | 639 | 1575 | 4382385-4382392, 4382450, 4383353-4383391, 4383411-4383428, 4383483-4383489, 4384802-4384815, 4384853-4384880, 4384901, 4384931-4384964, 4385070, 4385123-4385125, 4385134-4385154, 4385325-4385338, 4386726-4386744, 4386814-4386817, 4386820-4386831, 4386874-4386929, 4386966, 4386978, 4386993, 4386998, 4387001-4387007, 4387047-4387206, 4387228-4387260, 4387302-4387445, 4387462, 4387465, 4387476-4387483, 4387494 |
| 129 | ALG1 | 16 | 0.83082437275986 | 236 | 1395 | 5121894-5121902, 5127929-5127948, 5128796-5128802, 5128841-5128879, 5129753-5129774, 5130958-5131005, 5132563-5132607, 5134813-5134852, 5134877-5134882 |
| 130 | ABCC6 | 16 | 0.9290780141844 | 320 | 4512 | 16256881, 16256988-16256990, 16256994-16256997, 16259489-16259494, 16259503-16259557, 16259626-16259648, 16259790, 16263503-16263522, 16263537-16263559, 16263586-16263595, 16263605-16263662, 16263691-16263708, 16267155-16267180, 16267191-16267203, 16269784-16269803, 16271318, 16271323-16271347, 16271372-16271378, 16271415-16271418, 16317270, 16317277 |
| 131 | COG7 | 16 | 0.99697362732382 | 7 | 2313 | 23403701-23403703, 23403719-23403720, 23436139-23436140 |
| 132 | PHKG2 | 16 | 0.999180999181 | 1 | 1221 | 30768329 |
| 133 | SLC12A3 | 16 | 0.99870675719366 | 4 | 3093 | 56921936-56921939 |
| 134 | CNGB1 | 16 | 0.99840255591054 | 6 | 3756 | 58001032-58001037 |
| 135 | TK2 | 16 | 0.99891774891775 | 1 | 924 | 66583905 |
| 136 | HSD11B2 | 16 | 0.86945812807882 | 159 | 1218 | 67465152-67465297, 67465322-67465334 |
| 137 | LCAT | 16 | 0.9697656840514 | 40 | 1323 | 67974283, 67976399, 67976472-67976474, 67976477, 67976485, 67976968-67976989, 67977112-67977115, 67977959-67977965 |
| 138 | CDH3 | 16 | 0.96867469879518 | 78 | 2490 | 68713861, 68714949, 68714972, 68718668-68718694, 68719119-68719145, 68719163-68719165, 68719242, 68725672-68725674, 68725783-68725794, 68725824-68725825 |
| 139 | COG8 | 16 | 0.97281131049483 | 50 | 1839 | 69364749, 69364753-69364762, 69364784-69364814, 69366736-69366743 |
| 140 | HP | 16 | 0.93529893529894 | 79 | 1221 | 72088552-72088554, 72092154-72092178, 72092191-72092237, 72093017, 72093029-72093030, 72093033 |
| 141 | MLYCD | 16 | 0.96288798920378 | 55 | 1482 | 83932775-83932798, 83932900, 83932908-83932910, 83933000-83933006, 83933088-83933106, 83933108 |
| 142 | FOXF1 | 16 | 0.98684210526316 | 15 | 1140 | 86544830, 86544961-86544974 |
| 143 | FOXC2 | 16 | 0.99667994687915 | 5 | 1506 | 86601507, 86601511-86601512, 86601865-86601866 |
| 144 | JPH3 | 16 | 0.97908322207388 | 47 | 2247 | 87723410, 87723425-87723429, 87723439, 87723475-87723478, 87723585-87723596, 87723602-87723606, 87723753-87723771 |
| 145 | CYBA | 16 | 0.77210884353741 | 134 | 588 | 88709763-88709809, 88709835-88709837, 88709846-88709879, 88709938-88709945, 88712582-88712605, 88717366-88717368, 88717371-88717372, 88717375-88717382, 88717394, 88717406-88717408, 88717421 |
| 146 | APRT | 16 | 0.51565377532228 | 263 | 543 | 88876106-88876144, 88876162-88876168, 88876208-88876229, 88876478-88876499, 88876526-88876532, 88876553-88876556, 88876844-88876857, 88876862, 88876936, 88876946, 88876964, 88877972-88878020, 88878036-88878037, 88878040-88878043, 88878056-88878064, 88878228-88878307 |
| 147 | GALNS | 16 | 0.83683875079669 | 256 | 1569 | 88884415-88884435, 88884446-88884510, 88884524-88884532, 88888997-88889001, 88889027-88889037, 88889114, 88889117-88889118, 88891178, 88891182-88891184, 88891243-88891277, 88893239, 88902183, 88907421, 88907440-88907452, 88907460, 88907464, 88907477-88907478, 88907481, 88909114-88909117, 88909197-88909198, 88909211-88909213, 88923166-88923192, 88923240-88923285 |
| 148 | SPG7 | 16 | 0.99832495812395 | 4 | 2388 | 89575002, 89576898, 89620354-89620355 |
| 149 | FANCA | 16 | 0.99702380952381 | 13 | 4368 | 89882961-89882968, 89882980-89882984 |
| 150 | TUBB3 | 16 | 0.98817442719882 | 16 | 1353 | 90001728, 90001733-90001745, 90001894, 90002193 |
| 151 | CTNS | 17 | 0.95261845386534 | 57 | 1203 | 3559781-3559793, 3559823-3559826, 3559831-3559832, 3559880, 3560048-3560071, 3561299-3561311 |
| 152 | CHRNE | 17 | 0.98245614035088 | 26 | 1482 | 4802168-4802173, 4802648-4802657, 4802766-4802771, 4804106-4804109 |
| 153 | PITPNM3 | 17 | 0.99008547008547 | 29 | 2925 | 6358701, 6358744-6358747, 6358855, 6381308, 6459705-6459726 |
| 154 | ACADVL | 17 | 0.9989837398374 | 2 | 1968 | 7123994-7123995 |
| 155 | GUCY2D | 17 | 0.98067632850242 | 64 | 3312 | 7906376-7906384, 7906393, 7906414-7906467 |
| 156 | RAI1 | 17 | 0.99807725922042 | 11 | 5721 | 17697094-17697096, 17697099-17697105, 17697615 |
| 157 | MYO15A | 17 | 0.94902293967715 | 540 | 10593 | 18022218-18022255, 18022476-18022477, 18022597-18022607, 18022630, 18022634-18022636, 18022826-18022832, 18023237, 18023635-18023643, 18023729-18023761, 18023850-18023857, 18023865, 18023882-18023883, 18023908-18023918, 18023949-18023985, 18023995, 18024013, 18024023-18024027, 18024034-18024045, 18024048, 18024054-18024063, 18024089-18024101, 18024132-18024159, 18024185-18024198, 18024222-18024223, 18024226-18024254, 18024269-18024270, 18024281-18024286, 18024325-18024371, 18024385-18024387, 18024397-18024408, 18024418, 18024429-18024478, 18024542-18024563, 18024589-18024614, 18024623-18024628, 18024678-18024713, 18024789, 18024855-18024864, 18024932-18024953, 18025004-18025007, 18025067-18025073, 18025397-18025401 |
| 158 | UNC119 | 17 | 0.9820193637621 | 13 | 723 | 26879357-26879368, 26879411 |
| 159 | SLC6A4 | 17 | 0.99630216587427 | 7 | 1893 | 28543228-28543234 |
| 160 | HNF1B | 17 | 0.99581839904421 | 7 | 1674 | 36104826-36104832 |
| 161 | TCAP | 17 | 0.96825396825397 | 16 | 504 | 37822055-37822063, 37822356-37822362 |
| 162 | KRT10 | 17 | 0.99259259259259 | 13 | 1755 | 38975308-38975319, 38978536 |
| 163 | KRT14 | 17 | 0.83579985905567 | 233 | 1419 | 39738752, 39738760, 39739487-39739515, 39739531-39739551, 39741304-39741309, 39742627-39742648, 39742787, 39742799, 39742807, 39742829-39742872, 39742883-39742936, 39743011-39743054, 39743079-39743086 |
| 164 | KRT16 | 17 | 0.83403656821378 | 236 | 1422 | 39766192-39766202, 39766219-39766246, 39766280-39766281, 39766761-39766767, 39767642-39767648, 39768490-39768531, 39768658-39768664, 39768740-39768771, 39768782-39768858, 39768895-39768917 |
| 165 | KRT17 | 17 | 0.83679753656659 | 212 | 1299 | 39776936, 39776993, 39777314-39777338, 39778001, 39778722, 39779214-39779222, 39779229, 39779266-39779284, 39780344-39780359, 39780391, 39780414-39780446, 39780513-39780567, 39780621-39780640, 39780663-39780670, 39780673, 39780681, 39780725-39780742, 39780761 |
| 166 | STAT5B | 17 | 0.99830795262267 | 4 | 2364 | 40384080-40384083 |
| 167 | NAGLU | 17 | 0.99865591397849 | 3 | 2232 | 40688543-40688545 |
| 168 | BRCA1 | 17 | 0.99911582670203 | 5 | 5655 | 41223068-41223069, 41223073-41223075 |
| 169 | GRN | 17 | 0.99494949494949 | 9 | 1782 | 42429394-42429399, 42429593-42429595 |
| 170 | ITGA2B | 17 | 0.99615384615385 | 12 | 3120 | 42452434, 42460940-42460943, 42460979-42460983, 42461052, 42461055 |
| 171 | PLEKHM1 | 17 | 0.99716177861873 | 9 | 3171 | 43552534-43552540, 43552717, 43552921 |
| 172 | MAPT | 17 | 0.99442299442299 | 13 | 2331 | 44055793, 44055795-44055796, 44055798, 44055806, 44061237, 44061240-44061246 |
| 173 | COL1A1 | 17 | 0.99226393629124 | 34 | 4395 | 48276608-48276641 |
| 174 | TRIM37 | 17 | 0.9972366148532 | 8 | 2895 | 57105912-57105919 |
| 175 | ACE | 17 | 0.98163733741393 | 72 | 3921 | 61554462-61554532, 61554578 |
| 176 | COG1 | 17 | 0.99966021066938 | 1 | 2943 | 71189438 |
| 177 | USH1G | 17 | 0.9963924963925 | 5 | 1386 | 72916513-72916517 |
| 178 | TSEN54 | 17 | 0.89373814041746 | 168 | 1581 | 73512643-73512644, 73512647-73512656, 73512827-73512857, 73512866-73512868, 73512879, 73512884, 73512893-73512899, 73512905-73512943, 73512963-73512991, 73513090-73513105, 73513115, 73513132-73513149, 73513314, 73518289-73518290, 73518293-73518299 |
| 179 | ITGB4 | 17 | 0.99085756079722 | 50 | 5469 | 73749863-73749871, 73749902, 73749990, 73750030, 73751797, 73751884, 73751890, 73751895, 73751906-73751910, 73752793, 73753035, 73753091-73753116, 73753308 |
| 180 | GALK1 | 17 | 0.9626802374894 | 44 | 1179 | 73754166, 73754365-73754371, 73754434-73754453, 73754569, 73754586-73754591, 73761191-73761199 |
| 181 | UNC13D | 17 | 0.83104185762298 | 553 | 3273 | 73824052, 73824057, 73824060-73824069, 73824966-73824968, 73824973-73824975, 73824978-73824992, 73825037-73825064, 73826120-73826123, 73826160, 73826446-73826501, 73826532, 73826659-73826660, 73826673-73826688, 73826711-73826742, 73827216-73827250, 73827385, 73827388-73827390, 73827404-73827405, 73829047-73829059, 73829114, 73829118-73829120, 73830442, 73830458-73830460, 73830601, 73830748-73830765, 73831092, 73831490-73831515, 73831535-73831544, 73831728-73831740, 73831849-73831852, 73831970-73831987, 73832174, 73832289, 73832423-73832439, 73832489-73832510, 73832671-73832672, 73832687, 73832735-73832748, 73832763-73832777, 73832988-73832999, 73836122-73836125, 73838593-73838602, 73838667-73838689, 73839249-73839295, 73839334, 73839565-73839566, 73839586-73839600, 73840302-73840316, 73840380-73840399, 73840414-73840418 |
| 182 | SEPT9 | 17 | 0.85519591141397 | 255 | 1761 | 75478280-75478315, 75478326-75478368, 75483623-75483634, 75484853-75484859, 75484871, 75484899, 75484914-75484946, 75494619-75494740 |
| 183 | GAA | 17 | 0.97411682406436 | 74 | 2859 | 78078394, 78078398-78078401, 78078537, 78078540-78078543, 78078547, 78078708-78078731, 78079639, 78081468-78081469, 78081474-78081475, 78081480-78081489, 78083758-78083780, 78086429 |
| 184 | SGSH | 17 | 0.9946984758118 | 8 | 1509 | 78188861, 78194071-78194077 |
| 185 | ACTG1 | 17 | 0.99645390070922 | 4 | 1128 | 79477954, 79478929-79478931 |
| 186 | FSCN2 | 17 | 0.5158891142664 | 716 | 1479 | 79495558, 79495623, 79495697-79495699, 79495711-79495778, 79495798-79495842, 79495866-79495900, 79495917-79495927, 79495941-79495943, 79495954-79495960, 79495973-79496019, 79496082-79496112, 79496151-79496161, 79496183-79496192, 79496251-79496269, 79496308-79496316, 79496375, 79502078-79502088, 79502157, 79502197-79502201, 79502214-79502234, 79503172-79503224, 79503243-79503281, 79503654-79503694, 79503700, 79503720, 79503741-79503815, 79503901-79504023, 79504047-79504083, 79504092-79504096, 79504101 |
| 187 | LPIN2 | 18 | 0.99962839093274 | 1 | 2691 | 2951111 |
| 188 | AFG3L2 | 18 | 0.98245614035088 | 42 | 2394 | 12377037-12377078 |
| 189 | LAMA3 | 18 | 0.99880023995201 | 12 | 10002 | 21269660-21269662, 21269712-21269720 |
| 190 | DSG2 | 18 | 0.99970211498362 | 1 | 3357 | 29078234 |
| 191 | CCBE1 | 18 | 0.97788697788698 | 27 | 1221 | 57134085-57134111 |
| 192 | TNFRSF11A | 18 | 0.97784981091302 | 41 | 1851 | 59992597-59992637 |
| 193 | CTDP1 | 18 | 0.94490644490644 | 159 | 2886 | 77439950-77440067, 77440093-77440096, 77440131-77440138, 77440184-77440202, 77474740, 77474743-77474751 |
| 194 | ELANE | 19 | 0.49004975124378 | 410 | 804 | 852329-852360, 852390-852395, 852876-852934, 852952-852984, 853004-853032, 853262-853360, 853368-853403, 855564-855578, 855602-855606, 855616-855619, 855624-855627, 855631-855633, 855700, 855714-855723, 855738-855739, 855742-855750, 855958-855971, 856022-856028, 856096, 856124-856164 |
| 195 | KISS1R | 19 | 0.82539682539683 | 209 | 1197 | 917503-917527, 917572-917581, 917607-917627, 918544-918556, 918574-918592, 918623, 918653-918668, 919490-919494, 919964-919988, 920090-920096, 920291, 920299, 920310-920311, 920323-920357, 920368, 920376-920377, 920686-920710 |
| 196 | STK11 | 19 | 0.62903225806452 | 483 | 1302 | 1219358, 1220372-1220375, 1220388, 1220393-1220417, 1220438-1220462, 1220492-1220504, 1220583-1220594, 1220608-1220685, 1220707-1220716, 1221212-1221220, 1221226, 1221230, 1221236-1221246, 1221263-1221295, 1221303-1221314, 1221326-1221339, 1221948-1221967, 1221979-1222005, 1222994-1223005, 1223034-1223075, 1223140-1223171, 1226474, 1226479-1226484, 1226495-1226498, 1226501-1226502, 1226514-1226528, 1226536-1226542, 1226562-1226564, 1226576-1226586, 1226596-1226646 |
| 197 | NDUFS7 | 19 | 0.97663551401869 | 15 | 642 | 1387814, 1395435-1395448 |
| 198 | GAMT | 19 | 0.96543209876543 | 28 | 810 | 1398719-1398725, 1398730, 1399796-1399809, 1399812-1399817 |
| 199 | RAX2 | 19 | 0.91351351351351 | 48 | 555 | 3770752-3770758, 3771578-3771617, 3771721 |
| 200 | MAP2K2 | 19 | 0.82709891936825 | 208 | 1203 | 4090596-4090597, 4090633-4090661, 4090672-4090703, 4094491, 4095391-4095397, 4097278-4097287, 4097296, 4097325-4097341, 4099281, 4110533-4110548, 4123781-4123872 |
| 201 | C3 | 19 | 0.99098557692308 | 45 | 4992 | 6709801-6709833, 6713508, 6714004-6714014 |
| 202 | INSR | 19 | 0.99686671487105 | 13 | 4149 | 7152766-7152772, 7152935-7152936, 7293871-7293873, 7293877 |
| 203 | PNPLA6 | 19 | 0.99598393574297 | 16 | 3984 | 7615930, 7615938-7615944, 7615981-7615982, 7616283-7616284, 7616293-7616295, 7619522 |
| 204 | TYK2 | 19 | 0.94388327721661 | 200 | 3564 | 10463135-10463144, 10463669, 10463709-10463712, 10463747-10463748, 10464209-10464219, 10464224, 10464239-10464271, 10464758, 10464874, 10464878-10464889, 10465268-10465272, 10465283-10465285, 10467255, 10468499, 10468679-10468708, 10469915, 10469921-10469928, 10476443-10476446, 10488914-10488938, 10488986-10488989, 10488992-10489000, 10489004-10489009, 10489015-10489028, 10489033, 10489041-10489047, 10489051-10489055 |
| 205 | DNM2 | 19 | 0.99885189437428 | 3 | 2613 | 10923024-10923026 |
| 206 | LDLR | 19 | 0.99264421215641 | 19 | 2583 | 11218179, 11224081-11224085, 11224260-11224265, 11224306-11224312 |
| 207 | PRKCSH | 19 | 0.99558916194077 | 7 | 1587 | 11558341-11558346, 11558552 |
| 208 | MAN2B1 | 19 | 0.99802371541502 | 6 | 3036 | 12768305, 12768361-12768362, 12768892-12768893, 12769299 |
| 209 | CACNA1A | 19 | 0.97181225900811 | 212 | 7521 | 13318262, 13318292-13318316, 13318326-13318344, 13318484-13318508, 13318556-13318590, 13318628-13318640, 13318646-13318716, 13318795-13318797, 13319615-13319628, 13319692-13319696, 13409622 |
| 210 | NOTCH3 | 19 | 0.98578811369509 | 99 | 6966 | 15302356, 15302556, 15302871-15302872, 15302919-15302948, 15303039, 15303068-15303069, 15303077-15303080, 15311618-15311620, 15311623-15311674, 15311699, 15311707, 15311711 |
| 211 | JAK3 | 19 | 0.9917037037037 | 28 | 3375 | 17941022-17941026, 17950388-17950390, 17952251-17952252, 17953196-17953197, 17953213, 17953283-17953292, 17954626, 17955079, 17955091, 17955158, 17955162 |
| 212 | SLC5A5 | 19 | 0.97153209109731 | 55 | 1932 | 17983129-17983134, 17983250, 17983260-17983263, 17983269-17983279, 17983317-17983323, 17983369-17983371, 17983462-17983469, 17984981-17984982, 17984986-17984997, 17991697 |
| 213 | IL12RB1 | 19 | 0.99446958270488 | 11 | 1989 | 18191770, 18197586-18197595 |
| 214 | COMP | 19 | 0.9349164467898 | 148 | 2274 | 18893896-18893902, 18893987-18893988, 18896845-18896850, 18896856-18896858, 18896864, 18898353-18898356, 18899066, 18899070-18899074, 18899116, 18899451-18899461, 18899467, 18899470-18899476, 18899487-18899490, 18900007-18900045, 18900810-18900813, 18900822-18900828, 18900834, 18900847, 18900850-18900853, 18900865, 18900870-18900876, 18901398-18901404, 18901660-18901668, 18901689-18901698, 18902052-18902056 |
| 215 | CEBPA | 19 | 0.7288765088208 | 292 | 1077 | 33792398, 33792706-33792717, 33792755-33792757, 33792764-33792765, 33792769, 33792817-33792823, 33792852-33792868, 33792893, 33792896-33792901, 33792915-33792962, 33792975-33792989, 33793018, 33793022-33793047, 33793062-33793072, 33793144-33793170, 33793191-33793281, 33793287-33793309 |
| 216 | SCN1B | 19 | 0.97521685254027 | 20 | 807 | 35521725-35521744 |
| 217 | MAG | 19 | 0.95268474215843 | 89 | 1881 | 35790498-35790503, 35790545-35790589, 35790629-35790653, 35790718-35790719, 35790728, 35790741-35790750 |
| 218 | TYROBP | 19 | 0.90265486725664 | 33 | 339 | 36398378, 36399076-36399103, 36399106-36399109 |
| 219 | SDHAF1 | 19 | 0.99425287356322 | 2 | 348 | 36486185, 36486188 |
| 220 | RYR1 | 19 | 0.98405768340279 | 241 | 15117 | 38931422-38931428, 38931476-38931482, 39055616, 39055626, 39055638, 39055642-39055643, 39055731-39055748, 39055775-39055807, 39055824-39055863, 39055871, 39055876-39055949, 39055962, 39055989-39055996, 39056010-39056015, 39056022-39056052, 39056238-39056245, 39056317-39056318 |
| 221 | ACTN4 | 19 | 0.98428362573099 | 43 | 2736 | 39138486-39138524, 39216476-39216478, 39219985 |
| 222 | DLL3 | 19 | 0.99892299407647 | 2 | 1857 | 39994818, 39994911 |
| 223 | PRX | 19 | 0.9968080255358 | 14 | 4386 | 40900180-40900182, 40909614-40909624 |
| 224 | TGFB1 | 19 | 0.99062233589088 | 11 | 1173 | 41858927-41858937 |
| 225 | BCKDHA | 19 | 0.99925261584454 | 1 | 1338 | 41928534 |
| 226 | ATP1A3 | 19 | 0.99537792278412 | 17 | 3678 | 42470873-42470888, 42470945 |
| 227 | BCAM | 19 | 0.97297297297297 | 51 | 1887 | 45312382-45312392, 45312414-45312449, 45324044-45324047 |
| 228 | SIX5 | 19 | 0.99369369369369 | 14 | 2220 | 46268976-46268978, 46271845-46271854, 46272078 |
| 229 | DMPK | 19 | 0.9984126984127 | 3 | 1890 | 46285589-46285591 |
| 230 | FKRP | 19 | 0.9872311827957 | 19 | 1488 | 47259374-47259389, 47259677-47259679 |
| 231 | DBP | 19 | 0.92331288343558 | 75 | 978 | 49136869-49136872, 49138868, 49138937-49138952, 49139096-49139097, 49139104, 49139109-49139114, 49139123-49139125, 49139129-49139131, 49139136-49139167, 49139232, 49139236-49139241 |
| 232 | GYS1 | 19 | 0.98373983739837 | 36 | 2214 | 49494617-49494624, 49496252-49496257, 49496302-49496303, 49496316-49496335 |
| 233 | MYH14 | 19 | 0.99623629520537 | 23 | 6111 | 50764867-50764888, 50770219 |
| 234 | KCNC3 | 19 | 0.88610378188215 | 259 | 2274 | 50826340, 50826401-50826408, 50826452, 50826459, 50826464-50826467, 50831714-50831733, 50831895-50831896, 50831933, 50831942-50831943, 50831946-50831947, 50831954-50831955, 50831957-50831959, 50831965-50831972, 50831978-50831979, 50831997-50832005, 50832011-50832019, 50832110-50832148, 50832152-50832153, 50832185-50832327 |
| 235 | NLRP12 | 19 | 0.99968612680477 | 1 | 3186 | 54304619 |
| 236 | PRPF31 | 19 | 0.788 | 318 | 1500 | 54627133-54627160, 54627166, 54627937-54627942, 54627956-54627958, 54631448-54631454, 54631477-54631517, 54631526-54631563, 54631571-54631575, 54631691, 54631701-54631718, 54631743-54631752, 54632437, 54632441, 54632464, 54632470-54632482, 54632491-54632507, 54632512, 54632550-54632560, 54632647-54632666, 54632689-54632714, 54632724-54632732, 54632739-54632745, 54634769-54634775, 54634802-54634843, 54634860-54634863 |
| 237 | TNNT1 | 19 | 0.9467680608365 | 42 | 789 | 55644311-55644313, 55645290-55645295, 55652260-55652291, 55652302 |
| 238 | TPO | 2 | 0.96466809421842 | 99 | 2802 | 1520657-1520679, 1520685-1520736, 1544391, 1544409-1544411, 1546193-1546212 |
| 239 | KLF11 | 2 | 0.99220272904483 | 12 | 1539 | 10183844-10183847, 10183872-10183879 |
| 240 | MYCN | 2 | 0.97921146953405 | 29 | 1395 | 16082304-16082313, 16082544-16082549, 16082553-16082554, 16082590-16082593, 16082646-16082652 |
| 241 | OTOF | 2 | 0.96796796796797 | 192 | 5994 | 26690300, 26695513-26695517, 26696892, 26696932, 26697429-26697456, 26698996-26699012, 26699156, 26699773-26699776, 26699779-26699783, 26699794, 26699798, 26699810-26699827, 26699872-26699887, 26700058-26700093, 26700150-26700151, 26700284-26700291, 26700529, 26700538-26700545, 26700547, 26700550-26700552, 26700571-26700576, 26702132-26702139, 26705288-26705291, 26705351-26705353, 26705437-26705449 |
| 242 | MPV17 | 2 | 0.99623352165725 | 2 | 531 | 27535969-27535970 |
| 243 | SPAST | 2 | 0.99513776337115 | 9 | 1851 | 32289213-32289217, 32289302-32289305 |
| 244 | CYP1B1 | 2 | 0.99509803921569 | 8 | 1632 | 38302202-38302204, 38302438-38302442 |
| 245 | SOS1 | 2 | 0.99975012493753 | 1 | 4002 | 39285839 |
| 246 | ABCG8 | 2 | 0.97477744807122 | 51 | 2022 | 44099234-44099235, 44099268-44099273, 44100983-44100987, 44101602-44101611, 44102323, 44102331, 44102362, 44102370, 44102375-44102389, 44102476-44102484 |
| 247 | MSH6 | 2 | 0.99926524614254 | 3 | 4083 | 48010624-48010626 |
| 248 | SPR | 2 | 0.99491094147583 | 4 | 786 | 73114607, 73114787-73114788, 73114791 |
| 249 | ALMS1 | 2 | 0.9992802303263 | 9 | 12504 | 73676787, 73827996-73828002, 73828342 |
| 250 | MOGS | 2 | 0.98766905330151 | 31 | 2514 | 74689848, 74692266-74692293, 74692311, 74692314 |
| 251 | EIF2AK3 | 2 | 0.98985377499254 | 34 | 3351 | 88926726-88926758, 88926776 |
| 252 | TMEM127 | 2 | 0.99023709902371 | 7 | 717 | 96931084-96931089, 96931105 |
| 253 | RANBP2 | 2 | 0.93643410852713 | 615 | 9675 | 109345588-109345601, 109347230-109347274, 109347837-109347859, 109352023-109352039, 109352077-109352083, 109352142, 109352631-109352641, 109357110-109357126, 109365376, 109367720-109367727, 109367737-109367781, 109368104-109368111, 109368355, 109368423-109368450, 109371385-109371430, 109371656-109371685, 109371711-109371715, 109378618-109378638, 109378646-109378651, 109382700-109382706, 109382787-109382793, 109383072-109383113, 109383186-109383210, 109383268-109383301, 109383354-109383383, 109383644-109383678, 109383980-109384010, 109384561-109384603, 109384799-109384825 |
| 254 | NPHP1 | 2 | 0.99754178957719 | 5 | 2034 | 110886775-110886779 |
| 255 | GLI2 | 2 | 0.99663936147868 | 16 | 4761 | 121555017-121555020, 121729544, 121729630-121729639, 121746313 |
| 256 | CFC1 | 2 | 0.9360119047619 | 43 | 672 | 131280372-131280382, 131280385, 131280809-131280839 |
| 257 | LCT | 2 | 0.99982710926694 | 1 | 5784 | 136558245 |
| 258 | NEB | 2 | 0.99814759186943 | 37 | 19974 | 152432762-152432798 |
| 259 | SCN2A | 2 | 0.99983383183782 | 1 | 6018 | 166245230 |
| 260 | SCN1A | 2 | 0.99883274970819 | 7 | 5997 | 166848838-166848844 |
| 261 | TTN | 2 | 0.99997007421594 | 3 | 100248 | 179422752-179422753, 179454580 |
| 262 | CERKL | 2 | 0.98686679174484 | 21 | 1599 | 182468644-182468663, 182468791 |
| 263 | HSPD1 | 2 | 0.99941927990708 | 1 | 1722 | 198353137 |
| 264 | BMPR2 | 2 | 0.99807507218479 | 6 | 3117 | 203332344-203332348, 203378485 |
| 265 | DES | 2 | 0.99504600141543 | 7 | 1413 | 220283705-220283711 |
| 266 | OBSL1 | 2 | 0.99437708662801 | 32 | 5691 | 220435659-220435660, 220435690-220435692, 220435735-220435761 |
| 267 | AGXT | 2 | 0.9991518235793 | 1 | 1179 | 241808308 |
| 268 | D2HGDH | 2 | 0.93231162196679 | 106 | 1566 | 242674643, 242689590-242689601, 242690762-242690774, 242695406-242695414, 242707162-242707172, 242707284-242707332, 242707374-242707384 |
| 269 | AVP | 20 | 0.90909090909091 | 45 | 495 | 3063334-3063365, 3063411, 3063422-3063424, 3063665, 3063676-3063683 |
| 270 | PANK2 | 20 | 0.99883245767659 | 2 | 1713 | 3870100, 3870367 |
| 271 | JAG1 | 20 | 0.99808586272901 | 7 | 3657 | 10654157-10654163 |
| 272 | SNTA1 | 20 | 0.98484848484848 | 23 | 1518 | 32000391-32000397, 32031180, 32031327-32031332, 32031354-32031359, 32031363-32031365 |
| 273 | CTSA | 20 | 0.99799599198397 | 3 | 1497 | 44520238-44520240 |
| 274 | GNAS | 20 | 0.93631436314363 | 47 | 738 | 57415240-57415262, 57415337-57415346, 57415660-57415673 |
| 275 | GNAS | 20 | 0.95215157353886 | 149 | 3114 | 57428729, 57429060-57429088, 57429110-57429119, 57429273, 57429388-57429395, 57429490-57429502, 57429623-57429666, 57429688-57429699, 57429739-57429743, 57429755, 57429945-57429946, 57430043-57430052, 57430376-57430388 |
| 276 | COL9A3 | 20 | 0.938199513382 | 127 | 2055 | 61448417-61448435, 61448448, 61448459-61448468, 61448482, 61448925-61448954, 61453152-61453162, 61455845, 61456328-61456362, 61457170-61457185, 61457188, 61458145-61458146 |
| 277 | CHRNA4 | 20 | 0.30891719745223 | 1302 | 1884 | 61978090-61978116, 61978138-61978178, 61978200-61978215, 61981011-61981048, 61981057, 61981067-61981111, 61981134-61981181, 61981211-61981255, 61981262-61981304, 61981318-61981356, 61981376-61981521, 61981533-61981619, 61981651-61981723, 61981748, 61981755-61981786, 61981791, 61981800, 61981812-61981823, 61981826, 61981837-61981881, 61981895-61981899, 61981902, 61981932-61981967, 61981980, 61982041, 61982053-61982056, 61982069, 61982085, 61982094, 61982101-61982133, 61982154, 61982180-61982214, 61982246-61982254, 61982312, 61982317-61982319, 61982327-61982359, 61982369-61982379, 61987327-61987436, 61987723-61987767, 61990900-61991051, 61992442-61992517 |
| 278 | KCNQ2 | 20 | 0.64413898434517 | 932 | 2619 | 62037997-62038026, 62038040, 62038045, 62038054-62038058, 62038105, 62038202-62038235, 62038271-62038272, 62038277-62038278, 62038283-62038284, 62038381-62038419, 62038509, 62038512, 62038534-62038563, 62038570, 62038572-62038579, 62038592-62038594, 62038621-62038622, 62038633, 62038701-62038722, 62039776-62039778, 62046267-62046277, 62046287, 62046331, 62069986-62069995, 62070951-62070977, 62071036-62071061, 62073759-62073793, 62073806-62073815, 62073834, 62073866, 62076012-62076109, 62076116-62076187, 62076591-62076639, 62076645-62076698, 62076711-62076717, 62078100-62078136, 62078149-62078155, 62103521-62103816 |
| 279 | SOX18 | 20 | 0.24935064935065 | 867 | 1155 | 62679519-62679521, 62679535, 62679557-62679591, 62679624-62679671, 62679718-62679732, 62679771-62679777, 62679822-62679876, 62679900-62679905, 62679922-62679992, 62680002-62680005, 62680016-62680029, 62680041-62680215, 62680234-62680268, 62680274-62680313, 62680512-62680869 |
| 280 | IFNGR2 | 21 | 0.92406311637081 | 77 | 1014 | 34775850-34775922, 34793896-34793899 |
| 281 | RCAN1 | 21 | 0.96837944664032 | 24 | 759 | 35987084-35987086, 35987184-35987197, 35987200, 35987268, 35987298, 35987303-35987306 |
| 282 | CLDN14 | 21 | 0.98194444444444 | 13 | 720 | 37833292-37833304 |
| 283 | CBS | 21 | 0.9951690821256 | 8 | 1656 | 44478976-44478983 |
| 284 | AIRE | 21 | 0.62271062271062 | 618 | 1638 | 45705908-45705948, 45705968-45705997, 45706007-45706011, 45706444-45706461, 45706520-45706523, 45706597, 45706600, 45706870, 45706963-45706970, 45707468, 45707471-45707474, 45708228-45708284, 45708321-45708329, 45709572, 45709576, 45709638-45709644, 45709682-45709685, 45709877-45709928, 45710978-45710995, 45711040-45711042, 45711085-45711087, 45712209, 45712883-45712905, 45712951-45712957, 45712977, 45712989-45713058, 45713672-45713696, 45713703-45713713, 45713718-45713733, 45713766-45713793, 45714284-45714386, 45716266-45716328, 45717578 |
| 285 | COL18A1 | 21 | 0.6698955365622 | 1738 | 5265 | 46875704-46875708, 46876512-46876516, 46876611-46876620, 46876644-46876658, 46876681-46876711, 46888205-46888210, 46888215-46888218, 46888339-46888343, 46888451, 46896321-46896327, 46896390, 46906775-46906804, 46906830-46906896, 46908332-46908344, 46908355, 46909400-46909414, 46909423-46909435, 46910189-46910260, 46910750-46910785, 46911151-46911228, 46912449-46912452, 46912601-46912627, 46913077-46913096, 46913120-46913139, 46913415-46913426, 46913447, 46913450-46913489, 46914459-46914466, 46914472-46914485, 46914776-46914788, 46914795, 46914801, 46914804, 46915272-46915300, 46915322-46915346, 46916414-46916482, 46916964-46917006, 46917529-46917575, 46923925-46923968, 46924330-46924458, 46924467-46924470, 46925048-46925122, 46925132, 46925135, 46925138-46925192, 46925272-46925345, 46925752-46925764, 46925773-46925880, 46927475-46927507, 46929284-46929379, 46929416-46929461, 46929467, 46929482-46929515, 46929991-46930065, 46930075, 46930090-46930110, 46930131-46930175, 46931054-46931063, 46931072-46931093, 46931110, 46932137-46932143, 46932164-46932212, 46932219-46932221 |
| 286 | COL6A1 | 21 | 0.7457078069323 | 785 | 3087 | 47401765-47401861, 47402548-47402677, 47404183-47404289, 47404300-47404314, 47404337-47404383, 47406445-47406489, 47406529-47406535, 47406568-47406596, 47406867-47406884, 47406919-47406954, 47406962, 47406977-47406986, 47407413-47407433, 47407524-47407568, 47408998, 47409006-47409033, 47409045-47409047, 47409522-47409529, 47409561-47409566, 47409668-47409692, 47410172-47410198, 47410292-47410323, 47410332-47410336, 47410739-47410740, 47414136-47414140, 47417634, 47417654-47417655, 47417662, 47418042, 47418050, 47418821-47418834, 47419122-47419132, 47419577-47419580 |
| 287 | COL6A2 | 21 | 0.6297385620915 | 1133 | 3060 | 47531449-47531450, 47531469, 47531480, 47531486-47531499, 47531921-47531923, 47531977-47531991, 47532047, 47532069, 47532246-47532272, 47532316, 47532326-47532328, 47532433-47532439, 47532718-47532725, 47535837-47535839, 47535945-47535960, 47536688-47536709, 47537314, 47537346-47537357, 47537824-47537838, 47538528-47538540, 47538572-47538590, 47538944-47538953, 47538960-47538961, 47538992-47539026, 47539708, 47539712-47539735, 47539755-47539764, 47540429-47540459, 47540474-47540475, 47540479-47540480, 47540485, 47540975-47541030, 47541484-47541509, 47541512, 47542022-47542030, 47542050-47542052, 47542061-47542072, 47542410-47542413, 47542444-47542445, 47542789-47542851, 47544594, 47544810-47544819, 47545379, 47545382-47545383, 47545387, 47545524-47545531, 47545699-47545718, 47545754-47545783, 47545793-47545829, 47545934-47545959, 47546003-47546011, 47546024-47546055, 47546062-47546065, 47546077-47546082, 47546102-47546145, 47546417-47546452, 47551868-47551918, 47551944-47551983, 47552006-47552029, 47552062-47552100, 47552126-47552150, 47552161, 47552165-47552192, 47552204-47552208, 47552216-47552224, 47552231-47552232, 47552263-47552336, 47552350-47552419, 47552431-47552445, 47552463-47552466 |
| 288 | COL6A2 | 21 | 0.27777777777778 | 247 | 342 | 47552183-47552192, 47552204-47552208, 47552216-47552224, 47552231-47552232, 47552263-47552336, 47552350-47552419, 47552431-47552445, 47552463-47552524 |
| 289 | FTCD | 21 | 0.035670356703567 | 1568 | 1626 | 47556901-47556935, 47556950-47556987, 47557153-47557181, 47557202-47557235, 47558422-47558560, 47558794-47558824, 47558836-47558837, 47565331-47565492, 47565732-47565861, 47566180-47566241, 47570033-47570164, 47570302-47570439, 47571472-47571651, 47571806-47571894, 47572821-47572949, 47574063-47574246, 47575384-47575437 |
| 290 | PCNT | 21 | 0.9991009889122 | 9 | 10011 | 47822359, 47831447-47831449, 47836722-47836726 |
| 291 | PRODH | 22 | 0.92013311148087 | 144 | 1803 | 18901012, 18904411-18904417, 18908899-18908905, 18923528-18923570, 18923577-18923624, 18923671, 18923690-18923705, 18923755-18923758, 18923777, 18923785-18923800 |
| 292 | GP1BB | 22 | 0.12238325281804 | 545 | 621 | 19711093-19711094, 19711377-19711435, 19711450-19711493, 19711528-19711633, 19711642-19711972, 19711985-19711987 |
| 293 | TBX1 | 22 | 0.69018817204301 | 461 | 1488 | 19747170-19747179, 19748428-19748599, 19748608-19748637, 19748641-19748674, 19748703-19748705, 19753425-19753473, 19753496, 19753499-19753507, 19753921, 19753932-19753936, 19753955-19754010, 19754024-19754057, 19754066-19754077, 19754281-19754318, 19754345-19754351 |
| 294 | CHEK2 | 22 | 0.96365701306076 | 64 | 1761 | 29083906-29083916, 29083927-29083965, 29085158-29085171 |
| 295 | NF2 | 22 | 0.99496644295302 | 9 | 1788 | 30000093-30000101 |
| 296 | TCN2 | 22 | 0.99766355140187 | 3 | 1284 | 31003319-31003321 |
| 297 | MYH9 | 22 | 0.99966003739589 | 2 | 5883 | 36701079-36701080 |
| 298 | TRIOBP | 22 | 0.98393913778529 | 114 | 7098 | 38119879-38119905, 38120030-38120068, 38120176-38120178, 38120563, 38130535-38130541, 38130600-38130602, 38130667-38130688, 38130902, 38131002-38131008, 38153935-38153938 |
| 299 | PLA2G6 | 22 | 0.67484662576687 | 159 | 489 | 38508297-38508312, 38508511-38508549, 38508558-38508584, 38509561-38509574, 38509599-38509600, 38509607, 38509717, 38509752-38509808, 38509858-38509859 |
| 300 | PLA2G6 | 22 | 0.90169351507641 | 238 | 2421 | 38508186, 38508243-38508272, 38508297-38508312, 38508511-38508549, 38508558-38508584, 38509561-38509574, 38509599-38509600, 38509607, 38511534-38511546, 38511606-38511616, 38511628, 38511645-38511647, 38511658-38511659, 38512082-38512088, 38512139-38512182, 38512193-38512218, 38516776 |
| 301 | TNFRSF13C | 22 | 0.45945945945946 | 300 | 555 | 42321410, 42321478, 42321483, 42322115-42322118, 42322124-42322126, 42322130, 42322135, 42322143-42322152, 42322165-42322335, 42322642-42322668, 42322676-42322755 |
| 302 | CYB5R3 | 22 | 0.97682119205298 | 21 | 906 | 43045301-43045321 |
| 303 | TRMU | 22 | 0.97946287519747 | 26 | 1266 | 46731722-46731726, 46751942-46751962 |
| 304 | ALG12 | 22 | 0.98841172460804 | 17 | 1467 | 50307368-50307384 |
| 305 | MLC1 | 22 | 0.97266313932981 | 31 | 1134 | 50502467-50502494, 50502593-50502595 |
| 306 | SCO2 | 22 | 0.99875156054931 | 1 | 801 | 50962535 |
| 307 | TYMP | 22 | 0.89648033126294 | 150 | 1449 | 50964230, 50964288-50964312, 50964462-50964468, 50964477-50964564, 50964711-50964718, 50964795-50964799, 50964893-50964899, 50965126-50965131, 50967663-50967665 |
| 308 | ARSA | 22 | 0.99868766404199 | 2 | 1524 | 51064476-51064477 |
| 309 | SHANK3 | 22 | 0.68668954996186 | 1643 | 5244 | 51113070-51113132, 51113476-51113679, 51115050-51115058, 51115069-51115071, 51115081-51115121, 51117013-51117121, 51117200-51117348, 51117447-51117614, 51117740-51117856, 51121768-51121845, 51123013-51123079, 51133214, 51133230-51133262, 51133276-51133301, 51133323-51133325, 51133333-51133338, 51133353-51133372, 51133433-51133469, 51135671-51135696, 51135704-51135719, 51135951-51136143, 51137118-51137122, 51137145-51137148, 51137172, 51137175-51137179, 51137182-51137221, 51143226-51143227, 51143265-51143267, 51158764-51158775, 51158813, 51158833-51158883, 51158906-51158908, 51158917-51158928, 51158932, 51158958-51158961, 51158965, 51158979, 51159064-51159085, 51159223-51159264, 51159326-51159328, 51159370-51159373, 51159376, 51159433-51159462, 51169216-51169221, 51169441-51169442, 51169517-51169531, 51169686, 51169689, 51169703 |
| 310 | FANCD2 | 3 | 0.99773550724638 | 10 | 4416 | 10088266, 10088340-10088346, 10140469-10140470 |
| 311 | VHL | 3 | 0.99376947040498 | 4 | 642 | 10183716-10183719 |
| 312 | TMIE | 3 | 0.98692810457516 | 6 | 459 | 46742982, 46742985-46742987, 46742990, 46743015 |
| 313 | TMIE | 3 | 0.98089171974522 | 9 | 471 | 46742982, 46742985-46742987, 46742990, 46743015, 46751074-46751076 |
| 314 | TREX1 | 3 | 0.99369369369369 | 7 | 1110 | 48508689-48508690, 48508695, 48508698-48508701 |
| 315 | LAMB2 | 3 | 0.9970353900315 | 16 | 5397 | 49159120-49159121, 49159465, 49159638, 49160272-49160278, 49160575, 49162459, 49162583, 49162883, 49167839 |
| 316 | TKT | 3 | 0.99946581196581 | 1 | 1872 | 53265415 |
| 317 | FLNB | 3 | 0.99820719682418 | 14 | 7809 | 58156436-58156449 |
| 318 | ATXN7 | 3 | 0.92741367159972 | 206 | 2838 | 63898312-63898330, 63898357-63898402, 63898417-63898518, 63898541-63898579 |
| 319 | ARL13B | 3 | 0.99456099456099 | 7 | 1287 | 93761918-93761919, 93762037-93762041 |
| 320 | CPOX | 3 | 0.97069597069597 | 40 | 1365 | 98312214-98312253 |
| 321 | CASR | 3 | 0.99907321594069 | 3 | 3237 | 122003669-122003671 |
| 322 | RHO | 3 | 0.99808978032474 | 2 | 1047 | 129251459-129251460 |
| 323 | NPHP3 | 3 | 0.99449035812672 | 22 | 3993 | 132435681, 132441003, 132441071-132441077, 132441157-132441169 |
| 324 | FOXL2 | 3 | 0.97612732095491 | 27 | 1131 | 138664836-138664841, 138664870-138664890 |
| 325 | ALG3 | 3 | 0.99848139711465 | 2 | 1317 | 183966647, 183966670 |
| 326 | CLCN2 | 3 | 0.99740452354468 | 7 | 2697 | 184072063-184072069 |
| 327 | CPN2 | 3 | 0.998778998779 | 2 | 1638 | 194062014, 194062017 |
| 328 | PDE6B | 4 | 0.97543859649123 | 63 | 2565 | 619868, 647885-647887, 647892-647895, 647903, 649729-649731, 649749-649759, 650771, 650777-650778, 651246, 652741-652742, 652776-652792, 655950, 656889-656900, 656908, 656919, 657620, 657659 |
| 329 | IDUA | 4 | 0.40163098878695 | 1174 | 1962 | 980873-980881, 980896, 980903-980905, 980908-980955, 980957-980973, 980979, 980983-981021, 981611, 981624-981660, 981669, 981676, 981683-981694, 981699-981701, 981717, 981731-981732, 981737, 994414, 994422-994426, 994475-994477, 994718-994761, 994767, 994773-994777, 995280-995281, 995467-995489, 995498-995504, 995510-995564, 995574-995600, 995602-995616, 995644, 995649-995650, 995656-995663, 995776-995797, 995819-995825, 995830-995847, 995890-995924, 995943-995949, 996057-996081, 996093-996124, 996151, 996155, 996165, 996172, 996193-996273, 996520-996732, 996824-996945, 997133-997206, 997212-997258, 997346-997411, 997810-997817, 997858, 997899-997900, 998048-998051, 998098-998116, 998128, 998169-998178 |
| 330 | FGFR3 | 4 | 0.92336217552534 | 186 | 2427 | 1795662-1795714, 1795727, 1795736-1795742, 1795760-1795770, 1800991-1801010, 1801072, 1801142, 1801150, 1801178-1801186, 1801194-1801196, 1801211, 1801474-1801487, 1803347-1803376, 1803744-1803752, 1806610, 1806654-1806657, 1807392, 1807893-1807896, 1808951-1808954, 1808958, 1808961-1808970 |
| 331 | SH3BP2 | 4 | 0.99946149703823 | 1 | 1857 | 2820036 |
| 332 | HTT | 4 | 0.99607593594231 | 37 | 9429 | 3076604-3076606, 3076651, 3076654, 3076672-3076684, 3076738, 3076775-3076777, 3076786-3076794, 3240667, 3241782-3241786 |
| 333 | DOK7 | 4 | 0.7960396039604 | 309 | 1515 | 3465122-3465156, 3465233-3465243, 3465252-3465278, 3475164-3475167, 3478075-3478077, 3478081, 3478170, 3478173-3478176, 3478179-3478197, 3478229, 3494532-3494536, 3494572-3494591, 3494600, 3494617-3494632, 3494646-3494659, 3494716-3494739, 3494805-3494808, 3494833-3494837, 3494882-3494901, 3494954-3494962, 3495040-3495060, 3495072, 3495083-3495095, 3495105-3495109, 3495130-3495174 |
| 334 | DOK7 | 4 | 0.76311336717428 | 140 | 591 | 3494532-3494536, 3494572-3494591, 3494600, 3494617-3494632, 3494646-3494659, 3494716-3494739, 3494805-3494808, 3494833-3494837, 3494882-3494901, 3494954-3494962, 3495040-3495060, 3495072 |
| 335 | EVC | 4 | 0.99496475327291 | 15 | 2979 | 5713115-5713128, 5713193 |
| 336 | QDPR | 4 | 0.99047619047619 | 7 | 735 | 17493882-17493888 |
| 337 | COQ2 | 4 | 0.99480519480519 | 6 | 1155 | 84205908-84205913 |
| 338 | PKD2 | 4 | 0.99862401100791 | 4 | 2907 | 88928909-88928912 |
| 339 | CISD2 | 4 | 0.91666666666667 | 34 | 408 | 103808512-103808522, 103808565-103808587 |
| 340 | FGA | 4 | 0.9996155324875 | 1 | 2601 | 155507590 |
| 341 | CTSO | 4 | 0.99275362318841 | 7 | 966 | 156874981, 156874984-156874989 |
| 342 | ETFDH | 4 | 0.99946062567422 | 1 | 1854 | 159601713 |
| 343 | GK | 4 | 0.99939831528279 | 1 | 1662 | 166199763 |
| 344 | SDHA | 5 | 0.99949874686717 | 1 | 1995 | 251565 |
| 345 | SLC6A19 | 5 | 0.67086614173228 | 627 | 1905 | 1201766-1201786, 1201806-1201874, 1201888-1201967, 1208903-1208946, 1208964, 1208987-1208989, 1208994-1208998, 1210559-1210573, 1210597-1210602, 1210636-1210652, 1210682-1210696, 1212463-1212490, 1212499-1212520, 1213578-1213648, 1213668, 1213673-1213688, 1214078-1214079, 1214090-1214093, 1214100, 1214146, 1214156-1214157, 1214180, 1216706-1216712, 1216927-1216929, 1216966-1216970, 1217016-1217036, 1217043-1217060, 1219025-1219026, 1219031, 1219059-1219066, 1219213-1219222, 1219620-1219623, 1219633-1219755 |
| 346 | TERT | 5 | 0.57664018829067 | 1439 | 3399 | 1253925-1253926, 1254518, 1258713-1258732, 1264533-1264539, 1264557-1264563, 1264605, 1264687, 1266624-1266626, 1268645-1268705, 1271234-1271267, 1271285-1271287, 1271291-1271300, 1271312, 1271315, 1272300-1272395, 1278781, 1278784, 1278800-1278862, 1278892-1278893, 1279406-1279410, 1279431-1279482, 1279492-1279585, 1280282-1280293, 1280319-1280394, 1280408-1280427, 1280434-1280435, 1293441-1293444, 1293467-1293483, 1293583-1293606, 1293658-1293719, 1293738-1293747, 1293782-1293794, 1293801-1293808, 1293848, 1293911-1293923, 1293957-1293976, 1293996-1294026, 1294038, 1294060-1294063, 1294086, 1294104-1294130, 1294184-1294332, 1294342-1294368, 1294374-1294375, 1294460-1294486, 1294530, 1294552-1294630, 1294640-1294662, 1294674-1294756, 1294765-1294781, 1294886-1295104 |
| 347 | SLC6A3 | 5 | 0.8389694041868 | 300 | 1863 | 1406325-1406335, 1409141-1409173, 1409199-1409209, 1409235-1409236, 1409841-1409845, 1409906-1409957, 1411368, 1411375-1411398, 1411457-1411460, 1414806-1414834, 1414852-1414900, 1420684-1420693, 1420696, 1420727-1420745, 1420778-1420782, 1420802-1420818, 1422017, 1422023-1422043, 1422059-1422062, 1422069 |
| 348 | NDUFS6 | 5 | 0.952 | 18 | 375 | 1801563-1801580 |
| 349 | DNAH5 | 5 | 0.99935135135135 | 9 | 13875 | 13901655-13901663 |
| 350 | FAM134B | 5 | 0.99933065595716 | 1 | 1494 | 16616902 |
| 351 | SMN2 | 5 | 0.9819209039548 | 16 | 885 | 69362946-69362961 |
| 352 | SMN2 | 5 | 0.9819209039548 | 16 | 885 | 70238370-70238385 |
| 353 | RASA1 | 5 | 0.99936386768448 | 2 | 3144 | 86669980-86669981 |
| 354 | APC | 5 | 0.99988279418659 | 1 | 8532 | 112111326 |
| 355 | LMNB1 | 5 | 0.96649630891539 | 59 | 1761 | 126113276-126113283, 126113292-126113295, 126113371-126113388, 126113457-126113480, 126113555-126113559 |
| 356 | MSX2 | 5 | 0.9589552238806 | 33 | 804 | 174151820, 174151827-174151828, 174151868-174151897 |
| 357 | F12 | 5 | 0.995670995671 | 8 | 1848 | 176830950-176830957 |
| 358 | GRM6 | 5 | 0.9916476841306 | 22 | 2634 | 178408664-178408666, 178408672-178408674, 178421683-178421698 |
| 359 | FLT4 | 5 | 0.42839687194526 | 2339 | 4092 | 180038378-180038384, 180043367-180043400, 180043436-180043460, 180043935, 180043949-180043954, 180043984-180043994, 180045770-180045920, 180046021-180046109, 180046253-180046301, 180046335-180046366, 180046665-180046695, 180046703-180046769, 180047173-180047181, 180047190-180047193, 180047215-180047308, 180047630-180047632, 180047640-180047646, 180047680-180047696, 180047710, 180047891-180047917, 180047953, 180047962-180048007, 180048106-180048133, 180048146-180048156, 180048162-180048164, 180048188-180048197, 180048218-180048252, 180048542-180048568, 180048579-180048582, 180048595-180048650, 180048671-180048688, 180048698, 180048705, 180048730-180048743, 180048765-180048766, 180048771-180048781, 180048794-180048850, 180048898-180048904, 180049800-180049839, 180050935-180050966, 180050977-180051061, 180052869-180052957, 180052973-180053031, 180053111-180053147, 180053168, 180053180-180053201, 180053251-180053265, 180055888-180055999, 180056259-180056427, 180056696-180056746, 180056765-180056835, 180056943-180057065, 180057088-180057105, 180057225-180057267, 180057272, 180057289-180057333, 180057555-180057639, 180057657-180057695, 180057716-180057767, 180057778-180057799, 180058682-180058778, 180076488-180076501, 180076516, 180076527-180076545 |
| 360 | FOXC1 | 6 | 0.83212996389892 | 279 | 1662 | 1610702, 1610715, 1610748-1610768, 1610775, 1610785, 1610788-1610800, 1610858, 1610864, 1610875-1610876, 1610884-1610891, 1610946, 1611279-1611282, 1611298-1611313, 1611415-1611435, 1611459-1611527, 1611586, 1611610-1611619, 1611641-1611648, 1611682-1611713, 1611797-1611831, 1612018-1612020, 1612053, 1612138-1612165 |
| 361 | TUBB2B | 6 | 0.95440956651719 | 61 | 1338 | 3225011, 3225054, 3225278, 3225284, 3225534-3225575, 3225711-3225724, 3227742 |
| 362 | ATXN1 | 6 | 0.99550653594771 | 11 | 2448 | 16327858-16327859, 16327865-16327867, 16327909, 16327915-16327918, 16327921 |
| 363 | HLA-H | 6 | 0.99733333333333 | 2 | 750 | 29856427, 29856693 |
| 364 | TNXB | 6 | 0.94297563504406 | 110 | 1929 | 31976458-31976464, 31976896-31976929, 31977164-31977170, 31977388-31977394, 31977528, 31977548, 31977552, 31977786-31977792, 31977995-31978001, 31978498-31978534, 31979461 |
| 365 | CYP21A2 | 6 | 0.96841397849462 | 47 | 1488 | 32006211-32006248, 32006317, 32006337, 32007404-32007410 |
| 366 | TNXB | 6 | 0.99340089559274 | 84 | 12729 | 32009648-32009664, 32009899-32009905, 32010123-32010129, 32010279-32010289, 32010520-32010526, 32010728-32010735, 32011235, 32011248, 32012274, 32012314-32012315, 32012977, 32013010-32013029, 32026091 |
| 367 | HLA-DQA1 | 6 | 0.91666666666667 | 64 | 768 | 32609126, 32609144-32609150, 32610433-32610464, 32610475-32610498 |
| 368 | HLA-DQB1 | 6 | 0.84096692111959 | 125 | 786 | 32629920, 32629935, 32629955, 32632598, 32632608, 32632618, 32632702, 32632705, 32632714, 32632721, 32632742-32632752, 32632770, 32632777-32632783, 32632795, 32634279-32634358, 32634370-32634384 |
| 369 | SYNGAP1 | 6 | 0.98115079365079 | 76 | 4032 | 33388042-33388108, 33393630-33393635, 33411548, 33411707-33411708 |
| 370 | TULP1 | 6 | 0.99570288520565 | 7 | 1629 | 35479975-35479981 |
| 371 | MOCS1 | 6 | 0.82417582417582 | 336 | 1911 | 39893422-39893562, 39893584-39893589, 39895068-39895102, 39895123-39895149, 39895160, 39895170-39895264, 39895287-39895317 |
| 372 | RUNX2 | 6 | 0.96934865900383 | 48 | 1566 | 45390463-45390510 |
| 373 | MUT | 6 | 0.99866844207723 | 3 | 2253 | 49409560, 49409573, 49409576 |
| 374 | EYS | 6 | 0.99978802331744 | 2 | 9435 | 65016974-65016975 |
| 375 | RIMS1 | 6 | 0.99940933254578 | 3 | 5079 | 73001686-73001688 |
| 376 | SLC17A5 | 6 | 0.99529569892473 | 7 | 1488 | 74345132-74345138 |
| 377 | LAMA2 | 6 | 0.99989319662501 | 1 | 9363 | 129704318 |
| 378 | ENPP1 | 6 | 0.99136069114471 | 24 | 2778 | 132129176-132129194, 132129211, 132129273-132129275, 132129357 |
| 379 | SYNE1 | 6 | 0.99969690081079 | 8 | 26394 | 152623044-152623051 |
| 380 | TBP | 6 | 0.90196078431373 | 100 | 1020 | 170871010-170871109 |
| 381 | LFNG | 7 | 0.61052631578947 | 444 | 1140 | 2559496-2559924, 2564340-2564341, 2564904, 2564912, 2564935-2564936, 2565107, 2565110, 2565134-2565135, 2565194, 2565366-2565367, 2566015, 2566487 |
| 382 | PMS2 | 7 | 0.99382000772499 | 16 | 2589 | 6013150-6013156, 6026737-6026743, 6026865, 6045618 |
| 383 | TWIST1 | 7 | 0.90968801313629 | 55 | 609 | 19156623-19156626, 19156677-19156688, 19156811-19156833, 19156853-19156861, 19156901-19156907 |
| 384 | HOXA13 | 7 | 0.79605826906598 | 238 | 1167 | 27239192, 27239219-27239235, 27239269-27239283, 27239310, 27239316-27239394, 27239407-27239472, 27239498-27239518, 27239559-27239583, 27239601-27239613 |
| 385 | PGAM2 | 7 | 0.99868766404199 | 1 | 762 | 44104970 |
| 386 | GCK | 7 | 0.99785867237687 | 3 | 1401 | 44191876-44191877, 44191887 |
| 387 | CCM2 | 7 | 0.91910112359551 | 108 | 1335 | 45039956-45039962, 45113096, 45113099-45113100, 45113125-45113157, 45113168, 45113170, 45113897-45113928, 45113959, 45113968-45113994, 45115586-45115588 |
| 388 | EGFR | 7 | 0.99642169006331 | 13 | 3633 | 55086986, 55087002-55087013 |
| 389 | ASL | 7 | 0.81433691756272 | 259 | 1395 | 65547400, 65547423, 65548064-65548086, 65551731-65551755, 65551790-65551796, 65552737-65552763, 65552767-65552775, 65553807, 65553819-65553836, 65553839-65553847, 65554078-65554082, 65554102-65554148, 65554161-65554162, 65554270-65554273, 65554281, 65554315-65554321, 65554599-65554613, 65554648-65554682, 65556995, 65557544-65557558, 65557633-65557636, 65557649-65557650 |
| 390 | KCTD7 | 7 | 0.97126436781609 | 25 | 870 | 66094109-66094115, 66094147, 66094160, 66094165, 66094181-66094195 |
| 391 | NCF1 | 7 | 0.94181818181818 | 48 | 825 | 72639957-72639989, 72640033-72640039, 72643704-72643710, 72648745 |
| 392 | ELN | 7 | 0.97057471264368 | 64 | 2175 | 73442518-73442521, 73442528-73442530, 73442553-73442580, 73466254-73466282 |
| 393 | NCF1 | 7 | 0.98891730605286 | 13 | 1173 | 74193665-74193672, 74199610, 74202376, 74202387, 74202425, 74203005 |
| 394 | POR | 7 | 0.47479197258933 | 1073 | 2043 | 75609736-75609739, 75609752-75609756, 75609759-75609775, 75609801-75609804, 75610369-75610376, 75610448-75610449, 75610452, 75610456-75610457, 75610476-75610483, 75610838-75610842, 75610910, 75610918, 75611571-75611580, 75611603-75611639, 75612838-75612850, 75612863-75612919, 75613056-75613058, 75613082-75613124, 75613137-75613144, 75613156, 75613161-75613174, 75614095-75614109, 75614133-75614276, 75614376-75614525, 75614897-75614921, 75614927-75615033, 75615077-75615167, 75615241-75615298, 75615306-75615355, 75615383-75615386, 75615477-75615507, 75615520-75615559, 75615655-75615768 |
| 395 | HSPB1 | 7 | 0.97572815533981 | 15 | 618 | 75932064-75932078 |
| 396 | AKAP9 | 7 | 0.99982940975776 | 2 | 11724 | 91690701-91690702 |
| 397 | CFTR | 7 | 0.99009678145397 | 44 | 4443 | 117188733-117188766, 117188794-117188800, 117188841-117188843 |
| 398 | FLNC | 7 | 0.99865492785522 | 11 | 8178 | 128470719, 128471014-128471015, 128477279, 128498187-128498193 |
| 399 | BRAF | 7 | 0.99652325076054 | 8 | 2301 | 140624404-140624411 |
| 400 | PRSS1 | 7 | 0.93548387096774 | 48 | 744 | 142458508-142458529, 142459625-142459629, 142459664-142459682, 142460313, 142460335 |
| 401 | CNTNAP2 | 7 | 0.99974974974975 | 1 | 3996 | 145814004 |
| 402 | KCNH2 | 7 | 0.97155172413793 | 99 | 3480 | 150655150, 150655162-150655165, 150655211-150655215, 150671864-150671887, 150674926-150674931, 150674934-150674946, 150674956-150675001 |
| 403 | SHH | 7 | 0.66450683945284 | 466 | 1389 | 155595596-155595603, 155595614-155595616, 155595622-155595643, 155595657, 155595699-155595725, 155595731-155595823, 155595829-155595865, 155595882-155595886, 155595892-155595894, 155595912, 155595915-155595917, 155595921-155595923, 155595928-155595934, 155595938-155595946, 155595962-155595987, 155596027-155596064, 155596104-155596115, 155596128-155596159, 155596184-155596220, 155596249, 155596300, 155596344-155596384, 155599064, 155599068, 155599086, 155599117-155599146, 155599216-155599238 |
| 404 | MNX1 | 7 | 0.69568822553897 | 367 | 1206 | 156798325-156798353, 156798425-156798463, 156802477-156802479, 156802533-156802537, 156802568, 156802596-156802599, 156802632, 156802637-156802800, 156802810-156802818, 156802833-156802834, 156802844-156802860, 156802872-156802896, 156802928-156802972, 156803018-156803040 |
| 405 | CLN8 | 8 | 0.98373983739837 | 14 | 861 | 1719513-1719522, 1728725-1728727, 1728732 |
| 406 | ANK1 | 8 | 0.99964875307341 | 2 | 5694 | 41559630-41559631 |
| 407 | THAP1 | 8 | 0.99844236760125 | 1 | 642 | 42693246 |
| 408 | HGSNAT | 8 | 0.93815513626834 | 118 | 1908 | 42995640-42995757 |
| 409 | SLURP1 | 8 | 0.1025641025641 | 280 | 312 | 143822561-143822601, 143822619-143822694, 143823221-143823236, 143823246-143823292, 143823299-143823340, 143823746-143823803 |
| 410 | CYP11B1 | 8 | 0.98412698412698 | 24 | 1512 | 143956378-143956380, 143958513-143958533 |
| 411 | CYP11B2 | 8 | 0.99669312169312 | 5 | 1512 | 143993951-143993953, 143996539, 143996553 |
| 412 | PLEC | 8 | 0.70900035574529 | 4090 | 14055 | 144990387, 144990552, 144990730, 144990734, 144992385-144992392, 144992708-144992716, 144992722, 144992794-144992795, 144992817-144992819, 144992959, 144993060-144993061, 144993556, 144993559-144993561, 144993568, 144993612, 144993635, 144993845-144993854, 144994090, 144994327, 144994339, 144994362-144994404, 144994837, 144995386, 144995489, 144995689, 144995816-144995855, 144995896-144995905, 144995943-144995947, 144996230-144996287, 144996356, 144996371-144996411, 144996535-144996563, 144996672-144996689, 144996755-144996769, 144996835, 144997003, 144997057-144997112, 144997136, 144997387-144997397, 144997411-144997412, 144997424-144997463, 144997466, 144997599-144997620, 144997722, 144997736-144997740, 144997786, 144997832-144997868, 144997891-144997925, 144997968-144997978, 144997998, 144998006-144998014, 144998018-144998031, 144998072-144998076, 144998098-144998101, 144998104-144998117, 144998146, 144998149-144998153, 144998159-144998161, 144998180-144998183, 144998186-144998187, 144998214-144998234, 144998240-144998242, 144998244, 144998263, 144998269, 144998398-144998399, 144998452-144998540, 144998546-144998585, 144998614-144998654, 144998661-144998731, 144998752-144998809, 144998853-144998869, 144998875-144999004, 144999017-144999027, 144999051-144999097, 144999108-144999135, 144999138-144999143, 144999160, 144999168-144999186, 144999190-144999192, 144999199-144999224, 144999241, 144999244-144999258, 144999265-144999291, 144999295-144999356, 144999379-144999394, 144999400-144999429, 144999438-144999553, 144999563-144999583, 144999657-144999714, 144999728-144999802, 144999811-144999812, 144999825-144999827, 144999829, 144999844-144999846, 144999850-144999861, 144999868, 144999871, 144999880-144999987, 145000022-145000025, 145000042, 145000051-145000052, 145000952-145000976, 145001041-145001048, 145001156-145001169, 145001181-145001215, 145001228-145001249, 145001420, 145001474-145001503, 145001585-145001632, 145001641-145001645, 145001659-145001663, 145001715-145001718, 145001730-145001733, 145001737-145001741, 145001752-145001771, 145001789-145001819, 145001841, 145001844, 145001858-145001911, 145002031-145002077, 145002087-145002110, 145002120, 145002123-145002130, 145003285-145003289, 145003312-145003349, 145003370-145003407, 145003413-145003417, 145003421, 145003424, 145003582-145003593, 145003625-145003638, 145003644-145003699, 145003823-145003851, 145003856-145003867, 145003892-145003926, 145003957-145003962, 145004104-145004109, 145004144-145004202, 145004204, 145004318-145004341, 145004353, 145004369-145004402, 145004435-145004438, 145004567-145004568, 145004572-145004613, 145004635-145004661, 145004687-145004693, 145005702-145005756, 145005786-145005790, 145005793, 145005802, 145005809-145005814, 145005817-145005827, 145006105-145006122, 145006128-145006200, 145006298-145006397, 145006568-145006645, 145006680, 145006699-145006701, 145006714-145006716, 145006803-145006815, 145006827-145006876, 145006971-145007071, 145007104-145007132, 145007137, 145007162-145007201, 145007227-145007255, 145007269-145007279, 145007372-145007419, 145007449-145007455, 145007496-145007519, 145008177-145008184, 145008197-145008198, 145008201-145008203, 145008218, 145008229-145008259, 145008514-145008521, 145008547-145008577, 145008601-145008605, 145008803-145008809, 145008833-145008840, 145008978-145009019, 145009027-145009033, 145009040-145009097, 145009179-145009204, 145009225-145009229, 145009239-145009243, 145009256-145009272, 145009366-145009455, 145009474-145009481, 145010016-145010182, 145011149-145011178, 145011214-145011239, 145011333-145011362, 145012334-145012348, 145012364-145012385, 145012799-145012800, 145024356-145024360, 145024367, 145024463-145024474, 145024505-145024528, 145024547-145024551, 145024563-145024566, 145024597-145024622, 145024649-145024655, 145024697-145024703, 145024715, 145024719, 145024730-145024734, 145024749, 145024837 |
| 413 | GPT | 8 | 0.3608316566063 | 953 | 1491 | 145729688, 145729714-145729716, 145729720-145729721, 145729727, 145729749, 145729785, 145729794-145729796, 145729831-145729844, 145729987-145729994, 145730054, 145730065-145730066, 145730217-145730218, 145730222, 145730381-145730431, 145730476, 145730482-145730501, 145730504, 145730629-145730657, 145730672-145730820, 145730832-145730872, 145731231-145731310, 145731378-145731421, 145731438-145731514, 145731615-145731702, 145731722-145731736, 145731772, 145731884-145732039, 145732114-145732192, 145732205-145732226, 145732293-145732339, 145732372-145732383 |
| 414 | RECQL4 | 8 | 0.3650399779432 | 2303 | 3627 | 145736814-145736938, 145737064-145737153, 145737294-145737450, 145737527-145737588, 145737608-145737655, 145737677-145737707, 145737775-145737944, 145738025-145738118, 145738134-145738154, 145738235, 145738262-145738263, 145738276-145738409, 145738448-145738521, 145738601-145738683, 145738692, 145738695-145738768, 145738770-145738846, 145738955-145739096, 145739312-145739341, 145739353-145739407, 145739417-145739460, 145739482-145739491, 145739573-145739599, 145739617-145739622, 145739648-145739728, 145739849-145739864, 145739892-145739909, 145740322-145740332, 145740376, 145740383, 145740389, 145740435-145740456, 145740550, 145740590-145740591, 145740608, 145740763, 145740771, 145740792-145740795, 145740800, 145741152, 145741187-145741221, 145741252, 145741412-145741439, 145741503-145741530, 145741552-145741560, 145741575, 145741582, 145741613-145741690, 145741726-145741728, 145741786, 145741863, 145741869-145741899, 145741923-145741949, 145741962-145741996, 145742007, 145742010-145742020, 145742046-145742052, 145742056-145742064, 145742101, 145742470, 145742480-145742487, 145742505, 145742514, 145742525-145742574, 145742798-145742892, 145742986-145743019, 145743085-145743168 |
| 415 | DOCK8 | 9 | 0.98952380952381 | 66 | 6300 | 390518-390520, 396802-396816, 396851-396859, 396863, 396893-396895, 396915-396934, 399190-399197, 399201-399206, 399228 |
| 416 | VLDLR | 9 | 0.99618611746758 | 10 | 2622 | 2622208-2622214, 2622225-2622227 |
| 417 | KCNV2 | 9 | 0.997557997558 | 4 | 1638 | 2718975-2718978 |
| 418 | TPM2 | 9 | 0.99883040935673 | 1 | 855 | 35682116 |
| 419 | FXN | 9 | 0.98736176935229 | 8 | 633 | 71668067, 71668135, 71668157-71668162 |
| 420 | ROR2 | 9 | 0.99011299435028 | 28 | 2832 | 94712206-94712229, 94712242-94712245 |
| 421 | PTCH1 | 9 | 0.99746777163904 | 11 | 4344 | 98270582, 98270596-98270605 |
| 422 | FOXE1 | 9 | 0.97415329768271 | 29 | 1122 | 100616312-100616322, 100616701-100616703, 100616725-100616730, 100617136-100617144 |
| 423 | TGFBR1 | 9 | 0.99801587301587 | 3 | 1512 | 101867538-101867540 |
| 424 | MUSK | 9 | 0.99655172413793 | 9 | 2610 | 113547934-113547942 |
| 425 | NR5A1 | 9 | 0.9978354978355 | 3 | 1386 | 127245169-127245170, 127265419 |
| 426 | LMX1B | 9 | 0.98659517426273 | 15 | 1119 | 129376849-129376863 |
| 427 | ENG | 9 | 0.99089529590288 | 18 | 1977 | 130588085, 130616589-130616605 |
| 428 | GLE1 | 9 | 0.99761564139247 | 5 | 2097 | 131287654-131287657, 131287661 |
| 429 | POMT1 | 9 | 0.9880624426079 | 26 | 2178 | 134394343-134394344, 134394827-134394835, 134397434-134397439, 134397610, 134398332-134398339 |
| 430 | TTF1 | 9 | 0.99963208241354 | 1 | 2718 | 135277329 |
| 431 | CEL | 9 | 0.82078379568472 | 407 | 2271 | 135944521-135944527, 135944582-135944589, 135945985-135946018, 135946597-135946599, 135946609, 135946627-135946628, 135946633, 135946651-135946670, 135946680-135946703, 135946713-135946770, 135946778-135946803, 135946811-135946901, 135946917-135946999, 135947043-135947074, 135947085-135947101 |
| 432 | SURF1 | 9 | 0.9468438538206 | 48 | 903 | 136223124-136223128, 136223154, 136223276-136223291, 136223304-136223329 |
| 433 | ADAMTS13 | 9 | 0.91199813258637 | 377 | 4284 | 136293754-136293891, 136295059-136295082, 136295094-136295134, 136295165-136295166, 136295169-136295172, 136295177, 136295182, 136295211-136295221, 136298542-136298547, 136298553-136298556, 136298596-136298637, 136302022-136302026, 136302048-136302064, 136307587-136307591, 136307820-136307830, 136307839, 136307843, 136308539-136308549, 136308624-136308646, 136310104-136310111, 136310922-136310935, 136320488, 136320612-136320616, 136323171 |
| 434 | DBH | 9 | 0.99298813376483 | 13 | 1854 | 136522310-136522321, 136522341 |
| 435 | SARDH | 9 | 0.8955386289445 | 288 | 2757 | 136531857-136531878, 136531913-136531914, 136531917-136531930, 136531962-136531975, 136535706-136535793, 136535808-136535867, 136536657-136536659, 136536664, 136536671-136536673, 136536686-136536713, 136536746-136536775, 136536789-136536793, 136536802-136536819 |
| 436 | COL5A1 | 9 | 0.92006525285481 | 441 | 5517 | 137534034-137534133, 137582758-137582761, 137582793, 137582796, 137582808-137582811, 137582815-137582817, 137582833-137582925, 137591827-137591910, 137591963, 137593101-137593179, 137642686-137642694, 137642701-137642728, 137644463-137644491, 137645745-137645749 |
| 437 | LHX3 | 9 | 0.87841191066998 | 147 | 1209 | 139089344-139089345, 139089374-139089381, 139090601-139090615, 139090784-139090797, 139090848-139090869, 139094800-139094885 |
| 438 | INPP5E | 9 | 0.86614987080103 | 259 | 1935 | 139326276-139326280, 139326305-139326311, 139326326, 139326340-139326355, 139326379-139326397, 139326421-139326437, 139327677-139327690, 139327730-139327731, 139329259, 139333060-139333065, 139333145, 139333177-139333183, 139333197-139333198, 139333208-139333222, 139333336-139333343, 139333381-139333388, 139333542-139333547, 139333579, 139333590-139333593, 139333622-139333678, 139333688-139333695, 139333724, 139333727-139333741, 139333766-139333781, 139333812-139333832, 139333858 |
| 439 | NOTCH1 | 9 | 0.53625456442358 | 3556 | 7668 | 139390540-139390541, 139390692-139390695, 139390805, 139390813, 139390832-139390839, 139390873-139390921, 139390953-139390966, 139390998-139391001, 139391034-139391075, 139391148-139391151, 139391189-139391225, 139391293-139391335, 139391380, 139391424-139391437, 139391476, 139391498-139391565, 139391598-139391620, 139391636, 139391643-139391660, 139391681, 139391690-139391691, 139391701-139391718, 139391721, 139391770-139391788, 139391813, 139391826-139391838, 139391850-139391853, 139391857-139391861, 139391905, 139391973-139392010, 139393369-139393374, 139393564-139393568, 139393598-139393601, 139393659, 139393662-139393672, 139395004-139395012, 139395017-139395020, 139395023-139395025, 139395028-139395030, 139395039-139395051, 139395086-139395126, 139395155, 139395158, 139395180-139395181, 139395195, 139395209-139395210, 139395212, 139395242-139395250, 139395287, 139395290-139395299, 139396200-139396230, 139396290-139396312, 139396325-139396333, 139396453-139396463, 139396726-139396735, 139396747-139396748, 139396837, 139396883-139396889, 139396902-139396940, 139397634, 139397645-139397647, 139397658-139397675, 139397701-139397723, 139397781, 139399125-139399136, 139399154-139399156, 139399159-139399180, 139399200-139399226, 139399276, 139399289, 139399371, 139399374-139399391, 139399394-139399395, 139399398-139399399, 139399409-139399425, 139399428, 139399460-139399463, 139399519-139399543, 139399775-139399821, 139399843-139399867, 139399877, 139399886-139399918, 139399936-139399952, 139400013-139400014, 139400023, 139400028-139400039, 139400063-139400105, 139400118, 139400152-139400196, 139400209-139400211, 139400215, 139400234, 139400237, 139400241-139400243, 139400261-139400310, 139400322-139400333, 139400979, 139400988-139401012, 139401061-139401091, 139401192-139401195, 139401265, 139401282-139401325, 139401334-139401373, 139401392-139401411, 139401811, 139401867-139401872, 139402423-139402445, 139402687-139402696, 139402727-139402761, 139402785-139402789, 139402796-139402803, 139403348, 139403354-139403416, 139403447-139403482, 139403508-139403521, 139404379-139404384, 139404410-139404413, 139405121-139405129, 139405145-139405164, 139405189-139405214, 139405244-139405257, 139405617, 139405624, 139405632-139405633, 139405637, 139405661-139405663, 139405680-139405696, 139405702, 139405719-139405723, 139407473-139407578, 139407855-139407909, 139407932, 139407942-139407955, 139408974-139408977, 139409016-139409025, 139409036-139409053, 139409063-139409079, 139409082-139409086, 139409102-139409154, 139409742-139409836, 139409935-139410028, 139410037, 139410046-139410055, 139410090-139410096, 139410100, 139410115, 139410123-139410125, 139410129-139410168, 139410433-139410438, 139410494-139410496, 139410508, 139410526-139410545, 139411737-139411790, 139411804-139411837, 139412204-139412277, 139412285-139412389, 139412589-139412599, 139412612, 139412616, 139412620-139412674, 139412686-139412695, 139412725-139412744, 139413046-139413147, 139413167-139413206, 139413218-139413224, 139413244-139413255, 139413274-139413276, 139413895-139413905, 139413919-139413921, 139413930-139413947, 139413953-139413969, 139413980-139414017, 139417302-139417640, 139418169-139418431, 139438476-139438492, 139438517-139438554, 139440178-139440238 |
| 440 | AGPAT2 | 9 | 0.60931899641577 | 327 | 837 | 139568204-139568271, 139568298, 139568308-139568313, 139568329-139568350, 139568376-139568379, 139569244, 139569258-139569259, 139571444-139571490, 139581634-139581809 |
| 441 | SLC34A3 | 9 | 0.65888888888889 | 614 | 1800 | 140127048-140127073, 140127096-140127102, 140127140-140127155, 140127367, 140127681, 140127715-140127729, 140127799, 140127810, 140127824-140127832, 140128134, 140128330-140128385, 140128561-140128672, 140128682-140128704, 140128721-140128728, 140128868-140128910, 140128953, 140129131-140129135, 140129146, 140129177-140129183, 140130408-140130524, 140130542-140130575, 140130587-140130592, 140130605-140130610, 140130647-140130692, 140130724, 140130732-140130740, 140130752, 140130773, 140130776-140130778, 140130781-140130788, 140130821-140130868 |
| 442 | EHMT1 | 9 | 0.85039774185271 | 583 | 3897 | 140513484-140513490, 140513493-140513494, 140605432-140605433, 140605444, 140605450-140605458, 140611078-140611634, 140671237-140671239, 140672500-140672501 |
| 443 | SHOX | X | 0.60864618885097 | 344 | 879 | 591633-591653, 591660-591731, 591756-591855, 591882-591886, 591895-591909, 595353-595357, 595384-595415, 595425-595476, 595488-595504, 595525-595536, 595543-595549, 595556-595561 |
| 444 | CSF2RA | X | 0.58927203065134 | 536 | 1305 | 1404712-1404730, 1404773-1404804, 1409298-1409313, 1409356-1409383, 1413221-1413354, 1414320-1414325, 1414332-1414349, 1419384-1419421, 1419435-1419438, 1419444, 1419455-1419519, 1422154-1422171, 1422177-1422255, 1422816-1422876, 1422880-1422883, 1422897, 1422908-1422912, 1424378-1424380, 1428302-1428305 |
| 445 | PHKA2 | X | 0.99892125134844 | 4 | 3708 | 18917311-18917314 |
| 446 | ARX | X | 0.9911190053286 | 15 | 1689 | 25031659-25031670, 25031777-25031779 |
| 447 | RPGR | X | 0.76785198034114 | 803 | 3459 | 38144968-38144970, 38144981-38144982, 38145032-38145042, 38145061-38145064, 38145068-38145087, 38145113-38145117, 38145137-38145161, 38145166-38145169, 38145174-38145176, 38145181-38145183, 38145186-38145188, 38145214-38145684, 38145694-38145695, 38145704-38145718, 38145732-38145836, 38145968-38145971, 38146003-38146029, 38146096, 38146100, 38146148-38146161, 38146350-38146367, 38147114-38147122, 38147159-38147191, 38147225-38147244 |
| 448 | NYX | X | 0.99170124481328 | 12 | 1446 | 41333249-41333252, 41333290, 41333950-41333956 |
| 449 | AR | X | 0.99855229822657 | 4 | 2763 | 66765159-66765162 |
| 450 | MED12 | X | 0.99647995102541 | 23 | 6534 | 70360680-70360702 |
| 451 | TAF1 | X | 0.99929602252728 | 4 | 5682 | 70586227-70586230 |
| 452 | SLC6A8 | X | 0.9664570230608 | 64 | 1908 | 152954030-152954031, 152954037, 152954042, 152954101-152954104, 152954140-152954195 |
| 453 | ABCD1 | X | 0.99195710455764 | 18 | 2238 | 153008473-153008486, 153008675-153008678 |
| 454 | MECP2 | X | 0.98997995991984 | 15 | 1497 | 153363061-153363067, 153363096-153363103 |
| 455 | OPN1MW | X | 0.99360730593607 | 7 | 1095 | 153453450-153453456 |
| 456 | OPN1MW | X | 0.99360730593607 | 7 | 1095 | 153490568-153490574 |
| 457 | FLNA | X | 0.99206948640483 | 63 | 7944 | 153581554-153581557, 153581739-153581741, 153587937-153587947, 153589748-153589758, 153590450-153590451, 153590940, 153599436-153599466 |
| 458 | EMD | X | 0.98823529411765 | 9 | 765 | 153607919-153607926, 153608145 |
| 459 | TAZ | X | 0.96070975918885 | 31 | 789 | 153640223-153640227, 153640261-153640267, 153640461, 153640465-153640482 |
| Effect rank | Variant | Phase/ Zygosity | Allele freq | Impact | Evaluation | Summary / Info |
|---|---|---|---|---|---|---|
| 3 | APOE-C130R | het unknown | 0.135 | Complex/Other pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests |
| 3 | COL4A1-Q1334H | het unknown | 0.325 | Dominant pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.16 (benign), Testable gene in GeneTests with associated GeneReview |
| 3 | COL4A1-T555P | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2.5 | DSP-V30M | het unknown | 0.002 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2.5 | 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 |
| 2 | CHIT1-A442G | het unknown | 0.109 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | CHIT1-G102S | homozygous | 0.281 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.057 (benign), Testable gene in GeneTests |
| 2 | CHIT1-E74K | het unknown | 0.003 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 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 | TAS2R38-I296V | homozygous | 0.463 | Unknown benign | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.984 (probably damaging) |
| 2 | TAS2R38-A49P | homozygous | 0.431 | Unknown benign | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 2 | ABCG8-D19H | het unknown | 0.058 | Complex/Other pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | ABCG8-V632A | het unknown | 0.839 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | MTHFR-R594Q | homozygous | 0.040 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | MTHFR-E429A | homozygous | 0.255 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.099 (benign), Testable gene in GeneTests |
| 2 | APOB-S4338N | homozygous | 0.802 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | APOB-R3638Q | het unknown | 0.064 | 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 | het unknown | 0.366 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | APOB-T98I | het unknown | 0.247 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | APOB-LAL12Del | het unknown | Unknown | 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 |
| 1.5 | APOA5-S19W | het unknown | 0.065 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.778 (possibly damaging) |
| 1.5 | CILP-G1166S | het unknown | 0.734 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1.5 | CILP-Q979R | homozygous | 0.986 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1.5 | CILP-K575E | homozygous | 0.986 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1.5 | CILP-I395T | homozygous | 0.632 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1.5 | MBL2-G54D | het unknown | 0.104 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests |
| 1.5 | MBL2-R52C | het unknown | 0.049 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests |
| 1.125 | VWF-G2705R | het unknown | 0.046 | Unknown benign | Insufficiently evaluated | Prioritization score: 5 Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1.125 | VWF-R854Q | het unknown | 0.004 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 5 Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1.125 | VWF-Q852R | homozygous | 0.924 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1.125 | VWF-T789A | homozygous | 0.431 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview |
| 1.125 | 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 |
| 1.125 | VWF-V471I | het unknown | 0.118 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1.125 | FUT2-W154* | het unknown | 0.491 | Recessive protective | Insufficiently evaluated | Prioritization score: 1 Nonsense mutation |
| 1.125 | FUT2-G258S | het unknown | 0.509 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.954 (probably damaging) |
| 1 | SP100-V399Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | SP100-M433V | het unknown | 0.247 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.005 (benign) |
| 1 | SP100-A796T | het unknown | 0.068 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | SP100-M826T | homozygous | 0.821 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | C2orf83-W141* | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 1 | C2orf83-E104Q | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | C2orf83-S45L | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | SP110-M523T | het unknown | 0.415 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SP110-L425S | het unknown | 0.863 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SP110-G299R | het unknown | 0.701 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SP110-E207K | het unknown | 0.089 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SP110-A128V | het unknown | 0.071 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SP110-W112R | het unknown | 0.917 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SMARCAL1-S315R | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.27 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-E32484D | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-R32018H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-R29962H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-I26820T | het unknown | 0.318 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-I25199V | het unknown | 0.320 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-T24045M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-I23649T | het unknown | 0.224 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-R22371C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-A19840P | homozygous | 0.996 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-V19783I | het unknown | 0.223 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-T18827I | het unknown | 0.312 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-P17286L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-R16903H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-N16125D | het unknown | 0.322 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-T13887A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-E10146EVLPEEEE | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-R9852H | het unknown | 0.224 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-G9378R | het unknown | 0.431 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-I9278V | het unknown | 0.329 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-R8194Q | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-N7559S | het unknown | 0.153 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-S7181N | het unknown | 0.155 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-A7111E | het unknown | 0.268 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-E6900A | het unknown | 0.150 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-D6218H | het unknown | 0.157 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-S3419N | homozygous | 0.899 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-V3261M | homozygous | 0.893 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-S1295L | homozygous | 0.950 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-K1201E | het unknown | 0.731 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-R328C | het unknown | 0.088 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | ZNF761-L47Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ZNF761-I122S | het unknown | 0.686 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | ZNF761-V168I | het unknown | 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 | HADHB-T2TT | homozygous | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | SOS1-P655L | het unknown | 0.007 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | ABCG5-Q604E | het unknown | 0.214 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.73 (possibly damaging), Testable gene in GeneTests |
| 1 | ABCG5-R50C | het unknown | 0.068 | Unknown protective | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests |
| 1 | FOXD4L1-L241P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | FOXD4L1-G293Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | VSIG10L-Q860Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | VSIG10L-R592Q | het unknown | 0.563 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | VSIG10L-M356I | het unknown | 0.562 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | VSIG10L-N3T | het unknown | 0.605 | 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 | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Frameshift | |
| 1 | SCARF2-P747Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Frameshift | |
| 1 | SCARF2-T425S | het unknown | 0.090 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | ADA-D8N | het unknown | 0.030 | Dominant benign | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | GABRG2-I215V | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | ADRB2-G16R | homozygous | 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 | ZNF204P-E93Q | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ZNF204P-K6Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | TNXB-R48P | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | PEX6-V882I | het unknown | 0.021 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQB1-Q253H | het unknown | 0.290 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQB1-R252H | het unknown | 0.267 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQB1-V235I | het unknown | 0.178 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQB1-D167G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQB1-A118G | homozygous | 0.080 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQB1-T109R | het unknown | 0.140 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQB1-EL106AV | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQB1-T103K | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQB1-G102R | homozygous | 0.454 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQB1-EV98DI | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQB1-D89V | homozygous | 0.232 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQB1-F41Y | homozygous | 0.782 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | AX746964-G175Shift | homozygous | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | AX746964-K166I | homozygous | 0.628 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | NR_027127-W61* | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 1 | UBASH3A-S18G | homozygous | 0.626 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | UBASH3A-L28F | homozygous | 0.036 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.949 (probably damaging) |
| 1 | KRTAP7-1-Y17Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | NR_027052-Q90* | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 1 | TCN2-R259P | het unknown | 0.636 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | TCN2-L376S | het unknown | 0.035 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests |
| 1 | CNGA1-S3F | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | CCDC50-L121F | homozygous | 0.038 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.834 (possibly damaging), Testable gene in GeneTests |
| 1 | CCDC50-R466W | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | ZNF167-N494Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | 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 |
| 1 | NPC1-M642I | homozygous | 0.738 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | NPC1-P237S | het unknown | 0.012 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | NPC1-H215R | het unknown | 0.296 | Complex/Other protective | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TGFB1-T263I | het unknown | 0.021 | Dominant protective | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TYR-R402Q | het unknown | 0.205 | Complex/Other benign | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.997 (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 | TRIM64-I58T | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | TRIM64-V68L | homozygous | 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 | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | TRIM64-E242V | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | TRIM64-Q358R | homozygous | 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 | ACAD10-A911V | homozygous | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | KRT4-G160GAGGFGAGFGTGGFG | homozygous | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | SLCO1A2-E172D | het unknown | 0.042 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.997 (probably damaging) |
| 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 | ABCC2-Y39F | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | ABCC2-V1188E | het unknown | 0.062 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | ABCC2-C1515Y | het unknown | 0.096 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | PINK1-A340T | het unknown | 0.038 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | PINK1-N521T | het unknown | 0.269 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | PADI6-V343Shift | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | DPYD-I543V | het unknown | 0.185 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | DPYD-R29C | homozygous | 0.714 | Complex/Other pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 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-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 | PTCHD3-*768Q | homozygous | 0.630 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | PTCHD3-I584M | homozygous | 0.960 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | PTCHD3-M521T | homozygous | 0.631 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | PTCHD3-D473G | homozygous | 0.630 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.849 (possibly damaging) |
| 1 | PTCHD3-C407G | homozygous | 0.419 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 1.0 (probably damaging) |
| 1 | PTCHD3-S309Shift | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | CACNA1S-L1800S | het unknown | 0.272 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | CACNA1S-L458H | homozygous | 0.273 | Unknown benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | CFH-V62I | het unknown | 0.392 | Complex/Other protective | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | CFH-H402Y | het unknown | 0.626 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HNF1A-I27L | homozygous | 0.260 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | HNF1A-S487N | homozygous | 0.246 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | HNF1A-S574G | homozygous | 0.986 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | ATP6V0A2-A813V | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.997 (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 | TSEN54-I137L | het unknown | 0.102 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.846 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | TSEN54-Q389P | het unknown | 0.072 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.053 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | TSEN54-P483A | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.999 (probably damaging), 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 | SYNE1-F7302V | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SYNE1-L5015M | het unknown | 0.808 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SYNE1-S4596T | het unknown | 0.793 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SYNE1-D4148H | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | SYNE1-K4121R | het unknown | 0.784 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | 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 |
| 1 | SYNE1-V1035A | homozygous | 0.534 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.673 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | C19orf55-G398Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | HSH2D-S223Shift | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | INSR-A2G | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | COPZ2-A23Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | COPZ2-G19Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 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 | C14orf104-E62D | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | SSTR1-*392*ARATQGL* | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 1 | GPHB5-F53Shift | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | CYBA-V174A | het unknown | 0.676 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | CYBA-Y72H | homozygous | 0.620 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | ELAC2-S217L | het unknown | 0.273 | Complex/Other pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.025 (benign), Testable gene in GeneTests |
| 1 | PIK3R6-L609Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | NR_027336-P160L | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | NR_027336-V73F | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | NR_027336-W23* | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 1 | DHDH-S66N | homozygous | 0.380 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | DHDH-A173Shift | homozygous | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | DHDH-V247A | homozygous | 0.329 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | DHDH-E294Shift | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | BC112980-K147Shift | 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 | GSN-A129T | het unknown | 0.015 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests |
| 1 | NEFL-S472Shift | homozygous | Unknown benign | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 1 | FAM58A-R109H | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | FAM58A-Q15Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests | |
| 1 | FAM58A-G4Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests | |
| 1 | C8orf49-G26R | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | C8orf49-I81V | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | C8orf49-C194* | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 1 | IGBP1-R106Q | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | RPGR-Q456R | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 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 | PCDH11Y-V917F | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | PCDH11Y-N1012K | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown | |
| 1 | TCEAL6-Q175Shift | homozygous | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | DGKK-L1014Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | OPHN1-T301M | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | ATG9B-A765Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 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-K377R | het unknown | 0.208 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.75 | BANK1-W40C | het unknown | 0.013 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.75 | BANK1-R61H | het unknown | 0.283 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | BANK1-A383T | het unknown | 0.295 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.778 (possibly damaging) |
| 0.75 | BANK1-C650R | homozygous | 0.991 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | ITGAM-R77H | het unknown | 0.105 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.048 (benign) |
| 0.75 | ITGAM-M441T | het unknown | 0.155 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | ITGAM-A859V | het unknown | 0.163 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | ITGAM-P1147S | het unknown | 0.162 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | COMT-V158M | het unknown | 0.448 | 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 |
| 0.5 | TRPM5-G900S | het unknown | 0.077 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TRPM5-V335L | het unknown | 0.084 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging) |
| 0.5 | TRPM5-V254A | homozygous | 0.750 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 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 | AP1S2-T35A | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | AP1S2-R29P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 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-R1745H | homozygous | 0.336 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (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 | ADNP2-T86A | het unknown | 0.007 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.615 (possibly damaging) |
| 0.5 | ADNP2-G986E | het unknown | 0.007 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.923 (probably damaging) |
| 0.5 | KISS1R-L364H | homozygous | 0.884 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 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 | 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 | 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 | GGH-T151I | het unknown | 0.083 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.846 (possibly damaging) |
| 0.5 | GGH-A31T | het unknown | 0.210 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | GGH-C6R | het unknown | 0.228 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 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 | TSPAN32-M91T | het unknown | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | MLLT1-A297T | het unknown | 0.030 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 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 | 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 | TRIM65-L509P | het unknown | 0.509 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TRIM65-S250L | het unknown | 0.004 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.917 (probably damaging) |
| 0.5 | TRIM65-V222G | het unknown | 0.435 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ABCC8-V1572I | het unknown | 0.055 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 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 | LAMA1-K2002E | het unknown | 0.657 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | LAMA1-A1763V | het unknown | 0.151 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | LAMA1-D1682V | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.656 (possibly damaging) |
| 0.5 | LAMA1-M1340V | het unknown | 0.283 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.942 (probably damaging) |
| 0.5 | LAMA1-N674T | homozygous | 0.209 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.167 (benign) |
| 0.5 | SGSH-R456H | homozygous | 0.293 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 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-V780I | homozygous | 0.732 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ITGB4-L1779P | homozygous | 0.604 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 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 | het unknown | 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 | SLC6A5-K457N | het unknown | 0.113 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.051 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC6A5-D463N | het unknown | 0.231 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.122 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC26A7-I215V | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.97 (probably damaging) |
| 0.5 | ANKRD12-T531S | het unknown | 0.014 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | ANKRD12-K906R | het unknown | 0.542 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.956 (probably damaging) |
| 0.5 | ANKRD12-L998S | het unknown | 0.020 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | PEX2-C184R | homozygous | 0.989 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | KIAA1632-S1083L | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | KIAA1632-E844D | het unknown | 0.044 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | PLG-D472N | homozygous | 0.261 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MYO5B-M1688V | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MYO5B-L1055LL | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | MYO5B-R918H | het unknown | 0.099 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 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 | 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 | 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 | LAMA3-N2815K | het unknown | 0.152 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 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 | TYK2-I684S | het unknown | 0.069 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests |
| 0.5 | TYK2-V362F | het unknown | 0.225 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.5 | DSG3-S771F | het unknown | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) |
| 0.5 | DSG3-T912A | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | LRRC25-P294S | het unknown | 0.722 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.992 (probably damaging) |
| 0.5 | LRRC25-C285Y | het unknown | 0.011 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | TSPAN16-S233Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | NAT1-V211I | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | NAT1-S276A | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | NAT1-D313V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 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 | 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-K1491R | het unknown | 0.223 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.009 (benign), 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 | NAT2-R197Q | homozygous | 0.282 | Recessive pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NAT2-R268K | homozygous | 0.581 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TPO-A373S | homozygous | 0.404 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | TPO-S398T | homozygous | 0.785 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.988 (probably damaging), Testable gene in GeneTests |
| 0.5 | ANXA11-R230C | homozygous | 0.341 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | LILRB2-R322H | homozygous | 0.504 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | LILRB2-C306W | homozygous | 0.406 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | LILRB2-E161D | homozygous | 0.831 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | LILRB2-R103H | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | CDH23-N1349D | homozygous | 0.813 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-R1434Q | het unknown | 0.036 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-A1572T | homozygous | 0.739 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-V1672I | het unknown | 0.139 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-T1996S | het unknown | 0.414 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-E2041K | het unknown | 0.261 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-R2355Q | het unknown | 0.255 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-P2377L | het unknown | 0.248 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-F3122L | het unknown | 0.026 | 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 | AK094748-Q220* | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | NR_027251-H75Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | MCPH1-R171S | homozygous | 0.924 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-D314H | homozygous | 0.681 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.136 (benign), 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-A761V | het unknown | 0.408 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-P828S | het unknown | 0.261 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-S524SP | homozygous | 0.578 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-V671G | homozygous | 0.881 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-R4029K | homozygous | 0.540 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH6-V141M | homozygous | 0.928 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DNAH6-G1694A | het unknown | 0.122 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.026 (benign) |
| 0.5 | DNAH6-Y2119C | het unknown | 0.021 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) |
| 0.5 | DNAH6-V2550A | het unknown | 0.157 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | DNAH6-K2859R | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.004 (benign) |
| 0.5 | VWA3B-I513T | het unknown | 0.044 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.99 (probably damaging) |
| 0.5 | VWA3B-L677V | het unknown | 0.626 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | VWA3B-V885M | het unknown | 0.573 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | VWA3B-R1245K | het unknown | 0.968 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CHAT-L243F | het unknown | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.202 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CHAT-V461M | homozygous | 0.961 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | APLF-I100V | het unknown | 0.183 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | APLF-S224T | het unknown | 0.275 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | APLF-R313Del | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | APLF-Q433K | het unknown | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | MLL3-G845E | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) | |
| 0.5 | MLL3-I707T | het unknown | 0.308 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MLL3-M689I | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MLL3-L687F | het unknown | 0.200 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.006 (benign) |
| 0.5 | MLL3-P468T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | MLL3-L291F | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.96 (probably damaging) |
| 0.5 | SLC3A1-M618I | homozygous | 0.542 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.5 | COL2A1-E142D | het unknown | 0.037 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL2A1-T9S | homozygous | 0.791 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FSHR-S680N | homozygous | 0.556 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | FSHR-A307T | homozygous | 0.451 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 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 | FPR1-E346A | homozygous | 0.799 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FPR1-N192K | het unknown | 0.434 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FPR1-R190W | het unknown | 0.113 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FPR1-V101L | het unknown | 0.342 | 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 | NPHS1-E117K | homozygous | 0.227 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests |
| 0.5 | RYR1-G2060C | het unknown | 0.051 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.345 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DLL3-L142Q | het unknown | 0.054 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.707 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | PCMTD1-R248H | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.97 (probably damaging) |
| 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 | TACC2-V170I | het unknown | 0.265 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TACC2-L830F | het unknown | 0.230 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TACC2-A1066T | het unknown | 0.188 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TACC2-W1103R | homozygous | 0.988 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 0.5 | TACC2-A1425T | het unknown | 0.267 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TACC2-T2482M | het unknown | 0.005 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | CACNA1A-E992V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | CACNA1A-E917D | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | GTPBP3-V250A | het unknown | 0.759 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | GTPBP3-R368H | het unknown | 0.021 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | KCNQ3-E414G | het unknown | 0.015 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.177 (benign), Testable gene in GeneTests with associated GeneReview |
| 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 | CYP2B6-R487C | het unknown | 0.088 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.005 (benign) |
| 0.5 | HES2-P139S | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | ETFB-T245M | het unknown | 0.536 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ETFB-P94Shift | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests |
| 0.5 | AK054965-S233Y | het unknown | 0.164 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | AK054965-F214Shift | het unknown | 0.172 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift |
| 0.5 | AK054965-K209* | het unknown | 0.172 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Nonsense mutation |
| 0.5 | AK054965-R105P | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | AK054965-I38M | het unknown | 0.203 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | AK054965-R6Shift | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | CHRNA2-T125A | homozygous | 0.580 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CHRNA2-T22I | het unknown | 0.148 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SYNGR4-R27W | het unknown | 0.037 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | LYPD4-T184S | het unknown | 0.035 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.983 (probably damaging) |
| 0.5 | CC2D2B-Q401L | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 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 | 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 | RAB3IL1-H323Y | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.996 (probably damaging) |
| 0.5 | RAB3IL1-Q58* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | FAM201A-G53D | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | FAM201A-Q115* | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | EXOSC3-Y225H | het unknown | 0.069 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.923 (probably damaging) |
| 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 | FANCM-S175F | het unknown | 0.172 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FANCM-V878L | het unknown | 0.189 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FANCM-I1460V | het unknown | 0.073 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FANCM-P1812A | het unknown | 0.075 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.958 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | IL10RA-I224V | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | IL10RA-R351G | homozygous | 0.726 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | IL10RA-S420L | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.983 (probably damaging) |
| 0.5 | ACIN1-S647SRS | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | ACIN1-S478F | het unknown | 0.044 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.981 (probably damaging) |
| 0.5 | ACIN1-S467P | het unknown | 0.448 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.96 (probably damaging) |
| 0.5 | ACIN1-A447P | homozygous | 0.996 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ACIN1-I311M | het unknown | 0.497 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 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 | PCK2-Q121P | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PCK2-R521H | het unknown | 0.090 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | COCH-T352S | homozygous | 0.509 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ZFYVE26-R2411H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | ZFYVE26-N1891S | homozygous | 0.942 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ZFYVE26-T898S | het unknown | 0.090 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests |
| 0.5 | MLH3-P844L | homozygous | 0.443 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), 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 | DUOX2-S1067L | het unknown | 0.699 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | DUOX2-P982A | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | DUOX2-R701Q | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | DUOX2-H678R | het unknown | 0.182 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | DUOX2-P138L | het unknown | 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 | 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 | 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 | ATM-D1853N | het unknown | 0.100 | Unknown not reviewed | 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 | TSHR-E727D | homozygous | 0.920 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 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 | SERPINA1-V237A | homozygous | 0.327 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | JAG2-R1079W | het unknown | 0.006 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | JAG2-E463K | homozygous | 0.615 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 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 | homozygous | 0.232 | Complex/Other benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.03 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | RPGRIP1-E1033Q | homozygous | 0.262 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ROR2-V819I | homozygous | 0.704 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ROR2-T245A | het unknown | 0.678 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | 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 | DFNB31-V783A | het unknown | 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 | het unknown | 0.492 | 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 | FKTN-R203Q | homozygous | 0.263 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.166 (benign), Testable gene in GeneTests with associated GeneReview |
| 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 | KRT5-D197E | het unknown | 0.075 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview |
| 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-S1647T | het unknown | 0.258 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRRK2-M2397T | homozygous | 0.614 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GYS2-M363V | homozygous | 0.739 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | KRT6B-Y497C | het unknown | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | KRT6B-I365V | het unknown | 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 | MUSK-I133T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | MUSK-S159G | het unknown | 0.117 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MUSK-M413I | het unknown | 0.096 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CD4-I412T | het unknown | 0.006 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | P2RX7-G150R | het unknown | 0.013 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | P2RX7-Y155H | het unknown | 0.600 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | P2RX7-T357S | het unknown | 0.105 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | P2RX7-E496A | het unknown | 0.149 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | P2RX7-N568I | homozygous | 0.984 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NRIP2-R76* | het unknown | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | SUCLA2-S199T | homozygous | 0.741 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | WNK1-T1056P | homozygous | 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 | homozygous | 0.432 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 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 | 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 | HPD-T33A | homozygous | 0.902 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | KNTC1-H748R | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.966 (probably damaging) |
| 0.5 | KNTC1-M983T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | CDK5RAP2-V1540L | het unknown | 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 | SGCG-N287S | homozygous | 0.821 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | JAK2-R1063H | het unknown | 0.004 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | KIF23-T51I | het unknown | 0.051 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.898 (probably damaging) |
| 0.5 | RECQL4-TV909NL | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | RECQL4-H411F | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | RECQL4-E267D | het unknown | 0.387 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CTNS-S174I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 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 | USP6-H89N | het unknown | 0.229 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | USP6-S91T | het unknown | 0.236 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | USP6-W475R | homozygous | 0.637 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | USP6-R1101W | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | FANCA-G809D | homozygous | 0.434 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FANCA-G501S | homozygous | 0.483 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | 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 |
| 0.5 | ZNF276-W263R | het unknown | 0.370 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.776 (possibly damaging) |
| 0.5 | ZNF276-R351W | het unknown | 0.007 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | HYDIN-E4159Q | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-T4004A | het unknown | 0.432 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-Q3904Shift | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift |
| 0.5 | HYDIN-M3868R | het unknown | 0.306 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-V3839L | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-V3741I | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-A3738T | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-L3315P | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-A3290P | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-I2693S | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-K2588R | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-D2569N | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-G2557E | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-K2522KAER | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | HYDIN-T2520LER | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | HYDIN-L2501S | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-P2454Q | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | HYDIN-N2444I | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | HYDIN-E2305G | het unknown | 0.599 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.988 (probably damaging) |
| 0.5 | HYDIN-R2297G | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | HYDIN-Q2241R | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | HYDIN-V2098M | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | HYDIN-R2086C | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | HYDIN-R2017H | het unknown | 0.020 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.994 (probably damaging) |
| 0.5 | HYDIN-R1951Q | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.269 (possibly damaging) |
| 0.5 | HYDIN-I1533V | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | HYDIN-P1491H | het unknown | 0.369 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.994 (probably damaging) |
| 0.5 | HYDIN-V1228L | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-I1077V | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.082 (benign) |
| 0.5 | HYDIN-N724D | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.955 (probably damaging) |
| 0.5 | HYDIN-T690A | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.955 (probably damaging) |
| 0.5 | DBH-A211T | het unknown | 0.089 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DOCK8-A22V | homozygous | 0.317 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.009 (benign), Testable gene in GeneTests |
| 0.5 | DOCK8-P97T | het unknown | 0.465 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.961 (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-A597V | het unknown | 0.075 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.96 (probably damaging), Testable gene in GeneTests |
| 0.5 | SPG7-T503A | het unknown | 0.142 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SPG7-R688Q | het unknown | 0.142 | Recessive pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.203 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | IGHMBP2-L201S | homozygous | 0.777 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | IGHMBP2-T879K | homozygous | 0.209 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, 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 | KRTAP3-2-R27C | homozygous | 0.132 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | DHX58-Q425R | het unknown | 0.355 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DHX58-R95Q | het unknown | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.296 (possibly damaging) |
| 0.5 | ITGA2B-I874S | homozygous | 0.380 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 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 | TG-S734A | het unknown | 0.592 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TG-M1028V | het unknown | 0.591 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.5 | TG-D1312G | homozygous | 0.456 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TG-D1838N | homozygous | 0.374 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.061 (benign), Testable gene in GeneTests |
| 0.5 | TG-R1999W | het unknown | 0.395 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TG-W2501R | homozygous | 0.614 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.031 (benign), Testable gene in GeneTests |
| 0.5 | TG-R2530Q | het unknown | 0.572 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.5 | MYH13-H1862R | het unknown | 0.095 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MYH13-D1076E | het unknown | 0.115 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MYH13-M1071V | het unknown | 0.642 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.025 (benign) |
| 0.5 | MYH13-G701R | het unknown | 0.012 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.978 (probably damaging) |
| 0.5 | ZC3H3-R578C | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | COX10-R159Q | homozygous | 0.486 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | RAI1-G90A | het unknown | 0.415 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RAI1-P165T | het unknown | 0.339 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | NQO1-R139W | het unknown | 0.030 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.946 (probably damaging) |
| 0.5 | SLC7A6OS-Y220C | het unknown | 0.049 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.986 (probably damaging) |
| 0.5 | SLC7A6OS-G45D | homozygous | 0.637 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SLC28A1-V189I | homozygous | 0.303 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SLC28A1-Q237K | het unknown | 0.204 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PDE8A-L55V | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | IGF1R-R511Q | het unknown | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.521 (possibly damaging), Testable gene in GeneTests |
| 0.5 | ALPK3-T414S | het unknown | 0.196 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.436 (possibly damaging) |
| 0.5 | ALPK3-G579E | het unknown | 0.194 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.961 (probably damaging) |
| 0.5 | ALPK3-Q602R | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.866 (probably damaging) |
| 0.5 | ALPK3-P1299L | homozygous | 0.789 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ALPK3-L1622P | het unknown | 0.193 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.895 (probably damaging) |
| 0.5 | KIAA1024-R581W | het unknown | 0.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
| 0.5 | NR2E3-E140G | het unknown | 0.013 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | NR2E3-M163T | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 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 | 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 | BBS4-I354T | homozygous | 0.529 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CHRNB4-R349C | het unknown | 0.006 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | RNF151-V66I | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | RNF151-H130Q | het unknown | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | RNF151-I242V | het unknown | 0.040 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | SLX4-S1271F | het unknown | 0.040 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.679 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 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 | 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 | CETP-V422I | homozygous | 0.589 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CDH11-S373A | het unknown | 0.689 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CDH11-V347L | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | TMEM126B-A168V | het unknown | 0.018 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
| 0.5 | ADAMTS13-Q448E | homozygous | 0.297 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SETX-S2612G | het unknown | 0.075 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SETX-I2587V | het unknown | 0.450 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SETX-T1855A | het unknown | 0.310 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SETX-I1386V | het unknown | 0.691 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SETX-G1252R | het unknown | 0.690 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SETX-D1192E | het unknown | 0.790 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SETX-A660G | het unknown | 0.115 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MYH11-V1296A | het unknown | 0.046 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCC1-G671V | het unknown | 0.044 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | ABCC6-R1268Q | het unknown | 0.219 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCC6-M848V | homozygous | 0.962 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LHCGR-N312S | homozygous | 0.490 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | FMO3-E158K | homozygous | 0.429 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SPAG17-K1747E | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.949 (probably damaging) |
| 0.5 | ARSB-V358M | homozygous | 0.320 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.117 (benign), Testable gene in GeneTests |
| 0.5 | PTPN22-W620R | homozygous | 0.934 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HEXB-L62S | homozygous | 0.968 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | IL7R-I66T | het unknown | 0.699 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | IL7R-V138I | het unknown | 0.745 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | IL7R-I356V | het unknown | 0.294 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AGA-T149S | homozygous | 0.923 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | UFSP2-K103R | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.985 (probably damaging) |
| 0.5 | DNAH5-T4220A | het unknown | 0.061 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.959 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 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-H12Q | het unknown | 0.924 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | AMACR-E277K | homozygous | 0.756 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AMACR-L201S | homozygous | 0.748 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AMACR-G175D | homozygous | 0.381 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AMACR-V9M | homozygous | 0.415 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | GPR98-L1093F | homozygous | 0.731 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-V1951I | homozygous | 0.732 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-N1985D | het unknown | 0.192 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-L2004F | het unknown | 0.234 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.841 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-N2584S | homozygous | 0.735 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-S2764L | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-V3094I | het unknown | 0.066 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-G3248D | het unknown | 0.140 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-E3471K | het unknown | 0.758 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-M3526T | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | 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 |
| 0.5 | GPR98-V5427M | homozygous | 0.972 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-V5876I | het unknown | 0.432 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.94 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | PCSK1-S690T | het unknown | 0.235 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.061 (benign), Testable gene in GeneTests |
| 0.5 | PCSK1-Q665E | het unknown | 0.247 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PCDHB6-V446A | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PCDHB6-H636Q | homozygous | 0.595 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.393 (possibly damaging) |
| 0.5 | PCDHB6-L684F | het unknown | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.985 (probably damaging) |
| 0.5 | PCDHB6-G776D | het unknown | 0.144 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HTR2C-C23S | homozygous | 0.233 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.004 (benign) |
| 0.5 | YIPF5-A76V | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | DDC-M17V | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EGFR-R521K | het unknown | 0.203 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | GSTM1-S210T | homozygous | 0.589 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | APC-D1714N | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 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 | COL11A1-S1547P | homozygous | 0.806 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL11A1-P1335L | het unknown | 0.448 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 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 | NR3C2-V180I | homozygous | 0.899 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ANXA9-M1V | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | ANXA9-D166G | homozygous | 0.123 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.992 (probably damaging) |
| 0.5 | EVC-Y258H | het unknown | 0.706 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests |
| 0.5 | EVC-T449K | het unknown | 0.852 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EVC-R576Q | homozygous | 0.309 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests |
| 0.5 | ETV3L-M318V | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.761 (possibly damaging) |
| 0.5 | ETV3L-G263A | het unknown | 0.167 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.759 (possibly damaging) |
| 0.5 | RHBG-G76D | het unknown | 0.372 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | RHBG-G315R | het unknown | 0.458 | 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 | HTT-Q625R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | HTT-T1720N | het unknown | 0.205 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HTT-Y2309H | het unknown | 0.466 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HTT-K2337R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | HTT-E2643Del | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CLCN2-T668S | homozygous | 0.594 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | POMZP3-L187Shift | homozygous | 0.435 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift |
| 0.5 | POMZP3-L8V | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown | |
| 0.5 | CPN2-Q509W | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | GAK-D787Y | het unknown | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.972 (probably damaging) |
| 0.5 | SEPT10-E156K | het unknown | 0.007 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.913 (probably damaging) |
| 0.5 | NFXL1-R432C | het unknown | 0.003 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | NFXL1-P246L | het unknown | 0.317 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | MANBA-V253I | homozygous | 0.383 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), 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 | ADH1B-H48R | homozygous | 0.963 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 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 | 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 | GBA-R140W | homozygous | 0.357 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | IL6R-P308L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | IL6R-D358A | homozygous | 0.316 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.911 (probably damaging) |
| 0.5 | BNIPL-R189H | het unknown | 0.018 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | CCDC158-R134Q | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | SPINK5-Q267R | het unknown | 0.490 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SPINK5-A335V | het unknown | 0.440 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SPINK5-S368N | het unknown | 0.428 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SPINK5-K420E | het unknown | 0.433 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SPINK5-R711Q | homozygous | 0.545 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | GFI1-S36N | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | PKHD1-Q4048R | homozygous | 0.524 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKHD1-Q3899R | homozygous | 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 | LDLRAP1-S202P | homozygous | 0.469 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.803 (possibly damaging), Testable gene in GeneTests |
| 0.5 | HSPG2-S4331N | het unknown | 0.147 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HSPG2-H3256Y | het unknown | 0.125 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HSPG2-R2977W | het unknown | 0.007 | 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 | KLC4-R90H | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | CUL7-A871V | het unknown | 0.020 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 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 | 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 | TULP1-K261N | homozygous | 0.844 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TULP1-T67R | homozygous | 0.905 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 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 | COL9A2-Q326R | homozygous | 0.281 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL9A2-T246M | het unknown | 0.025 | Unknown benign | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LCA5-D26A | het unknown | 0.149 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | 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 |
| 0.5 | MDN1-N5251K | het unknown | 0.098 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MDN1-I4720T | het unknown | 0.029 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.017 (benign) |
| 0.5 | MDN1-R4266G | het unknown | 0.026 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | MDN1-A4044S | het unknown | 0.526 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.035 (benign) |
| 0.5 | MDN1-H3423Y | het unknown | 0.513 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.986 (probably damaging) |
| 0.5 | MDN1-S1559N | homozygous | 0.820 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | KIAA0415-L375Q | het unknown | 0.049 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) |
| 0.5 | CLCNKA-R83G | het unknown | 0.600 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CLCNKA-Y315F | homozygous | 0.187 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CLCNKA-A447T | het unknown | 0.599 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CLCNKA-T454A | het unknown | 0.076 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CLCNKA-V457I | het unknown | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CLCNKA-P683L | het unknown | 0.100 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.927 (probably damaging), Testable gene in GeneTests |
| 0.5 | PLOD1-A99T | homozygous | 0.282 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PLOD1-A120S | het unknown | 0.151 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.01 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CLCNKB-A214G | homozygous | 0.638 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CLCNKB-A287V | homozygous | 0.811 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CLCNKB-I419V | het unknown | 0.129 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CLCNKB-M562T | homozygous | 0.889 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CLCNKB-K578E | homozygous | 0.704 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ENPP1-K173Q | het unknown | 0.357 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.15 (benign), Testable gene in GeneTests |
| 0.5 | ENPP1-R886T | het unknown | 0.005 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AIM1-Q293P | het unknown | 0.243 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | AIM1-E1196A | homozygous | 0.930 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.015 (benign) |
| 0.5 | AIM1-C1395Y | het unknown | 0.254 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.958 (probably damaging) |
| 0.5 | OPN1LW-S180A | homozygous | 0.126 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DSE-T25I | homozygous | 0.256 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.012 (benign) |
| 0.5 | DSE-P34L | het unknown | 0.050 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.953 (probably damaging) |
| 0.5 | GJA1-A253V | het unknown | 0.012 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | DNAH11-E34L | homozygous | 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-V3715L | het unknown | 0.603 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-M4172V | het unknown | 0.718 | 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 | HLA-DQA1-L8M | het unknown | 0.498 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 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-Q57E | het unknown | 0.265 | 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-R70K | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | HLA-DQA1-W71L | het unknown | 0.155 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-E73L | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | HLA-DQA1-S75H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | HLA-DQA1-KF76RL | het unknown | Unknown | 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-A92L | het unknown | 0.151 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 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-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 | F9-T194A | homozygous | 0.233 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.006 (benign), 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 | 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 | 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 | LEPR-K109R | het unknown | 0.231 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.026 (benign), Testable gene in GeneTests |
| 0.5 | LEPR-Q223R | homozygous | 0.486 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.484 (possibly damaging), Testable gene in GeneTests |
| 0.5 | SH3TC2-V1158I | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SH3TC2-A468S | het unknown | 0.241 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), 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 | TCOF1-A1353V | het unknown | 0.214 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TCOF1-G1394A | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GBP2-S303G | het unknown | 0.610 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | GBP2-P285A | het unknown | 0.610 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | GBP2-S281P | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | BC040901-C89W | het unknown | 0.706 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | BC040901-P93S | het unknown | 0.548 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | BC040901-A106Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | TXNDC3-C208R | homozygous | 0.787 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TXNDC3-I493T | het unknown | 0.007 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.074 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DEM1-L151P | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.948 (probably damaging) |
| 0.5 | DEM1-G172V | het unknown | 0.464 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HSPA1L-T493M | homozygous | 0.873 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | HOXA1-R73H | homozygous | 0.728 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 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-R1255H | het unknown | 0.089 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TNXB-H1161R | het unknown | 0.477 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TNXB-T302A | het unknown | 0.076 | 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 | HLA-H-D29A | het unknown | 0.071 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-H-P32Q | het unknown | 0.060 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-H-E34M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | HLA-H-Q61R | het unknown | 0.288 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-H-R100C | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-H-G109S | het unknown | 0.208 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-H-L145R | het unknown | 0.293 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-H-A147V | het unknown | 0.278 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-H-S182W | homozygous | 0.392 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-H-C238S | homozygous | 0.729 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SIRT5-E305G | het unknown | 0.038 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.861 (probably damaging) |
| 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-P152A | het unknown | 0.042 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | FAAH-P129T | homozygous | 0.256 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | TLR6-S249P | homozygous | 0.695 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TMPRSS3-A90T | het unknown | 0.035 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests |
| 0.5 | CHRNG-P506S | het unknown | 0.006 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.403 (possibly damaging), Testable gene in GeneTests |
| 0.5 | COL6A3-A3012P | het unknown | 0.835 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL6A3-D2831H | het unknown | 0.068 | Unknown benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL6A3-L411V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | DEFB126-Q55Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | DEFB126-P106Shift | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | ATP6V0A4-V2A | homozygous | 0.735 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | LYST-T1982I | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A4-S1400P | het unknown | 0.469 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A4-V1327M | het unknown | 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-G545A | het unknown | 0.036 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 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 | 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 | PRSS1-S181N | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | PRSS1-M183V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | PANK2-G126A | homozygous | 0.940 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 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 | NRIP1-R1135C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | NRIP1-R448G | het unknown | 0.075 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | SPATA17-Y105C | het unknown | 0.007 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.996 (probably damaging) |
| 0.5 | USH2A-E3411A | het unknown | 0.573 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-I2169T | het unknown | 0.481 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 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-I1665T | het unknown | 0.112 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.3 (possibly damaging), 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-D644V | het unknown | 0.059 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.137 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-A125T | homozygous | 0.719 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | EPRS-I1043V | het unknown | 0.077 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | EPRS-Y419C | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.946 (probably damaging) |
| 0.5 | EPRS-D308E | homozygous | 0.859 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SALL4-L507R | homozygous | 0.281 | Dominant not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.125 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABHD12-A349T | het unknown | 0.044 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.453 (possibly damaging) |
| 0.5 | CPNE1-A402Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | CPNE1-P347R | het unknown | 0.101 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.384 (possibly damaging) |
| 0.5 | CPNE1-Q211R | het unknown | 0.261 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CPNE1-R67H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | NR_002144-DDDFE68Del | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | NR_002144-SE75P | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | NR_002144-L77Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | NR_002144-Q280R | homozygous | 0.858 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NR_002144-Y307H | homozygous | 0.858 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NR_002144-L312R | homozygous | 0.856 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MCCC1-H464P | homozygous | 0.584 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 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 | homozygous | 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 | STK36-K295R | het unknown | 0.156 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.019 (benign) |
| 0.5 | STK36-R477W | het unknown | 0.042 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | STK36-R583Q | het unknown | 0.507 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.892 (probably damaging) |
| 0.5 | STK36-R1112Q | het unknown | 0.067 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.124 (benign) |
| 0.5 | XIRP2-P625A | het unknown | 0.181 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | XIRP2-Y632H | het unknown | 0.181 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | XIRP2-R1801H | het unknown | 0.162 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | XIRP2-R2242Q | het unknown | 0.164 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | XIRP2-L2598R | het unknown | 0.018 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.769 (possibly damaging) |
| 0.5 | XIRP2-V2782I | het unknown | 0.175 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | XIRP2-A3085T | het unknown | 0.162 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | XIRP2-I3197V | het unknown | 0.161 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | XIRP2-G3377E | het unknown | 0.018 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 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 | LRP2-I4210L | homozygous | 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 | SCN1A-A1056T | homozygous | 0.724 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 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-K2613N | homozygous | 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 | 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 | CFC1-W78R | homozygous | 0.966 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | LCT-N1639S | het unknown | 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 | LCT-V219I | het unknown | 0.273 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | DL492456-R148H | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | DL492456-Y109C | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | DL492456-W104* | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 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 | 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 | ABCA12-Q1895H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 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 | 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 | SFMBT2-P675R | het unknown | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.983 (probably damaging) |
| 0.5 | CPO-M85I | homozygous | 0.443 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.196 (benign), Testable gene in GeneTests |
| 0.5 | CPO-S134R | homozygous | 0.493 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | DNAH7-R3983W | het unknown | 0.007 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | DNAH7-L3319P | homozygous | 0.964 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DNAH7-M879I | het unknown | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.167 (benign) |
| 0.5 | DNAH7-R545C | homozygous | 0.525 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.02 (benign) |
| 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 | het unknown | 0.743 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CUBN-P389T | homozygous | 0.588 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CUBN-F253S | homozygous | 0.703 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 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 | OPTN-K322E | homozygous | 0.991 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MMP9-Q279R | homozygous | 0.346 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MMP9-R574P | homozygous | 0.918 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MMP9-R668Q | het unknown | 0.135 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | GGT1-G84S | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) | |
| 0.5 | ALG12-I393V | het unknown | 0.090 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.939 (probably damaging), 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 | PNPLA5-W286R | het unknown | 0.335 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.01 (benign) |
| 0.5 | PNPLA5-T218I | het unknown | 0.028 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.979 (probably damaging) |
| 0.5 | PNPLA5-T200I | het unknown | 0.029 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.004 (benign) |
| 0.5 | CSF2RB-P603T | het unknown | 0.026 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 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 | 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-L438V | het unknown | 0.375 | 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 | RHBDD3-W289* | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | ARSA-T391S | homozygous | 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 | IER5-V168I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | IER5-Q202R | homozygous | 0.980 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | IER5-P285S | het unknown | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | TOR1AIP1-M146T | het unknown | 0.564 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TOR1AIP1-P276R | het unknown | 0.535 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.982 (probably damaging) |
| 0.5 | TOR1AIP1-Q293H | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.874 (probably damaging) |
| 0.5 | CASR-E1011Q | homozygous | 0.916 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | DRD3-G9S | homozygous | 0.533 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | CPOX-V294I | het unknown | 0.070 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests |
| 0.5 | SCN5A-H558R | het unknown | 0.246 | Unknown pharmacogenetic | 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 | MINA-P201L | het unknown | 0.005 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 1.0 (probably damaging) |
| 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-Y2494H | homozygous | 0.996 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CYP3A7-R409T | homozygous | 0.762 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 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 | PCNT-T539I | homozygous | 0.118 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.009 (benign), Testable gene in GeneTests |
| 0.5 | PCNT-T879A | homozygous | 0.263 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.707 (possibly damaging), Testable gene in GeneTests |
| 0.5 | PCNT-R1163C | homozygous | 0.107 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests |
| 0.5 | PCNT-I1639V | homozygous | 0.318 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PCNT-Q2659H | homozygous | 0.481 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.849 (possibly damaging), Testable gene in GeneTests |
| 0.5 | PCNT-Q2792R | homozygous | 0.693 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.006 (benign), Testable gene in GeneTests |
| 0.5 | CR1L-R116G | homozygous | 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-N402D | het unknown | 0.206 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.999 (probably damaging) |
| 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 | RNF133-M1I | het unknown | 0.029 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.965 (probably damaging) |
| 0.375 | COL7A1-G636V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.375 | COL7A1-P595L | het unknown | 0.102 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | SARDH-M648V | het unknown | 0.519 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.375 | SARDH-R614H | het unknown | 0.327 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.057 (benign), Testable gene in GeneTests |
| 0.375 | SARDH-E372D | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.375 | COL18A1-A288T | het unknown | 0.250 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.017 (benign), Testable gene in GeneTests |
| 0.375 | COL18A1-T379M | het unknown | 0.355 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.969 (probably damaging), Testable gene in GeneTests |
| 0.375 | COL18A1-C408G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.375 | SPG11-F463S | het unknown | 0.480 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | SPG11-V270I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.375 | KRT1-K633R | het unknown | 0.220 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.375 | KRT1-S557G | het unknown | 0.223 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.375 | KRT1-G92S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.375 | MYO15A-A595T | het unknown | 0.338 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.375 | MYO15A-SW717RR | 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-Y2682F | het unknown | 0.344 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.375 | F13A1-E652Q | het unknown | 0.218 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.375 | F13A1-R612H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.375 | F13A1-P565L | het unknown | 0.193 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.375 | LAMB3-H1160R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.375 | LAMB3-M852L | het unknown | 0.120 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.526 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 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 | C10orf113-D100H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C10orf113-R62G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C10orf113-S22Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | CALHM1-L86P | het unknown | 0.798 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 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 | FMO2-F182S | het unknown | 0.123 | 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 | FMO2-E314G | het unknown | 0.082 | Unknown not reviewed | 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 | homozygous | 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-R1313S | het unknown | 0.562 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | DYNC2H1-K1413R | homozygous | 0.679 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.063 (benign), Testable gene in GeneTests |
| 0.25 | DYNC2H1-R2871Q | homozygous | 0.756 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | DYNC2H1-A2961T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | DYNC2H1-A3687V | het unknown | 0.301 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 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 | SLCO1B1-V174A | het unknown | 0.113 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | OR8U8-A9V | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | OR8U8-H20R | homozygous | 0.333 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | OR8U8-A51T | het unknown | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | OR8U8-T53E | het unknown | 0.258 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | OR8U8-S54K | het unknown | 0.275 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | OR8U8-V91Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | OR8U8-IS109TA | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | OR8U8-S112C | het unknown | 0.460 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | OR8U8-L131M | het unknown | 0.403 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | OR8U8-T137S | het unknown | 0.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | OR8U8-R165C | het unknown | 0.243 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.25 | OR8U8-F200L | het unknown | 0.387 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.01 (benign) |
| 0.25 | OR8U8-M206T | het unknown | 0.286 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.004 (benign) |
| 0.25 | OR8U8-S209C | het unknown | 0.290 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | OR8U8-L211V | het unknown | 0.406 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | OR8U8-S223F | het unknown | 0.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | OR8U8-H229S | het unknown | 0.063 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | OR8U8-G242S | het unknown | 0.163 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | OR8U8-A267S | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | OR8U8-T270A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | BAG3-C151R | het unknown | 0.149 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MST1P9-A301Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | MST1P9-H282R | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | RAG1-H249R | het unknown | 0.469 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | RET-G691S | het unknown | 0.156 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.16 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | ADRB1-G389R | het unknown | 0.681 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 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 | RNASEL-D541E | het unknown | 0.475 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | HYLS1-C31R | het unknown | 0.258 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests |
| 0.25 | C2CD3-R1219Q | het unknown | 0.377 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | C2CD3-T148Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 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 | GNPAT-D519G | het unknown | 0.168 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.025 (benign), Testable gene in GeneTests |
| 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 | 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 | ACADSB-R13K | het unknown | 0.281 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.08 (benign), Testable gene in GeneTests |
| 0.25 | H19-G355R | het unknown | 0.372 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | H19-V94I | het unknown | 0.361 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | H19-W38R | het unknown | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 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 | 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 | 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 | STIL-H985R | het unknown | 0.279 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.648 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | STIL-A86V | het unknown | 0.595 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 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 | 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 | 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 | NCF2-K181R | het unknown | 0.433 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 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 | LIPA-G23R | het unknown | 0.148 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 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 | DBT-S384G | het unknown | 0.858 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CFHR1-H157Y | het unknown | 0.305 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CFHR1-L159V | het unknown | 0.288 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CFHR1-E175Q | het unknown | 0.268 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | LOXHD1-A1406V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | LOXHD1-R1155G | het unknown | 0.792 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | CASP8-K14R | het unknown | 0.671 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | ABCB1-S893A | het unknown | 0.683 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ABCB1-S400N | het unknown | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | XPC-Q939K | het unknown | 0.643 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TMEM43-K168N | het unknown | 0.287 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.064 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | TMEM43-M179T | het unknown | 0.335 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | PPP6R2-V677Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | PPP6R2-R705K | homozygous | 0.226 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 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 | HGD-Q80H | het unknown | 0.745 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SLC2A2-T110I | het unknown | 0.240 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | TLR1-S602I | het unknown | 0.485 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | TLR1-N248S | het unknown | 0.434 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.25 | TLR1-R80T | het unknown | 0.065 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.008 (benign) |
| 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 | WFS1-V333I | het unknown | 0.800 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | 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 |
| 0.25 | DOK7-H113P | het unknown | 0.141 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | DOK7-R120Q | het unknown | 0.125 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | EIF2B5-I587V | het unknown | 0.328 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | CLDN16-R55Shift | het unknown | 0.172 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift, Testable gene in GeneTests |
| 0.25 | TRIOBP-S217N | het unknown | 0.544 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests |
| 0.25 | TRIOBP-Q398Del | het unknown | 0.308 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | TRIOBP-N863K | het unknown | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests |
| 0.25 | TRIOBP-F1187L | het unknown | 0.347 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests |
| 0.25 | TRIOBP-H1300R | homozygous | 0.624 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.006 (benign), Testable gene in GeneTests |
| 0.25 | TRIOBP-E1372D | het unknown | 0.222 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests |
| 0.25 | TRIOBP-W1377R | homozygous | 0.965 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.084 (benign), Testable gene in GeneTests |
| 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 | GDF5-S276A | het unknown | 0.359 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | RAB19-G63Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | RAB19-Y152H | homozygous | 0.195 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | COL4A3-G43R | het unknown | 0.353 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL4A3-L141P | het unknown | 0.774 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL4A3-E162G | het unknown | 0.774 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL4A3-D326Y | het unknown | 0.169 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | PFKM-R100Q | het unknown | 0.171 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.01 (benign), Testable gene in GeneTests |
| 0.25 | CPS1-T344A | het unknown | 0.597 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | PCK1-V184L | het unknown | 0.903 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | PCK1-E276K | het unknown | 0.146 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | KCNE1-S38G | het unknown | 0.658 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | CFTR-V470M | het unknown | 0.607 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL1A2-P549A | het unknown | 0.798 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | PRODH-R521Q | het unknown | 0.904 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 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 | CBR3-C4Y | het unknown | 0.368 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.25 | CBR3-V244M | het unknown | 0.400 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.014 (benign) |
| 0.25 | SLC19A1-H27R | het unknown | 0.504 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.25 | CWH43-P2T | het unknown | 0.355 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CWH43-L533Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | CWH43-H689N | het unknown | 0.568 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | UGT2B15-K523T | het unknown | 0.495 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | UGT2B15-Y85D | het unknown | 0.508 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 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 | 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 | MUT-R532H | het unknown | 0.313 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 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 | TRIM15-S324N | het unknown | 0.181 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CDSN-N527D | homozygous | 0.801 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CDSN-L410S | het unknown | 0.562 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CDSN-S401G | het unknown | 0.014 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | CDSN-S153Del | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | CDSN-N143S | homozygous | 0.787 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CDSN-M18L | het unknown | 0.188 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | COL9A1-S339P | het unknown | 0.479 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ELOVL4-M299V | het unknown | 0.150 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SOD2-V16A | het unknown | 0.476 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SLC22A2-S270A | het unknown | 0.881 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FNDC1-R14Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | FNDC1-E463Q | homozygous | 0.856 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.25 (possibly damaging) |
| 0.25 | FNDC1-Q1003E | homozygous | 0.854 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.25 (possibly damaging) |
| 0.25 | FNDC1-D1180E | homozygous | 0.856 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.47 (possibly damaging) |
| 0.25 | FNDC1-L1261P | homozygous | 0.852 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.38 (possibly damaging) |
| 0.25 | FNDC1-Q1280R | homozygous | 0.853 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.25 (possibly damaging) |
| 0.25 | FNDC1-T1504K | homozygous | 0.872 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 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 | WISP3-Q74H | het unknown | 0.335 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | 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 |
| 0.25 | RSPH4A-L589P | het unknown | 0.701 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 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 | ATXN1-P753S | het unknown | 0.146 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | WDR36-H212P | het unknown | 0.000 | Unknown benign | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests |
| 0.25 | WDR36-I264V | het unknown | 0.237 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 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 | VCAN-K1516R | het unknown | 0.499 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | 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 |
| 0.25 | VCAN-F2301Y | het unknown | 0.496 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | 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 |
| 0.25 | AP3B1-V585E | het unknown | 0.932 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 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 | GHR-I544L | het unknown | 0.435 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests |
| 0.25 | SLC22A4-I306T | het unknown | 0.658 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.25 | SLC22A4-L503F | het unknown | 0.304 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PCDHB10-T213R | het unknown | 0.124 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.885 (probably damaging) |
| 0.25 | PCDHB10-R543S | homozygous | 0.441 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PCDHB10-EA684Del | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | MSX2-M129T | het unknown | 0.753 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 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 | GLI3-P998L | het unknown | 0.252 | 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 | 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 | 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 | CTLA4-T17A | het unknown | 0.371 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 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 | SH2B1-T484A | het unknown | 0.343 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 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 | FANCI-A86V | het unknown | 0.283 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | FANCI-C742S | het unknown | 0.287 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 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 | ADAMTSL3-H146R | het unknown | 0.564 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.04 (benign) |
| 0.25 | ADAMTSL3-L290V | homozygous | 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 | ADAMTSL3-G713R | het unknown | 0.116 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.25 | ADAMTSL3-L869F | het unknown | 0.291 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.148 (benign) |
| 0.25 | ADAMTSL3-E893K | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.061 (benign) |
| 0.25 | ADAMTSL3-T1660I | het unknown | 0.192 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.25 | CD19-L174V | het unknown | 0.768 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SLC12A3-A264G | homozygous | 0.973 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SLC12A3-A728T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | NEUROD1-T45A | het unknown | 0.672 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | GFAP-D295N | het unknown | 0.033 | Unknown benign | Insufficiently evaluated | Prioritization score: 5 Polyphen 2: 0.942 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | GFAP-D157N | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.25 | EPPK1-R2215S | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | EPPK1-D2213M | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | EPPK1-M2211Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 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 | GCSH-S21L | het unknown | 0.751 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | LRRC50-L659V | het unknown | 0.157 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | CDAN1-R891C | het unknown | 0.270 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | CDAN1-Q596R | het unknown | 0.420 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CDAN1-Q107L | het unknown | 0.250 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, 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 | SH2B3-W262R | het unknown | 0.634 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MMAB-M239K | het unknown | 0.598 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | IKBKAP-P1158L | het unknown | 0.214 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | IKBKAP-C1072S | het unknown | 0.215 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | KRT83-H493Y | het unknown | 0.751 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | KRT83-I279M | het unknown | 0.409 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | KRT83-R149C | het unknown | 0.124 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | KRT6C-V481I | het unknown | 0.270 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ABCA1-K1587R | het unknown | 0.582 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | BAAT-R20Q | het unknown | 0.627 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.136 (benign), Testable gene in GeneTests |
| 0.25 | TRPM6-K1584E | het unknown | 0.237 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.854 (probably damaging), Testable gene in GeneTests |
| 0.25 | MTHFD1-K134R | homozygous | 0.831 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MTHFD1-R653Q | het unknown | 0.376 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.008 (benign) |
| 0.25 | TEP1-S1195P | het unknown | 0.618 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TEP1-R1055C | het unknown | 0.554 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CLN5-K368R | het unknown | 0.190 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | FREM2-S745P | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | FREM2-T2326I | het unknown | 0.726 | 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 | ERBB2-I655V | het unknown | 0.168 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.18 (benign) |
| 0.25 | ERBB2-P1170A | het unknown | 0.512 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.983 (probably damaging) |
| 0.25 | TDRD12-K413E | homozygous | 0.603 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | TDRD12-T748M | het unknown | 0.087 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.983 (probably damaging) |
| 0.25 | TDRD12-R1066* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | TDRD12-Q1117L | het unknown | 0.086 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | TDRD12-T1146M | het unknown | 0.085 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 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 | PLA2G4C-P298Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | PLA2G4C-S203P | het unknown | 0.492 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PLA2G4C-I143V | het unknown | 0.275 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ZNF224-M118V | het unknown | 0.872 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ZNF224-H162L | het unknown | 0.879 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.262 (possibly damaging) |
| 0.25 | ZNF224-K640E | het unknown | 0.713 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PRODH2-P91R | het unknown | 0.120 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.243 (possibly damaging), Testable gene in GeneTests |
| 0.25 | ADAM3A-G372S | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | ADAM3A-R356W | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | ADAM3A-L329Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | ADAM3A-R215G | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | NLRP7-V319I | het unknown | 0.298 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.25 | 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 |
| 0.25 | 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 | RAB3GAP1-N598S | het unknown | 0.115 | 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 | 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 | THADA-V699I | het unknown | 0.189 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.015 (benign) |
| 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 | SLC7A9-L223M | het unknown | 0.327 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests |
| 0.25 | SLC7A9-V142A | het unknown | 0.355 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | CNN2-P224L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | CNN2-R227Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | CNN2-K234R | het unknown | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.849 (possibly damaging) |
| 0.25 | CNN2-TD237IN | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 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 | RP1-R872H | het unknown | 0.235 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.25 | RP1-N985Y | het unknown | 0.349 | Unknown benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.958 (probably damaging), Testable gene in GeneTests |
| 0.25 | RP1-A1670T | het unknown | 0.204 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.25 | RP1-S1691P | het unknown | 0.248 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | RP1-C2033Y | het unknown | 0.314 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests |
| 0.25 | CNGB3-C234W | het unknown | 0.880 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 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 | RNF43-L418M | het unknown | 0.371 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.06 (benign) |
| 0.25 | RNF43-R343H | het unknown | 0.116 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.25 | RNF43-I47V | het unknown | 0.325 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.25 | SLC30A8-R325W | het unknown | 0.227 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 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 | CTDP1-T340M | het unknown | 0.129 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.006 (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 | NOTCH3-A2223V | het unknown | 0.730 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ATP8B3-VV1192LS | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | ATP8B3-S781Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | ATP8B3-FA775CG | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 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 | H6PD-R453Q | het unknown | 0.309 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.004 (benign) |
| 0 | WNT3-L105Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 0 | HFE-H63D | het unknown | 0.110 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0 | MEFV-R202Q | het unknown | 0.178 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.019 (benign), Testable gene in GeneTests with associated GeneReview |
| 0 | KCNC3-G81Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview |
Input file format: CGIVAR
Genome build: b37
Genome coverage: 2,782,264,698 bases (97.3% of callable positions, 90.3% of total positions)
Coding region coverage: 32,323,430 bases (97.1% of all genes, 97.7% 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