Variant report for huA0E089
- Data source: CGI sample GS01175-DNA_B04 from PGP sample 88590671
- This report: evidence.pgp-hms.org/genomes?dd3c8acffce076e238ca818bd04cb252d78b66e7
- Person ID: huA0E089
- public profile: my.pgp-hms.org/profile/huA0E089
- Download: source data, dbSNP and nsSNP report (123 MB)
- Processing status: processing
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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 | CBS-I278T | High | Likely | Likely pathogenic Recessive, Carrier (Heterozygous) | 0.00288158 | This recessive mutation causes homocystinuria in a recessive manner and is found in patients responsive to pyridoxine treatment. | 1 |
| 3 | C3-R102G | Moderate | Likely | Likely pathogenic Complex/Other, Heterozygous | 0.152073 | This variant (also called C3F) is common in Europeans (10.2% allele frequency), and is associated with age-related macular degeneration. In the US, 1.5% of adults over 40 have the disease, but the incidence increases strongly with age (>15% in women over 80). Assuming an average lifetime risk of ~10%, heterozygous individuals have a ~13% risk and homozygous have ~20%. | 1 |
| 4 | HABP2-G534E | Moderate | Likely | Likely pathogenic Unknown, Heterozygous | 0.0280721 | Known as the "Marburg I" polymorphism, this variant is associated with increased risk of coronary heart disease (CHD) in individuals with elevated cholesterol, triglyceride, and fibrinogen levels (5-fold risk of a CHD event, compared to 2-fold risk increase in people with the same risk factors but do not have this variant). In individuals without these elevated levels, however, carriers of the variant do not appear to have any increased risk of CHD. | 1 |
| 5 | SIAE-M89V | Moderate | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | 0.0400632 | This variant was reported to be associated with autoimmune disease when homozygous. However, a later publication has contradicted this result, finding no significant association between this variant and autoimmune disease in a very large cohort. | 1 |
| 6 | 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 |
| 7 | rs5186 | Low | Likely | Likely pathogenic Unknown, Heterozygous | 0.214878 | This common noncoding genetic variant has an allele frequency of ~30% and is associated with an increased risk of hypertension. If ~25% of non-carriers have hypertension, Bonnardeaux et al's data predict ~4% increased risk of hypertension per copy of this variant. This SNP is in the 3' noncoding region of the AGTR1 transcript (angiotensin II type 1 receptor), also known as AT2R1 or AT1R, which is a target of hypertension drugs. | 1 |
| 8 | 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 |
| 9 | HFE-H63D | Low | Uncertain | Uncertain pathogenic Recessive, Homozygous | 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 |
| 10 | RNASEL-R462Q | Low | Uncertain | Uncertain pathogenic Complex/Other, Heterozygous | 0.278026 | Associated with increased risk of prostate cancer in individuals who already have a family history of prostate cancer, but studies have been unable to replicate this finding in sporadic (non-familial) prostate cancer cases. | 1 |
| 11 | POLG-Q1236H | Low | Uncertain | Uncertain pathogenic Complex/Other, Homozygous | 0.0581893 | Generally a nonpathogenic polymorphism, but may have a modifier effect that increases severity when combined in cis with other pathogenic variants. | 1 |
| 12 | SP110-L425S | Low | Uncertain | Uncertain pathogenic Unknown, Homozygous | 0.863357 | This variant is associated with a slightly increased risk of tuberculosis. It is unclear whether it is itself causal, or in linkage disequilibrium with some other causal variant that has a stronger effect. | 1 |
| 13 | TP53-P72R | Low | Uncertain | Uncertain pathogenic Unknown, Heterozygous | 0.627743 | This is a common variant was first reported as a polymorphism. It has since had mixed associations with cancer: Storey et al. conclude a 7x *increased* risk of HPV cancer for homozygotes vs hets, but Jones et al. find a 1.98x *decreased* risk for colorectal cancer. This variant may have significant impact on particular cancers, but it is unclear what effect it has on the overall burden of cancer. | 1 |
| 14 | ACAD8-S171C | Low | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | 0.018312 | This variant (a.k.a S149C) was found as a compound heterozygote (with M130T) in a male newborn of European descent with isobutyryl-CoA dehydrogenase deficiency (identified by newborn screening). Lack of controls means that significance cannot be established and allele frequency cannot be estimated. Oglesbee et al. comment that IBD-deficiency may be relatively benign, most cases identified by newborn screening have remained asymptomatic, but Ferreira et al. report a symptomatic individual homozygous for this variant. | 1 |
| 15 | 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 |
| 16 | ERCC6-R1213G | Low | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | 0.196877 | When homozygous, this variant may cause Cockayne Syndrome, which is a severe autosomal-recessive disorder characterized by abnormal early growth and development, abnormal sensitivity to sunlight, and premature aging. Cockayne Syndrome Type I and Type II lead to death in early childhood. Several other variants in the ERCC6 gene are linked to Cockayne Syndrome. This variant may also be linked to age-related macular degeneration like other ERCC6 variants, and has been linked to colorectal cancer in one study. | 1 |
| 17 | rs1544410 | Low | Uncertain | Uncertain pharmacogenetic Unknown, Heterozygous | 0.351562 | rs1544410 is a Vitamin D Receptor (VDR) single nucleotide polymorphism. It is unlikely that it has functional significance because it is located in an intron (Liu et. al.), but it is in strong linkage disequilibrium with rs731236 (Dvornyk et al), which is located in an exon. | 1 |
| 18 | PRNP-M129V | Low | Well-established | Well-established protective Complex/Other, Heterozygous | 0.339561 | This variant is associated with some protective effects for prion disease -- individuals homozygous for this variant are less susceptible to Creutzfeldt-Jakob, and Papua New Guinea individuals heterozygotes at this site are less susceptible to kuru. | 1 |
| 19 | CCR5-S185Shift | Low | Well-established | Well-established protective Recessive, Carrier (Heterozygous) | 0.047619 | Also known as CCR5-delta32, this variant is associated with resistance to many strains of HIV (but not all strains, only strains that use target the CCR5 protein). Heterozygotes are reported to have slower HIV progression, and homozygotes are very resistant to being infected by these strains. | 1 |
| 20 | CASP10-V410I | Low | Likely | Likely protective Dominant, Heterozygous | 0.0474066 | Reported to have a protective effect on breast cancer. If the lifetime risk of breast cancer is 12%, women with this variant may have a lower risk of 8-9% (30% less than average). | 1 |
| 21 | KCNJ11-K23E | Low | Likely | Likely protective Unknown, Heterozygous | 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 |
| 22 | TOR1A-D216H | Low | Likely | Likely protective Unknown, Heterozygous | 0.102993 | This SNP has been shown to be benign and play a protective role against Dystonia. | 1 |
| 23 | LPL-S474X | Low | Uncertain | Uncertain protective Unknown, Heterozygous | 0.0844953 | This variant actually increases LPL enzyme activity despite creating a termination codon (see Rip J et al). It appears to be a protective variant, associated with lower triglyceride levels--although the effect is quite weak and explains only 0.5-1% of triglyceride variation. | 1 |
| 24 | 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 |
| 25 | ARSA-N350S | Low | Well-established | Well-established benign Unknown, Heterozygous | 0.183199 | This common variant (HapMap 24.1% allele frequency) causes a loss of a glycosylation site (affecting the size of the protein when studied with gel electrophoresis) but does not affect enzyme activity or stability. | 1 |
| 26 | PMS2-P470S | Low | Likely | Likely benign Unknown, Homozygous | 0.374884 | Benign, common variant. | 1 |
| 27 | CACNA1S-L458H | Low | Likely | Likely benign Unknown, Heterozygous | 0.27282 | Common polymorphism | 1 |
| 28 | 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 |
| 29 | CEP290-D664G | Low | Likely | Likely benign Unknown, Heterozygous | 0.00878754 | Reported as a non-pathogenic polymorphism, appears to be more common in East Asians. | 1 |
| 30 | LOXL1-R141L | Low | Uncertain | Uncertain benign Complex/Other, Heterozygous | 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 | APOB-Y1422C | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.999628 | This position is almost certainly an error in the HG18 reference sequence. | 1 |
| 32 | PHYH-P29S | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.155326 | Probably benign. This variant was implicated as causing Refsum Disease in a recessive manner, but a subsequent publication noted that all instances were linked with other explanatory mutations. The high allele frequency of this variant in the population (7-13%) contradicts a pathogenic hypothesis. | 1 |
| 33 | DSP-E1833V | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.00929541 | Reported to be benign with 1.5% allele frequency, although predicted to have damaging effect by Polyphen 2. | 1 |
| 34 | PKP2-L366P | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.221231 | This variant is a benign polymorphism. | 1 |
| 35 | RAPSN-R58C | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0778026 | Reported as non-pathogenic polymorphism. | 1 |
| 36 | RP1-N985Y | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.348671 | Probably benign. One report linked this variant to high triglycerides, but a later paper found a nearby SNP with similar association and suggests that both findings are caused by linkage to an undiscovered causal variant. | 1 |
| 37 | TPCN2-G734E | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.286166 | Pigmentation allele. | 1 |
| 38 | TYR-S192Y | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.270682 | This variant is reported to affect skin pigmentation. It is associated with lighter skin in South Asians (OR 4-5) and with a lack of freckles in Europeans (OR 1.3). | 1 |
| 39 | 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 |
| 40 | SPTA1-A970D | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0373134 | This variant, also called alpha-IIa, has been seen frequently in individuals with recessive Hereditary spherocytosis. This appears to be the result of linkage to alpha-LEPRA (a C>T substitution at position -99 of intron 30); A970D is later reported as functionally neutral. | 1 |
| 41 | PCSK9-G670E | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.888269 | This variant is likely benign. | 1 |
| Row number | Variant | Prioritization score | Allele freq | Num of articles | Zygosity and Prioritization Score Reasons | Sufficient |
|---|
Exome coverage: 32844148 / 33212919 = 98.89%
| Row number | Gene | Chromosome | Coverage | Missing | Length | Missing regions |
|---|---|---|---|---|---|---|
| 1 | AGRN | 1 | 0.95421961550994 | 281 | 6138 | 955553-955600, 955613-955623, 955636-955637, 955640-955641, 955646-955665, 955669, 955672, 976242-976243, 976247-976250, 976718-976727, 981890-981905, 981910, 981931, 981939, 981956-981958, 981969-981973, 981984-981985, 983603-983745, 986885-986892 |
| 2 | GABRD | 1 | 0.9654157468727 | 47 | 1359 | 1950864, 1950881-1950892, 1950897-1950930 |
| 3 | ESPN | 1 | 0.88927875243665 | 284 | 2565 | 6488301-6488336, 6488377-6488392, 6488426-6488432, 6500415-6500430, 6500688-6500700, 6500745-6500791, 6500829-6500868, 6501044, 6505726-6505732, 6505775-6505798, 6505849-6505862, 6505876, 6505914-6505937, 6508760-6508766, 6509017-6509039, 6512127-6512133, 6517289 |
| 4 | PLEKHG5 | 1 | 0.97052367513327 | 94 | 3189 | 6534124, 6534134, 6534144, 6534164-6534202, 6534211-6534224, 6534524, 6534556, 6534559, 6534573-6534605, 6557380-6557381 |
| 5 | KIF1B | 1 | 0.99924712968191 | 4 | 5313 | 10356997, 10425584-10425586 |
| 6 | TARDBP | 1 | 0.99437751004016 | 7 | 1245 | 11082356-11082362 |
| 7 | CLCNKA | 1 | 0.98498062015504 | 31 | 2064 | 16354391-16354397, 16356467, 16356470, 16356485, 16356985-16356991, 16358268-16358274, 16360141-16360147 |
| 8 | CLCNKB | 1 | 0.97529069767442 | 51 | 2064 | 16373044-16373085, 16378725, 16383398-16383405 |
| 9 | ATP13A2 | 1 | 0.9994355066328 | 2 | 3543 | 17322616-17322617 |
| 10 | HSPG2 | 1 | 0.99521857923497 | 63 | 13176 | 22263648-22263710 |
| 11 | WNT4 | 1 | 0.92329545454545 | 81 | 1056 | 22447958, 22447969-22447971, 22469339-22469415 |
| 12 | LDLRAP1 | 1 | 0.99568500539374 | 4 | 927 | 25870205-25870208 |
| 13 | SEPN1 | 1 | 0.89028776978417 | 183 | 1668 | 26126722-26126904 |
| 14 | KCNQ4 | 1 | 0.99568965517241 | 9 | 2088 | 41249766-41249772, 41284300-41284301 |
| 15 | CLDN19 | 1 | 0.97481481481481 | 17 | 675 | 43201567-43201580, 43201589-43201591 |
| 16 | DHCR24 | 1 | 0.99871050934881 | 2 | 1551 | 55352594-55352595 |
| 17 | PCSK9 | 1 | 0.98508898508899 | 31 | 2079 | 55505549-55505579 |
| 18 | ALG6 | 1 | 0.99934640522876 | 1 | 1530 | 63894700 |
| 19 | ACADM | 1 | 0.99921752738654 | 1 | 1278 | 76228445 |
| 20 | GLMN | 1 | 0.98767507002801 | 22 | 1785 | 92732017-92732038 |
| 21 | ABCA4 | 1 | 0.99824098504837 | 12 | 6822 | 94473845, 94497439-94497449 |
| 22 | DPYD | 1 | 0.97498375568551 | 77 | 3078 | 97847949-97848017, 98144700, 98144705, 98144719, 98348895-98348898, 98348909 |
| 23 | AGL | 1 | 0.99934768427919 | 3 | 4599 | 100336352, 100336360-100336361 |
| 24 | COL11A1 | 1 | 0.978009895547 | 120 | 5457 | 103352557-103352571, 103364222-103364283, 103412458, 103427732-103427735, 103427743, 103435775-103435778, 103435785-103435791, 103435801-103435805, 103435813-103435821, 103435824-103435825, 103470164-103470169, 103484374-103484377 |
| 25 | NOTCH2 | 1 | 0.98031283710895 | 146 | 7416 | 120539665-120539714, 120539742, 120539778-120539784, 120539912-120539919, 120539933-120539955, 120547962-120547968, 120548025, 120548030, 120548051, 120548055, 120548091-120548097, 120572544-120572576, 120572609-120572610, 120611964, 120612003-120612004, 120612006 |
| 26 | PRPF3 | 1 | 0.9995126705653 | 1 | 2052 | 150316971 |
| 27 | FLG | 1 | 0.93418677170524 | 802 | 12186 | 152276069-152276115, 152276235-152276241, 152276279-152276322, 152276365-152276389, 152276441-152276447, 152276487-152276529, 152276583, 152276616, 152276626-152276628, 152276671, 152276699, 152276758-152276785, 152276871, 152276889, 152276907, 152277014, 152277021, 152277027, 152277035, 152277044, 152277055, 152277168, 152277693-152277720, 152277881-152277887, 152278013-152278052, 152278179-152278204, 152278689, 152278811-152278817, 152278853-152278879, 152279016-152279022, 152279729, 152279743, 152279757-152279763, 152279838-152279844, 152280468-152280474, 152280556-152280576, 152280594-152280617, 152280682-152280694, 152280733-152280762, 152280782, 152280788, 152280900, 152281225-152281231, 152281287-152281307, 152281479, 152281523, 152281621-152281649, 152281745-152281774, 152281818-152281842, 152283407-152283433, 152283463-152283473, 152283925-152283978, 152284007-152284013, 152284149-152284181, 152284252-152284266, 152284546-152284552, 152284803-152284817, 152284958-152284992, 152285137, 152285227-152285233, 152286002 |
| 28 | GBA | 1 | 0.99565487274984 | 7 | 1611 | 155205040-155205046 |
| 29 | F5 | 1 | 0.99011235955056 | 66 | 6675 | 169510269-169510296, 169510351-169510370, 169510380, 169510502, 169510515, 169510524, 169510634-169510640, 169511618-169511624 |
| 30 | RNASEL | 1 | 0.99550763701707 | 10 | 2226 | 182555113-182555122 |
| 31 | PDC | 1 | 0.99865047233468 | 1 | 741 | 186418583 |
| 32 | CFH | 1 | 0.99621212121212 | 14 | 3696 | 196648807-196648808, 196658731-196658732, 196658738, 196706782-196706790 |
| 33 | CFHR5 | 1 | 0.99473684210526 | 9 | 1710 | 196953096-196953097, 196953142-196953144, 196953149, 196967347-196967349 |
| 34 | ASPM | 1 | 0.99817903009392 | 19 | 10434 | 197069715, 197069724-197069726, 197101420-197101426, 197101433-197101436, 197113131, 197113215, 197113229-197113230 |
| 35 | CACNA1S | 1 | 0.99768765563856 | 13 | 5622 | 201013545-201013557 |
| 36 | CD46 | 1 | 0.9875 | 15 | 1200 | 207940409-207940423 |
| 37 | USH2A | 1 | 0.99916714715869 | 13 | 15609 | 215916550, 215916555-215916558, 215916563, 215932077-215932083 |
| 38 | GJC2 | 1 | 0.90075757575758 | 131 | 1320 | 228345573-228345589, 228345613-228345615, 228345637-228345638, 228345646, 228345689-228345693, 228346339-228346341, 228346346-228346351, 228346354, 228346360-228346368, 228346376-228346377, 228346382-228346454, 228346477-228346480, 228346520, 228346533-228346536 |
| 39 | ACTA1 | 1 | 0.99911816578483 | 1 | 1134 | 229567917 |
| 40 | LYST | 1 | 0.99675609328424 | 37 | 11406 | 235875382, 235875491-235875497, 235897868-235897874, 235907452, 235907455, 235929577, 235944184, 235944237-235944240, 235964216-235964229 |
| 41 | MTR | 1 | 0.99921011058452 | 3 | 3798 | 237013719-237013720, 237038026 |
| 42 | RYR2 | 1 | 0.99751744498121 | 37 | 14904 | 237798272, 237821244-237821253, 237821293, 237824135, 237824189-237824208, 237824222, 237881762-237881764 |
| 43 | FH | 1 | 0.99934768427919 | 1 | 1533 | 241661131 |
| 44 | NLRP3 | 1 | 0.99646415943427 | 11 | 3111 | 247597405-247597415 |
| 45 | GATA3 | 10 | 0.99925093632959 | 1 | 1335 | 8100749 |
| 46 | DCLRE1C | 10 | 0.98941798941799 | 22 | 2079 | 14981847-14981868 |
| 47 | CUBN | 10 | 0.99935614422369 | 7 | 10872 | 17085968, 17085977-17085978, 17142034-17142037 |
| 48 | PTF1A | 10 | 0.98986828774063 | 10 | 987 | 23481656, 23481903-23481904, 23481907, 23481910-23481914, 23481920 |
| 49 | MYO3A | 10 | 0.99464028035457 | 26 | 4851 | 26385544-26385569 |
| 50 | PDSS1 | 10 | 0.96714743589744 | 41 | 1248 | 26994235-26994275 |
| 51 | RET | 10 | 0.98953662182362 | 35 | 3345 | 43572707-43572729, 43572738-43572744, 43572758, 43572761-43572762, 43572768-43572769 |
| 52 | ERCC6 | 10 | 0.99843819723338 | 7 | 4482 | 50679027-50679033 |
| 53 | CHAT | 10 | 0.92968402314197 | 158 | 2247 | 50822269, 50822280-50822436 |
| 54 | PCDH15 | 10 | 0.99932076753269 | 4 | 5889 | 55626421-55626422, 55826575, 56138648 |
| 55 | LDB3 | 10 | 0.99679487179487 | 7 | 2184 | 88476170-88476176 |
| 56 | BMPR1A | 10 | 0.99562226391495 | 7 | 1599 | 88683143-88683149 |
| 57 | GLUD1 | 10 | 0.99582587954681 | 7 | 1677 | 88836362-88836368 |
| 58 | ANKRD1 | 10 | 0.9875 | 12 | 960 | 92675970-92675981 |
| 59 | PAX2 | 10 | 0.99846035411855 | 2 | 1299 | 102566309, 102587415 |
| 60 | FBXW4 | 10 | 0.99757869249395 | 3 | 1239 | 103454358-103454360 |
| 61 | HPS6 | 10 | 0.99914089347079 | 2 | 2328 | 103825353-103825354 |
| 62 | SHOC2 | 10 | 0.99542595769011 | 8 | 1749 | 112764365-112764372 |
| 63 | HTRA1 | 10 | 0.93485793485793 | 94 | 1443 | 124221169-124221237, 124221248, 124221255-124221269, 124221311-124221312, 124221340, 124221389, 124221506, 124221509, 124221513, 124221517-124221518 |
| 64 | TALDO1 | 11 | 0.99802761341223 | 2 | 1014 | 763344-763345 |
| 65 | SLC25A22 | 11 | 0.98559670781893 | 14 | 972 | 792636-792637, 792642, 792647-792654, 792675-792676, 792682 |
| 66 | CTSD | 11 | 0.99596448748991 | 5 | 1239 | 1785070-1785073, 1785089 |
| 67 | TH | 11 | 0.99428571428571 | 9 | 1575 | 2191947-2191955 |
| 68 | CDKN1C | 11 | 0.85068349106204 | 142 | 951 | 2905926, 2905932, 2905937-2905960, 2905966-2905969, 2905973-2905974, 2906013-2906015, 2906027, 2906087-2906145, 2906148, 2906155-2906156, 2906159-2906172, 2906194, 2906197-2906204, 2906215-2906222, 2906227-2906231, 2906331, 2906382, 2906406-2906408, 2906439-2906441 |
| 69 | SMPD1 | 11 | 0.9873417721519 | 24 | 1896 | 6411935-6411941, 6412742-6412744, 6412749-6412756, 6412763-6412768 |
| 70 | SBF2 | 11 | 0.99351351351351 | 36 | 5550 | 10013982-10014017 |
| 71 | ABCC8 | 11 | 0.99936788874842 | 3 | 4746 | 17450154-17450156 |
| 72 | USH1C | 11 | 0.99851851851852 | 4 | 2700 | 17531167, 17531302, 17531309, 17531330 |
| 73 | ANO5 | 11 | 0.97848285922684 | 59 | 2742 | 22276990-22277019, 22277024-22277031, 22277041-22277046, 22277054-22277068 |
| 74 | PAX6 | 11 | 0.99527186761229 | 6 | 1269 | 31811482-31811487 |
| 75 | WT1 | 11 | 0.99485199485199 | 8 | 1554 | 32456817-32456823, 32456826 |
| 76 | SLC35C1 | 11 | 0.99905303030303 | 1 | 1056 | 45827805 |
| 77 | SERPING1 | 11 | 0.99933466400532 | 1 | 1503 | 57367503 |
| 78 | BEST1 | 11 | 0.99829351535836 | 3 | 1758 | 61723331-61723333 |
| 79 | BSCL2 | 11 | 0.99856011519078 | 2 | 1389 | 62472930-62472931 |
| 80 | SLC22A12 | 11 | 0.985559566787 | 24 | 1662 | 64367272-64367279, 64367285-64367300 |
| 81 | SPTBN2 | 11 | 0.9995817649519 | 3 | 7173 | 66460753-66460754, 66468003 |
| 82 | PC | 11 | 0.99971727452643 | 1 | 3537 | 66633679 |
| 83 | TCIRG1 | 11 | 0.99759326113117 | 6 | 2493 | 67816567-67816568, 67816579-67816582 |
| 84 | LRP5 | 11 | 0.98597359735974 | 68 | 4848 | 68080183-68080246, 68216461-68216464 |
| 85 | IGHMBP2 | 11 | 0.99832327297116 | 5 | 2982 | 68704532, 68704541-68704544 |
| 86 | MYO7A | 11 | 0.9998495788207 | 1 | 6648 | 76922282 |
| 87 | ALG8 | 11 | 0.99936748893106 | 1 | 1581 | 77815042 |
| 88 | DYNC2H1 | 11 | 0.99111626110467 | 115 | 12945 | 102984285, 102984309-102984323, 102984364, 102984373-102984374, 102988549, 103029406-103029407, 103029441, 103029468-103029469, 103029535, 103041641-103041649, 103043811-103043813, 103043825-103043843, 103043919, 103043999, 103044026, 103049782-103049789, 103052535-103052538, 103059226-103059227, 103059293, 103062922-103062923, 103070042-103070043, 103082518-103082519, 103082539-103082543, 103082546, 103082590, 103082649-103082658, 103082660-103082662, 103124172-103124177, 103128444-103128447, 103128451-103128453, 103187297 |
| 89 | ATM | 11 | 0.98822374877331 | 108 | 9171 | 108098379, 108098603, 108126993-108127067, 108196139, 108196180-108196182, 108196191, 108196194-108196198, 108196204-108196207, 108204664-108204680 |
| 90 | RDX | 11 | 0.99200913242009 | 14 | 1752 | 110108308, 110108311, 110126036-110126045, 110126055-110126056 |
| 91 | DLAT | 11 | 0.99382716049383 | 12 | 1944 | 111909989-111909997, 111910002, 111910012-111910013 |
| 92 | APOA1 | 11 | 0.99626865671642 | 3 | 804 | 116706798-116706800 |
| 93 | ROBO3 | 11 | 0.99615477048786 | 16 | 4161 | 124747464-124747479 |
| 94 | WNK1 | 12 | 0.99804168415163 | 14 | 7149 | 968493-968506 |
| 95 | CACNA2D4 | 12 | 0.99970708845929 | 1 | 3414 | 1902902 |
| 96 | CACNA1C | 12 | 0.99893308946807 | 7 | 6561 | 2794934-2794940 |
| 97 | VWF | 12 | 0.97630893153281 | 200 | 8442 | 6122647-6122650, 6125338-6125344, 6125722-6125728, 6127532-6127538, 6127637-6127661, 6127943, 6128064-6128070, 6128167-6128173, 6128297-6128303, 6128339-6128357, 6128443, 6128451, 6128476-6128508, 6131925-6131932, 6131955-6131982, 6132027-6132057, 6143864-6143870 |
| 98 | ATN1 | 12 | 0.98320738874895 | 60 | 3573 | 7045599-7045600, 7045603-7045604, 7045610, 7045888-7045942 |
| 99 | GYS2 | 12 | 0.99857954545455 | 3 | 2112 | 21712030, 21712033, 21712050 |
| 100 | ABCC9 | 12 | 0.99784946236559 | 10 | 4650 | 21998538-21998540, 21998551-21998552, 21998555, 21998558, 21998573, 22063813, 22063892 |
| 101 | KRAS | 12 | 0.99824561403509 | 1 | 570 | 25380204 |
| 102 | PKP2 | 12 | 0.99960222752586 | 1 | 2514 | 33049654 |
| 103 | KIF21A | 12 | 0.9997994384276 | 1 | 4986 | 39709036 |
| 104 | LRRK2 | 12 | 0.98971518987342 | 78 | 7584 | 40645034, 40646712-40646721, 40761462-40761463, 40761470, 40761475-40761538 |
| 105 | COL2A1 | 12 | 0.99977598566308 | 1 | 4464 | 48372461 |
| 106 | MLL2 | 12 | 0.99903695678344 | 16 | 16614 | 49424131, 49426716-49426729, 49427678 |
| 107 | AQP2 | 12 | 0.99509803921569 | 4 | 816 | 50344967-50344970 |
| 108 | ACVRL1 | 12 | 0.9973544973545 | 4 | 1512 | 52312868-52312871 |
| 109 | KRT81 | 12 | 0.9901185770751 | 15 | 1518 | 52682999-52683005, 52684950-52684956, 52685096 |
| 110 | KRT86 | 12 | 0.98562628336756 | 21 | 1461 | 52695851-52695857, 52695994-52696000, 52697949-52697955 |
| 111 | KRT6B | 12 | 0.90265486725664 | 165 | 1695 | 52841338-52841344, 52843578-52843584, 52843632-52843637, 52844243, 52844246, 52845365-52845403, 52845432-52845438, 52845528-52845534, 52845570-52845604, 52845662-52845686, 52845797-52845826 |
| 112 | KRT6C | 12 | 0.92035398230088 | 135 | 1695 | 52863210-52863216, 52865295-52865300, 52865900, 52865918, 52865925, 52867024-52867062, 52867094, 52867105, 52867187-52867193, 52867229-52867264, 52867321-52867346, 52867456-52867464 |
| 113 | KRT6A | 12 | 0.95398230088496 | 78 | 1695 | 52881868-52881874, 52884732-52884737, 52886553-52886559, 52886638-52886644, 52886708-52886714, 52886772-52886796, 52886907-52886925 |
| 114 | KRT5 | 12 | 0.99717992103779 | 5 | 1773 | 52908847-52908849, 52908860, 52908971 |
| 115 | KRT1 | 12 | 0.98552971576227 | 28 | 1935 | 53069223-53069243, 53072490-53072491, 53072512-53072513, 53072517-53072519 |
| 116 | ITGA7 | 12 | 0.99883245767659 | 4 | 3426 | 56078934-56078935, 56078938-56078939 |
| 117 | SUOX | 12 | 0.98962148962149 | 17 | 1638 | 56398164-56398180 |
| 118 | LEMD3 | 12 | 0.98940058479532 | 29 | 2736 | 65612335-65612339, 65612348-65612350, 65612356, 65612362-65612367, 65612373-65612377, 65612387-65612393, 65612396-65612397 |
| 119 | CEP290 | 12 | 0.98467741935484 | 114 | 7440 | 88462309-88462315, 88462332, 88471600, 88472954, 88472958-88472960, 88478583, 88490736, 88490769, 88496645, 88505472-88505473, 88505480-88505482, 88505497-88505500, 88505570-88505608, 88513961-88513963, 88513969, 88513972-88513978, 88513988-88514007, 88519070, 88519101-88519104, 88522733, 88522747, 88523591-88523601 |
| 120 | PAH | 12 | 0.99852832965416 | 2 | 1359 | 103234179, 103234182 |
| 121 | ATP2A2 | 12 | 0.99936081815276 | 2 | 3129 | 110764265-110764266 |
| 122 | ATXN2 | 12 | 0.96752917300863 | 128 | 3942 | 112036691-112036694, 112036697-112036701, 112036742, 112036757-112036768, 112036775-112036785, 112036791, 112036794, 112036797, 112036800-112036803, 112036916-112036965, 112036975, 112037026-112037062 |
| 123 | HNF1A | 12 | 0.9915611814346 | 16 | 1896 | 121434145-121434156, 121434366-121434369 |
| 124 | PUS1 | 12 | 0.99922118380062 | 1 | 1284 | 132426012 |
| 125 | SACS | 13 | 0.99949053857351 | 7 | 13740 | 23908620-23908622, 23908625-23908628 |
| 126 | CENPJ | 13 | 0.9982574060244 | 7 | 4017 | 25473705, 25480462-25480467 |
| 127 | BRCA2 | 13 | 0.99756264014819 | 25 | 10257 | 32921032-32921033, 32931935-32931944, 32953633-32953645 |
| 128 | SPG20 | 13 | 0.9960019990005 | 8 | 2001 | 36905623-36905630 |
| 129 | TNFSF11 | 13 | 0.9958071278826 | 4 | 954 | 43148531-43148533, 43148537 |
| 130 | RB1 | 13 | 0.9967707212056 | 9 | 2787 | 48934153-48934154, 48934162, 48941633-48941634, 48941637-48941640 |
| 131 | ZIC2 | 13 | 0.92120075046904 | 126 | 1599 | 100634396, 100635008-100635013, 100637713-100637714, 100637717-100637719, 100637729-100637732, 100637738, 100637746, 100637759-100637763, 100637776, 100637787-100637788, 100637801-100637877, 100637885, 100637889, 100637910-100637930 |
| 132 | PCCA | 13 | 0.99817101051669 | 4 | 2187 | 100764096, 100764136, 100915057, 100925542 |
| 133 | ERCC5 | 13 | 0.99787685774947 | 9 | 4239 | 103468807-103468815 |
| 134 | COL4A1 | 13 | 0.9998003992016 | 1 | 5010 | 110864248 |
| 135 | PABPN1 | 14 | 0.91965255157438 | 74 | 921 | 23790855-23790858, 23790873-23790874, 23790880-23790882, 23790885-23790894, 23790900-23790907, 23790909-23790922, 23790930-23790935, 23790955, 23790959-23790965, 23790983, 23790988-23790995, 23790997-23790998, 23791002-23791008, 23791014 |
| 136 | MYH6 | 14 | 0.99982817869416 | 1 | 5820 | 23855313 |
| 137 | MYH7 | 14 | 0.99672865013774 | 19 | 5808 | 23888387-23888405 |
| 138 | PCK2 | 14 | 0.99895995839834 | 2 | 1923 | 24568258-24568259 |
| 139 | TGM1 | 14 | 0.99877750611247 | 3 | 2454 | 24724268-24724270 |
| 140 | FOXG1 | 14 | 0.78503401360544 | 316 | 1470 | 29236620-29236650, 29236664-29236948 |
| 141 | NKX2-1 | 14 | 0.99502487562189 | 6 | 1206 | 36988377-36988379, 36988382-36988384 |
| 142 | FANCM | 14 | 0.98291849682772 | 105 | 6147 | 45623936-45623974, 45623996-45623998, 45624001, 45624012-45624025, 45628425, 45650679-45650691, 45650709-45650711, 45650714-45650719, 45653065-45653068, 45667850-45667862, 45667872-45667875, 45667933, 45669120-45669122 |
| 143 | C14orf104 | 14 | 0.99920445505171 | 2 | 2514 | 50101027, 50101563 |
| 144 | GCH1 | 14 | 0.99867197875166 | 1 | 753 | 55369229 |
| 145 | SYNE2 | 14 | 0.9978286045165 | 45 | 20724 | 64450599, 64461834-64461875, 64468782, 64556347 |
| 146 | EIF2B2 | 14 | 0.96969696969697 | 32 | 1056 | 75471504-75471535 |
| 147 | MLH3 | 14 | 0.99977074736359 | 1 | 4362 | 75506696 |
| 148 | FLVCR2 | 14 | 0.98861480075901 | 18 | 1581 | 76045497-76045514 |
| 149 | ESRRB | 14 | 0.99803536345776 | 3 | 1527 | 76964697-76964699 |
| 150 | GALC | 14 | 0.99951409135083 | 1 | 2058 | 88448553 |
| 151 | SPATA7 | 14 | 0.99166666666667 | 15 | 1800 | 88859737-88859749, 88859758, 88859792 |
| 152 | TTC8 | 14 | 0.99418604651163 | 9 | 1548 | 89305897, 89305901-89305902, 89305911, 89323619, 89343685-89343688 |
| 153 | ATXN3 | 14 | 0.97790055248619 | 24 | 1086 | 92559596-92559605, 92559608, 92559614, 92559643, 92559647-92559654, 92559658-92559660 |
| 154 | VRK1 | 14 | 0.99412258606213 | 7 | 1191 | 97304114, 97304136, 97304139-97304141, 97304152-97304153 |
| 155 | INF2 | 14 | 0.93333333333333 | 250 | 3750 | 105173863-105173874, 105173893, 105173909-105174124, 105174252, 105174320-105174339 |
| 156 | NIPA1 | 15 | 0.82020202020202 | 178 | 990 | 23086234-23086411 |
| 157 | UBE3A | 15 | 0.99467275494673 | 14 | 2628 | 25616251-25616257, 25616620-25616626 |
| 158 | SLC12A6 | 15 | 0.99971039675644 | 1 | 3453 | 34553130 |
| 159 | SPRED1 | 15 | 0.99700374531835 | 4 | 1335 | 38614490, 38614494, 38614497, 38614507 |
| 160 | CHST14 | 15 | 0.9973474801061 | 3 | 1131 | 40763454, 40763492, 40763524 |
| 161 | TTBK2 | 15 | 0.99946452476573 | 2 | 3735 | 43067843, 43120136 |
| 162 | STRC | 15 | 0.99211711711712 | 42 | 5328 | 43907810, 43910863-43910903 |
| 163 | STRC | 15 | 0.99948717948718 | 1 | 1950 | 44007272 |
| 164 | SPG11 | 15 | 0.99972722313148 | 2 | 7332 | 44912482, 44912601 |
| 165 | SLC12A1 | 15 | 0.99878787878788 | 4 | 3300 | 48595052-48595055 |
| 166 | FBN1 | 15 | 0.99988393686165 | 1 | 8616 | 48784747 |
| 167 | CEP152 | 15 | 0.99919436052367 | 4 | 4965 | 49036442-49036443, 49044657-49044658 |
| 168 | HCN4 | 15 | 0.97369878183832 | 95 | 3612 | 73614922-73614933, 73615126-73615142, 73659860-73659866, 73660090-73660126, 73660355-73660376 |
| 169 | FANCI | 15 | 0.99147228492601 | 34 | 3987 | 89804941-89804972, 89828367-89828368 |
| 170 | POLG | 15 | 0.99758064516129 | 9 | 3720 | 89876828-89876836 |
| 171 | MESP2 | 15 | 0.97654941373534 | 28 | 1194 | 90320121-90320146, 90320149, 90320161 |
| 172 | BLM | 15 | 0.99553361542078 | 19 | 4254 | 91337455-91337456, 91337466, 91337475, 91337517, 91337520-91337524, 91337586, 91358332-91358339 |
| 173 | VPS33B | 15 | 0.99946062567422 | 1 | 1854 | 91542262 |
| 174 | IGF1R | 15 | 0.99805068226121 | 8 | 4104 | 99467802-99467809 |
| 175 | HBZ | 16 | 0.91608391608392 | 36 | 429 | 203951, 204005-204037, 204317, 204347 |
| 176 | HBM | 16 | 0.99765258215962 | 1 | 426 | 216435 |
| 177 | GFER | 16 | 0.97734627831715 | 14 | 618 | 2034275-2034276, 2034321-2034326, 2034340-2034345 |
| 178 | PKD1 | 16 | 0.89776951672862 | 1320 | 12912 | 2140945-2140958, 2141004-2141007, 2141023-2141024, 2141094, 2147161-2147164, 2147192-2147196, 2147203, 2147768-2147781, 2147914-2147937, 2147969-2147985, 2149757-2149771, 2149873-2149921, 2150045-2150072, 2150245-2150284, 2150397, 2150470-2150476, 2150507-2150521, 2152126-2152132, 2152168-2152185, 2152249-2152257, 2152552-2152577, 2152605-2152623, 2152925, 2152949, 2153542-2153557, 2153711-2153741, 2153755-2153782, 2153820-2153854, 2154547-2154576, 2155395-2155429, 2155917-2155941, 2156018-2156025, 2156241-2156265, 2156399-2156404, 2156427-2156450, 2156480-2156500, 2156588-2156613, 2156899-2156941, 2158019-2158025, 2159341, 2159712-2159718, 2159993-2159999, 2160134-2160141, 2160329-2160335, 2160500-2160506, 2160679-2160690, 2160718-2160734, 2160809-2160815, 2161150-2161156, 2161197-2161203, 2161766-2161801, 2162882, 2163179-2163185, 2163266-2163293, 2164208-2164214, 2164351-2164377, 2164403-2164409, 2164443-2164466, 2164487-2164493, 2164532-2164539, 2164588-2164594, 2164805-2164838, 2164911-2164917, 2165392-2165398, 2165583-2165589, 2166564-2166595, 2166835-2166845, 2166880-2166923, 2167545-2167568, 2167598-2167638, 2167871-2167877, 2167969-2168000, 2168056-2168085, 2168209-2168237, 2168254-2168271, 2169115-2169139, 2185498, 2185561, 2185574-2185578, 2185582, 2185589-2185595, 2185662-2185690 |
| 179 | ABCA3 | 16 | 0.99960899315738 | 2 | 5115 | 2358588, 2358593 |
| 180 | SLX4 | 16 | 0.99927338782925 | 4 | 5505 | 3639451-3639454 |
| 181 | CREBBP | 16 | 0.99959066721244 | 3 | 7329 | 3779196, 3831240-3831241 |
| 182 | GLIS2 | 16 | 0.99238095238095 | 12 | 1575 | 4387044-4387047, 4387050-4387052, 4387055-4387059 |
| 183 | ALG1 | 16 | 0.92329749103943 | 107 | 1395 | 5128866-5128879, 5130959-5130999, 5131020-5131052, 5132603, 5132636, 5134813-5134821, 5134875-5134882 |
| 184 | ABCC6 | 16 | 0.97783687943262 | 100 | 4512 | 16297310, 16302585-16302589, 16306056-16306062, 16308210-16308235, 16313509-16313515, 16315576-16315597, 16315644-16315675 |
| 185 | OTOA | 16 | 0.99561403508772 | 15 | 3420 | 21742176-21742182, 21747697, 21768527-21768533 |
| 186 | OTOA | 16 | 0.9929718875502 | 7 | 996 | 22584667-22584673 |
| 187 | TUFM | 16 | 0.99926900584795 | 1 | 1368 | 28857424 |
| 188 | PHKG2 | 16 | 0.92219492219492 | 95 | 1221 | 30760142-30760236 |
| 189 | SLC5A2 | 16 | 0.99801882119861 | 4 | 2019 | 31500054-31500057 |
| 190 | CYLD | 16 | 0.99965059399022 | 1 | 2862 | 50785685 |
| 191 | SALL1 | 16 | 0.99194968553459 | 32 | 3975 | 51175643-51175655, 51175661, 51175665-51175670, 51175677-51175679, 51175692-51175700 |
| 192 | RPGRIP1L | 16 | 0.99873353596758 | 5 | 3948 | 53672263-53672266, 53672315 |
| 193 | HSD11B2 | 16 | 0.97536945812808 | 30 | 1218 | 67465194, 67465202-67465204, 67465209, 67465213-67465237 |
| 194 | CDH1 | 16 | 0.99962249905625 | 1 | 2649 | 68771345 |
| 195 | HP | 16 | 0.98116298116298 | 23 | 1221 | 72093014-72093036 |
| 196 | MLYCD | 16 | 0.95681511470985 | 64 | 1482 | 83932822, 83932837, 83932850-83932884, 83932908, 83932987-83932990, 83933085-83933106 |
| 197 | FOXF1 | 16 | 0.99649122807018 | 4 | 1140 | 86544211-86544214 |
| 198 | JPH3 | 16 | 0.99821984868714 | 4 | 2247 | 87723352-87723354, 87723357 |
| 199 | GALNS | 16 | 0.9987253027406 | 2 | 1569 | 88923263-88923264 |
| 200 | SPG7 | 16 | 0.98994974874372 | 24 | 2388 | 89574829-89574852 |
| 201 | FANCA | 16 | 0.99885531135531 | 5 | 4368 | 89805933-89805934, 89818628-89818630 |
| 202 | TUBB3 | 16 | 0.9970436067997 | 4 | 1353 | 90001766, 90001769, 90001791-90001792 |
| 203 | ASPA | 17 | 0.99363057324841 | 6 | 942 | 3384953-3384957, 3402352 |
| 204 | PITPNM3 | 17 | 0.99692307692308 | 9 | 2925 | 6358692-6358693, 6358698, 6358701, 6358706-6358707, 6358713-6358714, 6358719 |
| 205 | GUCY2D | 17 | 0.9987922705314 | 4 | 3312 | 7906373, 7906387-7906389 |
| 206 | HES7 | 17 | 0.99705014749263 | 2 | 678 | 8024998, 8025003 |
| 207 | COX10 | 17 | 0.97897897897898 | 28 | 1332 | 14095309, 14095345-14095371 |
| 208 | RAI1 | 17 | 0.99475616151023 | 30 | 5721 | 17697094-17697105, 17697112-17697124, 17698868-17698871, 17700893 |
| 209 | MYO15A | 17 | 0.99660152931181 | 36 | 10593 | 18024002, 18024016, 18024028-18024031, 18024037, 18049333-18049337, 18057089-18057109, 18057149, 18057167, 18070971 |
| 210 | UNC119 | 17 | 0.9820193637621 | 13 | 723 | 26879393, 26879396, 26879414-26879417, 26879440-26879445, 26879521 |
| 211 | NF1 | 17 | 0.99178403755869 | 70 | 8520 | 29422328-29422341, 29422357, 29548871-29548883, 29553534-29553540, 29586101-29586104, 29586107, 29586113-29586140, 29662033, 29665046 |
| 212 | KRT10 | 17 | 0.95555555555556 | 78 | 1755 | 38975205-38975261, 38975308-38975319, 38975328, 38978763-38978768, 38978780-38978781 |
| 213 | KRT14 | 17 | 0.99577167019027 | 6 | 1419 | 39741304-39741309 |
| 214 | KRT16 | 17 | 0.97116736990155 | 41 | 1422 | 39766195, 39766280-39766281, 39768412-39768418, 39768563-39768569, 39768748-39768771 |
| 215 | KRT17 | 17 | 0.95919938414165 | 53 | 1299 | 39775926-39775940, 39780516-39780522, 39780541-39780571 |
| 216 | STAT5B | 17 | 0.99407783417936 | 14 | 2364 | 40371359-40371371, 40371447 |
| 217 | GRN | 17 | 0.99887766554433 | 2 | 1782 | 42428800, 42429843 |
| 218 | PLEKHM1 | 17 | 0.99905392620624 | 3 | 3171 | 43522910, 43531484, 43552520 |
| 219 | ITGB3 | 17 | 0.99957752429235 | 1 | 2367 | 45331245 |
| 220 | NOG | 17 | 0.99856938483548 | 1 | 699 | 54672223 |
| 221 | TRIM37 | 17 | 0.9972366148532 | 8 | 2895 | 57105901-57105903, 57105907, 57105927, 57125079-57125080, 57125083 |
| 222 | BRIP1 | 17 | 0.99413333333333 | 22 | 3750 | 59793423-59793424, 59857622-59857629, 59926531-59926542 |
| 223 | ACE | 17 | 0.99872481509819 | 5 | 3921 | 61554485-61554489 |
| 224 | AXIN2 | 17 | 0.99842022116904 | 4 | 2532 | 63554542-63554545 |
| 225 | COG1 | 17 | 0.99966021066938 | 1 | 2943 | 71189326 |
| 226 | TSEN54 | 17 | 0.99493991144845 | 8 | 1581 | 73512848-73512855 |
| 227 | ITGB4 | 17 | 0.99872005851161 | 7 | 5469 | 73733691-73733693, 73733702-73733703, 73733707-73733708 |
| 228 | SEPT9 | 17 | 0.92277115275412 | 136 | 1761 | 75494605-75494740 |
| 229 | GAA | 17 | 0.99860090940888 | 4 | 2859 | 78078608-78078610, 78087079 |
| 230 | SGSH | 17 | 0.99933730947647 | 1 | 1509 | 78194055 |
| 231 | NPC1 | 18 | 0.99895751889497 | 4 | 3837 | 21115539-21115542 |
| 232 | LAMA3 | 18 | 0.999800039992 | 2 | 10002 | 21269660, 21483897 |
| 233 | DSC3 | 18 | 0.99739873652917 | 7 | 2691 | 28574304, 28576757-28576762 |
| 234 | DSC2 | 18 | 0.98928307464893 | 29 | 2706 | 28659821-28659849 |
| 235 | LOXHD1 | 18 | 0.99909584086799 | 6 | 6636 | 44126858, 44126866-44126869, 44126909 |
| 236 | MYO5B | 18 | 0.99080584099513 | 51 | 5547 | 47352944-47352980, 47363914-47363920, 47364149-47364155 |
| 237 | LMAN1 | 18 | 0.99804305283757 | 3 | 1533 | 57013281-57013283 |
| 238 | TNFRSF11A | 18 | 0.98973527822798 | 19 | 1851 | 59992597-59992604, 59992607-59992608, 59992614-59992617, 59992630-59992634 |
| 239 | CTDP1 | 18 | 0.9996534996535 | 1 | 2886 | 77440017 |
| 240 | ELANE | 19 | 0.89303482587065 | 86 | 804 | 853262-853289, 853299-853345, 853364-853373, 853386 |
| 241 | KISS1R | 19 | 0.98663324979114 | 16 | 1197 | 920290-920291, 920310-920311, 920323-920328, 920425-920429, 920670 |
| 242 | MAP2K2 | 19 | 0.92352452202826 | 92 | 1203 | 4123781-4123872 |
| 243 | C3 | 19 | 0.99839743589744 | 8 | 4992 | 6707087-6707089, 6707108-6707110, 6707113, 6707174 |
| 244 | STXBP2 | 19 | 0.99943883277217 | 1 | 1782 | 7706972 |
| 245 | ADAMTS10 | 19 | 0.99365942028986 | 21 | 3312 | 8649907, 8670094-8670100, 8670195-8670207 |
| 246 | PRKCSH | 19 | 0.99621928166352 | 6 | 1587 | 11558341-11558346 |
| 247 | CACNA1A | 19 | 0.9817843371892 | 137 | 7521 | 13318656-13318716, 13318805-13318812, 13318845-13318861, 13319690-13319726, 13409583-13409590, 13409602-13409607 |
| 248 | NOTCH3 | 19 | 0.98966408268734 | 72 | 6966 | 15271508-15271516, 15272199, 15281352-15281358, 15288660, 15288800-15288801, 15311631-15311673, 15311689-15311695, 15311702, 15311708 |
| 249 | JAK3 | 19 | 0.98725925925926 | 43 | 3375 | 17940956-17940997, 17950343 |
| 250 | SLC5A5 | 19 | 0.99896480331263 | 2 | 1932 | 17984977-17984978 |
| 251 | CEBPA | 19 | 0.91643454038997 | 90 | 1077 | 33792742-33792779, 33793004-33793030, 33793150-33793154, 33793167-33793176, 33793184-33793190, 33793203, 33793211, 33793242 |
| 252 | SCN1B | 19 | 0.95043370508055 | 40 | 807 | 35521725-35521764 |
| 253 | RYR1 | 19 | 0.99695706820136 | 46 | 15117 | 38931452-38931455, 39055779, 39055782-39055783, 39055810-39055812, 39055815-39055821, 39055834-39055840, 39055878-39055880, 39055882-39055888, 39055892, 39055903-39055910, 39055913, 39055923, 39055926 |
| 254 | PRX | 19 | 0.97492020063839 | 110 | 4386 | 40901098-40901119, 40901320-40901328, 40902609-40902615, 40909613-40909614, 40909664-40909667, 40909675-40909682, 40909698-40909700, 40909706-40909712, 40909722-40909769 |
| 255 | TGFB1 | 19 | 0.99914748508099 | 1 | 1173 | 41854322 |
| 256 | ATP1A3 | 19 | 0.99809679173464 | 7 | 3678 | 42471230-42471236 |
| 257 | BCAM | 19 | 0.99894011658718 | 2 | 1887 | 45321863-45321864 |
| 258 | ERCC2 | 19 | 0.99649583880859 | 8 | 2283 | 45867312-45867319 |
| 259 | OPA3 | 19 | 0.99079189686924 | 5 | 543 | 46087955-46087959 |
| 260 | SIX5 | 19 | 0.9972972972973 | 6 | 2220 | 46271847, 46271850, 46272081-46272084 |
| 261 | DMPK | 19 | 0.9968253968254 | 6 | 1890 | 46285498, 46285606-46285610 |
| 262 | FKRP | 19 | 0.99462365591398 | 8 | 1488 | 47259639, 47259649-47259652, 47259666-47259668 |
| 263 | DBP | 19 | 0.99897750511247 | 1 | 978 | 49138951 |
| 264 | KCNC3 | 19 | 0.85136323658751 | 338 | 2274 | 50823503-50823587, 50826401-50826413, 50826416, 50826419, 50826422-50826423, 50826426-50826430, 50826564, 50831520, 50831689-50831692, 50831694, 50831709-50831711, 50831717-50831721, 50831725-50831730, 50831894-50831899, 50831905, 50832012-50832034, 50832144-50832150, 50832152, 50832168-50832339 |
| 265 | PRKCG | 19 | 0.9756446991404 | 51 | 2094 | 54385841, 54393140-54393150, 54393177-54393185, 54393192-54393193, 54393206-54393214, 54393264, 54401315-54401322, 54403977-54403978, 54404001, 54410083-54410084, 54410089-54410093 |
| 266 | TNNT1 | 19 | 0.99873257287706 | 1 | 789 | 55652319 |
| 267 | KLF11 | 2 | 0.99610136452242 | 6 | 1539 | 10183860-10183862, 10183876, 10183884-10183885 |
| 268 | APOB | 2 | 0.9991966111598 | 11 | 13692 | 21227184-21227185, 21266775-21266783 |
| 269 | OTOF | 2 | 0.98481815148482 | 91 | 5994 | 26697410, 26699759-26699778, 26699791-26699848, 26699886-26699896, 26712608 |
| 270 | ALK | 2 | 0.99588731235863 | 20 | 4863 | 29443700, 29451750-29451761, 29451778-29451784 |
| 271 | SPAST | 2 | 0.93679092382496 | 117 | 1851 | 32289086-32289096, 32289109-32289142, 32289151-32289179, 32289194-32289206, 32289216-32289225, 32289227, 32289233-32289235, 32289302-32289309, 32312561, 32341236-32341242 |
| 272 | CYP1B1 | 2 | 0.99816176470588 | 3 | 1632 | 38302051, 38302177-38302178 |
| 273 | SOS1 | 2 | 0.99350324837581 | 26 | 4002 | 39224506-39224531 |
| 274 | LRPPRC | 2 | 0.99641577060932 | 15 | 4185 | 44115745-44115759 |
| 275 | EPCAM | 2 | 0.98518518518519 | 14 | 945 | 47606134-47606147 |
| 276 | MSH2 | 2 | 0.99964349376114 | 1 | 2805 | 47639554 |
| 277 | MSH6 | 2 | 0.99804065638011 | 8 | 4083 | 48010458, 48010474, 48010531, 48010534-48010537, 48032757 |
| 278 | LHCGR | 2 | 0.99761904761905 | 5 | 2100 | 48982785-48982789 |
| 279 | ATP6V1B1 | 2 | 0.99935149156939 | 1 | 1542 | 71163086 |
| 280 | ALMS1 | 2 | 0.9962412028151 | 47 | 12504 | 73613028-73613074 |
| 281 | DCTN1 | 2 | 0.9981756580662 | 7 | 3837 | 74598113, 74598120-74598125 |
| 282 | SUCLG1 | 2 | 0.98078770413064 | 20 | 1041 | 84668515-84668534 |
| 283 | REEP1 | 2 | 0.94719471947195 | 32 | 606 | 86564602-86564633 |
| 284 | EIF2AK3 | 2 | 0.99820948970457 | 6 | 3351 | 88926730-88926735 |
| 285 | ZAP70 | 2 | 0.99623655913978 | 7 | 1860 | 98340748-98340754 |
| 286 | RANBP2 | 2 | 0.92341085271318 | 741 | 9675 | 109345588-109345589, 109347317-109347341, 109347874-109347894, 109352037-109352055, 109352078-109352118, 109352606-109352612, 109357050-109357056, 109357110-109357116, 109365376, 109367754, 109367841-109367847, 109367868-109367895, 109368046-109368080, 109368104-109368110, 109368430-109368440, 109369543-109369554, 109370395-109370401, 109371361-109371377, 109371399, 109371495-109371531, 109371632-109371633, 109371656-109371662, 109374869-109374872, 109374901-109374918, 109382748-109382754, 109382787-109382793, 109382840-109382846, 109382889-109382895, 109382933-109382946, 109383052-109383058, 109383084-109383113, 109383137-109383148, 109383182-109383210, 109383262-109383274, 109383315-109383321, 109383354-109383360, 109383601-109383607, 109383672-109383721, 109383769-109383798, 109383822-109383828, 109383885-109383910, 109384003-109384010, 109384129-109384170, 109384199-109384205, 109384285-109384291, 109384542-109384567, 109384597-109384615, 109384628-109384667, 109397776 |
| 287 | MERTK | 2 | 0.99966666666667 | 1 | 3000 | 112656317 |
| 288 | GLI2 | 2 | 0.99747952110901 | 12 | 4761 | 121746173-121746177, 121746187, 121746193-121746196, 121746242, 121746382 |
| 289 | PROC | 2 | 0.998556998557 | 2 | 1386 | 128180718, 128180723 |
| 290 | CFC1 | 2 | 0.98660714285714 | 9 | 672 | 131280372, 131280809-131280816 |
| 291 | NEB | 2 | 0.99759687593872 | 48 | 19974 | 152362708-152362723, 152419279, 152432729, 152432762-152432768, 152432787-152432789, 152432792-152432805, 152432809, 152432816-152432820 |
| 292 | SCN2A | 2 | 0.99518112329678 | 29 | 6018 | 166167062-166167065, 166234107-166234131 |
| 293 | SCN9A | 2 | 0.99696663296259 | 18 | 5934 | 167060929-167060931, 167083164, 167083170, 167083185, 167089956-167089963, 167099108-167099111 |
| 294 | AGPS | 2 | 0.948406676783 | 102 | 1977 | 178346787-178346788, 178346800-178346886, 178346891-178346902, 178346913 |
| 295 | TTN | 2 | 0.99982044529567 | 18 | 100248 | 179523774-179523780, 179559403, 179591959-179591960, 179650756-179650763 |
| 296 | COL3A1 | 2 | 0.99545557827766 | 20 | 4401 | 189850440-189850441, 189850444, 189853368-189853369, 189854124, 189856215, 189856926-189856928, 189871663-189871670, 189871675, 189872663 |
| 297 | PMS1 | 2 | 0.96927474097892 | 86 | 2799 | 190718681-190718697, 190718754, 190718758-190718771, 190718778-190718808, 190728624-190728630, 190728864-190728879 |
| 298 | ALS2 | 2 | 0.99899477281866 | 5 | 4974 | 202626387-202626391 |
| 299 | NDUFS1 | 2 | 0.99954212454212 | 1 | 2184 | 207017156 |
| 300 | FASTKD2 | 2 | 0.99953117674637 | 1 | 2133 | 207652769 |
| 301 | ACADL | 2 | 0.99613302397525 | 5 | 1293 | 211053688, 211070497-211070500 |
| 302 | DES | 2 | 0.99716914366596 | 4 | 1413 | 220283709-220283712 |
| 303 | OBSL1 | 2 | 0.99402565454226 | 34 | 5691 | 220435627, 220435667-220435690, 220435736, 220435747-220435751, 220435952-220435954 |
| 304 | COL4A4 | 2 | 0.99763033175355 | 12 | 5064 | 227942705-227942715, 227968768 |
| 305 | UGT1A1 | 2 | 0.99375780274657 | 10 | 1602 | 234668951-234668959, 234668962 |
| 306 | AVP | 20 | 0.89494949494949 | 52 | 495 | 3063341, 3063627, 3063641-3063684, 3063763-3063766, 3063779, 3063796 |
| 307 | PANK2 | 20 | 0.9994162288383 | 1 | 1713 | 3870250 |
| 308 | C20orf7 | 20 | 0.9990366088632 | 1 | 1038 | 13782243 |
| 309 | CTSA | 20 | 0.99799599198397 | 3 | 1497 | 44520238-44520240 |
| 310 | SLC2A10 | 20 | 0.99938499384994 | 1 | 1626 | 45354406 |
| 311 | SALL4 | 20 | 0.99905123339658 | 3 | 3162 | 50418882-50418884 |
| 312 | SOX18 | 20 | 0.71688311688312 | 327 | 1155 | 62680256-62680258, 62680512-62680748, 62680780-62680781, 62680785-62680869 |
| 313 | APP | 21 | 0.99870298313878 | 3 | 2313 | 27394182-27394184 |
| 314 | IFNGR2 | 21 | 0.94280078895464 | 58 | 1014 | 34775850-34775853, 34775869-34775922 |
| 315 | RCAN1 | 21 | 0.99868247694335 | 1 | 759 | 35987245 |
| 316 | RUNX1 | 21 | 0.999306999307 | 1 | 1443 | 36164605 |
| 317 | TMPRSS3 | 21 | 0.9992673992674 | 1 | 1365 | 43810144 |
| 318 | AIRE | 21 | 0.9993894993895 | 1 | 1638 | 45713055 |
| 319 | ITGB2 | 21 | 0.9991341991342 | 2 | 2310 | 46308643, 46308655 |
| 320 | FTCD | 21 | 0.99815498154982 | 3 | 1626 | 47565746, 47565750, 47565756 |
| 321 | PCNT | 21 | 0.99980021975827 | 2 | 10011 | 47851842-47851843 |
| 322 | PEX26 | 22 | 0.98583877995643 | 13 | 918 | 18561223-18561232, 18561235-18561237 |
| 323 | PRODH | 22 | 0.98502495840266 | 27 | 1803 | 18904414, 18908872-18908897 |
| 324 | GP1BB | 22 | 0.92753623188406 | 45 | 621 | 19711382, 19711705-19711726, 19711736-19711751, 19711783-19711788 |
| 325 | TBX1 | 22 | 0.88306451612903 | 174 | 1488 | 19748428-19748599, 19748640, 19754316 |
| 326 | CHEK2 | 22 | 0.92788188529245 | 127 | 1761 | 29083906-29083916, 29083948-29083965, 29085137-29085171, 29090020-29090035, 29091139-29091160, 29091778-29091791, 29091834-29091844 |
| 327 | NF2 | 22 | 0.99608501118568 | 7 | 1788 | 30074303-30074309 |
| 328 | LARGE | 22 | 0.99955966534566 | 1 | 2271 | 33679204 |
| 329 | MYH9 | 22 | 0.99932007479177 | 4 | 5883 | 36688102-36688103, 36688110-36688111 |
| 330 | TRIOBP | 22 | 0.95618484080023 | 311 | 7098 | 38119846-38119862, 38119879-38119921, 38120003-38120009, 38120030-38120068, 38120140-38120159, 38120173-38120215, 38120297-38120306, 38120320-38120362, 38120394-38120453, 38120542, 38120683-38120710 |
| 331 | EP300 | 22 | 0.99820565907522 | 13 | 7245 | 41537106-41537118 |
| 332 | TNFRSF13C | 22 | 0.96036036036036 | 22 | 555 | 42322128, 42322238-42322246, 42322251, 42322276-42322278, 42322293-42322298, 42322301-42322302 |
| 333 | CYB5R3 | 22 | 0.98013245033113 | 18 | 906 | 43045304-43045321 |
| 334 | ALG12 | 22 | 0.9986366734833 | 2 | 1467 | 50297999, 50298005 |
| 335 | MLC1 | 22 | 0.97354497354497 | 30 | 1134 | 50502589-50502618 |
| 336 | TYMP | 22 | 0.99171842650104 | 12 | 1449 | 50964488-50964489, 50964502, 50964505-50964507, 50964518, 50964523, 50964549, 50964749-50964750, 50964814 |
| 337 | ARSA | 22 | 0.999343832021 | 1 | 1524 | 51063679 |
| 338 | SHANK3 | 22 | 0.86517925247902 | 707 | 5244 | 51113070-51113132, 51135951-51136143, 51158724-51158810, 51158816-51159054, 51159073-51159079, 51159084-51159091, 51159098-51159100, 51159106, 51159162-51159164, 51159202, 51159206-51159208, 51169213, 51169217, 51169258-51169260, 51169264-51169265, 51169274-51169280, 51169290-51169291, 51169295-51169298, 51169412, 51169437, 51169440-51169442, 51169502-51169503, 51169546-51169553, 51169556, 51169571-51169604, 51169620, 51169673, 51169676-51169690, 51169696-51169706, 51169720 |
| 339 | FANCD2 | 3 | 0.99320652173913 | 30 | 4416 | 10088296-10088311, 10088340-10088346, 10106529-10106535 |
| 340 | RAF1 | 3 | 0.99640472521828 | 7 | 1947 | 12660113-12660119 |
| 341 | COLQ | 3 | 0.99853801169591 | 2 | 1368 | 15563127-15563128 |
| 342 | COL7A1 | 3 | 0.99920769666101 | 7 | 8835 | 48625228-48625230, 48627061, 48627134-48627135, 48627138 |
| 343 | RFT1 | 3 | 0.98031980319803 | 32 | 1626 | 53156409-53156440 |
| 344 | ATXN7 | 3 | 0.88548273431994 | 325 | 2838 | 63898275-63898599 |
| 345 | MITF | 3 | 0.99936020473448 | 1 | 1563 | 69928285 |
| 346 | ROBO2 | 3 | 0.99903311578438 | 4 | 4137 | 77607104-77607107 |
| 347 | GBE1 | 3 | 0.95685158843054 | 91 | 2109 | 81698068-81698074, 81754675-81754758 |
| 348 | CHMP2B | 3 | 0.99376947040498 | 4 | 642 | 87299093-87299096 |
| 349 | PROS1 | 3 | 0.99901526341704 | 2 | 2031 | 93595992, 93596006 |
| 350 | ARL6 | 3 | 0.96969696969697 | 17 | 561 | 97503809-97503825 |
| 351 | HGD | 3 | 0.99925261584454 | 1 | 1338 | 120352100 |
| 352 | NPHP3 | 3 | 0.96568995742549 | 137 | 3993 | 132409387-132409390, 132416149, 132438549-132438674, 132441012-132441016, 132441086 |
| 353 | FOXL2 | 3 | 0.94076038903625 | 67 | 1131 | 138664797-138664806, 138664818-138664848, 138664866-138664876, 138664882-138664889, 138665041-138665047 |
| 354 | PLOD2 | 3 | 0.97321036451471 | 61 | 2277 | 145802956-145802972, 145804636-145804647, 145804660, 145804663-145804664, 145804667-145804695 |
| 355 | SLC2A2 | 3 | 0.99873015873016 | 2 | 1575 | 170716887-170716888 |
| 356 | SOX2 | 3 | 0.99895178197065 | 1 | 954 | 181430234 |
| 357 | ALG3 | 3 | 0.99848139711465 | 2 | 1317 | 183966660-183966661 |
| 358 | OPA1 | 3 | 0.99442257217848 | 17 | 3048 | 193355041-193355048, 193355058-193355065, 193377275 |
| 359 | PDE6B | 4 | 0.99883040935673 | 3 | 2565 | 651281-651283 |
| 360 | IDUA | 4 | 0.99490316004077 | 10 | 1962 | 980896, 996935, 996938, 996942-996945, 998107-998109 |
| 361 | FGFR3 | 4 | 0.99958796868562 | 1 | 2427 | 1808907 |
| 362 | HTT | 4 | 0.9931063739527 | 65 | 9429 | 3076608-3076615, 3076630-3076672, 3076675, 3076681-3076691, 3076721, 3138015 |
| 363 | DOK7 | 4 | 0.9953795379538 | 7 | 1515 | 3465233-3465234, 3465242, 3465245-3465248 |
| 364 | EVC | 4 | 0.99697885196375 | 9 | 2979 | 5713202-5713205, 5713238, 5713253, 5800423-5800425 |
| 365 | CC2D2A | 4 | 0.99958873123586 | 2 | 4863 | 15591227-15591228 |
| 366 | PROM1 | 4 | 0.99884526558891 | 3 | 2598 | 15981517, 15981520-15981521 |
| 367 | CNGA1 | 4 | 0.98815789473684 | 27 | 2280 | 47954600-47954615, 47954709, 47972979-47972987, 47973100 |
| 368 | SLC4A4 | 4 | 0.99147640791476 | 28 | 3285 | 72352699-72352726 |
| 369 | ALB | 4 | 0.99781420765027 | 4 | 1830 | 74272404-74272407 |
| 370 | CDS1 | 4 | 0.998556998557 | 2 | 1386 | 85560141-85560142 |
| 371 | PKD2 | 4 | 0.97832817337461 | 63 | 2907 | 88928898, 88928925-88928971, 88928997-88929011 |
| 372 | SNCA | 4 | 0.90780141843972 | 39 | 423 | 90749294-90749332 |
| 373 | CISD2 | 4 | 0.8921568627451 | 44 | 408 | 103808498-103808522, 103808569-103808587 |
| 374 | CFI | 4 | 0.99942922374429 | 1 | 1752 | 110723103 |
| 375 | BBS7 | 4 | 0.92877094972067 | 153 | 2148 | 122766679-122766682, 122766725, 122775859-122775865, 122775875-122775960, 122775963-122775972, 122782688-122782714, 122782741-122782753, 122782760-122782761, 122782765, 122782813, 122782826 |
| 376 | NR3C2 | 4 | 0.99763113367174 | 7 | 2955 | 149075973-149075979 |
| 377 | CTSO | 4 | 0.99482401656315 | 5 | 966 | 156863557-156863558, 156863570-156863572 |
| 378 | GLRB | 4 | 0.97255689424364 | 41 | 1494 | 158041708-158041740, 158041765-158041766, 158041777-158041782 |
| 379 | GK | 4 | 0.96389891696751 | 60 | 1662 | 166199162-166199168, 166199234-166199240, 166199358-166199364, 166199563-166199569, 166199603-166199609, 166200028, 166200039, 166200741-166200763 |
| 380 | F11 | 4 | 0.9989350372737 | 2 | 1878 | 187197412, 187197501 |
| 381 | SDHA | 5 | 0.90676691729323 | 186 | 1995 | 223682-223683, 224630-224636, 228300-228325, 236650-236684, 251108-251114, 251143-251179, 251465-251506, 254571-254577, 254606-254621, 256469-256475 |
| 382 | TERT | 5 | 0.99352750809061 | 22 | 3399 | 1294577-1294579, 1295065-1295068, 1295075-1295082, 1295088, 1295093-1295098 |
| 383 | SLC6A3 | 5 | 0.99946323134729 | 1 | 1863 | 1414883 |
| 384 | SDHA | 5 | 0.89296636085627 | 35 | 327 | 1593258-1593285, 1593383-1593389 |
| 385 | DNAH5 | 5 | 0.99740540540541 | 36 | 13875 | 13727748-13727765, 13751367-13751369, 13862741-13862742, 13916458, 13916466, 13916476, 13916479, 13916482, 13916510-13916517 |
| 386 | FAM134B | 5 | 0.99799196787149 | 3 | 1494 | 16616838, 16616848-16616849 |
| 387 | NIPBL | 5 | 0.97112299465241 | 243 | 8415 | 37036481-37036589, 37048604-37048727, 37048768-37048777 |
| 388 | LIFR | 5 | 0.98360655737705 | 54 | 3294 | 38482691-38482696, 38482713-38482750, 38482767-38482769, 38490382-38490385, 38506007-38506008, 38506019 |
| 389 | OXCT1 | 5 | 0.97824696097249 | 34 | 1563 | 41862796-41862797, 41862804-41862818, 41862825-41862831, 41862835-41862837, 41862846-41862852 |
| 390 | GHR | 5 | 0.99634846113719 | 7 | 1917 | 42718965-42718971 |
| 391 | MOCS2 | 5 | 0.99647266313933 | 2 | 567 | 52397237-52397238 |
| 392 | ERCC8 | 5 | 0.99412258606213 | 7 | 1191 | 60240774-60240780 |
| 393 | NDUFAF2 | 5 | 0.99411764705882 | 3 | 510 | 60394823, 60394826, 60448587 |
| 394 | SMN2 | 5 | 0.99435028248588 | 5 | 885 | 69362949, 69366510, 69366549-69366550, 69372374 |
| 395 | SMN2 | 5 | 0.9954802259887 | 4 | 885 | 70238373, 70241935, 70241974-70241975 |
| 396 | HEXB | 5 | 0.99521244763615 | 8 | 1671 | 73981097-73981098, 73981108-73981113 |
| 397 | AP3B1 | 5 | 0.97138508371385 | 94 | 3285 | 77311346-77311354, 77411972-77412018, 77471609, 77563344-77563348, 77563356-77563383, 77563411-77563414 |
| 398 | VCAN | 5 | 0.99980374840546 | 2 | 10191 | 82836218-82836219 |
| 399 | RASA1 | 5 | 0.97041984732824 | 93 | 3144 | 86633791, 86669980-86669983, 86670031-86670032, 86670038-86670039, 86670046-86670047, 86670050-86670057, 86670067-86670137, 86675578-86675580 |
| 400 | MEF2C | 5 | 0.9803094233474 | 28 | 1422 | 88024310-88024313, 88024345-88024346, 88024369-88024381, 88024437-88024445 |
| 401 | GPR98 | 5 | 0.99645896094287 | 67 | 18921 | 89914986, 89925043-89925051, 89940523-89940524, 89948265, 89971955-89971958, 90001288-90001290, 90007128-90007139, 90020649, 90020675, 90020678-90020680, 90049448-90049456, 90049468-90049479, 90049488, 90144476-90144478, 90144532-90144534, 90144603-90144604 |
| 402 | WDR36 | 5 | 0.99194677871148 | 23 | 2856 | 110436313-110436314, 110436330-110436331, 110436404-110436420, 110448773-110448774 |
| 403 | APC | 5 | 0.99871073605251 | 11 | 8532 | 112102932, 112102938-112102943, 112128154, 112128186-112128187, 112128205 |
| 404 | HSD17B4 | 5 | 0.99954771596563 | 1 | 2211 | 118835199 |
| 405 | FBN2 | 5 | 0.9991989930198 | 7 | 8739 | 127599336-127599339, 127645675, 127654602-127654603 |
| 406 | MYOT | 5 | 0.97929191716767 | 31 | 1497 | 137221782-137221784, 137221807-137221814, 137221859-137221863, 137221872-137221878, 137221883-137221890 |
| 407 | MATR3 | 5 | 0.99921383647799 | 2 | 2544 | 138651801-138651802 |
| 408 | DIAPH1 | 5 | 0.99685781618225 | 12 | 3819 | 140953427, 140953438, 140953473, 140953564-140953572 |
| 409 | SPINK5 | 5 | 0.99452054794521 | 18 | 3285 | 147499871-147499888 |
| 410 | IL12B | 5 | 0.99898682877406 | 1 | 987 | 158747405 |
| 411 | MSX2 | 5 | 0.99129353233831 | 7 | 804 | 174151763-174151769 |
| 412 | GRM6 | 5 | 0.97684130599848 | 61 | 2634 | 178421798-178421801, 178421812-178421858, 178421890-178421892, 178421936, 178421939-178421943, 178421945 |
| 413 | SQSTM1 | 5 | 0.99697656840514 | 4 | 1323 | 179247983, 179247986-179247988 |
| 414 | FLT4 | 5 | 0.99389051808407 | 25 | 4092 | 180076521-180076545 |
| 415 | FOXC1 | 6 | 0.98255114320096 | 29 | 1662 | 1611429, 1611632, 1611645-1611647, 1611650, 1611692, 1611698-1611701, 1611704-1611705, 1611810, 1612024-1612035, 1612041-1612042, 1612045 |
| 416 | TUBB2B | 6 | 0.99476831091181 | 7 | 1338 | 3225602-3225608 |
| 417 | F13A1 | 6 | 0.99363346975898 | 14 | 2199 | 6197467-6197480 |
| 418 | TFAP2A | 6 | 0.99086757990868 | 12 | 1314 | 10398678-10398689 |
| 419 | GCM2 | 6 | 0.99342537804076 | 10 | 1521 | 10877513-10877522 |
| 420 | DTNBP1 | 6 | 0.99526515151515 | 5 | 1056 | 15663096-15663100 |
| 421 | ATXN1 | 6 | 0.98937908496732 | 26 | 2448 | 16327859-16327862, 16327865, 16327870-16327872, 16327884, 16327887, 16327894, 16327896-16327900, 16327909, 16327915-16327918, 16327924, 16327927, 16327930, 16327938, 16327941 |
| 422 | TNXB | 6 | 0.92638672887506 | 142 | 1929 | 31976896-31976929, 31977388-31977394, 31977525-31977555, 31977994-31978002, 31978498-31978517, 31978782-31978815, 31979476-31979482 |
| 423 | CYP21A2 | 6 | 0.97177419354839 | 42 | 1488 | 32006211-32006234, 32006317, 32006337, 32006886, 32007325, 32008448-32008454, 32008901-32008907 |
| 424 | TNXB | 6 | 0.9961505224291 | 49 | 12729 | 32009648-32009664, 32010123-32010129, 32010269-32010275, 32010728-32010736, 32011235, 32011248, 32012330-32012336 |
| 425 | HLA-DQA1 | 6 | 0.88932291666667 | 85 | 768 | 32609130, 32609806, 32609949-32609977, 32610002, 32610008-32610009, 32610387-32610407, 32610419-32610424, 32610432-32610442, 32610445, 32610454, 32610461, 32610495, 32610499-32610500, 32610510-32610515, 32610535 |
| 426 | HLA-DQB1 | 6 | 0.78625954198473 | 168 | 786 | 32629124-32629173, 32629193-32629194, 32629199, 32629224-32629234, 32629755, 32629787-32629791, 32629889-32629891, 32632575-32632613, 32632687-32632688, 32632694-32632704, 32632724, 32632733-32632734, 32632739-32632745, 32632749-32632763, 32632778, 32632781-32632782, 32632785, 32632799-32632810, 32632820, 32634373 |
| 427 | COL11A2 | 6 | 0.99750527729802 | 13 | 5211 | 33138150, 33139834-33139845 |
| 428 | SYNGAP1 | 6 | 0.93824404761905 | 249 | 4032 | 33388042-33388108, 33393599-33393603, 33393616-33393618, 33393627-33393629, 33393631-33393680, 33405793, 33411505-33411528, 33411547, 33411550-33411552, 33411573-33411664 |
| 429 | MOCS1 | 6 | 0.9905808477237 | 18 | 1911 | 39874690-39874707 |
| 430 | CUL7 | 6 | 0.99646851088876 | 18 | 5097 | 43016196-43016213 |
| 431 | RUNX2 | 6 | 0.99361430395913 | 10 | 1566 | 45390450, 45390457, 45390463-45390469, 45390483 |
| 432 | MUT | 6 | 0.97691966267199 | 52 | 2253 | 49409563-49409571, 49409576, 49409581-49409616, 49409630-49409631, 49409654, 49421373-49421374, 49421452 |
| 433 | PKHD1 | 6 | 0.999918200409 | 1 | 12225 | 51611523 |
| 434 | EYS | 6 | 0.98071012188659 | 182 | 9435 | 65098612, 65300269-65300282, 65523332-65523333, 65523336, 65523342-65523404, 65596590-65596612, 65596618-65596659, 66005881, 66005884-66005889, 66005892-66005894, 66005897-66005917, 66063370, 66094304, 66094367, 66094376, 66115093 |
| 435 | LMBRD1 | 6 | 0.99260628465804 | 12 | 1623 | 70410658, 70410721-70410730, 70410761 |
| 436 | RIMS1 | 6 | 0.99527466036621 | 24 | 5079 | 73108759, 73108774-73108796 |
| 437 | LCA5 | 6 | 0.9937917860554 | 13 | 2094 | 80196721, 80196729-80196730, 80196820-80196829 |
| 438 | BCKDHB | 6 | 0.97370653095844 | 31 | 1179 | 80881007-80881021, 80881048, 80881070-80881077, 80881096-80881102 |
| 439 | SEC63 | 6 | 0.99868593955322 | 3 | 2283 | 108279174-108279176 |
| 440 | WISP3 | 6 | 0.9982126899017 | 2 | 1119 | 112389578, 112389582 |
| 441 | GJA1 | 6 | 0.96779808529156 | 37 | 1149 | 121768365, 121768436, 121768894-121768928 |
| 442 | LAMA2 | 6 | 0.99978639325003 | 2 | 9363 | 129513906-129513907 |
| 443 | ENPP1 | 6 | 0.99388048956084 | 17 | 2778 | 132129216, 132171184, 132203487-132203491, 132203512-132203515, 132203528-132203533 |
| 444 | EYA4 | 6 | 0.99895833333333 | 2 | 1920 | 133777765, 133783580 |
| 445 | PEX7 | 6 | 0.92181069958848 | 76 | 972 | 137143854, 137143862-137143864, 137167211-137167222, 137167231-137167262, 137167285-137167300, 137167308-137167319 |
| 446 | PEX3 | 6 | 0.9982174688057 | 2 | 1122 | 143792112, 143792214 |
| 447 | SYNE1 | 6 | 0.99996211260135 | 1 | 26394 | 152545791 |
| 448 | PARK2 | 6 | 0.99499284692418 | 7 | 1398 | 161969965-161969971 |
| 449 | TBP | 6 | 0.95294117647059 | 48 | 1020 | 170871031, 170871034, 170871038-170871040, 170871045-170871082, 170871096, 170871099, 170871131-170871133 |
| 450 | LFNG | 7 | 0.87982456140351 | 137 | 1140 | 2559496-2559552, 2559573-2559578, 2559601-2559619, 2559636-2559648, 2559671, 2559694-2559697, 2559706, 2559710, 2559745, 2559750, 2559753-2559754, 2559762-2559763, 2559778-2559784, 2559801, 2559832-2559852 |
| 451 | PMS2 | 7 | 0.98725376593279 | 33 | 2589 | 6042264-6042267, 6043641-6043669 |
| 452 | TWIST1 | 7 | 0.7504105090312 | 152 | 609 | 19156793-19156944 |
| 453 | DNAH11 | 7 | 0.99616858237548 | 52 | 13572 | 21630536-21630539, 21630550, 21630552-21630557, 21630572, 21630581-21630592, 21630612-21630615, 21630626-21630640, 21630920-21630928 |
| 454 | DFNA5 | 7 | 0.99932930918846 | 1 | 1491 | 24758795 |
| 455 | HOXA13 | 7 | 0.85004284490146 | 175 | 1167 | 27239082-27239094, 27239297-27239298, 27239301, 27239306-27239343, 27239349-27239350, 27239353-27239356, 27239379-27239435, 27239446-27239450, 27239456-27239465, 27239469-27239485, 27239540-27239548, 27239551-27239567 |
| 456 | RP9 | 7 | 0.98798798798799 | 8 | 666 | 33134883, 33135000-33135006 |
| 457 | BBS9 | 7 | 0.99286786786787 | 19 | 2664 | 33303937, 33303959-33303970, 33303981-33303986 |
| 458 | GLI3 | 7 | 0.99746995572423 | 12 | 4743 | 42005845-42005856 |
| 459 | GCK | 7 | 0.99571734475375 | 6 | 1401 | 44186092, 44186096-44186097, 44186100, 44186117, 44186124 |
| 460 | CCM2 | 7 | 0.97752808988764 | 30 | 1335 | 45039933-45039962 |
| 461 | KCTD7 | 7 | 0.99540229885057 | 4 | 870 | 66094167-66094170 |
| 462 | SBDS | 7 | 0.97609561752988 | 18 | 753 | 66456147-66456164 |
| 463 | NCF1 | 7 | 0.93333333333333 | 55 | 825 | 72637917, 72639957-72639989, 72640033-72640039, 72643704-72643710, 72644230-72644236 |
| 464 | ELN | 7 | 0.98758620689655 | 27 | 2175 | 73442536-73442561, 73466283 |
| 465 | NCF1 | 7 | 0.98806479113384 | 14 | 1173 | 74193665-74193671, 74197385-74197391 |
| 466 | HGF | 7 | 0.99954275262917 | 1 | 2187 | 81388120 |
| 467 | AKAP9 | 7 | 0.99684408051859 | 37 | 11724 | 91609615-91609618, 91609632, 91609638, 91625048-91625055, 91630249-91630268, 91714017, 91731937-91731938 |
| 468 | KRIT1 | 7 | 0.99954771596563 | 1 | 2211 | 91852152 |
| 469 | PEX1 | 7 | 0.99948078920042 | 2 | 3852 | 92116782, 92134173 |
| 470 | COL1A2 | 7 | 0.9968300414533 | 13 | 4101 | 94049921, 94058731-94058742 |
| 471 | SLC26A5 | 7 | 0.99284116331096 | 16 | 2235 | 103017290-103017292, 103019754-103019766 |
| 472 | CFTR | 7 | 0.95971190636957 | 179 | 4443 | 117188713-117188753, 117188760-117188800, 117188840-117188853, 117235012-117235016, 117235020-117235022, 117235036-117235044, 117235047-117235112 |
| 473 | AASS | 7 | 0.99820208558073 | 5 | 2781 | 121769575-121769576, 121769589-121769591 |
| 474 | IMPDH1 | 7 | 0.99888888888889 | 2 | 1800 | 128049888, 128049894 |
| 475 | FLNC | 7 | 0.99914404499878 | 7 | 8178 | 128498187-128498193 |
| 476 | ATP6V0A4 | 7 | 0.98810939357907 | 30 | 2523 | 138394369-138394397, 138394432 |
| 477 | BRAF | 7 | 0.99956540634507 | 1 | 2301 | 140453092 |
| 478 | PRSS1 | 7 | 0.83736559139785 | 121 | 744 | 142458411-142458454, 142459625-142459629, 142459664-142459682, 142459868-142459878, 142460313, 142460335, 142460339, 142460366-142460397, 142460798-142460804 |
| 479 | CNTNAP2 | 7 | 0.99574574574575 | 17 | 3996 | 145813984-145813988, 145813994-145813997, 147914478-147914485 |
| 480 | KCNH2 | 7 | 0.97959770114943 | 71 | 3480 | 150644707-150644708, 150644721-150644724, 150644742, 150644753, 150645564, 150648899, 150648907, 150671864-150671866, 150671872-150671899, 150671929, 150671955, 150671960-150671966, 150674975-150674994 |
| 481 | SHH | 7 | 0.98920086393089 | 15 | 1389 | 155595774, 155595777, 155595781-155595792, 155595803 |
| 482 | MNX1 | 7 | 0.83084577114428 | 204 | 1206 | 156798472-156798479, 156799289-156799296, 156802520-156802523, 156802530-156802536, 156802541, 156802648-156802793, 156802894-156802899, 156802903-156802905, 156802910-156802927, 156802933-156802935 |
| 483 | CLN8 | 8 | 0.99883855981417 | 1 | 861 | 1728686 |
| 484 | TUSC3 | 8 | 0.99235912129895 | 8 | 1047 | 15480650-15480657 |
| 485 | NEFL | 8 | 0.99938725490196 | 1 | 1632 | 24813423 |
| 486 | ADAM9 | 8 | 0.99959349593496 | 1 | 2460 | 38880687 |
| 487 | HGSNAT | 8 | 0.99528301886792 | 9 | 1908 | 42995701-42995708, 43054696 |
| 488 | TTPA | 8 | 0.98566308243728 | 12 | 837 | 63976802-63976813 |
| 489 | EYA1 | 8 | 0.9938167509837 | 11 | 1779 | 72156856-72156859, 72184043-72184045, 72246332-72246335 |
| 490 | CNGB3 | 8 | 0.99794238683128 | 5 | 2430 | 87656895-87656899 |
| 491 | TMEM67 | 8 | 0.99732262382865 | 8 | 2988 | 94777700-94777703, 94777809-94777812 |
| 492 | GDF6 | 8 | 0.99195906432749 | 11 | 1368 | 97157415-97157416, 97157419, 97157422, 97172914-97172920 |
| 493 | VPS13B | 8 | 0.99774887443722 | 27 | 11994 | 100050690-100050691, 100123410, 100123450, 100123453-100123457, 100123472-100123473, 100146872, 100168958-100168961, 100513969, 100513975-100513976, 100513986-100513992, 100514053 |
| 494 | KIAA0196 | 8 | 0.99942528735632 | 2 | 3480 | 126068927-126068928 |
| 495 | KCNQ3 | 8 | 0.99656357388316 | 9 | 2619 | 133492556, 133492764-133492766, 133492769-133492773 |
| 496 | TG | 8 | 0.99987961959793 | 1 | 8307 | 133882071 |
| 497 | CYP11B1 | 8 | 0.97156084656085 | 43 | 1512 | 143956536-143956542, 143957128-143957132, 143958572-143958602 |
| 498 | CYP11B2 | 8 | 0.98875661375661 | 17 | 1512 | 143993946-143993956, 143993963, 143994701-143994705 |
| 499 | PLEC | 8 | 0.9985770188545 | 20 | 14055 | 144993669-144993671, 144994990, 144996247-144996253, 144996260, 144996674-144996680, 144997891 |
| 500 | GPT | 8 | 0.99932930918846 | 1 | 1491 | 145730795 |
| 501 | DOCK8 | 9 | 0.99793650793651 | 13 | 6300 | 332398-332410 |
| 502 | GLIS3 | 9 | 0.99355531686359 | 18 | 2793 | 3856039-3856054, 4118047, 4118056 |
| 503 | JAK2 | 9 | 0.96969696969697 | 103 | 3399 | 5077453-5077540, 5077553-5077567 |
| 504 | GNE | 9 | 0.99867374005305 | 3 | 2262 | 36217448-36217450 |
| 505 | TRPM6 | 9 | 0.99769319492503 | 14 | 6069 | 77386716-77386729 |
| 506 | VPS13A | 9 | 0.97732283464567 | 216 | 9525 | 79820305, 79824351, 79824413, 79824431, 79843079, 79843111-79843143, 79843174-79843180, 79891018, 79891033, 79896783-79896842, 79897089-79897093, 79897100-79897101, 79897106, 79897180-79897190, 79908401-79908424, 79929026-79929030, 79931206-79931210, 79932533, 79932556-79932562, 79932570-79932582, 79932588-79932597, 79932605-79932614, 79933166, 79946956, 79946959, 79955131-79955136, 79959133, 79996915-79996917, 79996986, 79997003 |
| 507 | PTCH1 | 9 | 0.99976979742173 | 1 | 4344 | 98270643 |
| 508 | FOXE1 | 9 | 0.96880570409982 | 35 | 1122 | 100616698-100616730, 100616736-100616737 |
| 509 | TGFBR1 | 9 | 0.98611111111111 | 21 | 1512 | 101867534-101867543, 101867552-101867556, 101867559-101867563, 101867584 |
| 510 | INVS | 9 | 0.99968730456535 | 1 | 3198 | 103004961 |
| 511 | MUSK | 9 | 0.99540229885057 | 12 | 2610 | 113538927-113538935, 113562942-113562944 |
| 512 | LMX1B | 9 | 0.99910634495085 | 1 | 1119 | 129456056 |
| 513 | CEL | 9 | 0.87670629678556 | 280 | 2271 | 135946015, 135946675-135946681, 135946695-135946735, 135946741-135946966, 135946985, 135946989-135946992 |
| 514 | SURF1 | 9 | 0.97785160575858 | 20 | 903 | 136223276-136223295 |
| 515 | ADAMTS13 | 9 | 0.9906629318394 | 40 | 4284 | 136293782-136293807, 136293821-136293833, 136293879 |
| 516 | COL5A1 | 9 | 0.99383723037883 | 34 | 5517 | 137534055-137534057, 137534065, 137534092-137534121 |
| 517 | LHX3 | 9 | 0.95285359801489 | 57 | 1209 | 139090801, 139090853-139090893, 139090904-139090905, 139094833-139094842, 139094845-139094846, 139094852 |
| 518 | INPP5E | 9 | 0.9937984496124 | 12 | 1935 | 139326276-139326280, 139333154, 139333322, 139333333, 139333336-139333339 |
| 519 | NOTCH1 | 9 | 0.99960876369327 | 3 | 7668 | 139440216-139440218 |
| 520 | AGPAT2 | 9 | 0.98566308243728 | 12 | 837 | 139581739, 139581742-139581747, 139581751, 139581762-139581764, 139581773 |
| 521 | SLC34A3 | 9 | 0.98555555555556 | 26 | 1800 | 140128315-140128319, 140128323-140128327, 140128337, 140128343-140128344, 140128348-140128349, 140128353-140128356, 140128365-140128369, 140128647, 140130748 |
| 522 | CSF2RA | X | 0.9992337164751 | 1 | 1305 | 1422180 |
| 523 | GPR143 | X | 0.99921568627451 | 1 | 1275 | 9707634 |
| 524 | FANCB | X | 0.98488372093023 | 39 | 2580 | 14861798-14861809, 14877350-14877352, 14877355-14877376, 14883335-14883336 |
| 525 | RPS6KA3 | X | 0.99955015744489 | 1 | 2223 | 20213188 |
| 526 | SMS | X | 0.99909173478656 | 1 | 1101 | 21958953 |
| 527 | ARX | X | 0.9384251036116 | 104 | 1689 | 25025356-25025368, 25031298, 25031301, 25031381-25031385, 25031643-25031683, 25031699-25031720, 25031770, 25031785-25031791, 25031794, 25031797-25031807, 25031812 |
| 528 | DMD | X | 0.99801049014288 | 22 | 11058 | 31893413-31893426, 32398653, 32398706-32398707, 32398715-32398718, 32404441 |
| 529 | RPGR | X | 0.89852558542931 | 351 | 3459 | 38145324-38145379, 38145385-38145396, 38145404-38145456, 38145462-38145684, 38163961-38163967 |
| 530 | BCOR | X | 0.99905087319666 | 5 | 5268 | 39932093-39932097 |
| 531 | ATP6AP2 | X | 0.997150997151 | 3 | 1053 | 40460084-40460086 |
| 532 | NYX | X | 0.99723374827109 | 4 | 1446 | 41333243, 41333278-41333279, 41333927 |
| 533 | SYN1 | X | 0.99952785646837 | 1 | 2118 | 47478804 |
| 534 | CFP | X | 0.99858156028369 | 2 | 1410 | 47485727-47485728 |
| 535 | WAS | X | 0.99602385685885 | 6 | 1509 | 48547210-48547212, 48547234-48547236 |
| 536 | HSD17B10 | X | 0.99745547073791 | 2 | 786 | 53458527, 53458539 |
| 537 | ALAS2 | X | 0.99263038548753 | 13 | 1764 | 55047673-55047685 |
| 538 | AR | X | 0.95512124502353 | 124 | 2763 | 66765159-66765242, 66765248, 66766365-66766371, 66766374, 66766378-66766398, 66766401, 66766404, 66766407-66766414 |
| 539 | MED12 | X | 0.98132843587389 | 122 | 6534 | 70338628-70338661, 70338678, 70338696, 70352026-70352029, 70356293-70356313, 70360617, 70360635, 70360645-70360647, 70360657-70360661, 70361100, 70361111-70361113, 70361166-70361212 |
| 540 | TAF1 | X | 0.98328053502288 | 95 | 5682 | 70586165-70586257, 70586266, 70607140 |
| 541 | BRWD3 | X | 0.98853762248105 | 62 | 5409 | 79947622-79947625, 79947630-79947635, 79947649, 79991504-79991507, 79991512-79991519, 79991533-79991534, 79991569-79991579, 79991582-79991583, 80064947-80064970 |
| 542 | ZNF711 | X | 0.99956255468066 | 1 | 2286 | 84520254 |
| 543 | PCDH19 | X | 0.99969751966122 | 1 | 3306 | 99663562 |
| 544 | COL4A5 | X | 0.9992091735864 | 4 | 5058 | 107834419-107834422 |
| 545 | XIAP | X | 0.99799196787149 | 3 | 1494 | 123019744-123019745, 123025111 |
| 546 | ZIC3 | X | 0.99501424501425 | 7 | 1404 | 136648985-136648990, 136651143 |
| 547 | SOX3 | X | 0.99776286353468 | 3 | 1341 | 139586501-139586503 |
| 548 | SLC6A8 | X | 0.88102725366876 | 227 | 1908 | 152954079-152954082, 152954095-152954209, 152954216-152954247, 152957463-152957478, 152958538-152958546, 152959470-152959472, 152959629-152959651, 152959687-152959704, 152960547-152960553 |
| 549 | ABCD1 | X | 0.93297587131367 | 150 | 2238 | 153008473-153008487, 153008504-153008525, 153008675-153008688, 153008705-153008734, 153008785-153008791, 153009079-153009120, 153009137-153009156 |
| 550 | AVPR2 | X | 0.99372759856631 | 7 | 1116 | 153172060-153172066 |
| 551 | MECP2 | X | 0.95858383433534 | 62 | 1497 | 153363061-153363122 |
| 552 | OPN1LW | X | 0.95068493150685 | 54 | 1095 | 153418460, 153418519-153418544, 153420176, 153421799-153421824 |
| 553 | OPN1MW | X | 0.94155251141553 | 64 | 1095 | 153455649-153455654, 153458929-153458954, 153458979-153459010 |
| 554 | OPN1MW | X | 0.9041095890411 | 105 | 1095 | 153492767-153492772, 153496047-153496072, 153496097-153496124, 153496157-153496201 |
| Effect rank | Variant | Phase/ Zygosity | Allele freq | Impact | Evaluation | Summary / Info |
|---|---|---|---|---|---|---|
| 5 | HFE-H63D | homozygous | 0.086 | Recessive pathogenic | Low clinical importance, uncertain | There have been some hypotheses that this variant contributes to causing hereditary hemachromatosis, 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. |
| 5 | POLG-Q1236H | homozygous | 0.031 | Complex/Other pathogenic | Low clinical importance, uncertain | Generally a nonpathogenic polymorphism, but may have a modifier effect that increases severity when combined in cis with other pathogenic variants. |
| 3 | CASP10-V410I | het unknown | 0.031 | Dominant protective | Low clinical importance, likely | Reported to have a protective effect on breast cancer. If the lifetime risk of breast cancer is 12%, women with this variant may have a lower risk of 8-9% (30% less than average). |
| 3 | CASP10-L522I | homozygous | 0.309 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2.5 | HABP2-G534E | het unknown | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 5 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests | |
| 2.5 | C3-P314L | het unknown | 0.079 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.159 (benign), Testable gene in GeneTests with associated GeneReview |
| 2.5 | C3-R102G | het unknown | 0.053 | Complex/Other pathogenic | Moderate clinical importance, likely | This variant (also called C3F) is common in Europeans (10.2% allele frequency), and is associated with age-related macular degeneration. In the US, 1.5% of adults over 40 have the disease, but the incidence increases strongly with age (>15% in women over 80). Assuming an average lifetime risk of ~10%, heterozygous individuals have a ~13% risk and homozygous have ~20%. |
| 2.5 | COL4A1-Q1334H | het unknown | 0.292 | Dominant pathogenic | Low clinical importance, likely | 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%. |
| 2.5 | COL4A1-T555P | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2.5 | SP110-M523T | het unknown | 0.319 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2.5 | SP110-L425S | homozygous | 0.875 | Unknown pathogenic | Low clinical importance, uncertain | 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. |
| 2.5 | SP110-G299R | homozygous | 0.822 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2.5 | SP110-E207K | het unknown | 0.087 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2.5 | SP110-A206V | het unknown | 0.142 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2.5 | SP110-A128V | het unknown | 0.078 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2.5 | SP110-W112R | homozygous | 0.945 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | NEFL-S472Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 2 | CILP-G1166S | het unknown | 0.766 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 2 | CILP-Q979R | homozygous | 0.986 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 2 | CILP-K575E | homozygous | 0.974 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 2 | CILP-I395T | homozygous | 0.491 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 2 | CHRNA5-V134I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 2 | CHRNA5-D398N | homozygous | 0.158 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign) |
| 2 | CYP2A6-F392Y | homozygous | 0.969 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 2 | CYP2A6-L160H | het unknown | 0.017 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.045 (benign) |
| 2 | CYP2A6-S29N | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.024 (benign) |
| 2 | MEFV-R202Q | homozygous | 0.111 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.019 (benign), Testable gene in GeneTests with associated GeneReview |
| 1.5 | LPL-S474* | het unknown | 0.096 | Unknown protective | Low clinical importance, uncertain | This variant actually increases LPL enzyme activity despite creating a termination codon (see Rip J et al). It appears to be a protective variant, associated with lower triglyceride levels--although the effect is quite weak and explains only 0.5-1% of triglyceride variation. |
| 1.5 | LOXL1-R141L | het unknown | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.998 (probably damaging) | |
| 1.25 | RNASEL-D541E | het unknown | 0.470 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1.25 | RNASEL-R462Q | het unknown | 0.208 | Complex/Other pathogenic | Low clinical importance, uncertain | Associated with increased risk of prostate cancer in individuals who already have a family history of prostate cancer, but studies have been unable to replicate this finding in sporadic (non-familial) prostate cancer cases. |
| 1.25 | TP53-P72R | het unknown | 0.550 | Unknown pathogenic | Low clinical importance, uncertain | This is a common variant was first reported as a polymorphism. It has since had mixed associations with cancer: Storey et al. conclude a 7x *increased* risk of HPV cancer for homozygotes vs hets, but Jones et al. find a 1.98x *decreased* risk for colorectal cancer. This variant may have significant impact on particular cancers, but it is unclear what effect it has on the overall burden of cancer. |
| 1 | ENO3-N71S | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | ENO3-V85A | homozygous | Unknown not reviewed | 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 | PIK3R6-L609Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | AKAP10-I646V | het unknown | 0.434 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | AKAP10-R249H | het unknown | 0.427 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | DLL3-F172C | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests with associated GeneReview | |
| 1 | DLL3-L218P | het unknown | 0.650 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | CD226-S307G | homozygous | 0.423 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 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 | AIM1-Q293P | het unknown | 0.181 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | AIM1-C491R | het unknown | 0.181 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.091 (benign) |
| 1 | AIM1-E1196A | homozygous | 0.935 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.015 (benign) |
| 1 | AIM1-C1395Y | het unknown | 0.243 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.958 (probably damaging) |
| 1 | ATG9B-A765Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ATG9B-R141W | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 1 | HSH2D-S223Shift | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | SEBOX-L207S | het unknown | 0.913 | 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 | AKAP9-M463I | homozygous | 0.376 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | AKAP9-K1335KQ | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | AKAP9-N2792S | homozygous | 0.271 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | AKAP9-P2979S | homozygous | 0.997 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | AKAP9-M3614V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | ABCB1-S893A | het unknown | 0.625 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 1 | ABCB1-N21D | het unknown | 0.044 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | HRNR-L2688S | het unknown | 0.939 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-S799T | het unknown | 0.569 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-D668C | het unknown | 0.057 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-R664Q | het unknown | 0.568 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-Y517C | het unknown | 0.185 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-G492R | het unknown | 0.588 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-E473G | homozygous | 0.951 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-G427D | het unknown | 0.357 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-Q376R | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-H273Q | het unknown | 0.383 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-R85H | het unknown | 0.553 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.078 (benign) |
| 1 | HRNR-M1Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | MLXIPL-A358V | het unknown | 0.134 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.345 (possibly damaging) |
| 1 | MLXIPL-Q241H | het unknown | 0.090 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.697 (possibly damaging) |
| 1 | CTDP1-S61A | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | PTPN22-W620R | homozygous | 0.970 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | DCAF15-C482Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | SYNE1-L8741M | het unknown | 0.098 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | SYNE1-F7302V | homozygous | 0.991 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SYNE1-T5426M | het unknown | 0.067 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SYNE1-L5015M | homozygous | 0.866 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SYNE1-S4596T | homozygous | 0.800 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SYNE1-K4121R | homozygous | 0.835 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SYNE1-E4060D | het unknown | 0.539 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | SYNE1-A2795V | homozygous | 0.260 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | SYNE1-E2235D | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | SYNE1-N1915Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview |
| 1 | SYNE1-V1035A | homozygous | 0.632 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.673 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | SLC22A1-R61C | het unknown | 0.024 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 1.0 (probably damaging) |
| 1 | SLC22A1-G401S | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 1 | INSR-A2G | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | AP1S2-T35A | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | AP1S2-R29P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | F5-M1764V | homozygous | 0.273 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | F5-L1749V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | F5-T1685S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | F5-K925E | homozygous | 0.196 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | F5-H865R | homozygous | 0.238 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | F5-K858R | homozygous | 0.239 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | F5-Q534R | homozygous | 0.991 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SPG7-T503A | het unknown | 0.095 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | SPG7-R688Q | het unknown | 0.072 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.203 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | SH2B3-W262R | homozygous | 0.768 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | B3GNT6-L316Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | B3GNT6-L335Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | NEB-I6534V | homozygous | 0.372 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | NEB-A6277P | homozygous | 0.691 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | NEB-R4389T | homozygous | 0.724 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | NEB-D3655G | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | NEB-W3348C | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | NEB-R2773Q | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | NEB-K2613N | homozygous | 0.138 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | NEB-V1491M | homozygous | 0.453 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | NEB-Y1301H | homozygous | 0.668 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | NEB-K1027N | homozygous | 0.476 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | MTHFD1-R653Q | homozygous | 0.320 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.008 (benign) |
| 1 | C14orf104-D768G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | C14orf104-E62D | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | ANKK1-G318R | het unknown | 0.165 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.006 (benign) |
| 1 | ANKK1-G442R | het unknown | 0.541 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | ANKK1-H490R | het unknown | 0.210 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 1 | ANKK1-E713K | het unknown | 0.347 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 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 | SLCO1B1-N130D | homozygous | 0.663 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 1 | SLCO1B1-P155T | homozygous | 0.071 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 1 | VDR-M1T | homozygous | 0.687 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests |
| 1 | CYP1B1-N453S | het unknown | 0.094 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.837 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | CYP1B1-V432L | homozygous | 0.547 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | CYP1B1-R48G | het unknown | 0.360 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | KRT4-G160GAGGFGAGFGTGGFG | homozygous | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | MSH6-G39E | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.873 (probably damaging), Testable gene in GeneTests with associated GeneReview | |
| 1 | HPS6-A597Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 1 | HPS6-G599Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 1 | NOP10-D12H | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.932 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | ABCC1-G671V | het unknown | 0.016 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | AK300656-R11* | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 1 | GPR56-S281R | homozygous | 0.750 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | GPR56-Q306H | homozygous | 0.094 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | PLEKHA2-P389Shift | homozygous | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | ZFPM1-E444Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ZFPM1-L446Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | GSPT1-V100A | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | GSPT1-G92C | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) | |
| 1 | ZNF598-S447* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 1 | ZNF598-G42Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ZNF598-E25G | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ZNF598-E17A | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ZNF598-DM13AL | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ZNF598-G6Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | CHIT1-A442G | het unknown | 0.092 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | CHIT1-V357V* | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation, Testable gene in GeneTests |
| 1 | CHIT1-G102S | het unknown | 0.268 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.057 (benign), Testable gene in GeneTests |
| 1 | TTN-E32349A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-A19840P | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-R9852H | het unknown | 0.198 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-G9378R | het unknown | 0.395 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-E4719G | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-S3419N | homozygous | 0.850 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-V3261M | homozygous | 0.840 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-S1295L | homozygous | 0.881 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-K1201E | homozygous | 0.519 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-T811I | het unknown | 0.146 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TOR1A-D216H | het unknown | 0.089 | Unknown protective | Low clinical importance, likely | This SNP has been shown to be benign and play a protective role against Dystonia. |
| 1 | NR_027242-N339D | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | NR_027242-L114P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | NR_027242-Q97Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | NR_027242-L22P | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | NPRL3-L489Shift | homozygous | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | NPRL3-N184H | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 1 | KCP-H313Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | KCP-A16Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | CUL7-Q813R | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | INADL-E362A | homozygous | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.96 (probably damaging) |
| 1 | INADL-I870M | homozygous | 0.983 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | INADL-G1178S | het unknown | 0.405 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | INADL-R1282H | het unknown | 0.497 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.01 (benign) |
| 1 | INADL-V1360L | het unknown | 0.563 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HLA-DQA1-L8M | homozygous | 0.457 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-A11T | het unknown | 0.085 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-C34Y | het unknown | 0.547 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-F41S | homozygous | 0.544 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-Q57E | het unknown | 0.203 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-E63G | het unknown | 0.233 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-A68V | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQA1-RW70CL | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQA1-RW70CL | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQA1-EF73VL | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQA1-EF73VL | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQA1-S75R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQA1-SK75RQ | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQA1-K76R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQA1-G78R | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQA1-G79Del | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQA1-G79Del | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQA1-G84F | homozygous | 0.122 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-R87T | homozygous | 0.170 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-M89I | homozygous | 0.200 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | 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 |
| 1 | HLA-DQA1-IM98SL | het unknown | 0.066 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-IM98SL | het unknown | 0.066 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-Y103S | homozygous | 0.544 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-Q152H | homozygous | 0.526 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | CCDC66-D5Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | CCDC66-Q383R | homozygous | 0.934 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | CCDC66-R460Q | het unknown | 0.206 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.999 (probably damaging) |
| 1 | CCDC66-S606SS | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ZNF761-L47Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ZNF761-I122S | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ZNF761-V168I | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ZNF761-G528S | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ZNF761-E603Q | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | RYK-L17Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | KRTAP7-1-I61S | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | KRTAP7-1-S51P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | KRTAP7-1-Y17Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | PADI6-V343Shift | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | BANK1-R61H | het unknown | 0.221 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | BANK1-A383T | het unknown | 0.233 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.778 (possibly damaging) |
| 1 | BANK1-C650R | homozygous | 0.990 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | DSP-I305F | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.912 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | DSP-E1833V | het unknown | 0.008 | Unknown benign | Low clinical importance, uncertain | Reported to be benign with 1.5% allele frequency, although predicted to have damaging effect by Polyphen 2. |
| 1 | ADH1B-H48R | homozygous | 0.678 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | DGKK-L1014Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | NR_027444-W159Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | AX746903-T82Shift | 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 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | VSIG10L-M356I | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | VSIG10L-N3T | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | TCEAL6-Q175Shift | homozygous | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | FAM58A-Q15Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests | |
| 1 | FAM58A-G4Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests | |
| 1 | APOE-C130R | het unknown | 0.010 | Complex/Other pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests |
| 1 | ERCC2-K751Q | homozygous | 0.218 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | ERCC2-D312N | homozygous | 0.145 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.032 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | COL18A1-PGP1362Del | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | SCARF2-DV772EL | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | SCARF2-E764Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | SCARF2-P747Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | SCARF2-T425S | het unknown | 0.267 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | KCNJ11-V337I | het unknown | 0.761 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.75 | KCNJ11-K23E | het unknown | 0.711 | Unknown protective | Low clinical importance, likely | 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. |
| 0.75 | PRNP-M129V | het unknown | 0.258 | Complex/Other protective | Low clinical importance, well-established | This variant is associated with some protective effects for prion disease -- individuals homozygous for this variant are less susceptible to Creutzfeldt-Jakob, and Papua New Guinea individuals heterozygotes at this site are less susceptible to kuru. |
| 0.625 | LAMA3-E2121Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 0.625 | LAMA3-S2834G | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRP2-I4210L | homozygous | 0.462 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.993 (probably damaging) |
| 0.5 | LRP2-K4094E | homozygous | 0.744 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | TET2-P363L | het unknown | 0.028 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.917 (probably damaging) |
| 0.5 | TET2-L1721W | het unknown | 0.070 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.032 (benign) |
| 0.5 | HADH-L86P | homozygous | 0.859 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TUBAL3-R250W | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | GPR98-L1093F | het unknown | 0.835 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-V1951I | het unknown | 0.820 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-P1987L | het unknown | 0.333 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.366 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-Y2232C | het unknown | 0.349 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.989 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-N2345S | het unknown | 0.304 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-N2584S | het unknown | 0.825 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-E3471K | het unknown | 0.834 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-E3867K | het unknown | 0.356 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-E5344G | homozygous | 0.903 | 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 | 0.918 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-V5876I | het unknown | 0.424 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.94 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | PTF1A-S263P | homozygous | 0.654 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests |
| 0.5 | PPYR1-R240C | het unknown | 0.220 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.332 (possibly damaging) |
| 0.5 | PPYR1-V276M | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.889 (probably damaging) | |
| 0.5 | CDH23-N1349D | het unknown | 0.772 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-A1572T | het unknown | 0.720 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-V1672I | het unknown | 0.133 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-T1996S | homozygous | 0.248 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ANXA11-I278V | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 0.5 | ANXA11-R230C | het unknown | 0.382 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | ROR2-V819I | homozygous | 0.798 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ROR2-T245A | homozygous | 0.619 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | UMPS-G213A | het unknown | 0.170 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CHAT-A120T | het unknown | 0.149 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CHAT-V461M | homozygous | 0.927 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CR593643-I281V | homozygous | 0.827 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CR593643-R319H | het unknown | 0.029 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.942 (probably damaging) |
| 0.5 | HEATR7B2-L1179P | homozygous | 0.779 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HEATR7B2-N918K | homozygous | 0.314 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HEATR7B2-R526H | homozygous | 0.199 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.947 (probably damaging) |
| 0.5 | HEATR7B2-V496I | homozygous | 0.780 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HEATR7B2-R330Q | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | HEATR7B2-W191Q | het unknown | 0.238 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HEATR7B2-W191Q | het unknown | 0.238 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HEATR7B2-M11V | het unknown | 0.216 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.129 (benign) |
| 0.5 | AP3B1-V585E | homozygous | 0.806 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDK5RAP2-V1540L | homozygous | 0.714 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDK5RAP2-E289Q | homozygous | 0.801 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-V783A | homozygous | 0.405 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-H752Q | homozygous | 0.983 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-M613T | homozygous | 0.487 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-R364H | homozygous | 0.968 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL3A1-H1353Q | homozygous | 0.990 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FAM134B-G80Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests | |
| 0.5 | FAM134B-L79P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | IKBKAP-P1158L | homozygous | 0.268 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | IKBKAP-C1072S | homozygous | 0.270 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | IKBKAP-K952I | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-I4450V | het unknown | 0.481 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-A4134V | het unknown | 0.450 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-L2862F | homozygous | 0.212 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-I766L | homozygous | 0.404 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.026 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-H12Q | homozygous | 0.896 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MTRR-S202L | het unknown | 0.285 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MTRR-S284T | het unknown | 0.050 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MTRR-R442C | het unknown | 0.071 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MTRR-P477R | het unknown | 0.090 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | IPPK-L376F | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.865 (probably damaging) |
| 0.5 | EXD3-R653C | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.953 (probably damaging) |
| 0.5 | EXD3-V504M | het unknown | 0.068 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | EXD3-E322D | homozygous | 0.913 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | EXD3-R220Q | homozygous | 0.937 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | EXD3-A160T | het unknown | 0.868 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | EXD3-R20Q | homozygous | 0.677 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CFI-T300A | homozygous | 0.957 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | AK094914-K152N | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | AK094914-T33Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | AK094914-M25Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | SSFA2-P836L | het unknown | 0.029 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) |
| 0.5 | HGD-Q80H | homozygous | 0.742 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SETX-I1386V | homozygous | 0.494 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SETX-G1252R | homozygous | 0.494 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SETX-D1192E | homozygous | 0.598 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NOL8-K165R | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging) |
| 0.5 | BAG3-C151R | het unknown | 0.065 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | BAG3-P407L | het unknown | 0.150 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | AVPI1-L36R | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.924 (probably damaging) |
| 0.5 | UGT2B15-K523T | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | UGT2B15-Y85D | homozygous | 0.500 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | ATM-N1983S | homozygous | 0.991 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TRPC6-A404V | het unknown | 0.099 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.937 (probably damaging), Testable gene in GeneTests |
| 0.5 | MOGS-V62M | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.018 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | NPHP1-P39T | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.052 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | RANBP2-S748L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | RANBP2-T2492A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | RANBP2-I2585T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | FAM86C-A7S | het unknown | 0.002 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.195 (benign) |
| 0.5 | FAM86C-R30P | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.914 (probably damaging) | |
| 0.5 | FAM86C-V70A | het unknown | 0.446 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ALG9-V289I | homozygous | 0.332 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.907 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | HTR3E-E22Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | HTR3E-A86T | homozygous | 0.769 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | WNK1-T1056P | homozygous | 0.838 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | WNK1-C1506S | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | WNK1-P1602PSIPP | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | WNK1-M1808I | het unknown | 0.431 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | WFS1-V333I | homozygous | 0.889 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | WFS1-R611H | het unknown | 0.442 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ZCCHC4-D72H | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.953 (probably damaging) |
| 0.5 | ZCCHC4-L396H | homozygous | 0.868 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SNX19-L878R | homozygous | 0.808 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | SNX19-N753S | homozygous | 0.617 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SNX19-L618F | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SNX19-V361L | homozygous | 0.671 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 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 | HTT-Y2309H | het unknown | 0.459 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HTT-V2786I | het unknown | 0.193 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HYLS1-C31R | homozygous | 0.322 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests |
| 0.5 | CDC42BPG-Q1135R | het unknown | 0.306 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | CDC42BPG-A1048T | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.933 (probably damaging) | |
| 0.5 | MEN1-T546A | homozygous | 0.791 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MEN1-R176Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | S1PR3-R243Q | het unknown | 0.035 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | PKP3-R185W | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | SDAD1-G620A | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | SDAD1-K473E | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | HABP2-T50M | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | ZFYVE27-V82I | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ZFYVE27-G138V | homozygous | 0.720 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CALHM1-L86P | homozygous | 1.000 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | COL17A1-D1370G | het unknown | 0.257 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL17A1-M703V | homozygous | 0.672 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL17A1-G428S | homozygous | 0.771 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL17A1-T210M | het unknown | 0.557 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | AGRN-E728V | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests |
| 0.5 | CTSD-A58V | het unknown | 0.067 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GLI2-A1156S | homozygous | 0.536 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GLI2-D1306N | homozygous | 0.595 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PEX16-V116I | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MS4A14-I56Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | MS4A14-N177Y | homozygous | 0.543 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.981 (probably damaging) |
| 0.5 | MS4A14-G584R | het unknown | 0.513 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 0.5 | BDNF-V148M | het unknown | 0.208 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | SLC6A5-G102S | homozygous | 0.420 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC6A5-F124S | homozygous | 0.803 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC6A5-A162G | homozygous | 0.997 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TH-V108M | homozygous | 0.416 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SMPD1-G508R | homozygous | 0.151 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH1C-E819D | homozygous | 0.408 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALS2-V368M | homozygous | 0.869 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ERAP2-K392N | het unknown | 0.540 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ERAP2-L669Q | het unknown | 0.012 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.996 (probably damaging) |
| 0.5 | CCM2-V120I | het unknown | 0.091 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CCT6A-Y229C | het unknown | 0.049 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.996 (probably damaging) |
| 0.5 | GLI3-T183A | homozygous | 0.663 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SCN5A-T1591M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | SCN5A-H558R | het unknown | 0.215 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-V1023A | homozygous | 0.193 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-T1038A | homozygous | 0.747 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-N2641S | het unknown | 0.367 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-V3715L | homozygous | 0.452 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-M4172V | het unknown | 0.334 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-T4177I | het unknown | 0.359 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GHRHR-M422T | het unknown | 0.028 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ZNF620-Q355H | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.996 (probably damaging) |
| 0.5 | KAT2B-R653W | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.864 (probably damaging) |
| 0.5 | GBE1-I334V | homozygous | 0.979 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GBE1-R190G | het unknown | 0.321 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.025 (benign), 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-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 | het unknown | 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 | het unknown | 0.729 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL1A2-P549A | homozygous | 0.907 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PON1-Q192R | homozygous | 0.572 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | PON1-L55M | het unknown | 0.230 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | STEAP4-R318L | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | STEAP4-G75D | homozygous | 0.902 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NR_015394-G45W | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | NR_015394-F74S | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | NR_015394-T113Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | XPC-Q939K | homozygous | 0.683 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | XPC-A499V | het unknown | 0.188 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ARL13B-T348S | het unknown | 0.095 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GTF2I-N440S | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging) |
| 0.5 | AHR-R554K | homozygous | 0.315 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | PMS2-K541E | homozygous | 0.904 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PMS2-P470S | homozygous | Unknown benign | Low clinical importance, likely | Benign, common variant. | |
| 0.5 | SLC22A16-M409T | homozygous | 0.092 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | SLC22A16-E232G | het unknown | 0.018 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | ENPP5-R39P | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | ROS1-R167Q | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.983 (probably damaging) |
| 0.5 | CCR5-S185Shift | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | LCA5-L24S | homozygous | 0.904 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | IL17F-E126G | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | EYS-R2326Q | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | EYS-N1902I | het unknown | 0.316 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EYS-L1873V | het unknown | 0.081 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EYS-S1517G | het unknown | 0.099 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EYS-R1515W | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | EYS-I1451T | het unknown | 0.099 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EYS-L1419S | homozygous | 0.780 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EYS-I1361V | het unknown | 0.098 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EYS-Q1325E | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | EYS-I1263V | het unknown | 0.098 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EYS-L852P | het unknown | 0.655 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EYS-Q571R | het unknown | 0.108 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | COL9A1-S339P | homozygous | 0.507 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL7A1-P595L | het unknown | 0.076 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | EPB41L2-E998Q | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.914 (probably damaging) |
| 0.5 | IQCF2-R4Q | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.966 (probably damaging) |
| 0.5 | SLC22A2-S270A | homozygous | 0.876 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | HLA-DQB1-S214N | homozygous | 0.333 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-R199H | het unknown | 0.192 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-G157A | homozygous | 0.539 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-G102R | homozygous | 0.605 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-F41Y | homozygous | 0.789 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-LL28PV | het unknown | 0.156 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-S27T | homozygous | 0.206 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-V15A | het unknown | 0.053 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-D12G | homozygous | 0.395 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | QARS-N285S | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | HIVEP2-L1538P | homozygous | 0.972 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HIVEP2-Y1242C | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) |
| 0.5 | ANO10-R462Q | homozygous | 0.602 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ANO10-R263H | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | BCLAF1-S209C | het unknown | 0.004 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.96 (probably damaging) |
| 0.5 | BCLAF1-G66A | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | IL20RA-V259I | homozygous | 0.705 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | IL20RA-S177Y | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.935 (probably damaging) |
| 0.5 | COL6A3-A3012P | homozygous | 0.843 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL6A3-M2927T | het unknown | 0.674 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL6A3-D2831H | het unknown | 0.047 | Unknown benign | Low clinical importance, likely | Probably benign, reported by Pan et al. as a presumed-nonpathogenic variant in the gene. |
| 0.5 | COL6A3-P2218L | het unknown | 0.168 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CYP3A7-R409T | homozygous | 0.669 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | LY96-R56G | homozygous | 0.981 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | LY96-P157S | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.909 (probably damaging) |
| 0.5 | PEX2-C184R | homozygous | 0.990 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CNGB3-T298P | homozygous | 0.681 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CNGB3-C234W | homozygous | 0.939 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | IL13-Q144R | het unknown | 0.766 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | GGH-T151I | het unknown | 0.089 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.846 (possibly damaging) |
| 0.5 | GGH-A31T | het unknown | 0.198 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | GGH-C6R | het unknown | 0.088 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | ABCA12-S777T | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RP1-N985Y | homozygous | 0.206 | Unknown benign | Low clinical importance, uncertain | 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. |
| 0.5 | RP1-C2033Y | homozygous | 0.186 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests |
| 0.5 | SRA1-V110RL | homozygous | 0.360 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TRMT12-W28R | het unknown | 0.615 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TRMT12-D195Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | DRD3-G9S | homozygous | 0.482 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | VPS13A-V898A | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | APC-V1822D | homozygous | 0.887 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LNPEP-DY55ED | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | LNPEP-V359I | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.984 (probably damaging) |
| 0.5 | PKHD1-Q4048R | homozygous | 0.566 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKHD1-Q3899R | homozygous | 0.546 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKHD1-R3842L | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKHD1-T3628I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | PKHD1-L1870V | homozygous | 0.905 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKHD1-A1262V | het unknown | 0.239 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKHD1-H811R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | PKHD1-R760C | het unknown | 0.318 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DOCK8-D63N | het unknown | 0.079 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests |
| 0.5 | DOCK8-P97T | het unknown | 0.512 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests |
| 0.5 | DOCK8-N413S | het unknown | 0.193 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.19 (benign), Testable gene in GeneTests |
| 0.5 | DOCK8-A597V | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.96 (probably damaging), Testable gene in GeneTests |
| 0.5 | TG-S734A | homozygous | 0.698 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TG-M1028V | homozygous | 0.696 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.5 | TG-D1312G | homozygous | 0.344 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TG-D1838N | homozygous | 0.304 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.061 (benign), Testable gene in GeneTests |
| 0.5 | TG-M1974T | het unknown | 0.239 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TG-R1999W | het unknown | 0.372 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TG-W2501R | homozygous | 0.566 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.031 (benign), Testable gene in GeneTests |
| 0.5 | TG-R2530Q | homozygous | 0.586 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.5 | FAM83H-P637L | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) | |
| 0.5 | FAM83H-H437Y | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | FAM83H-Q201H | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | RECQL4-R766Shift | homozygous | 0.278 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RECQL4-S92P | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC26A2-I574T | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ADRB3-W64R | het unknown | 0.105 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | ZYX-R489W | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.976 (probably damaging) |
| 0.5 | NOS3-D298E | homozygous | 0.844 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | NOS3-V827M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | PHLDB2-C349R | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.994 (probably damaging) |
| 0.5 | CLCN1-G118W | homozygous | 0.995 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CLCN1-P727L | het unknown | 0.325 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | VWF-Q852R | homozygous | 0.904 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | VWF-T789A | het unknown | 0.355 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | VWF-H484R | homozygous | 0.498 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.83 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CYP3A43-P340A | het unknown | 0.215 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.925 (probably damaging) |
| 0.5 | TRIP6-R111Q | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.996 (probably damaging) |
| 0.5 | ATG16L1-T300A | homozygous | 0.347 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | FLT4-H890Q | homozygous | 0.355 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.714 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 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 | KIF4B-R580L | homozygous | 0.685 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | KIF4B-I834Shift | het unknown | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | TCOF1-A1353V | het unknown | 0.194 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TCOF1-G1394A | het unknown | 0.044 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | OBSL1-H1838Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | OBSL1-Q1578R | homozygous | 0.968 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | OBSL1-E1365D | homozygous | 0.723 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | OBSL1-R723K | homozygous | 0.770 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SPICE1-V284M | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging) |
| 0.5 | NAT2-I114T | het unknown | 0.220 | Recessive pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | NAT2-R197Q | het unknown | 0.272 | Recessive pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | NAT2-R268K | het unknown | 0.675 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 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 | MCPH1-R171S | homozygous | 0.865 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-D314H | homozygous | 0.648 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-D392G | homozygous | 0.979 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-A761V | homozygous | 0.504 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-P828S | het unknown | 0.241 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MSX2-M129T | homozygous | 0.716 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SKA3-D335E | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.986 (probably damaging) |
| 0.5 | FCRL3-Q121* | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | FCRL3-N28D | homozygous | 0.533 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | VMAC-R109H | het unknown | 0.018 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.99 (probably damaging) |
| 0.5 | STXBP2-I526V | homozygous | 0.725 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GSTM1-K173N | het unknown | 1.000 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ATP8B1-A1152T | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ATP8B1-R952Q | het unknown | 0.052 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | LOXHD1-A2036V | het unknown | 0.396 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | LOXHD1-R1090Q | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | DSC3-R102K | homozygous | 0.479 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DSC3-S78T | homozygous | 0.478 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.314 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DSC2-R798Q | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.433 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DSG2-E713K | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.137 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DSG2-R773K | homozygous | 0.221 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTR-G26S | het unknown | 0.030 | 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 | 0.910 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ICAM1-K469E | het unknown | 0.297 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | PRX-G1132R | het unknown | 0.978 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PRX-V882A | homozygous | 0.493 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | PRX-E495Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | CYP2B6-Q172H | het unknown | 0.295 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.009 (benign) |
| 0.5 | CYP2B6-K262R | het unknown | 0.298 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | CYP2B6-R487C | het unknown | 0.074 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.005 (benign) |
| 0.5 | TGFB1-P10L | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | BCKDHA-P39H | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | WDR62-L850S | het unknown | 0.677 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | WDR62-M1134R | het unknown | 0.040 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | WDR62-Q1310L | het unknown | 0.726 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | NUDT19-R142Q | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | TYK2-I684S | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests |
| 0.5 | TYK2-V362F | homozygous | 0.268 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.5 | TSPAN16-S233Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | MAN2B1-N413S | het unknown | 0.055 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.489 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MAN2B1-R337Q | het unknown | 0.237 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.027 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MAN2B1-T312I | het unknown | 0.324 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.045 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MAN2B1-L278V | het unknown | 0.236 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MAN2B1-P248L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | NOTCH3-A2223V | homozygous | 0.553 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TXNDC2-P171L | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.852 (probably damaging) | |
| 0.5 | ZNF750-P288L | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.984 (probably damaging) |
| 0.5 | ZNF750-M235V | het unknown | 0.107 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.01 (benign) |
| 0.5 | BRCA1-S1634G | homozygous | 0.292 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | BRCA1-K1183R | homozygous | 0.302 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | BRCA1-E1038G | homozygous | 0.265 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | BRCA1-P871L | homozygous | 0.555 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | IL6R-D358A | het unknown | 0.266 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.911 (probably damaging) |
| 0.5 | NPEPPS-G322D | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) | |
| 0.5 | NPEPPS-T475A | het unknown | 0.011 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | JUP-M697L | het unknown | 0.520 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | JUP-R142H | het unknown | 0.033 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | KRT14-C63Y | homozygous | 0.976 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEURL4-M1418V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | NEURL4-R1406H | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.912 (probably damaging) |
| 0.5 | RHBG-G76D | het unknown | 0.236 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | RHBG-V143D | het unknown | 0.236 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | RHBG-G315R | het unknown | 0.550 | 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 | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | GPR179-S1152P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | GPR179-K1150E | het unknown | 0.283 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | GPR179-R884W | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | HEBP1-E183D | het unknown | 0.015 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.97 (probably damaging) |
| 0.5 | PNPO-R116Q | het unknown | 0.036 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.953 (probably damaging), Testable gene in GeneTests |
| 0.5 | PPP1R9B-E304Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | PPP1R9B-S301* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | UNC13D-K867E | homozygous | 0.596 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SEC22B-D70Y | het unknown | 0.003 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | SEC22B-T81K | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SEC22B-R107Q | het unknown | 0.002 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | SEC22B-C129R | het unknown | 0.085 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SEC22B-R131* | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | SEC22B-H189R | het unknown | 0.508 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ENGASE-R321H | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.989 (probably damaging) |
| 0.5 | GAA-H199R | homozygous | 0.574 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GAA-R223H | homozygous | 0.606 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GAA-V780I | homozygous | 0.720 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TSEN54-P7PEP | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | TSEN54-E4D | het unknown | 0.675 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TSEN54-I137L | het unknown | 0.119 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.846 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | TSEN54-K347N | het unknown | 0.430 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.968 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | TSEN54-A437V | het unknown | 0.515 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | TSEN54-P483A | het unknown | 0.062 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-R3738H | het unknown | 0.134 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.278 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-V3179G | het unknown | 0.339 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-D2936G | het unknown | 0.138 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-E2652D | het unknown | 0.304 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.406 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-L2481S | het unknown | 0.222 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-K2444E | het unknown | 0.188 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-E2398Q | het unknown | 0.144 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.92 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-S2366T | het unknown | 0.125 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.967 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-D2339N | het unknown | 0.179 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-Y2119H | het unknown | 0.119 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-A2108V | het unknown | 0.121 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-L1943H | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-R1891Q | het unknown | 0.061 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-A1805V | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-R1699C | het unknown | 0.428 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-R1684H | het unknown | 0.190 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-S1482Y | het unknown | 0.243 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-R1376G | het unknown | 0.170 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-R1360H | het unknown | 0.164 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-A1167G | het unknown | 0.425 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-E755K | het unknown | 0.155 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-P478S | het unknown | 0.318 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-G444R | het unknown | 0.319 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-G332V | het unknown | 0.227 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL1A1-T1075A | homozygous | 0.961 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SEPT4-E311V | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.856 (probably damaging) |
| 0.5 | SCN4A-N1376D | het unknown | 0.604 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SCN4A-S524G | homozygous | 0.938 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG2-S2377* | het unknown | 0.298 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Nonsense mutation |
| 0.5 | FLG2-G2008A | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.889 (probably damaging) |
| 0.5 | FLG2-A2002G | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | FLG2-R276Q | het unknown | 0.325 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FLG2-L41F | het unknown | 0.364 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF224-M118V | homozygous | 0.793 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF224-H162L | homozygous | 0.780 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.262 (possibly damaging) |
| 0.5 | ZNF224-T177M | het unknown | 0.129 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | ZNF224-K640E | homozygous | 0.593 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | SIX5-P635S | homozygous | 0.533 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SIX5-L556V | homozygous | 0.833 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SGSM3-W20R | het unknown | 0.002 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.988 (probably damaging) |
| 0.5 | DNAJB7-E41A | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.957 (probably damaging) |
| 0.5 | EP300-I997V | homozygous | 0.176 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FAM83F-R436G | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.939 (probably damaging) | |
| 0.5 | GCAT-R39C | homozygous | 0.580 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.989 (probably damaging) |
| 0.5 | GCAT-R387W | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) | |
| 0.5 | COL6A1-S890L | homozygous | 0.203 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL6A2-D227N | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.184 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL6A2-S399N | homozygous | 0.727 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL6A2-R680H | homozygous | 0.389 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | HPS4-Q620H | homozygous | 0.806 | 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 | 0.807 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HPS4-V547M | homozygous | 0.780 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HPS4-L438V | het unknown | 0.344 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HPS4-E224G | homozygous | 0.779 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DEM1-L151P | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.948 (probably damaging) |
| 0.5 | DEM1-G172V | het unknown | 0.573 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DEM1-R344Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | ZNF643-P372R | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.996 (probably damaging) |
| 0.5 | FAM46B-H416R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.968 (probably damaging) | |
| 0.5 | H2BFM-Q73* | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | HTR2C-C23S | het unknown | 0.191 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.004 (benign) |
| 0.5 | RNF207-N573S | het unknown | 0.474 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | RNF207-G603A | het unknown | 0.165 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign) |
| 0.5 | OPN1LW-I230T | het unknown | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | OPN1LW-A233S | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ATP7A-V767L | het unknown | 0.332 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ATP7A-E1350K | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PGAM4-R86H | het unknown | 0.011 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | ALPL-V522A | het unknown | 0.078 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MXRA5-L2531V | homozygous | 0.598 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MXRA5-G2000S | homozygous | 0.722 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MXRA5-P1665S | homozygous | 0.417 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.988 (probably damaging) |
| 0.5 | MXRA5-G1394D | homozygous | 0.769 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MXRA5-A1128V | homozygous | 0.547 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MXRA5-P827R | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.936 (probably damaging) |
| 0.5 | MXRA5-I824V | homozygous | 0.795 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DMD-R2937Q | homozygous | 0.899 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DMD-R1745H | homozygous | 0.387 | 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 | 0.727 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PLEKHG5-G866S | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.5 | PLEKHG5-M496V | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.795 (possibly damaging), Testable gene in GeneTests |
| 0.5 | PLEKHG5-T294S | het unknown | 0.267 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SLC19A1-H27R | homozygous | 0.447 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.002 (benign) |
| 0.5 | TMPRSS3-V53I | het unknown | 0.113 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.36 (possibly damaging), Testable gene in GeneTests |
| 0.5 | DEFB128-H62Shift | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | DEFB128-K27N | homozygous | 0.686 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DPYD-I543V | het unknown | 0.199 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | DPYD-R29C | homozygous | 0.731 | Complex/Other pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | C20orf54-I303V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | C20orf54-T278M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | C20orf54-P267L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 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 | ZNF544-Q700R | homozygous | 0.538 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.004 (benign) |
| 0.5 | ZNF544-R708W | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | ACPT-P95L | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.994 (probably damaging) |
| 0.5 | ZNF480-C3Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 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 | 0.354 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF880-N202H | het unknown | 0.292 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF880-Q406R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | ZNF880-K471R | het unknown | 0.328 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | LILRA1-V5L | het unknown | 0.278 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | LILRA1-R12G | het unknown | 0.302 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | LILRA1-S153G | het unknown | 0.180 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | LILRA1-L220P | het unknown | 0.297 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | LILRA1-GE261WG | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | LILRA1-V387L | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging) |
| 0.5 | SDCBP2-R191Q | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) |
| 0.5 | SDCBP2-V182M | het unknown | 0.352 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PANK2-R94P | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.783 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | PANK2-A101G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | PANK2-G126A | homozygous | 0.917 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SAMD10-A151V | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.985 (probably damaging) | |
| 0.5 | TPTE-R229* | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | NRIP1-P691S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | NRIP1-R448G | het unknown | 0.029 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | FAAH-P129T | het unknown | 0.237 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign) |
| 0.5 | SPATA6-C478Y | het unknown | 0.278 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | SPATA6-E228K | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging) |
| 0.5 | CPT2-V368I | het unknown | 0.477 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CPT2-M647V | het unknown | 0.093 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CRLS1-A20T | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.012 (benign) | |
| 0.5 | CRLS1-P193L | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.988 (probably damaging) |
| 0.5 | WISP2-R59Q | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.864 (probably damaging) | |
| 0.5 | FAM65C-E415D | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.937 (probably damaging) |
| 0.5 | SALL4-L507R | het unknown | 0.328 | Dominant not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.125 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | KRTAP4-1-R26C | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
| 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 | SIX6-H141N | homozygous | 0.314 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SYNE2-M1969T | het unknown | 0.637 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-A2284V | het unknown | 0.637 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-S2359N | het unknown | 0.676 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-A2395T | homozygous | 0.835 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SYNE2-I2564V | het unknown | 0.030 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SYNE2-V2588M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | SYNE2-S2802G | homozygous | 0.864 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.012 (benign), Testable gene in GeneTests |
| 0.5 | SYNE2-I2942V | het unknown | 0.622 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SYNE2-E3026D | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.027 (benign), Testable gene in GeneTests |
| 0.5 | SYNE2-D3253H | het unknown | 0.684 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-H3309R | het unknown | 0.647 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | SYNE2-L5186M | het unknown | 0.708 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ZFYVE26-N1891S | homozygous | 0.900 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ZFYVE26-S1040T | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.004 (benign), Testable gene in GeneTests |
| 0.5 | ZFYVE26-T898S | het unknown | 0.046 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests |
| 0.5 | PRSS38-A123D | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.989 (probably damaging) |
| 0.5 | PRSS38-M204V | homozygous | 0.791 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | LRRC16B-L1022M | het unknown | 0.346 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | LRRC16B-G1161V | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.975 (probably damaging) |
| 0.5 | NR_028064-G139Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | NR_028064-H49Q | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | NR_028064-H41Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | OR4L1-D2N | het unknown | 0.541 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | OR4L1-G16V | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.893 (probably damaging) |
| 0.5 | OR4L1-M40V | het unknown | 0.541 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | OR4L1-R52S | homozygous | 0.943 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | OR4L1-I83Shift | het unknown | 0.484 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift |
| 0.5 | OR4L1-I160T | het unknown | 0.061 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.025 (benign) |
| 0.5 | TEP1-H2562R | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TEP1-R1772Q | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TEP1-C1468Y | het unknown | 0.268 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TEP1-S1195P | het unknown | 0.703 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TEP1-R1155Q | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TEP1-R1055C | het unknown | 0.631 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MLH3-P844L | homozygous | 0.298 | 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 | 0.981 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GALC-T641A | homozygous | 0.892 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GALC-I562T | het unknown | 0.446 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.167 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | TNNT2-K260R | het unknown | 0.088 | 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 | ASPM-L2647I | homozygous | 0.198 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ASPM-S2562G | homozygous | 0.212 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ASPM-Y2494H | homozygous | 0.992 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ZFYVE19-R48Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | ZFYVE19-S376A | het unknown | 0.814 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | AVEN-E243A | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.924 (probably damaging) |
| 0.5 | AVEN-Q228R | het unknown | 0.119 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.97 (probably damaging) |
| 0.5 | SLAMF1-P333T | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | SLAMF1-F11L | het unknown | 0.087 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.005 (benign) |
| 0.5 | USH2A-M3868V | het unknown | 0.131 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-E3411A | het unknown | 0.638 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-I2169T | het unknown | 0.575 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-I2106T | homozygous | 0.629 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-R1486K | homozygous | 0.646 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-A125T | homozygous | 0.777 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TRPM1-P399T | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests |
| 0.5 | TRPM1-S32N | het unknown | 0.786 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TRPM1-M1T | het unknown | 0.898 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | DOCK9-R18W | het unknown | 0.044 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | FARP1-H644Y | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | GCKR-L446P | het unknown | 0.673 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | ZFC3H1-K1807R | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.92 (probably damaging) |
| 0.5 | ASXL2-S185G | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging) |
| 0.5 | KRT6B-I365V | homozygous | 1.000 | 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 | 0.623 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALK-D1529E | het unknown | 0.606 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALK-I1461V | homozygous | 0.982 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLCO1B3-S112A | homozygous | 0.646 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | SLCO1B3-M233I | homozygous | 0.659 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.131 (benign) |
| 0.5 | SLCO1B3-G256A | het unknown | 0.102 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.981 (probably damaging) |
| 0.5 | LRRK2-R50H | homozygous | 0.927 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRRK2-M2397T | het unknown | 0.526 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL2A1-T9S | homozygous | 0.598 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MMAB-M239K | homozygous | 0.469 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MMAB-R19Q | homozygous | 0.283 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | OAS3-R18K | homozygous | 0.662 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | OAS3-E179Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | OAS3-R844* | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | PCNXL2-N2065S | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | PCNXL2-R117K | het unknown | 0.252 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ATP7B-V1140A | homozygous | 0.495 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ATP7B-R952K | homozygous | 0.481 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ATP7B-K832R | homozygous | 0.455 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.461 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ATP7B-V456L | homozygous | 0.360 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ATP7B-S406A | homozygous | 0.355 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DZIP1-C604W | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) | |
| 0.5 | B3GALTL-E370K | homozygous | 0.612 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SACS-F2780C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | SACS-A694T | het unknown | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC24A6-LL561N | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | SLC24A6-C559Y | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.942 (probably damaging) |
| 0.5 | APOB-S4338N | het unknown | 0.725 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | APOB-R3638Q | het unknown | 0.038 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | APOB-P2739L | het unknown | 0.346 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | APOB-I2313V | het unknown | 0.964 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | APOB-H1923R | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | APOB-Y1422C | homozygous | 0.994 | Unknown benign | Low clinical importance, uncertain | This position is almost certainly an error in the HG18 reference sequence. |
| 0.5 | APOB-D1113H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | APOB-A618V | het unknown | 0.494 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | APOB-T98I | het unknown | 0.149 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HIP1R-C938F | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | EVC-P157A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | EVC-Y258H | homozygous | 0.721 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests |
| 0.5 | EVC-T449K | homozygous | 0.871 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EVC-R576Q | homozygous | 0.274 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests |
| 0.5 | SPATA7-D2N | homozygous | 0.155 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.665 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | TRAP1-R469C | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) | |
| 0.5 | TRAP1-R307G | homozygous | 0.373 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF764-A332V | het unknown | 0.103 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.831 (possibly damaging) |
| 0.5 | ZNF764-R52Q | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | NOD2-N289S | het unknown | 0.007 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.92 (probably damaging), Testable gene in GeneTests |
| 0.5 | NOD2-V955I | homozygous | 0.055 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | NQO1-P187S | het unknown | 0.283 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.215 (possibly damaging) |
| 0.5 | SH2B1-T484A | het unknown | 0.217 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | MYH11-V1296A | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCC6-M848V | homozygous | 0.954 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCC6-H632Q | homozygous | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCC6-V614A | homozygous | 0.354 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SALL1-V1275I | homozygous | 0.983 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RBL2-E575Q | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
| 0.5 | CES3-R367W | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.965 (probably damaging) |
| 0.5 | LDHD-H208Y | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.899 (probably damaging) |
| 0.5 | LRRC50-E432D | homozygous | 0.113 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.017 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRRC50-D555V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | FCRLB-T32I | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | ONECUT1-P75A | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.97 (probably damaging) |
| 0.5 | FAM38A-A1474Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | FAM38A-E1472Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | FAM38A-Q1468QEQ | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | FAM38A-R407G | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | FAM38A-V394L | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | FAM38A-V250A | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | FAM38A-I83T | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | CYBA-V174A | het unknown | 0.417 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CYBA-Y72H | het unknown | 0.649 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | BC139719-P80Shift | het unknown | 0.035 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | HEXA-I436V | homozygous | 0.748 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ADAMTSL3-H146R | het unknown | 0.706 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.04 (benign) |
| 0.5 | ADAMTSL3-L290V | het unknown | 0.833 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ADAMTSL3-V661L | het unknown | 0.711 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | ADAMTSL3-R1560C | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | CYP1A1-T461N | het unknown | 0.008 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign) |
| 0.5 | ABCA3-L316LFL | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CTNS-T260I | homozygous | 0.825 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NR2E3-T318Shift | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift, Testable gene in GeneTests |
| 0.5 | SLC28A1-D521N | homozygous | 0.226 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | CHRNE-G18V | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TPSG1-F288L | het unknown | 0.620 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TPSG1-T239I | het unknown | 0.878 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.5 | TPSG1-R193H | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.091 (benign) |
| 0.5 | TPSG1-W160S | het unknown | 0.125 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | TPSG1-S138F | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.941 (probably damaging) |
| 0.5 | TPSG1-V60M | het unknown | 0.137 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PKD1-I4045V | het unknown | 0.250 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKD1-F3066L | het unknown | 0.075 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKD1-H2932R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | PKD1-T2582M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | PKD1-W1399R | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.031 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKD1-M1092T | het unknown | 0.081 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | BLM-P868L | het unknown | 0.057 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.595 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | BLM-V1321I | het unknown | 0.052 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FANCI-A86V | homozygous | 0.219 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FANCI-C742S | homozygous | 0.234 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | GBA-H310D | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.375 | GBA-K144R | het unknown | 0.619 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | GBA-R140W | het unknown | 0.357 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | ALMS1-S524SP | het unknown | 0.578 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | ALMS1-V671G | het unknown | 0.857 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | ALMS1-A2502S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.375 | ALMS1-S2574N | het unknown | 0.144 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | ALMS1-D2672H | het unknown | 0.136 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | ALMS1-R4029K | het unknown | 0.527 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | TRIOBP-T195I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.375 | TRIOBP-S217N | het unknown | 0.413 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests |
| 0.375 | TRIOBP-Q398Del | het unknown | 0.308 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.375 | TRIOBP-K413R | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.375 | TRIOBP-T817S | het unknown | 0.080 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.16 (benign), Testable gene in GeneTests |
| 0.375 | TRIOBP-N863K | het unknown | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests |
| 0.375 | TRIOBP-F1187L | het unknown | 0.320 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests |
| 0.375 | TRIOBP-H1300R | het unknown | 0.431 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.006 (benign), Testable gene in GeneTests |
| 0.375 | TRIOBP-W1377R | homozygous | 0.964 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.084 (benign), Testable gene in GeneTests |
| 0.375 | MYH6-A1662T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.375 | MYH6-V1101A | het unknown | 0.422 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | HPS5-G501R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.375 | HPS5-L417M | het unknown | 0.150 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.956 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL4A4-S1400P | het unknown | 0.504 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL4A4-V1327M | het unknown | 0.464 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL4A4-P1004L | het unknown | 0.528 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL4A4-P482S | het unknown | 0.493 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL4A3-L141P | het unknown | 0.760 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL4A3-E162G | het unknown | 0.764 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL4A3-D326Y | het unknown | 0.203 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | DNAH6-V141M | homozygous | 0.942 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | DNAH6-S476Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | CDA-K27Q | het unknown | 0.190 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | IDUA-H33Q | het unknown | 0.750 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | AMOTL2-E732D | het unknown | 0.864 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | AMOTL2-A447Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | MCEE-A76V | het unknown | 0.177 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ADAMTS4-S768Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | ADAMTS4-Q626R | het unknown | 0.736 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SLC41A3-N403Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | SLC41A3-T62A | homozygous | 0.982 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | AGT-M268T | het unknown | 0.733 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TMEM131-S1715Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | TMEM131-P1316L | homozygous | 0.078 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | DBT-S384G | het unknown | 0.869 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ABCB11-V444A | het unknown | 0.606 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | RGSL1-I465Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | RGSL1-I683V | het unknown | 0.316 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | LAMC2-S733T | het unknown | 0.192 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.935 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | ITGA6-A380T | het unknown | 0.253 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | HMCN1-I2418T | het unknown | 0.553 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests |
| 0.25 | HMCN1-E2893G | het unknown | 0.617 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.91 (probably damaging), Testable gene in GeneTests |
| 0.25 | TSEN15-G19D | het unknown | 0.295 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.932 (probably damaging) |
| 0.25 | TSEN15-Q59H | het unknown | 0.283 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.961 (probably damaging) |
| 0.25 | COL11A1-S1547P | het unknown | 0.752 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL11A1-P1335L | het unknown | 0.479 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SCN1A-A1056T | het unknown | 0.806 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | STIL-H985R | het unknown | 0.172 | 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 | 0.633 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CPS1-T1406N | het unknown | 0.263 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | KCNQ4-H455Q | het unknown | 0.156 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.191 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | EDARADD-M9I | het unknown | 0.726 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CTLA4-T17A | het unknown | 0.463 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign) |
| 0.25 | FMO3-E158K | het unknown | 0.374 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | FMO3-E308G | het unknown | 0.104 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.141 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | C1orf125-I522L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C1orf125-W552* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | C1orf125-E991Del | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C1orf125-Q993E | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | CYP4B1-R173W | het unknown | 0.184 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | CAPN9-S58Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | CAPN9-S122R | het unknown | 0.157 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.057 (benign) |
| 0.25 | CAPN9-K322Q | homozygous | 0.298 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CAPN9-R522W | het unknown | 0.201 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.25 (possibly damaging) |
| 0.25 | HIVEP3-P2375S | het unknown | 0.094 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | HIVEP3-T2338A | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | HIVEP3-D2109A | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | HIVEP3-A2023P | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | HIVEP3-S1296Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | HIVEP3-H575R | homozygous | 0.990 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | HIVEP3-V35I | het unknown | 0.320 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.006 (benign) |
| 0.25 | MUC5AC-V186Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | MUC5AC-Q358E | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | MUC5AC-V497A | homozygous | 0.977 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MUC5AC-L3247P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | MUC5AC-T3867A | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | DOK7-G461D | het unknown | 0.128 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.565 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | ITPRIPL2-E436Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | ITPRIPL2-P522S | het unknown | 0.064 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.716 (possibly damaging) |
| 0.25 | BBS4-I354T | het unknown | 0.399 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TLN2-S460* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | TLN2-SG461RR | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | TLN2-F2266L | het unknown | 0.191 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | GATM-Q110H | het unknown | 0.651 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CD19-L174V | het unknown | 0.876 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | BBS2-I123V | het unknown | 0.251 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | BBS2-S70N | homozygous | 0.992 | Unknown benign | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | NLRP1-M1184V | het unknown | 0.433 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | NLRP1-V1059M | het unknown | 0.165 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.006 (benign) |
| 0.25 | NLRP1-L155H | het unknown | 0.120 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.064 (benign) |
| 0.25 | FANCA-G501S | het unknown | 0.654 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | C16orf85-E145D | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C16orf85-R98Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | CES2-T58A | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | CES2-E59Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | GCSH-S21L | het unknown | 0.750 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SLC28A2-P22L | het unknown | 0.248 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SLC28A2-S75R | het unknown | 0.253 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | TTBK2-L8P | het unknown | 0.560 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ACADS-G209S | het unknown | 0.128 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests |
| 0.25 | CEP290-K838E | het unknown | 0.108 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CEP290-D664G | het unknown | 0.134 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.958 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | DPY19L2-Q575R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | DPY19L2-R574* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | DPY19L2-S51A | het unknown | 0.386 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | DPY19L2-A41V | het unknown | 0.266 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | DPY19L2-M37V | het unknown | 0.398 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | KRT5-G543S | het unknown | 0.107 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | KRT5-S528G | het unknown | 0.152 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | DHX37-R1081Q | het unknown | 0.573 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.136 (benign) |
| 0.25 | DHX37-S869G | het unknown | 0.590 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | DHX37-R458Q | het unknown | 0.061 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.762 (possibly damaging) |
| 0.25 | DHX37-T215Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | DHX37-M96I | het unknown | 0.393 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | BRCA2-R841K | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.25 | BRCA2-V2466A | homozygous | 0.954 | Dominant benign | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CDAN1-R891C | het unknown | 0.246 | 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 | 0.498 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CDAN1-Q107L | het unknown | 0.175 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SERPINA1-V237A | het unknown | 0.293 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | HEATR5A-N1743Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | HEATR5A-V593M | homozygous | 0.796 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FREM2-S745P | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | FREM2-F1070S | het unknown | 0.527 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | FREM2-R1840W | het unknown | 0.162 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests |
| 0.25 | FREM2-T2326I | homozygous | 0.768 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | C13orf23-A916S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C13orf23-A297Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | AIPL1-D90H | het unknown | 0.210 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.029 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | CHRNB1-E32G | het unknown | 0.172 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.288 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | MYH9-I1626V | het unknown | 0.289 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ARVCF-R906Q | homozygous | 0.613 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.004 (benign) |
| 0.25 | ARVCF-P220L | het unknown | 0.348 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.769 (possibly damaging) |
| 0.25 | ARVCF-V175A | het unknown | 0.371 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ARVCF-M54Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | CBR3-C4Y | het unknown | 0.391 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.002 (benign) |
| 0.25 | KCNE1-S38G | het unknown | 0.710 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | PNPLA3-C99G | het unknown | 0.074 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PNPLA3-I148M | het unknown | 0.268 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.778 (possibly damaging) |
| 0.25 | PNPLA3-K434E | het unknown | 0.801 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ARSA-T391S | het unknown | 0.423 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ARSA-N350S | het unknown | 0.241 | Unknown benign | Low clinical importance, well-established | This common variant (HapMap 24.1% allele frequency) causes a loss of a glycosylation site (affecting the size of the protein when studied with gel electrophoresis) but does not affect enzyme activity or stability. |
| 0.25 | XIAP-Q423P | het unknown | 0.277 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.053 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | ATRX-Q929E | het unknown | 0.565 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SLC16A2-S107P | het unknown | 0.444 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ARSE-G424S | het unknown | 0.543 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | KAL1-V534I | het unknown | 0.543 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | KCNQ2-N780T | het unknown | 0.509 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SLC17A9-N228S | het unknown | 0.970 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.25 | SLC17A9-N228S | het unknown | 0.970 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.25 | ITGB4-L1779P | het unknown | 0.486 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | DNAI2-V495I | het unknown | 0.258 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | DNAI2-A558T | het unknown | 0.674 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COG1-N392S | het unknown | 0.536 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SLFN12L-Y412C | homozygous | 0.804 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SLFN12L-Y350Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | SLFN12L-S257L | het unknown | 0.094 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | C17orf57-V312I | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C17orf57-K433* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | AL832652-H953R | homozygous | 0.750 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | AL832652-Y538Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | KISS1R-L364H | het unknown | 0.875 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | PCK1-V184L | homozygous | 0.856 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | PCK1-V368I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | BPIL1-M406Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | BPIL1-G407R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | TRIB3-Q84R | het unknown | 0.188 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | FBN3-E2610D | het unknown | 0.632 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FBN3-R1806Q | het unknown | 0.164 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FBN3-V1326I | het unknown | 0.290 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FBN3-D662N | homozygous | 0.984 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FBN3-F633Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | FPR1-E346A | homozygous | 0.800 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FPR1-N192K | het unknown | 0.516 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FPR1-R190W | het unknown | 0.128 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FPR1-I11T | het unknown | 0.831 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | CELA1-Q243R | het unknown | 0.086 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CELA1-R44W | het unknown | 0.262 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CELA1-Q10H | het unknown | 0.078 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.463 (possibly damaging) |
| 0.25 | CELA1-Y5P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | CELA1-V3Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | PON2-S311C | het unknown | 0.258 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PON2-A148G | het unknown | 0.257 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.25 | TTBK1-F45Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | TTBK1-G623A | het unknown | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | TTBK1-K1145R | het unknown | 0.202 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.651 (possibly damaging) |
| 0.25 | TTBK1-L1184S | homozygous | 0.398 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | KIF6-W719R | het unknown | 0.538 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.01 (benign) |
| 0.25 | TULP1-K261N | het unknown | 0.805 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TULP1-T67R | het unknown | 0.877 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TNXB-G2518E | het unknown | 0.658 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TNXB-H1161R | het unknown | 0.568 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL11A2-E276K | het unknown | 0.320 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.651 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | MUT-I671V | het unknown | 0.522 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MUT-R532H | het unknown | 0.238 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | RSPH4A-L589P | het unknown | 0.707 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | DPAGT1-I393V | het unknown | 0.431 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | GTF2IRD2P1-R561* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | GTF2IRD2P1-V397A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | GTF2IRD2P1-T376A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | TXNDC3-C208R | het unknown | 0.740 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | EYA4-G277S | het unknown | 0.467 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | NPSR1-N107I | het unknown | 0.462 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.25 | HSPA1L-E602K | het unknown | 0.225 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign) |
| 0.25 | HSPA1L-T493M | het unknown | 0.868 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign) |
| 0.25 | MICA-Y59C | het unknown | 0.293 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MICA-V152M | het unknown | 0.314 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MICA-E196K | het unknown | 0.363 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MICA-R274Q | het unknown | 0.538 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | MICA-G318Shift | het unknown | 0.163 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift |
| 0.25 | UGT2B7-Y268H | het unknown | 0.727 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | LPHN3-L1014H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | LPHN3-R1015L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | LPHN3-D1017Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | IGFBP7-A102Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | IGFBP7-L11F | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | TLR6-S249P | het unknown | 0.855 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | CNGA1-D203Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests | |
| 0.25 | CNGA1-S3F | homozygous | 0.401 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | MUC7-N80K | het unknown | 0.300 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.25 | MUC7-N80K | het unknown | 0.300 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.25 | MTTP-Q95H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | MTTP-I128T | het unknown | 0.250 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | MTTP-H297Q | het unknown | 0.636 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | NHLRC1-P111L | het unknown | 0.250 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | NIPAL4-R213G | het unknown | 0.505 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | FBN2-V965I | het unknown | 0.714 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | AK298931-E88Q | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | AK298931-W38* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | AK298931-T4S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | FAT4-I2153Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | FAT4-S3873N | homozygous | 0.988 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FAT4-P4972S | het unknown | 0.059 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ELN-G422S | het unknown | 0.225 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ERCC6-Q1413R | het unknown | 0.145 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | ERCC6-R1213G | het unknown | 0.159 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | ERCC6-M1097V | het unknown | 0.153 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ABCC8-A1369S | het unknown | 0.755 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SBF2-Q1216E | het unknown | 0.118 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.03 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | TRIM5-A168Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | TRIM5-R136Q | het unknown | 0.158 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PAX4-H321P | homozygous | 0.653 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | PAX4-C282R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | ALX4-P102S | het unknown | 0.217 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ALX4-R35T | het unknown | 0.393 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | POLA2-G583R | het unknown | 0.118 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.024 (benign) |
| 0.25 | MTMR2-K3T | het unknown | 0.216 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ALG8-N222S | het unknown | 0.120 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | MYO7A-L16S | het unknown | 0.550 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MYO7A-S1666C | het unknown | 0.610 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MYO7A-L1954I | het unknown | 0.552 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SPTBN2-L1188E | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | SPTBN2-S825G | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | CTTN-E254D | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | CTTN-K368Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | PIK3AP1-K638R | het unknown | 0.177 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PIK3AP1-P183Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | PIK3AP1-A83S | het unknown | 0.337 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PIK3AP1-E21K | het unknown | 0.142 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | TMEM67-I604V | het unknown | 0.710 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | DBH-A318S | het unknown | 0.104 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | CHRNA2-T125A | het unknown | 0.644 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CHRNA2-T22I | het unknown | 0.256 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SFTPC-S186N | het unknown | 0.222 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | KRBA1-D660E | homozygous | 0.970 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | KRBA1-L681Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | MLL3-R1092* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | MLL3-L291F | het unknown | 0.193 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.96 (probably damaging) |
| 0.25 | ADAM3A-G372S | homozygous | Unknown | 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-S296L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | ADAM3A-R215G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | KIF27-R860Q | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | KIF27-L775Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | VPS13B-G3407R | het unknown | 0.116 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | FKTN-R203Q | het unknown | 0.177 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.166 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | BC011779-Q186* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | BC011779-R139L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | BC011779-T99P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0 | SIAE-M89V | het unknown | 0.034 | Recessive pathogenic | Moderate clinical importance, uncertain | This variant, which has a 3.4% allele frequency in 1000 genomes data, is reported to be associated with autoimmune disease when homozygous. The statistical significance of the findings is unclear. Assuming it is pathogenic, we estimate that the relative risk of autoimmune disease in homozygous individuals is around 4x (8% risk vs. an average of 2% risk). |
| 0 | ACAD8-S171C | het unknown | 0.023 | Recessive pathogenic | Low clinical importance, uncertain | This variant (a.k.a S149C) was found as a compound heterozygote (with M130T) in a male newborn of European descent with isobutyryl-CoA dehydrogenase deficiency (identified by newborn screening). Lack of controls means that significance cannot be established and allele frequency cannot be estimated. Oglesbee et al. comment that IBD-deficiency may be relatively benign, most cases identified by newborn screening have remained asymptomatic, but Ferreira et al. report a symptomatic individual homozygous for this variant. |
| 0 | MBL2-G54D | het unknown | 0.102 | Recessive pathogenic | Low clinical importance, likely | 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). |
| 0 | RYR1-P2002Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 0 | CBS-I278T | het unknown | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.047 (benign), Testable gene in GeneTests with associated GeneReview |
Input file format: CGIVAR
Genome build: b37
Genome coverage: 2,740,502,342 bases (96.8% of callable positions, 90.7% of total positions)
Coding region coverage: 32,844,148 bases (98.9% of all genes, 99.4% 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