Variant report for hu3CAB43
- Data source: CGI sample GS01175-DNA_D03 from PGP sample 27486199
- This report: evidence.pgp-hms.org/genomes?fd8a564cf771f6721643d8a1d32020bd22075b09
- Person ID: hu3CAB43
- public profile: my.pgp-hms.org/profile/hu3CAB43
- Download: source data, dbSNP and nsSNP report (117 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 | 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 |
| 3 | APOA5-S19W | Low | Likely | Likely pathogenic Unknown, Heterozygous | 0.0646151 | This variant, also known as APOA5*3, is associated with higher plasma triglyceride concentrations but no significant correlation with coronary artery disease itself has been found. | 1 |
| 4 | rs5186 | Low | Likely | Likely pathogenic Unknown, Homozygous | 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 |
| 5 | H6PD-R453Q | Low | Uncertain | Uncertain pathogenic Recessive, Homozygous | 0.308886 | This common variant may have a small pathogenic effect by contributing to cortisone reductase deficiency (a rare abnormality) when homozygous and combined with a serious pathogenic variant. The same authors have tested and ruled out a contribution to polycystic ovary syndrome (similar phenotype, more common disease). | 1 |
| 6 | BRCA2-N372H | Low | Uncertain | Uncertain pathogenic Recessive, Homozygous | 0.23656 | This is a common variant of BRCA2 (HapMap allele frequency of 23%). The variant is weakly associated with an increased chance of breast cancer, and zygosity of the variant is associated with sex of children: male children are more likely to be homozygous for this variant, female children are more likely to be heterozygous. | 1 |
| 7 | TGIF1-P83Shift | Low | Uncertain | Uncertain pathogenic Complex/Other, Heterozygous | 0.138889 | Severe variants in this gene are associated with holoprosencephaly disorders when combined with loss-of-function variants in SHH. Haploinsufficiency was identified in some families with this condition. It is unclear how likely this variant is to occur in combination with an SHH variant, or what phenotypic effect the variant would have on its own. | 1 |
| 8 | TP53-P72R | Low | Uncertain | Uncertain pathogenic Unknown, Homozygous | 0.627743 | This is a common variant was first reported as a polymorphism. It has since had mixed associations with cancer: Storey et al. conclude a 7x *increased* risk of HPV cancer for homozygotes vs hets, but Jones et al. find a 1.98x *decreased* risk for colorectal cancer. This variant may have significant impact on particular cancers, but it is unclear what effect it has on the overall burden of cancer. | 1 |
| 9 | WFS1-R611H | Low | Uncertain | Uncertain not reviewed Recessive, Carrier (Heterozygous) | 0.400446 | This nonsynonymous SNP is associated with Wolfram Syndrome (known as DIDMOAD), which is characterized by early-onset non-autoimmune diabetes mellitus, diabetes insipidus, optic atrophy, and deafness) and to adult Type Two Diabetes Mellitus. The WFS1 gene maps to chromosome 4p16.3. The variant has been shown to be statistically associated with type II diabetes in six UK studies and one study of Ashkenazi Jews (Sandhu, M., et al., Minton et al.). | 1 |
| 10 | CLEC7A-Y238X | Low | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | 0.0632088 | This variant has been found to impair homan mucosal antifungal defense and was implicated in vulvovaginal candidiasis and mucocutaneous infections in a Dutch family. | 1 |
| 11 | 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 |
| 12 | ABCC6-R1268Q | Low | Uncertain | Uncertain pharmacogenetic Unknown, Heterozygous | 0.218907 | This common polymorphism appears to not have a significant phenotypic impact. A few studies report weak but significant associations with plasma lipids (in Inuits) and thalidomide toxicity. | 1 |
| 13 | FUT2-W154X | Moderate | Well-established | Well-established protective Recessive, Homozygous | 0.490519 | This recessive protective variant confers resistance to norovirus (which causes stomach flu). 20% of Caucasians and Africans are homozygous for this variant and are "non-secretors": they do not express ABO blood type antigens in their saliva or mucosal surfaces. Most strains of norovirus bind to these antigens in the gut, and so this non-secretor status confers almost total resistantance to most types of norovirus. There are notable exceptions, some strains of norovirus bind a different target and are equally infectious for secretors and non-secretors. | 1 |
| 14 | 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 |
| 15 | NPC1-H215R | Low | Likely | Likely protective Complex/Other, Heterozygous | 0.295687 | This variant is associated with a reduced risk of obesity, with an additive effect of -0.084 BMI per allele (an average of 0.54 pounds less, per allele, in a 5'6" individual). | 1 |
| 16 | CFH-V62I | Low | Likely | Likely protective Complex/Other, Heterozygous | 0.391616 | Associated with a decreased risk for age related macular degeneration (ARMD). Homozygotes for this have a 4-5% decreased attributable risk (3-4% vs. average 8% risk), heterozygotes have slightly lower than average risk (7%). Non-carriers have an increased risk (12-13%). ARMD impairs sharp vision as age progresses. While there is no cure, treatment can slow progression of the disease and environmental factors (smoking and obesity) contribute to higher risk. | 1 |
| 17 | IL7R-T244I | Low | Likely | Likely protective Unknown, Homozygous | 0.210169 | The reference genome variant for this allele has been associated with a slight increased risk of multiple sclerosis. Thus, this variant can be treated as a "protective" variant -- carriers of this variant are slightly less likely to have MS. Because the disease is rare and the effect of this variant is not very strong, the absolute decreased risk for carriers of this variant is less than .05% (less than 1 in 2000). | 1 |
| 18 | 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 |
| 19 | TOR1A-D216H | Low | Likely | Likely protective Unknown, Homozygous | 0.102993 | This SNP has been shown to be benign and play a protective role against Dystonia. | 1 |
| 20 | MTR-D919G | Low | Uncertain | Uncertain protective Complex/Other, Heterozygous | 0.217234 | This variant was weakly associated with a protective effect vs. colorectal cancer, but only in individuals with low alcohol consumption. | 1 |
| 21 | IRS2-G1057D | Low | Uncertain | Uncertain protective Unknown, Heterozygous | 0.232615 | a.k.a Gly1057Asp, insulin receptor substrate-2 IRS2. The rs1805097(G) allele is associated with the Gly, and the (A) allele with Asp. A longevity study concluded that rs1805097(A;A) individuals were about twice as likely to live over 85 y/o (odds ratio 2.03, CI:1.39-2.99, p = .0003). | 1 |
| 22 | TYR-R402Q | Low | Well-established | Well-established benign Complex/Other, Heterozygous | 0.204964 | This is a frequent pigmentation polymorphism in Europeans that affects function of the Tyrosinase gene. It is associated with blue instead of green eyes and sun sensitivity. For the most part this variant is benign, but many individuals with ocular albinism (which affects only the eyes) carry this variant along with another more severe variant in the same gene. | 1 |
| 23 | 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 |
| 24 | HTRA2-A141S | Low | Likely | Likely benign Unknown, Heterozygous | 0.016814 | Probably benign. One report proposed an association with increased risk for Parkinson's disease, but had very weak statistical significance. A later study found an equal incidence of this variant in cases and controls, contradicting any association with the disease. | 1 |
| 25 | OCA2-R419Q | Low | Likely | Likely benign Unknown, Heterozygous | 0.0565161 | This variant is associated with eye color, as is OCA2 R305W. Individuals with this variant are reported to be more likely to have green/hazel eyes as opposed to blue/gray eyes. Other variants in this gene are associated with oculocutaneous albinism (albinism which involves skin and eyes). | 1 |
| 26 | MLH1-I219V | Low | Uncertain | Uncertain benign Dominant, Homozygous | 0.239822 | Computational evidence, functional assays, and case/control studies suggest this variant is probably benign. | 1 |
| 27 | FAH-R341W | Low | Uncertain | Uncertain benign Recessive, Carrier (Heterozygous) | 0.0172895 | This variant shows pseudodeficiency for production of FAH protein which is connected with hereditary tyrosinemia type I. Pseudodeficiency was confirmed with site-directed mutagenesis and expression in a rabbit reticulocyte lysate system. The allelic frequency in 516 Norwegian controls was 0.022. | 1 |
| 28 | APOB-Y1422C | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.999628 | This position is almost certainly an error in the HG18 reference sequence. | 1 |
| 29 | ABCC11-G180R | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0976947 | This variant is associated with dry type ear wax (a benign trait) in a recessive manner. | 1 |
| 30 | OTOF-R822W | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0180678 | Rare variant, reported as a polymorphism also found in controls. Other severe variants in this gene are reported to cause autosomal recessive non-syndromic deafness. | 1 |
| 31 | RP1-N985Y | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.348671 | Probably benign. One report linked this variant to high triglycerides, but a later paper found a nearby SNP with similar association and suggests that both findings are caused by linkage to an undiscovered causal variant. | 1 |
| 32 | TAS2R38-I296V | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.463376 | This variant is associated with "taster" status of PTC, along with 49P and 262A. Due to linkage disequilibrium, the independent effects of positions 296 and 262 is unclear. The presence of 49P confers taster status in a dominant fashion, but in the absence of 49P, the presence of 262A/296V is still positively associated with tasting PTC. | 1 |
| 33 | PKP2-L366P | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.221231 | This variant is a benign polymorphism. | 1 |
| 34 | PCSK9-G670E | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.888269 | This variant is likely benign. | 1 |
| 35 | MAPT-R370W | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.155549 | Probably benign. | 1 |
| 36 | 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 |
| 37 | TPCN2-G734E | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.286166 | Pigmentation allele. | 1 |
| 38 | 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 |
| Row number | Variant | Prioritization score | Allele freq | Num of articles | Zygosity and Prioritization Score Reasons | Sufficient |
|---|
Exome coverage: 32921677 / 33282720 = 98.92%
| Row number | Gene | Chromosome | Coverage | Missing | Length | Missing regions |
|---|---|---|---|---|---|---|
| 1 | AGRN | 1 | 0.94965786901271 | 309 | 6138 | 955553-955624, 955630-955665, 955686-955720, 976229, 976688, 981889, 981928, 981931-981934, 981977, 983506-983509, 983517, 983594-983745 |
| 2 | GABRD | 1 | 0.96026490066225 | 54 | 1359 | 1950863-1950916 |
| 3 | ESPN | 1 | 0.90955165692008 | 232 | 2565 | 6488386-6488392, 6488426-6488432, 6500416, 6500472, 6500705-6500717, 6500741-6500765, 6500839-6500868, 6501029-6501065, 6505732-6505738, 6505776-6505820, 6505851-6505858, 6505892-6505921, 6508828-6508834, 6512127-6512133, 6517286-6517292 |
| 4 | PLEKHG5 | 1 | 0.97365945437441 | 84 | 3189 | 6528090-6528091, 6528098, 6530899, 6534108, 6534124-6534126, 6534129-6534133, 6534137-6534147, 6534151, 6534158, 6534213-6534216, 6534511-6534563, 6534592 |
| 5 | KIF1B | 1 | 0.99924712968191 | 4 | 5313 | 10425584-10425587 |
| 6 | TARDBP | 1 | 0.99437751004016 | 7 | 1245 | 11082396-11082402 |
| 7 | CLCNKA | 1 | 0.99321705426357 | 14 | 2064 | 16358268-16358274, 16360141-16360147 |
| 8 | CLCNKB | 1 | 0.99273255813953 | 15 | 2064 | 16373044-16373050, 16383398-16383405 |
| 9 | ATP13A2 | 1 | 0.99830651989839 | 6 | 3543 | 17322611-17322616 |
| 10 | ALPL | 1 | 0.99936507936508 | 1 | 1575 | 21903919 |
| 11 | HSPG2 | 1 | 0.99521857923497 | 63 | 13176 | 22263648-22263710 |
| 12 | WNT4 | 1 | 0.92708333333333 | 77 | 1056 | 22469339-22469415 |
| 13 | LDLRAP1 | 1 | 0.99568500539374 | 4 | 927 | 25870205-25870208 |
| 14 | SEPN1 | 1 | 0.89028776978417 | 183 | 1668 | 26126722-26126904 |
| 15 | KCNQ4 | 1 | 0.99329501915709 | 14 | 2088 | 41249766-41249779 |
| 16 | DHCR24 | 1 | 0.99871050934881 | 2 | 1551 | 55352596, 55352601 |
| 17 | PCSK9 | 1 | 0.98508898508899 | 31 | 2079 | 55505549-55505579 |
| 18 | LEPR | 1 | 0.99771297884505 | 8 | 3498 | 66036257-66036264 |
| 19 | DPYD | 1 | 0.98960363872645 | 32 | 3078 | 97847949-97847958, 97847996-97848017 |
| 20 | AGL | 1 | 0.9997825614264 | 1 | 4599 | 100336322 |
| 21 | DBT | 1 | 0.99930986887509 | 1 | 1449 | 100701067 |
| 22 | COL11A1 | 1 | 0.97562763423126 | 133 | 5457 | 103364222-103364325, 103364545-103364550, 103388943-103388945, 103412472, 103427780, 103435775-103435776, 103435780, 103435825-103435828, 103449738-103449747, 103461553 |
| 23 | GSTM1 | 1 | 0.42313546423135 | 379 | 657 | 110230496-110230531, 110230792-110230819, 110230839, 110230850-110230867, 110231295-110231307, 110231312-110231315, 110231708-110231711, 110231714, 110231721, 110231724, 110231735-110231740, 110231847-110231947, 110232895-110232905, 110232908-110232910, 110232913, 110232929-110232934, 110232940-110232941, 110232944-110232945, 110232952-110232988, 110233076-110233178 |
| 24 | NOTCH2 | 1 | 0.97397518878101 | 193 | 7416 | 120458189-120458200, 120539665-120539714, 120539739-120539784, 120539913-120539939, 120548051, 120548091-120548097, 120572544-120572575, 120572609-120572610, 120611957-120611967, 120612003-120612004, 120612006, 120612013-120612014 |
| 25 | FLG | 1 | 0.99860495650747 | 17 | 12186 | 152276671, 152278049, 152278434, 152279403-152279409, 152281155-152281161 |
| 26 | LMNA | 1 | 0.99899749373434 | 2 | 1995 | 156100557, 156100560 |
| 27 | NTRK1 | 1 | 0.9857800083647 | 34 | 2391 | 156830727-156830760 |
| 28 | MPZ | 1 | 0.97683397683398 | 18 | 777 | 161276149, 161276156-161276157, 161276168-161276178, 161276183, 161276186-161276188 |
| 29 | TBX19 | 1 | 0.9985152190052 | 2 | 1347 | 168274313-168274314 |
| 30 | F5 | 1 | 0.97962546816479 | 136 | 6675 | 169510269-169510296, 169510364-169510370, 169510377-169510434, 169510499-169510527, 169510634-169510640, 169511618-169511624 |
| 31 | FMO3 | 1 | 0.99562226391495 | 7 | 1599 | 171077340-171077346 |
| 32 | PDC | 1 | 0.95411605937922 | 34 | 741 | 186418537-186418570 |
| 33 | CFH | 1 | 0.98728354978355 | 47 | 3696 | 196658703, 196658738, 196682865, 196706713, 196716353-196716395 |
| 34 | CFHR1 | 1 | 0.99798590130916 | 2 | 993 | 196801042, 196801078 |
| 35 | ASPM | 1 | 0.99654974123059 | 36 | 10434 | 197104270, 197113149-197113150, 197113160-197113192 |
| 36 | TNNT2 | 1 | 0.99887387387387 | 1 | 888 | 201333449 |
| 37 | USH2A | 1 | 0.99878275353962 | 19 | 15609 | 215916532-215916535, 215916553-215916554, 216061856-216061864, 216496864-216496867 |
| 38 | GJC2 | 1 | 0.87272727272727 | 168 | 1320 | 228345685-228345686, 228345698-228345700, 228345706, 228345788, 228346069-228346070, 228346075, 228346087-228346100, 228346106-228346111, 228346120, 228346138, 228346145, 228346149-228346151, 228346240, 228346255, 228346258, 228346334-228346436, 228346446, 228346478, 228346637-228346660 |
| 39 | ACTA1 | 1 | 0.99382716049383 | 7 | 1134 | 229567854-229567860 |
| 40 | LYST | 1 | 0.99517797650359 | 55 | 11406 | 235875415, 235875440, 235875444-235875456, 235875461, 235875488, 235922675-235922688, 235944242, 235969207, 235972244-235972252, 235973059-235973071 |
| 41 | RYR2 | 1 | 0.99677938808374 | 48 | 14904 | 237494212-237494220, 237656278, 237821244-237821275, 237823285, 237838061-237838063, 237881770, 237881789 |
| 42 | FH | 1 | 0.99934768427919 | 1 | 1533 | 241663890 |
| 43 | DCLRE1C | 10 | 0.996632996633 | 7 | 2079 | 14981847-14981853 |
| 44 | CUBN | 10 | 0.99944812362031 | 6 | 10872 | 17085882, 17085898, 17085940, 17142045, 17142048-17142049 |
| 45 | MYO3A | 10 | 0.99979385693671 | 1 | 4851 | 26385566 |
| 46 | PDSS1 | 10 | 0.99919871794872 | 1 | 1248 | 26994298 |
| 47 | RET | 10 | 0.97817638266069 | 73 | 3345 | 43572707-43572779 |
| 48 | ERCC6 | 10 | 0.99732262382865 | 12 | 4482 | 50736552-50736563 |
| 49 | CHAT | 10 | 0.9190031152648 | 182 | 2247 | 50822250-50822431 |
| 50 | PCDH15 | 10 | 0.99983019188317 | 1 | 5889 | 55587212 |
| 51 | EGR2 | 10 | 0.99930118798043 | 1 | 1431 | 64573340 |
| 52 | LDB3 | 10 | 0.99954212454212 | 1 | 2184 | 88476165 |
| 53 | BMPR1A | 10 | 0.99562226391495 | 7 | 1599 | 88683143-88683149 |
| 54 | PTEN | 10 | 0.9983498349835 | 2 | 1212 | 89690845-89690846 |
| 55 | HPS6 | 10 | 0.9995704467354 | 1 | 2328 | 103825283 |
| 56 | SUFU | 10 | 0.9979381443299 | 3 | 1455 | 104263988-104263989, 104263992 |
| 57 | COL17A1 | 10 | 0.99844236760125 | 7 | 4494 | 105811246-105811252 |
| 58 | EMX2 | 10 | 0.96442687747036 | 27 | 759 | 119302934-119302960 |
| 59 | HTRA1 | 10 | 0.92654192654193 | 106 | 1443 | 124221169-124221254, 124221286-124221292, 124221300-124221310, 124221466, 124221519 |
| 60 | SLC25A22 | 11 | 0.99382716049383 | 6 | 972 | 792632, 792654, 792680-792683 |
| 61 | PNPLA2 | 11 | 0.9973597359736 | 4 | 1515 | 819881-819884 |
| 62 | CTSD | 11 | 0.99031476997579 | 12 | 1239 | 1785066-1785077 |
| 63 | TH | 11 | 0.99555555555556 | 7 | 1575 | 2191923, 2191949-2191950, 2191954-2191956, 2191977 |
| 64 | KCNQ1 | 11 | 0.99950763170852 | 1 | 2031 | 2466329 |
| 65 | CDKN1C | 11 | 0.72660357518402 | 260 | 951 | 2905938-2905940, 2905944-2905956, 2905961, 2905969-2905971, 2905981, 2906048, 2906063-2906066, 2906080-2906148, 2906156-2906255, 2906312-2906314, 2906324-2906325, 2906382-2906391, 2906408-2906457 |
| 66 | SMPD1 | 11 | 0.99947257383966 | 1 | 1896 | 6411935 |
| 67 | USH1C | 11 | 0.98925925925926 | 29 | 2700 | 17531174-17531183, 17531296-17531297, 17531308-17531324 |
| 68 | ANO5 | 11 | 0.97228300510576 | 76 | 2742 | 22249057-22249063, 22276974, 22276983-22276985, 22276989, 22276997-22277001, 22277003, 22277007-22277013, 22277018-22277068 |
| 69 | WT1 | 11 | 0.998712998713 | 2 | 1554 | 32456745, 32456756 |
| 70 | RAG1 | 11 | 0.99872286079183 | 4 | 3132 | 36594855, 36594894, 36594905-36594906 |
| 71 | SLC35C1 | 11 | 0.99905303030303 | 1 | 1056 | 45827806 |
| 72 | MADD | 11 | 0.99838187702265 | 8 | 4944 | 47336809-47336816 |
| 73 | RAPSN | 11 | 0.99919289749798 | 1 | 1239 | 47469656 |
| 74 | SERPING1 | 11 | 0.99467731204258 | 8 | 1503 | 57365754, 57365759-57365761, 57365770-57365773 |
| 75 | GIF | 11 | 0.99840510366826 | 2 | 1254 | 59599151-59599152 |
| 76 | SLC22A12 | 11 | 0.99759326113117 | 4 | 1662 | 64367257, 64367264, 64367275, 64367278 |
| 77 | SPTBN2 | 11 | 0.9998605883173 | 1 | 7173 | 66460721 |
| 78 | PC | 11 | 0.99660729431722 | 12 | 3537 | 66618367-66618377, 66633700 |
| 79 | AIP | 11 | 0.99597180261833 | 4 | 993 | 67257559-67257562 |
| 80 | TCIRG1 | 11 | 0.99959887685519 | 1 | 2493 | 67810275 |
| 81 | LRP5 | 11 | 0.9950495049505 | 24 | 4848 | 68080183-68080201, 68080209-68080210, 68080215-68080217 |
| 82 | DHCR7 | 11 | 0.9859943977591 | 20 | 1428 | 71146573-71146584, 71146594-71146601 |
| 83 | MYO7A | 11 | 0.9996991576414 | 2 | 6648 | 76922292-76922293 |
| 84 | MTMR2 | 11 | 0.99896480331263 | 2 | 1932 | 95657105, 95657111 |
| 85 | DYNC2H1 | 11 | 0.99490150637312 | 66 | 12945 | 102984308, 102984314, 102984319-102984321, 102984327, 102991503, 102991519-102991522, 103029406-103029408, 103029413, 103043811-103043835, 103044024-103044034, 103059235-103059242, 103059251, 103059254, 103062880, 103062891-103062892, 103082558, 103093700 |
| 86 | ACAT1 | 11 | 0.99454828660436 | 7 | 1284 | 107992343-107992349 |
| 87 | ATM | 11 | 0.99160396903282 | 77 | 9171 | 108098518, 108126966, 108126977-108127012, 108127021, 108127031-108127067, 108196229 |
| 88 | ALG9 | 11 | 0.99945533769063 | 1 | 1836 | 111657244 |
| 89 | DLAT | 11 | 0.99485596707819 | 10 | 1944 | 111909973-111909982 |
| 90 | WNK1 | 12 | 0.99692264652399 | 22 | 7149 | 968530-968533, 970293-970310 |
| 91 | CACNA1C | 12 | 0.99268404206676 | 48 | 6561 | 2622069-2622072, 2622078-2622079, 2794934-2794940, 2795336-2795370 |
| 92 | VWF | 12 | 0.98519308220801 | 125 | 8442 | 6125338-6125344, 6127655-6127661, 6128339-6128345, 6128443, 6128449-6128451, 6128476-6128508, 6131925-6131932, 6131955-6131982, 6132003-6132033 |
| 93 | TPI1 | 12 | 0.99466666666667 | 4 | 750 | 6976731-6976734 |
| 94 | ATN1 | 12 | 0.98096837391548 | 68 | 3573 | 7045599-7045611, 7045888-7045942 |
| 95 | GYS2 | 12 | 0.99337121212121 | 14 | 2112 | 21712030-21712035, 21712050, 21712059-21712065 |
| 96 | KRAS | 12 | 0.98771929824561 | 7 | 570 | 25380212-25380218 |
| 97 | DNM1L | 12 | 0.99909543193125 | 2 | 2211 | 32861087-32861088 |
| 98 | KIF21A | 12 | 0.99959887685519 | 2 | 4986 | 39761833-39761834 |
| 99 | LRRK2 | 12 | 0.9957805907173 | 32 | 7584 | 40643739, 40645123, 40761489, 40761493-40761494, 40761505-40761526, 40761530-40761534 |
| 100 | VDR | 12 | 0.99221183800623 | 10 | 1284 | 48251299-48251308 |
| 101 | MLL2 | 12 | 0.99981942939689 | 3 | 16614 | 49424131, 49426932, 49427670 |
| 102 | TUBA1A | 12 | 0.96271929824561 | 17 | 456 | 49522195-49522211 |
| 103 | ACVRL1 | 12 | 0.99007936507937 | 15 | 1512 | 52312861-52312875 |
| 104 | KRT81 | 12 | 0.99275362318841 | 11 | 1518 | 52684020-52684029, 52685096 |
| 105 | KRT86 | 12 | 0.97125256673511 | 42 | 1461 | 52695851-52695857, 52696925-52696934, 52699030-52699047, 52699545-52699551 |
| 106 | KRT6B | 12 | 0.95693215339233 | 73 | 1695 | 52844243, 52844246, 52844265, 52845397-52845410, 52845528-52845534, 52845598-52845604, 52845662-52845687, 52845713-52845719, 52845797-52845805 |
| 107 | KRT6C | 12 | 0.90914454277286 | 154 | 1695 | 52865900-52865928, 52866060, 52867056-52867069, 52867091-52867136, 52867187-52867193, 52867257-52867263, 52867321-52867346, 52867456-52867479 |
| 108 | KRT6A | 12 | 0.94513274336283 | 93 | 1695 | 52881868-52881874, 52885494-52885499, 52885502-52885504, 52886478, 52886490, 52886553-52886581, 52886638-52886644, 52886708-52886714, 52886772-52886796, 52886908-52886914 |
| 109 | KRT5 | 12 | 0.99323181049069 | 12 | 1773 | 52908850, 52908856, 52908859-52908868 |
| 110 | KRT1 | 12 | 0.94780361757106 | 101 | 1935 | 53069220-53069271, 53069289-53069327, 53072485, 53072488, 53072509-53072513, 53072517-53072518, 53073950 |
| 111 | AAAS | 12 | 0.9981718464351 | 3 | 1641 | 53715140-53715141, 53715144 |
| 112 | LEMD3 | 12 | 0.99049707602339 | 26 | 2736 | 65612344-65612349, 65612355, 65612359-65612364, 65612376-65612388 |
| 113 | CEP290 | 12 | 0.99274193548387 | 54 | 7440 | 88444183-88444196, 88472956, 88481557-88481559, 88483172-88483176, 88487547-88487549, 88505471-88505480, 88505520, 88505536, 88519072-88519077, 88523502, 88530507, 88535040-88535047 |
| 114 | MYL2 | 12 | 0.9940119760479 | 3 | 501 | 111348906-111348907, 111348912 |
| 115 | ATXN2 | 12 | 0.95484525621512 | 178 | 3942 | 112036700, 112036719, 112036722, 112036728, 112036732, 112036746-112036822, 112036897-112036898, 112036908, 112036913, 112036918-112036921, 112036935-112036936, 112036939-112036967, 112036974-112036983, 112036996, 112037000-112037004, 112037010-112037011, 112037015-112037049, 112037051-112037052, 112037062-112037063 |
| 116 | SACS | 13 | 0.99992721979622 | 1 | 13740 | 23908620 |
| 117 | FREM2 | 13 | 0.99705573080967 | 28 | 9510 | 39261565-39261592 |
| 118 | SUCLA2 | 13 | 0.99209770114943 | 11 | 1392 | 48528337-48528340, 48571054-48571060 |
| 119 | RB1 | 13 | 0.9989235737352 | 3 | 2787 | 48942697-48942699 |
| 120 | SLITRK1 | 13 | 0.99856527977044 | 3 | 2091 | 84453765-84453767 |
| 121 | ZIC2 | 13 | 0.94183864915572 | 93 | 1599 | 100634399-100634400, 100635008-100635010, 100637703-100637727, 100637732-100637742, 100637745-100637746, 100637752, 100637791, 100637801-100637810, 100637824-100637849, 100637855-100637859, 100637925-100637931 |
| 122 | RPGRIP1 | 14 | 0.996891996892 | 12 | 3861 | 21785974-21785985 |
| 123 | PABPN1 | 14 | 0.79587404994571 | 188 | 921 | 23790718, 23790734, 23790737-23790738, 23790776-23790811, 23790846-23790848, 23790865-23790903, 23790911-23791013, 23791027-23791029 |
| 124 | PCK2 | 14 | 0.99895995839834 | 2 | 1923 | 24568258-24568259 |
| 125 | FOXG1 | 14 | 0.79591836734694 | 300 | 1470 | 29236557-29236572, 29236624-29236629, 29236656, 29236674-29236950 |
| 126 | FANCM | 14 | 0.99251667480072 | 46 | 6147 | 45623921-45623941, 45623950-45623954, 45623965, 45623979-45623982, 45623988-45623994, 45624000, 45624004-45624006, 45650727, 45667847-45667848, 45667889 |
| 127 | C14orf104 | 14 | 0.99920445505171 | 2 | 2514 | 50101356, 50101370 |
| 128 | SYNE2 | 14 | 0.99773209805057 | 47 | 20724 | 64447753-64447769, 64457693-64457699, 64461796-64461808, 64483272, 64522752, 64522799-64522801, 64522818-64522821, 64522827 |
| 129 | VSX2 | 14 | 0.99447513812155 | 6 | 1086 | 74706472-74706477 |
| 130 | EIF2B2 | 14 | 0.99242424242424 | 8 | 1056 | 75471570-75471577 |
| 131 | ESRRB | 14 | 0.99672560576293 | 5 | 1527 | 76964700-76964704 |
| 132 | ATXN3 | 14 | 0.97605893186004 | 26 | 1086 | 92537354, 92537366-92537370, 92559635-92559636, 92559645-92559662 |
| 133 | VRK1 | 14 | 0.9983207388749 | 2 | 1191 | 97304139-97304140 |
| 134 | AMN | 14 | 0.9985315712188 | 2 | 1362 | 103397016-103397017 |
| 135 | INF2 | 14 | 0.9168 | 312 | 3750 | 105173761-105173762, 105173765-105173768, 105173859-105174157, 105174180, 105174183-105174187, 105174300 |
| 136 | NIPA1 | 15 | 0.82020202020202 | 178 | 990 | 23086234-23086411 |
| 137 | UBE3A | 15 | 0.97374429223744 | 69 | 2628 | 25616251-25616271, 25616300-25616306, 25616620-25616626, 25616834-25616867 |
| 138 | TRPM1 | 15 | 0.99958437240233 | 2 | 4812 | 31320614, 31320617 |
| 139 | SPRED1 | 15 | 0.99850187265918 | 2 | 1335 | 38614476, 38614480 |
| 140 | CHST14 | 15 | 0.90185676392573 | 111 | 1131 | 40763418-40763458, 40763465-40763534 |
| 141 | STRC | 15 | 0.98179429429429 | 97 | 5328 | 43897544-43897560, 43900116-43900135, 43906456-43906463, 43910863-43910914 |
| 142 | CEP152 | 15 | 0.99939577039275 | 3 | 4965 | 49036517-49036519 |
| 143 | HCN4 | 15 | 0.99003322259136 | 36 | 3612 | 73614897-73614898, 73616150, 73616164-73616169, 73659860-73659863, 73660104-73660125, 73660360 |
| 144 | FANCI | 15 | 0.99924755455229 | 3 | 3987 | 89828366-89828368 |
| 145 | POLG | 15 | 0.99677419354839 | 12 | 3720 | 89876828-89876839 |
| 146 | MESP2 | 15 | 0.9891122278057 | 13 | 1194 | 90320135-90320146, 90320161 |
| 147 | BLM | 15 | 0.99106723084156 | 38 | 4254 | 91337406, 91337413-91337416, 91337425, 91337502, 91337545-91337575 |
| 148 | VPS33B | 15 | 0.99892125134844 | 2 | 1854 | 91542217-91542218 |
| 149 | HBZ | 16 | 0.92074592074592 | 34 | 429 | 203963, 203969, 204002-204004, 204271-204272, 204275-204285, 204299-204305, 204315-204322, 204329 |
| 150 | GFER | 16 | 0.95954692556634 | 25 | 618 | 2034344-2034368 |
| 151 | PKD1 | 16 | 0.91875774473358 | 1049 | 12912 | 2140975, 2140983-2140984, 2141160-2141162, 2141167-2141168, 2141171-2141175, 2141508, 2141512, 2147949, 2149862-2149879, 2149962-2149968, 2150245-2150284, 2150447-2150484, 2152126-2152132, 2152168-2152185, 2152242-2152257, 2152567-2152573, 2152605-2152611, 2152815-2152816, 2152896-2152928, 2152965-2152971, 2153499-2153505, 2153542-2153576, 2153703-2153727, 2153755-2153770, 2153868-2153874, 2154547-2154576, 2155423-2155429, 2155875-2155912, 2155981-2156024, 2156241-2156268, 2156427-2156448, 2156806-2156816, 2156901-2156907, 2158350-2158392, 2159144-2159150, 2159313-2159319, 2159479-2159481, 2159577-2159584, 2159712-2159718, 2160134-2160140, 2160721, 2160732, 2160769-2160775, 2162431-2162469, 2162914-2162922, 2163162-2163185, 2164208-2164214, 2164371-2164409, 2164460-2164493, 2164804-2164838, 2164911-2164917, 2165384-2165398, 2165501-2165507, 2166567, 2166915-2166921, 2166976-2167001, 2167870-2167878, 2167969-2168000, 2168035-2168075, 2168127-2168150, 2168190-2168215, 2168254-2168296, 2168315-2168321, 2169115, 2185569, 2185594-2185595, 2185662-2185690 |
| 152 | SLX4 | 16 | 0.99963669391462 | 2 | 5505 | 3652219, 3652222 |
| 153 | CREBBP | 16 | 0.99945422294992 | 4 | 7329 | 3778444, 3778450-3778451, 3779445 |
| 154 | ALG1 | 16 | 0.94623655913978 | 75 | 1395 | 5127987-5127993, 5128835-5128862, 5130969-5130999, 5132563-5132569, 5132603, 5132636 |
| 155 | ABCC6 | 16 | 0.98692375886525 | 59 | 4512 | 16313509-16313515, 16315540-16315546, 16315576-16315593, 16315657-16315683 |
| 156 | UMOD | 16 | 0.98803952158086 | 23 | 1923 | 20360107-20360125, 20360132-20360135 |
| 157 | OTOA | 16 | 0.99795321637427 | 7 | 3420 | 21742176-21742182 |
| 158 | OTOA | 16 | 0.99799196787149 | 2 | 996 | 22587945, 22587948 |
| 159 | CLN3 | 16 | 0.9916476841306 | 11 | 1317 | 28497672-28497673, 28497681-28497682, 28497686-28497692 |
| 160 | PHKG2 | 16 | 0.93447993447993 | 80 | 1221 | 30760142-30760221 |
| 161 | FUS | 16 | 0.99746995572423 | 4 | 1581 | 31195303-31195306 |
| 162 | PHKB | 16 | 0.99878123095673 | 4 | 3282 | 47722991-47722994 |
| 163 | NOD2 | 16 | 0.99743836055075 | 8 | 3123 | 50745342-50745349 |
| 164 | CYLD | 16 | 0.99965059399022 | 1 | 2862 | 50825470 |
| 165 | SALL1 | 16 | 0.99622641509434 | 15 | 3975 | 51175641-51175642, 51175645-51175646, 51175656-51175658, 51175670-51175677 |
| 166 | RPGRIP1L | 16 | 0.99974670719352 | 1 | 3948 | 53691484 |
| 167 | HSD11B2 | 16 | 0.97208538587849 | 34 | 1218 | 67465197, 67465207-67465208, 67465211-67465215, 67465223-67465229, 67465264, 67465268-67465275, 67465278-67465282, 67470029-67470032, 67470044 |
| 168 | LCAT | 16 | 0.99924414210128 | 1 | 1323 | 67973975 |
| 169 | CDH1 | 16 | 0.99773499433749 | 6 | 2649 | 68771347-68771352 |
| 170 | COG8 | 16 | 0.9994562262099 | 1 | 1839 | 69368840 |
| 171 | HP | 16 | 0.94430794430794 | 68 | 1221 | 72092153-72092178, 72092196-72092233, 72093017, 72093029-72093030, 72093033 |
| 172 | GAN | 16 | 0.99944258639911 | 1 | 1794 | 81388211 |
| 173 | MLYCD | 16 | 0.95344129554656 | 69 | 1482 | 83932826-83932827, 83932860-83932862, 83932873-83932880, 83932883-83932886, 83932931-83932937, 83932979-83933012, 83933086, 83933099-83933100, 83933107, 83933138-83933144 |
| 174 | FOXC2 | 16 | 0.99933598937583 | 1 | 1506 | 86601671 |
| 175 | GALNS | 16 | 0.98534098151689 | 23 | 1569 | 88923227-88923249 |
| 176 | SPG7 | 16 | 0.99497487437186 | 12 | 2388 | 89579413-89579424 |
| 177 | FANCA | 16 | 0.99862637362637 | 6 | 4368 | 89842206, 89842212-89842216 |
| 178 | TUBB3 | 16 | 0.99852180339985 | 2 | 1353 | 90001788-90001789 |
| 179 | CHRNE | 17 | 0.9919028340081 | 12 | 1482 | 4806333-4806344 |
| 180 | PITPNM3 | 17 | 0.99521367521368 | 14 | 2925 | 6358682-6358690, 6358791, 6358796-6358799 |
| 181 | GUCY2D | 17 | 0.99667874396135 | 11 | 3312 | 7906366, 7906369-7906372, 7906375-7906380 |
| 182 | ALOXE3 | 17 | 0.99906367041199 | 2 | 2136 | 8013735, 8013738 |
| 183 | HES7 | 17 | 0.98967551622419 | 7 | 678 | 8025004-8025007, 8025663, 8025667-8025668 |
| 184 | ELAC2 | 17 | 0.99959693671906 | 1 | 2481 | 12896189 |
| 185 | COX10 | 17 | 0.99474474474474 | 7 | 1332 | 14095345-14095351 |
| 186 | RAI1 | 17 | 0.99720328613879 | 16 | 5721 | 17696457, 17697103-17697107, 17697121, 17698710-17698711, 17698720, 17698793-17698797, 17699630 |
| 187 | MYO15A | 17 | 0.99763995091098 | 25 | 10593 | 18023747, 18024033, 18024040, 18024140, 18024188, 18049320, 18049333-18049334, 18057091-18057097, 18057101-18057103, 18057107-18057108, 18057111-18057115 |
| 188 | UNC119 | 17 | 0.97233748271093 | 20 | 723 | 26879438-26879446, 26879451, 26879456-26879460, 26879497, 26879500-26879501, 26879518-26879519 |
| 189 | SLC6A4 | 17 | 0.99841521394612 | 3 | 1893 | 28538388-28538390 |
| 190 | NF1 | 17 | 0.98720657276995 | 109 | 8520 | 29422369-29422381, 29422386-29422387, 29548868-29548887, 29553678-29553693, 29556221-29556236, 29586050-29586089, 29586136, 29664859 |
| 191 | HNF1B | 17 | 0.99940262843489 | 1 | 1674 | 36104835 |
| 192 | KRT10 | 17 | 0.91566951566952 | 148 | 1755 | 38975101-38975220, 38975242-38975265, 38975295, 38975305, 38975323, 38975368 |
| 193 | KRT9 | 17 | 0.9957264957265 | 8 | 1872 | 39723882-39723889 |
| 194 | KRT14 | 17 | 0.99577167019027 | 6 | 1419 | 39741304-39741309 |
| 195 | KRT16 | 17 | 0.96694796061885 | 47 | 1422 | 39766265-39766281, 39766639, 39766647-39766648, 39767905-39767911, 39768740-39768759 |
| 196 | KRT17 | 17 | 0.99461123941493 | 7 | 1299 | 39777087-39777093 |
| 197 | STAT5B | 17 | 0.98477157360406 | 36 | 2364 | 40359697, 40371359-40371392, 40371442 |
| 198 | NAGLU | 17 | 0.99910394265233 | 2 | 2232 | 40688419, 40688544 |
| 199 | WNK4 | 17 | 0.9997320471597 | 1 | 3732 | 40932808 |
| 200 | PLEKHM1 | 17 | 0.9927467675812 | 23 | 3171 | 43516861-43516867, 43552534-43552540, 43552717, 43552871-43552877, 43552921 |
| 201 | MAPT | 17 | 0.999570999571 | 1 | 2331 | 44073816 |
| 202 | COL1A1 | 17 | 0.99726962457338 | 12 | 4395 | 48264472-48264483 |
| 203 | TRIM37 | 17 | 0.99965457685665 | 1 | 2895 | 57158525 |
| 204 | ACE | 17 | 0.99515429737312 | 19 | 3921 | 61554474-61554477, 61554482, 61554485-61554498 |
| 205 | AXIN2 | 17 | 0.99684044233807 | 8 | 2532 | 63531779-63531786 |
| 206 | COG1 | 17 | 0.99830105334692 | 5 | 2943 | 71189253-71189257 |
| 207 | ITGB4 | 17 | 0.99798866337539 | 11 | 5469 | 73749962-73749969, 73749972-73749974 |
| 208 | UNC13D | 17 | 0.99969446990529 | 1 | 3273 | 73832748 |
| 209 | SEPT9 | 17 | 0.92277115275412 | 136 | 1761 | 75494605-75494740 |
| 210 | SGSH | 17 | 0.99536116633532 | 7 | 1509 | 78194051-78194057 |
| 211 | TTR | 18 | 0.9954954954955 | 2 | 444 | 29178583-29178584 |
| 212 | MYO5B | 18 | 0.99332972778078 | 37 | 5547 | 47352944-47352980 |
| 213 | ATP8B1 | 18 | 0.99574014909478 | 16 | 3756 | 55398954-55398969 |
| 214 | LMAN1 | 18 | 0.99543378995434 | 7 | 1533 | 57000455-57000461 |
| 215 | TNFRSF11A | 18 | 0.99621826039978 | 7 | 1851 | 59992606-59992612 |
| 216 | CTDP1 | 18 | 0.999306999307 | 2 | 2886 | 77439996, 77474922 |
| 217 | ELANE | 19 | 0.86567164179104 | 108 | 804 | 853262-853364, 853373-853376, 853402 |
| 218 | KISS1R | 19 | 0.97911445279866 | 25 | 1197 | 920300-920306, 920321-920330, 920376, 920707, 920729, 920737-920741 |
| 219 | MAP2K2 | 19 | 0.92352452202826 | 92 | 1203 | 4123781-4123872 |
| 220 | C3 | 19 | 0.99979967948718 | 1 | 4992 | 6713518 |
| 221 | MCOLN1 | 19 | 0.99942627653471 | 1 | 1743 | 7598425 |
| 222 | PRKCSH | 19 | 0.99621928166352 | 6 | 1587 | 11558341-11558346 |
| 223 | CACNA1A | 19 | 0.98497540220715 | 113 | 7521 | 13318559-13318578, 13318668, 13318671-13318690, 13318699-13318706, 13318717-13318723, 13318773-13318815, 13318858-13318867, 13319692-13319694, 13616948 |
| 224 | NOTCH3 | 19 | 0.99440137812231 | 39 | 6966 | 15271896-15271899, 15271907-15271908, 15272209-15272211, 15311638-15311639, 15311644-15311649, 15311656-15311657, 15311679-15311680, 15311683-15311694, 15311702-15311707 |
| 225 | JAK3 | 19 | 0.99911111111111 | 3 | 3375 | 17940984-17940986 |
| 226 | SLC5A5 | 19 | 0.99741200828157 | 5 | 1932 | 17984975-17984977, 17984990-17984991 |
| 227 | COMP | 19 | 0.99956024626209 | 1 | 2274 | 18900764 |
| 228 | CEBPA | 19 | 0.94428969359331 | 60 | 1077 | 33792753, 33792767-33792769, 33792863, 33792916-33792919, 33792924, 33792989-33792990, 33793004-33793011, 33793015-33793024, 33793029, 33793033-33793035, 33793171-33793172, 33793182-33793189, 33793195, 33793200-33793214 |
| 229 | SCN1B | 19 | 0.95043370508055 | 40 | 807 | 35521725-35521764 |
| 230 | NPHS1 | 19 | 0.99838969404187 | 6 | 3726 | 36336620-36336623, 36342730-36342731 |
| 231 | RYR1 | 19 | 0.99358338294635 | 97 | 15117 | 38980897-38980899, 39055719-39055748, 39055777-39055813, 39055823, 39055875-39055896, 39055902-39055903, 39055912, 39055951 |
| 232 | ACTN4 | 19 | 0.99926900584795 | 2 | 2736 | 39216501-39216502 |
| 233 | DLL3 | 19 | 0.99784598815293 | 4 | 1857 | 39993572-39993575 |
| 234 | PRX | 19 | 0.98654810761514 | 59 | 4386 | 40901320-40901350, 40909652-40909664, 40909679, 40909688-40909692, 40909702-40909706, 40909720-40909723 |
| 235 | ATP1A3 | 19 | 0.99728113104948 | 10 | 3678 | 42471342, 42480568, 42480572-42480579 |
| 236 | BCAM | 19 | 0.98834128245893 | 22 | 1887 | 45312385-45312391, 45312399-45312409, 45315619-45315622 |
| 237 | DMPK | 19 | 0.9952380952381 | 9 | 1890 | 46285536, 46285539-46285541, 46285567-46285570, 46285610 |
| 238 | FKRP | 19 | 0.99260752688172 | 11 | 1488 | 47259157, 47259666-47259674, 47259679 |
| 239 | DBP | 19 | 0.98057259713701 | 19 | 978 | 49138840, 49138850-49138855, 49138860, 49138864-49138873, 49138947 |
| 240 | MED25 | 19 | 0.99777183600713 | 5 | 2244 | 50339526-50339530 |
| 241 | MYH14 | 19 | 0.9998363606611 | 1 | 6111 | 50770232 |
| 242 | KCNC3 | 19 | 0.8311345646438 | 384 | 2274 | 50823503-50823591, 50826294, 50826359-50826369, 50826387-50826432, 50826444, 50826448, 50826454-50826455, 50831523-50831529, 50831706, 50831709, 50831714, 50831722-50831723, 50831730-50831731, 50831897, 50831905-50831911, 50831942-50831971, 50831978-50831983, 50831993, 50832019-50832022, 50832025, 50832032-50832037, 50832147, 50832151-50832152, 50832156, 50832160, 50832182-50832339 |
| 243 | NLRP12 | 19 | 0.99717514124294 | 9 | 3186 | 54313200-54313201, 54313204, 54313882-54313887 |
| 244 | PRKCG | 19 | 0.98280802292264 | 36 | 2094 | 54385795-54385801, 54385812-54385813, 54385817-54385820, 54392967, 54393148-54393151, 54393194-54393199, 54393248-54393254, 54410083-54410087 |
| 245 | NLRP7 | 19 | 0.99967886962107 | 1 | 3114 | 55451038 |
| 246 | TNNT1 | 19 | 0.99873257287706 | 1 | 789 | 55658073 |
| 247 | TNNI3 | 19 | 0.99671592775041 | 2 | 609 | 55665494-55665495 |
| 248 | KLF11 | 2 | 0.99220272904483 | 12 | 1539 | 10183874-10183885 |
| 249 | APOB | 2 | 0.99934268185802 | 9 | 13692 | 21266775-21266783 |
| 250 | OTOF | 2 | 0.99099099099099 | 54 | 5994 | 26699759-26699765, 26699775-26699801, 26699809-26699810, 26699858, 26699862-26699865, 26699889-26699890, 26699894, 26699901-26699904, 26700120, 26700139-26700143 |
| 251 | EIF2B4 | 2 | 0.99938725490196 | 1 | 1632 | 27592325 |
| 252 | ALK | 2 | 0.99938309685379 | 3 | 4863 | 29451757-29451759 |
| 253 | SPAST | 2 | 0.87898433279308 | 224 | 1851 | 32289003-32289039, 32289074-32289086, 32289092-32289265 |
| 254 | CYP1B1 | 2 | 0.99571078431373 | 7 | 1632 | 38302200-38302206 |
| 255 | LRPPRC | 2 | 0.99832735961768 | 7 | 4185 | 44222949-44222955 |
| 256 | MSH6 | 2 | 0.99412196914034 | 24 | 4083 | 48010417-48010423, 48010458-48010467, 48010480, 48010532-48010536, 48010538 |
| 257 | LHCGR | 2 | 0.99714285714286 | 6 | 2100 | 48982764-48982767, 48982771, 48982786 |
| 258 | NRXN1 | 2 | 0.99593220338983 | 18 | 4425 | 50765567-50765584 |
| 259 | ATP6V1B1 | 2 | 0.99870298313878 | 2 | 1542 | 71163086, 71163134 |
| 260 | ALMS1 | 2 | 0.99544145873321 | 57 | 12504 | 73613028-73613084 |
| 261 | SLC4A5 | 2 | 0.997949619215 | 7 | 3414 | 74531620-74531626 |
| 262 | DCTN1 | 2 | 0.99843627834246 | 6 | 3837 | 74592662-74592667 |
| 263 | SFTPB | 2 | 0.99738219895288 | 3 | 1146 | 85895267-85895269 |
| 264 | REEP1 | 2 | 0.94719471947195 | 32 | 606 | 86564602-86564633 |
| 265 | EIF2AK3 | 2 | 0.99850790808714 | 5 | 3351 | 88887545, 88887571, 88926730-88926732 |
| 266 | RANBP2 | 2 | 0.94739018087855 | 509 | 9675 | 109345588-109345601, 109347317-109347341, 109351988-109352019, 109357110-109357126, 109363251-109363254, 109365376-109365383, 109365399-109365429, 109367720-109367732, 109367841-109367847, 109368074-109368110, 109368437, 109368449, 109370345-109370363, 109370386-109370401, 109371370-109371375, 109371381, 109371388, 109371495-109371512, 109371632-109371633, 109374869-109374872, 109374901-109374918, 109382170, 109382889-109382895, 109383052-109383058, 109383187-109383225, 109383268-109383274, 109383315-109383321, 109383354-109383371, 109383672-109383682, 109383769-109383794, 109383822-109383828, 109383885-109383891, 109384004-109384013, 109384164-109384205, 109384561-109384567, 109384597-109384634 |
| 267 | NPHP1 | 2 | 0.99950835791544 | 1 | 2034 | 110917739 |
| 268 | MERTK | 2 | 0.99733333333333 | 8 | 3000 | 112656313, 112656322, 112656334-112656338, 112656359 |
| 269 | GLI2 | 2 | 0.99075824406637 | 44 | 4761 | 121746090-121746091, 121746114-121746119, 121746161-121746164, 121746168, 121746171-121746174, 121746179-121746181, 121746199, 121746215, 121746222-121746235, 121746250-121746255, 121746258-121746259 |
| 270 | PROC | 2 | 0.98917748917749 | 15 | 1386 | 128180650, 128180673-128180678, 128180691, 128180702, 128180705-128180709, 128180720 |
| 271 | CFC1 | 2 | 0.99553571428571 | 3 | 672 | 131280380-131280382 |
| 272 | MMADHC | 2 | 0.996632996633 | 3 | 891 | 150438730-150438732 |
| 273 | NEB | 2 | 0.99509362170822 | 98 | 19974 | 152424601, 152432665-152432674, 152432724-152432809, 152511785 |
| 274 | SCN2A | 2 | 0.99435028248588 | 34 | 6018 | 166171981-166171993, 166172038-166172051, 166221758-166221764 |
| 275 | SCN1A | 2 | 0.99983324995831 | 1 | 5997 | 166854675 |
| 276 | SCN9A | 2 | 0.9994944388271 | 3 | 5934 | 167083172, 167083175-167083176 |
| 277 | ITGA6 | 2 | 0.99969474969475 | 1 | 3276 | 173334009 |
| 278 | HOXD13 | 2 | 0.99903100775194 | 1 | 1032 | 176957828 |
| 279 | AGPS | 2 | 0.97218007081437 | 55 | 1977 | 178346795-178346800, 178346829, 178346842-178346852, 178346865-178346866, 178346877-178346878, 178346882-178346896, 178346899-178346914, 178362477-178362478 |
| 280 | TTN | 2 | 0.99978054425026 | 22 | 100248 | 179422759, 179447772, 179534945-179534952, 179543141-179543152 |
| 281 | COL3A1 | 2 | 0.99931833674165 | 3 | 4401 | 189850449, 189856916, 189871665 |
| 282 | PMS1 | 2 | 0.9967845659164 | 9 | 2799 | 190718676, 190719140-190719147 |
| 283 | STAT1 | 2 | 0.99778073679538 | 5 | 2253 | 191859797, 191859864-191859867 |
| 284 | HSPD1 | 2 | 0.98954703832753 | 18 | 1722 | 198351826-198351843 |
| 285 | ALS2 | 2 | 0.99979895456373 | 1 | 4974 | 202626391 |
| 286 | ABCA12 | 2 | 0.99820236260914 | 14 | 7788 | 215809815-215809828 |
| 287 | SMARCAL1 | 2 | 0.99860383944154 | 4 | 2865 | 217347564-217347566, 217347569 |
| 288 | BCS1L | 2 | 0.9968253968254 | 4 | 1260 | 219527362-219527365 |
| 289 | OBSL1 | 2 | 0.99138991389914 | 49 | 5691 | 220416277-220416280, 220416287-220416288, 220435636, 220435640, 220435650-220435651, 220435658-220435667, 220435671, 220435738-220435756, 220435766-220435773, 220435905 |
| 290 | CHRND | 2 | 0.998712998713 | 2 | 1554 | 233390928-233390929 |
| 291 | COL6A3 | 2 | 0.9992657856094 | 7 | 9534 | 238250787-238250793 |
| 292 | D2HGDH | 2 | 0.99553001277139 | 7 | 1566 | 242707286, 242707289-242707293, 242707354 |
| 293 | C20orf54 | 20 | 0.99716312056738 | 4 | 1410 | 744354-744357 |
| 294 | AVP | 20 | 0.89494949494949 | 52 | 495 | 3063340, 3063623-3063634, 3063640-3063649, 3063658-3063683, 3063763, 3063770, 3063780 |
| 295 | FERMT1 | 20 | 0.99655850540806 | 7 | 2034 | 6088202-6088208 |
| 296 | C20orf7 | 20 | 0.97109826589595 | 30 | 1038 | 13782191-13782220 |
| 297 | SNTA1 | 20 | 0.97101449275362 | 44 | 1518 | 32031215, 32031359-32031360, 32031377-32031409, 32031414-32031421 |
| 298 | CTSA | 20 | 0.99799599198397 | 3 | 1497 | 44520238-44520240 |
| 299 | VAPB | 20 | 0.99726775956284 | 2 | 732 | 56993370-56993371 |
| 300 | EDN3 | 20 | 0.99023709902371 | 7 | 717 | 57896242-57896248 |
| 301 | CHRNA4 | 20 | 0.99893842887473 | 2 | 1884 | 61981610, 61992496 |
| 302 | KCNQ2 | 20 | 0.99809087437953 | 5 | 2619 | 62103640-62103641, 62103701, 62103719-62103720 |
| 303 | SOX18 | 20 | 0.69004329004329 | 358 | 1155 | 62680512-62680869 |
| 304 | APP | 21 | 0.99740596627756 | 6 | 2313 | 27394182-27394187 |
| 305 | BACH1 | 21 | 0.99909543193125 | 2 | 2211 | 30715024, 30715043 |
| 306 | IFNGR2 | 21 | 0.92800788954635 | 73 | 1014 | 34775850-34775922 |
| 307 | HLCS | 21 | 0.99724896836314 | 6 | 2181 | 38309228-38309233 |
| 308 | AIRE | 21 | 0.99267399267399 | 12 | 1638 | 45706465, 45706477, 45706488-45706495, 45714346, 45714349 |
| 309 | ITGB2 | 21 | 0.99090909090909 | 21 | 2310 | 46308650-46308652, 46308657-46308668, 46308677, 46308680, 46308684-46308686, 46308693 |
| 310 | COL18A1 | 21 | 0.99791073124406 | 11 | 5265 | 46876351-46876361 |
| 311 | COL6A1 | 21 | 0.99222546161322 | 24 | 3087 | 47401805-47401807, 47422530-47422550 |
| 312 | COL6A2 | 21 | 0.99934640522876 | 2 | 3060 | 47531391-47531392 |
| 313 | FTCD | 21 | 0.98769987699877 | 20 | 1626 | 47565732-47565751 |
| 314 | PRODH | 22 | 0.99389905712701 | 11 | 1803 | 18908872-18908878, 18923539-18923541, 18923544 |
| 315 | GP1BB | 22 | 0.98872785829308 | 7 | 621 | 19711670-19711673, 19711692, 19711784, 19711787 |
| 316 | TBX1 | 22 | 0.88911290322581 | 165 | 1488 | 19748428-19748586, 19748616, 19748640, 19753967, 19754292-19754294 |
| 317 | HPS4 | 22 | 0.99810606060606 | 4 | 2112 | 26859957-26859960 |
| 318 | CHEK2 | 22 | 0.92277115275412 | 136 | 1761 | 29083906-29083912, 29083946-29083965, 29085135-29085171, 29090020-29090035, 29091139-29091160, 29091718-29091743, 29091837-29091844 |
| 319 | NF2 | 22 | 0.99832214765101 | 3 | 1788 | 30074306, 30074309, 30074312 |
| 320 | TRIOBP | 22 | 0.97675401521555 | 165 | 7098 | 38119744-38119745, 38119749-38119751, 38119754-38119757, 38119763, 38119766-38119767, 38119771, 38119798-38119804, 38119856-38119862, 38119879-38119921, 38120030-38120068, 38120153, 38120176-38120178, 38120196, 38120297-38120303, 38120426-38120456, 38120480-38120486, 38122448, 38129312-38129315, 38129332 |
| 321 | SOX10 | 22 | 0.99785867237687 | 3 | 1401 | 38379674-38379676 |
| 322 | EP300 | 22 | 0.99986197377502 | 1 | 7245 | 41573381 |
| 323 | TNFRSF13C | 22 | 0.86486486486486 | 75 | 555 | 42322243-42322302, 42322316-42322330 |
| 324 | CYB5R3 | 22 | 0.97682119205298 | 21 | 906 | 43045301-43045321 |
| 325 | TYMP | 22 | 0.96894409937888 | 45 | 1449 | 50964471, 50964475, 50964480, 50964501, 50964505-50964506, 50964508-50964512, 50964519-50964533, 50964538-50964539, 50964543-50964547, 50964719-50964720, 50964723, 50964793-50964795, 50964805, 50964811, 50964828-50964831 |
| 326 | ARSA | 22 | 0.99606299212598 | 6 | 1524 | 51063811-51063816 |
| 327 | SHANK3 | 22 | 0.85888634630053 | 740 | 5244 | 51113070-51113132, 51135951-51136143, 51158730-51158937, 51158948, 51158951-51158962, 51158967-51159001, 51159007-51159046, 51159070, 51159098-51159101, 51159112, 51159169-51159210, 51159933, 51169328-51169333, 51169430, 51169437, 51169440, 51169508-51169510, 51169529-51169531, 51169537-51169539, 51169542-51169551, 51169567-51169626, 51169635-51169653, 51169659-51169688, 51169717-51169718 |
| 328 | SUMF1 | 3 | 0.99911111111111 | 1 | 1125 | 4458828 |
| 329 | FANCD2 | 3 | 0.97803442028986 | 97 | 4416 | 10085533-10085539, 10088264-10088311, 10088326-10088346, 10091150-10091156, 10114612-10114618, 10114941-10114947 |
| 330 | SCN5A | 3 | 0.99847172694855 | 9 | 5889 | 38629002-38629003, 38645434-38645440 |
| 331 | TMIE | 3 | 0.99782135076253 | 1 | 459 | 46742896 |
| 332 | TMIE | 3 | 0.99363057324841 | 3 | 471 | 46751074-46751076 |
| 333 | RFT1 | 3 | 0.99630996309963 | 6 | 1626 | 53156432-53156437 |
| 334 | FLNB | 3 | 0.9997438852606 | 2 | 7809 | 58062890, 58134014 |
| 335 | ATXN7 | 3 | 0.90169133192389 | 279 | 2838 | 63898275-63898343, 63898357-63898427, 63898438-63898576 |
| 336 | GBE1 | 3 | 0.93314366998578 | 141 | 2109 | 81754624-81754764 |
| 337 | PROS1 | 3 | 0.99753815854259 | 5 | 2031 | 93595848, 93595942-93595944, 93595956 |
| 338 | UMPS | 3 | 0.997227997228 | 4 | 1443 | 124454082-124454085 |
| 339 | ATP2C1 | 3 | 0.99473684210526 | 15 | 2850 | 130649318-130649332 |
| 340 | NPHP3 | 3 | 0.96819434009517 | 127 | 3993 | 132438549-132438674, 132441070 |
| 341 | FOXL2 | 3 | 0.95402298850575 | 52 | 1131 | 138664658-138664674, 138664677-138664678, 138664694, 138664761, 138664816, 138664822, 138664839-138664844, 138664863-138664864, 138664868-138664876, 138664884-138664890, 138665025, 138665033-138665036 |
| 342 | PLOD2 | 3 | 0.99824330259113 | 4 | 2277 | 145802974, 145804616, 145804635, 145804652 |
| 343 | IFT80 | 3 | 0.99398625429553 | 14 | 2328 | 160000343-160000355, 160018711 |
| 344 | OPA1 | 3 | 0.9996719160105 | 1 | 3048 | 193355056 |
| 345 | IDUA | 4 | 0.98165137614679 | 36 | 1962 | 995815-995820, 996604, 996611, 996617, 996620, 996673, 996933-996936, 996940, 997172-997187, 997190-997193 |
| 346 | FGFR3 | 4 | 0.99423156159868 | 14 | 2427 | 1801027-1801036, 1808916, 1808973, 1808979-1808980 |
| 347 | SH3BP2 | 4 | 0.9967689822294 | 6 | 1857 | 2820036, 2820039, 2820113-2820116 |
| 348 | HTT | 4 | 0.99427298759147 | 54 | 9429 | 3076601, 3076611-3076649, 3076654-3076663, 3076687-3076688, 3076726, 3076774 |
| 349 | DOK7 | 4 | 0.98877887788779 | 17 | 1515 | 3465262-3465278 |
| 350 | EVC | 4 | 0.9983215844243 | 5 | 2979 | 5713227-5713228, 5713231-5713233 |
| 351 | QDPR | 4 | 0.99591836734694 | 3 | 735 | 17513649, 17513657, 17513660 |
| 352 | CNGA1 | 4 | 0.98114035087719 | 43 | 2280 | 47954600-47954627, 47954666-47954667, 47973015-47973027 |
| 353 | CDS1 | 4 | 0.997113997114 | 4 | 1386 | 85560091-85560094 |
| 354 | PKD2 | 4 | 0.99208806329549 | 23 | 2907 | 88928949-88928950, 88928954-88928957, 88928988, 88929003-88929005, 88929008-88929012, 88929024-88929031 |
| 355 | SNCA | 4 | 0.92434988179669 | 32 | 423 | 90749294-90749318, 90749327-90749330, 90756702-90756704 |
| 356 | MANBA | 4 | 0.99962121212121 | 1 | 2640 | 103611787 |
| 357 | CISD2 | 4 | 0.94117647058824 | 24 | 408 | 103808506-103808522, 103808569-103808575 |
| 358 | ANK2 | 4 | 0.99730503621358 | 32 | 11874 | 114161658-114161682, 114213645-114213651 |
| 359 | BBS7 | 4 | 0.99115456238361 | 19 | 2148 | 122766689, 122766694-122766701, 122775865-122775869, 122775946, 122775972-122775975 |
| 360 | FGB | 4 | 0.99457994579946 | 8 | 1476 | 155484211-155484218 |
| 361 | LRAT | 4 | 0.98556998556999 | 10 | 693 | 155670228-155670237 |
| 362 | CTSO | 4 | 0.99896480331263 | 1 | 966 | 156863573 |
| 363 | GLRB | 4 | 0.9718875502008 | 42 | 1494 | 158041708-158041710, 158041715, 158041723-158041725, 158041756, 158041760-158041789, 158041793-158041795, 158041798 |
| 364 | GK | 4 | 0.98375451263538 | 27 | 1662 | 166199346-166199364, 166199386-166199392, 166200414 |
| 365 | SDHA | 5 | 0.88771929824561 | 224 | 1995 | 218501-218507, 223682-223683, 228359-228399, 235289-235295, 236553-236559, 236613-236619, 236646-236681, 236693-236699, 240564-240570, 251108-251114, 251143-251179, 251465-251472, 254526-254532, 254571-254612, 256472, 256509 |
| 366 | TERT | 5 | 0.96381288614298 | 123 | 3399 | 1294613-1294619, 1294678-1294711, 1295010-1295041, 1295055-1295104 |
| 367 | SDHA | 5 | 0.96636085626911 | 11 | 327 | 1593246, 1593264, 1593266, 1593326, 1593383-1593389 |
| 368 | DNAH5 | 5 | 0.99488288288288 | 71 | 13875 | 13916462-13916474, 13916482-13916535, 13916550-13916551, 13916556, 13916563 |
| 369 | FAM134B | 5 | 0.99799196787149 | 3 | 1494 | 16616830-16616831, 16616895 |
| 370 | NIPBL | 5 | 0.97956030897207 | 172 | 8415 | 37036511, 37036517-37036589, 37048610-37048623, 37048630-37048712, 37048769 |
| 371 | LIFR | 5 | 0.99453551912568 | 18 | 3294 | 38482726-38482732, 38482739, 38482762-38482769, 38506025-38506026 |
| 372 | OXCT1 | 5 | 0.98592450415867 | 22 | 1563 | 41862758-41862760, 41862785, 41862800-41862802, 41862809, 41862812, 41862818-41862830 |
| 373 | GHR | 5 | 0.99947835159103 | 1 | 1917 | 42718969 |
| 374 | ERCC8 | 5 | 0.99328295549958 | 8 | 1191 | 60200647-60200652, 60240759-60240760 |
| 375 | NDUFAF2 | 5 | 0.96274509803922 | 19 | 510 | 60394819-60394822, 60394832-60394839, 60448632-60448638 |
| 376 | AP3B1 | 5 | 0.9923896499239 | 25 | 3285 | 77311337-77311340, 77436987-77436998, 77524009-77524012, 77563344-77563348 |
| 377 | RASA1 | 5 | 0.96596692111959 | 107 | 3144 | 86669980-86669984, 86669987-86669990, 86670022-86670026, 86670030-86670035, 86670044-86670050, 86670058-86670137 |
| 378 | MEF2C | 5 | 0.99929676511955 | 1 | 1422 | 88024384 |
| 379 | GPR98 | 5 | 0.99941863537868 | 11 | 18921 | 89914953-89914955, 89925088, 89925135-89925139, 89925144, 90144564 |
| 380 | PCSK1 | 5 | 0.99646330680813 | 8 | 2262 | 95764927-95764934 |
| 381 | WDR36 | 5 | 0.99859943977591 | 4 | 2856 | 110436359, 110441767-110441769 |
| 382 | HSD17B4 | 5 | 0.99909543193125 | 2 | 2211 | 118835119-118835120 |
| 383 | LMNB1 | 5 | 0.99829642248722 | 3 | 1761 | 126113465-126113467 |
| 384 | FBN2 | 5 | 0.99759697905939 | 21 | 8739 | 127644999-127645001, 127645702, 127645707, 127702082-127702086, 127702104-127702112, 127702122-127702123 |
| 385 | MYOT | 5 | 0.98196392785571 | 27 | 1497 | 137221748, 137221751, 137221843, 137221851-137221863, 137221881-137221884, 137221894-137221900 |
| 386 | MATR3 | 5 | 0.99606918238994 | 10 | 2544 | 138658531-138658532, 138658535-138658536, 138658649-138658650, 138658653-138658656 |
| 387 | DIAPH1 | 5 | 0.99266823775858 | 28 | 3819 | 140907263-140907264, 140953356, 140953447, 140953458-140953463, 140953547, 140953564-140953572, 140953575, 140953586, 140953753-140953758 |
| 388 | TCOF1 | 5 | 0.99839302112029 | 7 | 4356 | 149773015-149773021 |
| 389 | NSD1 | 5 | 0.99864046471388 | 11 | 8091 | 176696798-176696808 |
| 390 | GRM6 | 5 | 0.98025816249051 | 52 | 2634 | 178421770-178421790, 178421912-178421942 |
| 391 | FLT4 | 5 | 0.99951124144673 | 2 | 4092 | 180076526, 180076529 |
| 392 | FOXC1 | 6 | 0.98736462093863 | 21 | 1662 | 1611815-1611818, 1611822, 1612024, 1612028-1612035, 1612038-1612040, 1612050-1612053 |
| 393 | TUBB2B | 6 | 0.99476831091181 | 7 | 1338 | 3226002-3226008 |
| 394 | DTNBP1 | 6 | 0.99715909090909 | 3 | 1056 | 15663098-15663100 |
| 395 | ATXN1 | 6 | 0.98692810457516 | 32 | 2448 | 16327885, 16327888-16327901, 16327903-16327904, 16327907-16327915, 16327918, 16327921, 16327924, 16327927, 16327930, 16327933 |
| 396 | ALDH5A1 | 6 | 0.99574984820886 | 7 | 1647 | 24495349-24495355 |
| 397 | HLA-H | 6 | 0.99066666666667 | 7 | 750 | 29855849, 29856514-29856516, 29856534, 29856546, 29856550 |
| 398 | TNXB | 6 | 0.950233281493 | 96 | 1929 | 31976916, 31976926, 31977141-31977147, 31977387-31977394, 31977528, 31977538, 31977552-31977553, 31977995-31978001, 31978498-31978517, 31978782-31978815, 31979417-31979430 |
| 399 | CYP21A2 | 6 | 0.95161290322581 | 72 | 1488 | 32006210-32006249, 32006337, 32006384-32006390, 32006886, 32007887, 32008448-32008454, 32008893-32008907 |
| 400 | TNXB | 6 | 0.99434362479378 | 72 | 12729 | 32009648-32009664, 32009876-32009882, 32010122-32010129, 32010268-32010275, 32010729-32010735, 32011235, 32011248, 32012271-32012282, 32021355-32021365 |
| 401 | HLA-DQA1 | 6 | 0.60677083333333 | 302 | 768 | 32609091-32609315, 32610387-32610407, 32610428, 32610436, 32610442, 32610454-32610457, 32610461, 32610474-32610509, 32610528-32610536, 32610539-32610541 |
| 402 | HLA-DQB1 | 6 | 0.82697201017812 | 136 | 786 | 32629124-32629173, 32629199, 32629213, 32629224-32629234, 32629763-32629764, 32629802, 32632578, 32632581, 32632587-32632589, 32632592-32632593, 32632629-32632631, 32632634, 32632676-32632682, 32632687-32632691, 32632694, 32632700, 32632713-32632721, 32632736-32632737, 32632744, 32632799-32632805, 32632808-32632832, 32634331 |
| 403 | COL11A2 | 6 | 0.99558625983496 | 23 | 5211 | 33137213-33137215, 33137222-33137225, 33140132, 33140139, 33140349-33140362 |
| 404 | SYNGAP1 | 6 | 0.94866071428571 | 207 | 4032 | 33388042-33388108, 33393625, 33393680, 33405794, 33405797, 33411484-33411519, 33411527-33411528, 33411531-33411532, 33411542-33411548, 33411552, 33411557-33411589, 33411599-33411607, 33411623-33411668 |
| 405 | FANCE | 6 | 0.99441340782123 | 9 | 1611 | 35420385-35420387, 35423662-35423667 |
| 406 | PEX6 | 6 | 0.99864084267754 | 4 | 2943 | 42946442-42946445 |
| 407 | RUNX2 | 6 | 0.99106002554278 | 14 | 1566 | 45390449-45390454, 45390463-45390468, 45390473, 45390490 |
| 408 | MUT | 6 | 0.98002663115846 | 45 | 2253 | 49409586-49409620, 49409640, 49421456, 49421463-49421469, 49423904 |
| 409 | EYS | 6 | 0.99777424483307 | 21 | 9435 | 64940568-64940572, 64940575-64940577, 64940580, 65098724, 65523271, 65523275, 65523368, 65523382, 65523426, 65523432, 65596689, 66005854, 66005868-66005870 |
| 410 | LMBRD1 | 6 | 0.97843499691929 | 35 | 1623 | 70410717-70410742, 70410759-70410760, 70462242-70462248 |
| 411 | RIMS1 | 6 | 0.99704666272888 | 15 | 5079 | 72945410-72945416, 73108789-73108796 |
| 412 | LCA5 | 6 | 0.9937917860554 | 13 | 2094 | 80196722-80196725, 80196729-80196737 |
| 413 | BCKDHB | 6 | 0.99151823579304 | 10 | 1179 | 80881004, 80881089-80881097 |
| 414 | RARS2 | 6 | 0.99539435808866 | 8 | 1737 | 88265141-88265148 |
| 415 | GJA1 | 6 | 0.99390774586597 | 7 | 1149 | 121768922-121768928 |
| 416 | LAMA2 | 6 | 0.99989319662501 | 1 | 9363 | 129486747 |
| 417 | ENPP1 | 6 | 0.99676025917927 | 9 | 2778 | 132171184-132171190, 132203500, 132203571 |
| 418 | EYA4 | 6 | 0.99947916666667 | 1 | 1920 | 133783580 |
| 419 | AHI1 | 6 | 0.99944305207463 | 2 | 3591 | 135776993-135776994 |
| 420 | PEX7 | 6 | 0.96502057613169 | 34 | 972 | 137167252-137167278, 137167291-137167296, 137167312 |
| 421 | PEX3 | 6 | 0.99910873440285 | 1 | 1122 | 143792105 |
| 422 | EPM2A | 6 | 0.99598393574297 | 4 | 996 | 146056583-146056585, 146056588 |
| 423 | IYD | 6 | 0.99770114942529 | 2 | 870 | 150719238-150719239 |
| 424 | SYNE1 | 6 | 0.9999242252027 | 2 | 26394 | 152542631, 152728223 |
| 425 | PARK2 | 6 | 0.99427753934192 | 8 | 1398 | 161969950-161969952, 161969968-161969971, 161969977 |
| 426 | TBP | 6 | 0.89313725490196 | 109 | 1020 | 170871009-170871109, 170871129-170871136 |
| 427 | LFNG | 7 | 0.81842105263158 | 207 | 1140 | 2559496-2559550, 2559577-2559579, 2559582-2559628, 2559646-2559652, 2559661, 2559683, 2559686-2559692, 2559695-2559697, 2559719-2559724, 2559734-2559767, 2559777-2559781, 2559788-2559794, 2559804-2559807, 2559827, 2559830-2559845, 2559876-2559882, 2559893-2559895 |
| 428 | PMS2 | 7 | 0.97566628041715 | 63 | 2589 | 6013045-6013052, 6013149-6013156, 6017321-6017327, 6026905-6026911, 6026999-6027020, 6042264-6042267, 6045523-6045529 |
| 429 | TWIST1 | 7 | 0.72906403940887 | 165 | 609 | 19156550, 19156562-19156576, 19156783, 19156789, 19156798-19156944 |
| 430 | DNAH11 | 7 | 0.99830533451223 | 23 | 13572 | 21630536-21630537, 21630639-21630640, 21630924-21630927, 21639488-21639501, 21893993 |
| 431 | HOXA13 | 7 | 0.75664095972579 | 284 | 1167 | 27239113, 27239295-27239577 |
| 432 | RP9 | 7 | 0.996996996997 | 2 | 666 | 33134848, 33148923 |
| 433 | BBS9 | 7 | 0.9984984984985 | 4 | 2664 | 33303983-33303986 |
| 434 | CCM2 | 7 | 0.97752808988764 | 30 | 1335 | 45039933-45039962 |
| 435 | NCF1 | 7 | 0.9369696969697 | 52 | 825 | 72640033-72640039, 72643642-72643648, 72645924-72645930, 72648669-72648699 |
| 436 | ELN | 7 | 0.99908045977011 | 2 | 2175 | 73442540, 73442548 |
| 437 | NCF1 | 7 | 0.90878090366581 | 107 | 1173 | 74191613-74191619, 74193642, 74193668, 74197323-74197329, 74197911-74197917, 74202349-74202379, 74202917-74202936, 74203007-74203039 |
| 438 | HSPB1 | 7 | 0.99838187702265 | 1 | 618 | 75932304 |
| 439 | ABCB4 | 7 | 0.99713541666667 | 11 | 3840 | 87031478-87031488 |
| 440 | AKAP9 | 7 | 0.99846468781986 | 18 | 11724 | 91609603-91609613, 91609624, 91609636, 91609639, 91630257, 91630267-91630268, 91646383 |
| 441 | COL1A2 | 7 | 0.99195318215069 | 33 | 4101 | 94030899, 94030911-94030912, 94030918, 94030921, 94030927-94030931, 94049921-94049929, 94049957-94049960, 94058702-94058711 |
| 442 | SGCE | 7 | 0.99926253687316 | 1 | 1356 | 94259073 |
| 443 | RELN | 7 | 0.99961453213838 | 4 | 10377 | 103126753-103126756 |
| 444 | CFTR | 7 | 0.949358541526 | 225 | 4443 | 117188713-117188753, 117188760-117188800, 117188838-117188853, 117234986-117235112 |
| 445 | IMPDH1 | 7 | 0.99444444444444 | 10 | 1800 | 128049873-128049882 |
| 446 | FLNC | 7 | 0.99914404499878 | 7 | 8178 | 128498187-128498193 |
| 447 | ATP6V0A4 | 7 | 0.97423701942132 | 65 | 2523 | 138394369-138394432, 138394491 |
| 448 | PRSS1 | 7 | 0.89784946236559 | 76 | 744 | 142459653-142459682, 142460332-142460338, 142460366-142460397, 142460798-142460804 |
| 449 | CNTNAP2 | 7 | 0.99449449449449 | 22 | 3996 | 145813981-145813997, 147914481-147914485 |
| 450 | KCNH2 | 7 | 0.96120689655172 | 135 | 3480 | 150644723-150644727, 150644730-150644735, 150644742-150644752, 150644756, 150644775-150644781, 150671839-150671859, 150671871-150671874, 150671879-150671888, 150671891-150671907, 150671911-150671920, 150671940-150671961, 150671972-150671975, 150674974-150674985, 150674988-150674992 |
| 451 | SHH | 7 | 0.98488120950324 | 21 | 1389 | 155595748-155595750, 155595753-155595754, 155595758-155595759, 155595764-155595777 |
| 452 | MNX1 | 7 | 0.83001658374793 | 205 | 1206 | 156798250, 156799259-156799263, 156799275-156799283, 156802638, 156802646-156802775, 156802778-156802782, 156802785, 156802810, 156802847-156802868, 156802890-156802904, 156802907, 156802910-156802916, 156802928-156802934 |
| 453 | HGSNAT | 8 | 0.99947589098532 | 1 | 1908 | 42995701 |
| 454 | CHD7 | 8 | 0.99866577718479 | 12 | 8994 | 61654443, 61749420-61749423, 61749434, 61749437-61749441, 61749471 |
| 455 | CYP7B1 | 8 | 0.99868507560815 | 2 | 1521 | 65711122, 65711128 |
| 456 | TMEM67 | 8 | 0.97991967871486 | 60 | 2988 | 94768006-94768009, 94768018-94768020, 94777637-94777641, 94777825-94777860, 94777866-94777874, 94828674-94828676 |
| 457 | GDF6 | 8 | 0.99342105263158 | 9 | 1368 | 97157418-97157420, 97157433-97157437, 97157444 |
| 458 | VPS13B | 8 | 0.99641487410372 | 43 | 11994 | 100026125, 100123399-100123402, 100123406-100123412, 100123419-100123420, 100123432-100123433, 100123441-100123444, 100123452, 100514007, 100514036-100514043, 100514058-100514070 |
| 459 | KCNQ3 | 8 | 0.99961817487591 | 1 | 2619 | 133492750 |
| 460 | TG | 8 | 0.99987961959793 | 1 | 8307 | 133882071 |
| 461 | CYP11B1 | 8 | 0.98611111111111 | 21 | 1512 | 143958513-143958533 |
| 462 | CYP11B2 | 8 | 0.96626984126984 | 51 | 1512 | 143993988-143993994, 143994026-143994032, 143994069-143994081, 143996539, 143996553, 143998608-143998629 |
| 463 | PLEC | 8 | 0.99046602632515 | 134 | 14055 | 144990496, 144993948-144993954, 144993957, 144993964-144993970, 144995051-144995065, 144995808-144995809, 144996233-144996238, 144996248-144996256, 144996260-144996263, 144998909-144998918, 144999442, 144999684, 144999989-145000027, 145003337-145003347, 145003817-145003835, 145006619 |
| 464 | GPT | 8 | 0.98054996646546 | 29 | 1491 | 145730733, 145731514, 145731700-145731702, 145731906-145731929 |
| 465 | RECQL4 | 8 | 0.99889716018748 | 4 | 3627 | 145739457-145739460 |
| 466 | KCNV2 | 9 | 0.98901098901099 | 18 | 1638 | 2718464-2718471, 2718655, 2718748-2718751, 2718763-2718767 |
| 467 | GLIS3 | 9 | 0.99820981023989 | 5 | 2793 | 4118062-4118065, 4118072 |
| 468 | JAK2 | 9 | 0.98882024124743 | 38 | 3399 | 5070006, 5077453-5077456, 5077469-5077479, 5077487-5077499, 5077503-5077508, 5077532-5077533, 5077536 |
| 469 | CDKN2A | 9 | 0.98301486199575 | 8 | 471 | 21974773-21974780 |
| 470 | TMC1 | 9 | 0.99868593955322 | 3 | 2283 | 75315434-75315436 |
| 471 | TRPM6 | 9 | 0.99769319492503 | 14 | 6069 | 77386716-77386729 |
| 472 | VPS13A | 9 | 0.98246719160105 | 167 | 9525 | 79820307, 79890558, 79896785, 79896789-79896792, 79896801-79896842, 79897072-79897073, 79908407, 79908417-79908424, 79910637, 79929474, 79931178-79931185, 79931194-79931198, 79932525, 79932529, 79932532-79932536, 79932562-79932614, 79972622, 79996906-79996932, 79996941-79996943, 79996968 |
| 473 | ROR2 | 9 | 0.9989406779661 | 3 | 2832 | 94486022, 94486025, 94486031 |
| 474 | FOXE1 | 9 | 0.99643493761141 | 4 | 1122 | 100616693, 100616707-100616709 |
| 475 | TGFBR1 | 9 | 0.97619047619048 | 36 | 1512 | 101867534-101867569 |
| 476 | CDK5RAP2 | 9 | 0.99982400563182 | 1 | 5682 | 123171433 |
| 477 | NR5A1 | 9 | 0.99422799422799 | 8 | 1386 | 127245161-127245168 |
| 478 | STXBP1 | 9 | 0.99944812362031 | 1 | 1812 | 130415998 |
| 479 | TTF1 | 9 | 0.99521707137601 | 13 | 2718 | 135278149-135278161 |
| 480 | CEL | 9 | 0.85116688683399 | 338 | 2271 | 135944583-135944589, 135945985-135946018, 135946387-135946393, 135946683-135946726, 135946747-135946792, 135946800-135946999 |
| 481 | SURF1 | 9 | 0.99889258028793 | 1 | 903 | 136223307 |
| 482 | ADAMTS13 | 9 | 0.9906629318394 | 40 | 4284 | 136293771-136293803, 136293830, 136293841, 136308655-136308658, 136308661 |
| 483 | DBH | 9 | 0.99244875943905 | 14 | 1854 | 136522276-136522287, 136523501-136523502 |
| 484 | COL5A1 | 9 | 0.99583106760921 | 23 | 5517 | 137534067, 137534073-137534080, 137534084, 137593044-137593056 |
| 485 | LHX3 | 9 | 0.96856906534326 | 38 | 1209 | 139089298, 139089308, 139090807, 139090810, 139090882-139090905, 139094859, 139094868-139094876 |
| 486 | INPP5E | 9 | 0.99018087855297 | 19 | 1935 | 139326276-139326280, 139333166, 139333331-139333340, 139333343-139333345 |
| 487 | AGPAT2 | 9 | 0.94862604540024 | 43 | 837 | 139581734-139581776 |
| 488 | SLC34A3 | 9 | 0.98111111111111 | 34 | 1800 | 140128315-140128335, 140128340, 140128345-140128352, 140128376-140128379 |
| 489 | EHMT1 | 9 | 0.99743392353092 | 10 | 3897 | 140705913-140705922 |
| 490 | FANCB | X | 0.99961240310078 | 1 | 2580 | 14877377 |
| 491 | ARX | X | 0.98223801065719 | 30 | 1689 | 25031279-25031286, 25031493-25031494, 25031562-25031565, 25031655-25031659, 25031664-25031670, 25031682, 25031777-25031779 |
| 492 | DMD | X | 0.99990956773377 | 1 | 11058 | 32398796 |
| 493 | RPGR | X | 0.94044521538017 | 206 | 3459 | 38145342-38145349, 38145386-38145463, 38145488-38145494, 38145504-38145574, 38145583-38145588, 38145611-38145622, 38145644-38145649, 38145658-38145668, 38145677-38145683 |
| 494 | AR | X | 0.9833514296055 | 46 | 2763 | 66765176-66765182, 66765185-66765187, 66765200-66765208, 66766359-66766385 |
| 495 | MED12 | X | 0.99892868074686 | 7 | 6534 | 70338611, 70338635, 70338646-70338647, 70361098-70361100 |
| 496 | TAF1 | X | 0.98768039422738 | 70 | 5682 | 70586178-70586238, 70586244-70586252 |
| 497 | BRWD3 | X | 0.99556295063783 | 24 | 5409 | 79991573-79991574, 80064949-80064970 |
| 498 | SOX3 | X | 0.99701715137957 | 4 | 1341 | 139586481-139586484 |
| 499 | SLC6A8 | X | 0.9559748427673 | 84 | 1908 | 152954031, 152954034-152954039, 152954098-152954101, 152954114-152954167, 152954177-152954182, 152954206, 152954216-152954222, 152954226-152954230 |
| 500 | MECP2 | X | 0.99465597862391 | 8 | 1497 | 153363097-153363104 |
| 501 | OPN1MW | X | 0.99178082191781 | 9 | 1095 | 153453443-153453449, 153455671, 153459080 |
| 502 | OPN1MW | X | 0.99360730593607 | 7 | 1095 | 153490561-153490567 |
| Effect rank | Variant | Phase/ Zygosity | Allele freq | Impact | Evaluation | Summary / Info |
|---|---|---|---|---|---|---|
| 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-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-W112R | homozygous | 0.945 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 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 | COL4A1-V7L | het unknown | 0.211 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2.5 | BRCA2-N372H | homozygous | 0.230 | Recessive pathogenic | Low clinical importance, uncertain | This is a common variant of BRCA2 (HapMap allele frequency of 23%). The variant is weakly associated with an increased chance of breast cancer, and zygosity of the variant is associated with sex of children: male children are more likely to be homozygous for this variant, female children are more likely to be heterozygous. |
| 2.5 | BRCA2-V2466A | homozygous | 0.954 | Dominant benign | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2.5 | DCTN1-T1249I | het unknown | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.028 (benign), Testable gene in GeneTests with associated GeneReview | |
| 2.5 | HTRA2-A141S | het unknown | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 5 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 2.5 | TP53-P72R | homozygous | 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. |
| 2 | ADRB1-S49G | homozygous | 0.003 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown |
| 2 | FANCB-G335E | homozygous | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.936 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 2 | APOA5-S19W | het unknown | 0.039 | Unknown pathogenic | Low clinical importance, likely | This variant, also known as APOA5*3, is associated with higher plasma triglyceride concentrations but no significant correlation with coronary artery disease itself has been found. |
| 2 | TOR1A-D216H | homozygous | 0.089 | Unknown protective | Low clinical importance, likely | This SNP has been shown to be benign and play a protective role against Dystonia. |
| 2 | H6PD-R453Q | homozygous | 0.407 | Recessive pathogenic | Low clinical importance, uncertain | This common variant may have a small pathogenic effect by contributing to cortisone reductase deficiency (a rare abnormality) when homozygous and combined with a serious pathogenic variant. The same authors have tested and ruled out a contribution to polycystic ovary syndrome (similar phenotype, more common disease). |
| 2 | AKAP10-I646V | homozygous | 0.434 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 2 | AKAP10-R249H | homozygous | 0.427 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 2 | NEFL-S472Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 1 | PLEKHA2-P389Shift | homozygous | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | VSIG10L-Q860Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 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 | DOCK8-A22V | het unknown | 0.291 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.009 (benign), Testable gene in GeneTests |
| 1 | DOCK8-D63N | homozygous | 0.079 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests |
| 1 | DOCK8-N413S | homozygous | 0.193 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.19 (benign), Testable gene in GeneTests |
| 1 | ZNF761-L47Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ZNF761-I122S | het unknown | 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-R336S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ZNF761-Q337H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ZNF761-I340S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ZNF761-R343C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ZNF761-G528S | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ZNF761-E603Q | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ZNF480-C3Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ANKK1-A239T | het unknown | 0.320 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.852 (probably damaging) |
| 1 | ANKK1-G442R | het unknown | 0.541 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | ANKK1-E713K | het unknown | 0.347 | Unknown pathogenic | 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 | APOE-L46P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, 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 | GSDMC-M475T | homozygous | 0.740 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | GSDMC-P23S | homozygous | 0.026 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 1 | FUT2-W154* | homozygous | 0.364 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 1 | FUT2-G258S | homozygous | 0.390 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.954 (probably damaging) |
| 1 | CYP2C9-I359L | het unknown | 0.016 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.048 (benign) |
| 1 | BDNF-V148M | homozygous | 0.208 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | NCRNA00255-P39Shift | homozygous | 0.013 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | KRT4-G160GAGGFGAGFGTGGFG | homozygous | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | VDR-M1T | homozygous | 0.687 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests |
| 1 | PIK3R6-L609Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | CYBA-Y72H | homozygous | 0.649 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | ZFPM1-R22G | het unknown | 0.569 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | ZFPM1-E444Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ZFPM1-L446Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | CTDP1-S61A | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | CTDP1-A489P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | CTDP1-E582EE | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | SEBOX-L207S | homozygous | 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 | TGIF1-P83Shift | het unknown | 0.139 | Complex/Other pathogenic | Low clinical importance, uncertain | Severe variants in this gene are associated with holoprosencephaly disorders when combined with loss-of-function variants in SHH. Haploinsufficiency was identified in some families with this condition. It is unclear how likely this variant is to occur in combination with an SHH variant, or what phenotypic effect the variant would have on its own. |
| 1 | TGIF1-P292L | het unknown | 0.073 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | MAPT-P202L | homozygous | 0.108 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | MAPT-D285N | homozygous | 0.081 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | MAPT-V289A | homozygous | 0.081 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | MAPT-R370W | homozygous | 0.116 | Unknown benign | Low clinical importance, uncertain | Probably benign. |
| 1 | MAPT-S447P | homozygous | 0.055 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | MAPT-GT539AA | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | KRT10-H487Y | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | KRT10-I101S | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | BLMH-I443V | het unknown | 0.241 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | INSR-A2G | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 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 | SH2B3-W262R | homozygous | 0.768 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | ATG9B-A765Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | C19orf55-A325V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | C19orf55-K365N | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | C19orf55-G398Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | HSH2D-S223Shift | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | CILP-Q979R | homozygous | 0.986 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | CILP-K575E | homozygous | 0.974 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | CILP-I395T | het unknown | 0.491 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | ZNF598-M637T | het unknown | 0.601 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | ZNF598-A608T | het unknown | 0.117 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | ZNF598-E555EE | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ZNF598-S453Y | het unknown | 0.107 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 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 | NR_027242-C222Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 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 | CHRNA5-D398N | het unknown | 0.158 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign) |
| 1 | KCP-D621V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | KCP-K395E | het unknown | Unknown | 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 | DFNB59-R265C | homozygous | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.962 (probably damaging), Testable gene in GeneTests |
| 1 | EPHX1-Y113H | homozygous | 0.290 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.997 (probably damaging) |
| 1 | USH2A-M3868V | het unknown | 0.131 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | USH2A-T3835I | het unknown | 0.165 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.157 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | USH2A-E3411A | homozygous | 0.638 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | USH2A-I2169T | het unknown | 0.575 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | USH2A-I2106T | homozygous | 0.629 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | USH2A-I1665T | het unknown | 0.052 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.3 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | USH2A-R1486K | het unknown | 0.646 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | USH2A-L555V | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | USH2A-A125T | het unknown | 0.777 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | CACNA1S-R1539C | homozygous | 0.073 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | CDKL5-Q791P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | HADHB-T2TT | homozygous | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | OTOF-A1083P | het unknown | 0.011 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | OTOF-R822W | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests with associated GeneReview | |
| 1 | OTOF-R82C | het unknown | 0.229 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | DEFB126-Q55Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | DEFB126-P106Shift | homozygous | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | 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 | 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-A119S | het unknown | 0.080 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 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 | GCKR-L446P | homozygous | 0.673 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | HRNR-C1414Y | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-S799T | homozygous | 0.569 | 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 | homozygous | 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 | BC112980-K147Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | PADI6-V343Shift | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | 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 | OPN1LW-I230T | homozygous | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | OPN1LW-A233S | homozygous | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | OPN1LW-M236V | homozygous | 0.099 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | F8-Y365C | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | SEPN1-C108Y | homozygous | 0.789 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SEPN1-N467K | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | KCNE1L-P33S | homozygous | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.979 (probably damaging) |
| 1 | SLC35A2-P15T | homozygous | 0.011 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.891 (probably damaging) |
| 1 | DGKK-D1111N | homozygous | 0.145 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | DGKK-L1014Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | PTPN22-W620R | homozygous | 0.970 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | RAB40A-H45L | homozygous | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.907 (probably damaging) |
| 1 | TCEAL6-Q175Shift | homozygous | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | SCARF2-A832G | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | SCARF2-A814G | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | SCARF2-DV772EL | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | SCARF2-E764Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | SCARF2-P747Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | TTN-I31977T | 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-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 | IL13-Q144R | homozygous | 0.766 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | GPR98-L1093F | het unknown | 0.835 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | GPR98-A1847V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | GPR98-V1951I | het unknown | 0.820 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | 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 |
| 1 | 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 |
| 1 | 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 |
| 1 | GPR98-N2584S | het unknown | 0.825 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | GPR98-G2641E | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | GPR98-A2803T | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | GPR98-E3471K | het unknown | 0.834 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | GPR98-E3867K | het unknown | 0.356 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | GPR98-T4090N | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | 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 |
| 1 | GPR98-V5427M | homozygous | 0.918 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | 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 |
| 1 | IL7R-I66T | homozygous | 0.597 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | IL7R-V138I | homozygous | 0.689 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | IL7R-T244I | homozygous | 0.150 | Unknown protective | Low clinical importance, likely | The reference genome variant for this allele has been associated with a slight increased risk of multiple sclerosis. Thus, this variant can be treated as a "protective" variant -- carriers of this variant are slightly less likely to have MS. Because the disease is rare and the effect of this variant is not very strong, the absolute decreased risk for carriers of this variant is less than .05% (less than 1 in 2000). |
| 1 | AX746903-T82Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | C5orf20-R117* | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 1 | C5orf20-N97D | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | C5orf20-T75P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ADRB2-G16R | het unknown | 0.477 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 1 | ADRB2-E27Q | homozygous | 0.773 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 1 | AIM1-Q293P | het unknown | 0.181 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | AIM1-E1196A | homozygous | 0.935 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.015 (benign) |
| 1 | CDKN1A-S31R | het unknown | 0.271 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | HLA-DQB1-V235I | het unknown | 0.544 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQB1-T217I | homozygous | 0.256 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQB1-A172T | homozygous | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQB1-G157A | homozygous | 0.539 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQB1-AF118EL | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQB1-V117L | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQB1-E116Q | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQB1-G102R | homozygous | 0.605 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQB1-LL28PV | homozygous | 0.156 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQB1-S27T | homozygous | 0.206 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQB1-D12G | homozygous | 0.395 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TNXB-R48P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | AURKA-I57V | het unknown | 0.814 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | AURKA-F31I | het unknown | 0.366 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | KRTAP7-1-S51P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | KRTAP7-1-Y17Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 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 | homozygous | 0.206 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.999 (probably damaging) |
| 1 | ZNF167-N494Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | COL18A1-T379M | het unknown | 0.325 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.969 (probably damaging), Testable gene in GeneTests |
| 1 | COL18A1-V646M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | COL18A1-Q1195H | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | COL18A1-PGP1362Del | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | CPN2-Q509W | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | ADH1B-H48R | homozygous | 0.678 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 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 | AK298931-E88Q | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | AK298931-W38* | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 1 | AK298931-T4S | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | HTT-Y2309H | homozygous | 0.459 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HTT-V2786I | homozygous | 0.193 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.75 | NPC1-I858V | het unknown | 0.480 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.061 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.75 | NPC1-M642I | het unknown | 0.863 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.75 | NPC1-H215R | het unknown | 0.222 | Complex/Other protective | Low clinical importance, likely | This variant is associated with a reduced risk of obesity, with an additive effect of -0.084 BMI per allele (an average of 0.54 pounds less, per allele, in a 5'6" individual). |
| 0.75 | MTHFR-A222V | het unknown | 0.250 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.858 (probably damaging), Testable gene in GeneTests |
| 0.75 | ABCC6-R1268Q | het unknown | 0.142 | Unknown pharmacogenetic | Low clinical importance, uncertain | This common polymorphism appears to not have a significant phenotypic impact. A few studies report weak but significant associations with plasma lipids (in Inuits) and thalidomide toxicity. |
| 0.75 | ABCC6-M848V | homozygous | 0.954 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.75 | ABCC6-H632Q | homozygous | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.75 | ABCC6-V614A | homozygous | 0.354 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 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 | PCDH15-S1569Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 0.75 | PCDH15-G385S | het unknown | 0.252 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.75 | PCDH15-L352F | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.625 | DFNB31-V783A | homozygous | 0.405 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.625 | DFNB31-H752Q | homozygous | 0.983 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.625 | DFNB31-M613T | homozygous | 0.487 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.625 | DFNB31-R364H | homozygous | 0.968 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.625 | DFNB31-P246Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 0.625 | LAMA3-E2121Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 0.625 | LAMA3-N2815K | het unknown | 0.130 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, 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 | ZNF204P-W209* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | ZNF204P-K6Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | HLA-H-P32Q | het unknown | 0.060 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-H-E34M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | HLA-H-Q61R | het unknown | 0.288 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-H-R100C | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-H-G109S | het unknown | 0.208 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-H-R141Q | het unknown | 0.188 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-H-L145R | het unknown | 0.293 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-H-A147V | het unknown | 0.278 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-H-C238S | homozygous | 0.729 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | KIAA1949-G339R | het unknown | 0.050 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | HSPA1L-E602K | het unknown | 0.225 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign) |
| 0.5 | HSPA1L-T493M | homozygous | 0.868 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign) |
| 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 | FERMT1-R526K | homozygous | 0.468 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | FERMT1-R255C | het unknown | 0.069 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests |
| 0.5 | FERMT1-I160T | het unknown | 0.106 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.004 (benign), Testable gene in GeneTests |
| 0.5 | KIF4B-R580L | het unknown | 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 | PROP1-A142T | het unknown | 0.206 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PROP1-N20S | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL23A1-T287A | homozygous | 0.525 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.009 (benign) |
| 0.5 | COL23A1-R267W | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | HLA-DQA1-L8M | homozygous | 0.457 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-M18T | het unknown | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-Q152H | homozygous | 0.526 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-A183D | het unknown | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-Q198E | homozygous | 0.362 | 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 | SLC26A2-T689S | het unknown | 0.163 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GSTA3-N73D | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.971 (probably damaging) |
| 0.5 | EYS-S2556C | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 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-L1748F | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 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-L852P | homozygous | 0.655 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EYS-G631S | homozygous | 0.596 | 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 | LMBRD1-D469E | homozygous | 0.393 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL9A1-Q621R | homozygous | 0.335 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL9A1-S339P | het unknown | 0.507 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKHD1-Q4048R | het unknown | 0.566 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKHD1-Q3899R | het unknown | 0.546 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 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-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 | CUL7-Q813R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | CRLS1-P193L | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.988 (probably damaging) |
| 0.5 | COL11A2-P894L | het unknown | 0.088 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL11A2-E276K | het unknown | 0.320 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.651 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | TULP1-K261N | homozygous | 0.805 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TULP1-T67R | homozygous | 0.877 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | BRPF3-E1075K | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.912 (probably damaging) |
| 0.5 | PCDHB10-T213R | het unknown | 0.081 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.885 (probably damaging) |
| 0.5 | PCDHB10-D446N | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
| 0.5 | PCDHB10-R543S | homozygous | 0.421 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PCDHB10-L660V | het unknown | 0.202 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PCDHB10-EA684Del | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 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 | MMP9-Q279R | homozygous | 0.477 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | MMP9-R574P | homozygous | 0.813 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MMP9-R668Q | het unknown | 0.187 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HEATR7B2-L1179P | homozygous | 0.779 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HEATR7B2-N918K | het unknown | 0.314 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 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 | CCNO-I219Shift | het unknown | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | RAD17-L557R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) | |
| 0.5 | RAD1-G114D | het unknown | 0.005 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.976 (probably damaging) |
| 0.5 | DNAH5-I766L | het unknown | 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-K110N | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, 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 | COL9A3-P296L | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.314 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 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 | 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 | TLR2-P631H | het unknown | 0.014 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | OCLN-K504N | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.985 (probably damaging) |
| 0.5 | AP3B1-K804Del | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 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 | SHROOM1-P180L | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.976 (probably damaging) | |
| 0.5 | CPNE1-A402Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | CPNE1-P347R | het unknown | 0.084 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.384 (possibly damaging) |
| 0.5 | CPNE1-Q211R | het unknown | 0.274 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | AX746964-G175Shift | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | AX746964-K166I | het unknown | 0.628 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PCDHB16-R202Q | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.983 (probably damaging) |
| 0.5 | PCDHB16-T482I | het unknown | 0.298 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.5 | PCDHB16-Q638H | het unknown | 0.207 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PCDHB16-R652C | het unknown | 0.156 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.02 (benign) |
| 0.5 | PCDHB16-A710V | het unknown | 0.242 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | DLGAP4-R10H | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.987 (probably damaging) |
| 0.5 | FBN2-E1438K | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | FBN2-V965I | homozygous | 0.714 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | KIAA1755-R1045W | homozygous | 0.333 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.986 (probably damaging) |
| 0.5 | KIAA1755-E940K | homozygous | 0.341 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | KIAA1755-R510* | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | ERAP2-K392N | homozygous | 0.540 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ERAP2-N501Shift | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | NR_027706-G126Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | ALDH7A1-K439Q | het unknown | 0.072 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CASP8AP2-T1567Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | CASP8AP2-S1568Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | ERCC2-K751Q | het unknown | 0.218 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ERCC2-D312N | het unknown | 0.145 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.032 (benign), Testable gene in GeneTests with associated GeneReview |
| 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 | TMEM67-I604V | homozygous | 0.710 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 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 | TOX-N122S | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.852 (probably damaging) |
| 0.5 | NAT2-R197Q | het unknown | 0.272 | Recessive pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | NAT2-R268K | homozygous | 0.675 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | ZNF530-H110Q | het unknown | 0.727 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF530-H509Y | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.996 (probably damaging) |
| 0.5 | FGFR1-D133Del | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FPR1-E346A | homozygous | 0.800 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FPR1-N192K | het unknown | 0.516 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FPR1-V101L | het unknown | 0.336 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FPR1-I11T | homozygous | 0.831 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | FER1L6-D1110E | homozygous | 0.780 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FER1L6-R1720Q | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 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 | TRMT12-D195E | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.015 (benign) |
| 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 | INVS-G801E | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | IKBKAP-P1158L | het unknown | 0.268 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | IKBKAP-C1072S | het unknown | 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 | IKBKAP-I816L | het unknown | 0.316 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | IKBKAP-G765E | het unknown | 0.315 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | IKBKAP-R525Q | het unknown | 0.088 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, 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 | KIF24-W218L | het unknown | 0.050 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | RECQL4-R1005Q | homozygous | 0.258 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 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-E267D | het unknown | 0.471 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, 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 | TG-Q515E | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TG-D1312G | het unknown | 0.344 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TG-D1838N | het unknown | 0.304 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.061 (benign), 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 | TG-A2747T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | ZC3H3-P857S | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.994 (probably damaging) |
| 0.5 | ZC3H3-R528W | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.876 (probably damaging) |
| 0.5 | ZC3H3-S452G | het unknown | 0.754 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PLEC-A3171V | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PLEC-R2969H | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | PLEC-S2791P | het unknown | 0.272 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PLEC-Q2470R | het unknown | 0.050 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PLEC-A2194V | het unknown | 0.210 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PLEC-H1459R | het unknown | 0.512 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PLEC-R1386Q | het unknown | 0.276 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PLEC-A641V | het unknown | 0.210 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPT-H14N | homozygous | 0.363 | 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 | het unknown | 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 | ZSCAN4-E387K | het unknown | 0.012 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.985 (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 | SYNE1-G8323A | homozygous | 0.310 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SYNE1-F7302V | homozygous | 0.991 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SYNE1-L5015M | homozygous | 0.866 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SYNE1-S4596T | homozygous | 0.800 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SYNE1-K4121R | homozygous | 0.835 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SYNE1-E4060D | het unknown | 0.539 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SYNE1-T2659N | het unknown | Unknown | 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-A3474T | het unknown | 0.501 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-M4172V | homozygous | 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 | DNAH11-K4508R | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GARS-P42A | homozygous | 0.654 | 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 | LAMA2-G1584S | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | LAMA2-A2585V | homozygous | 0.594 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SLC22A16-V252A | het unknown | 0.086 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.609 (possibly damaging) |
| 0.5 | SLC22A16-H49R | homozygous | 0.333 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | DSE-T25I | het unknown | 0.172 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.012 (benign) |
| 0.5 | DSE-P34L | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.953 (probably damaging) |
| 0.5 | FAM26F-T100A | het unknown | 0.614 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FAM26F-E293K | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.855 (probably damaging) |
| 0.5 | RSPH4A-R556H | het unknown | 0.203 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | RSPH4A-L589P | homozygous | 0.707 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TXNDC3-C208R | homozygous | 0.740 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NR_024390-W43* | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | NR_024390-A104P | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | CFTR-V470M | homozygous | 0.621 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | AK094748-D110A | het unknown | 0.049 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | AK094748-S134G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | AK094748-S209Shift | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | CLCN1-H29P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 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 | homozygous | 0.325 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NOS3-D298E | homozygous | 0.844 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | BC032716-Y42Shift | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | CYP3A7-R409T | homozygous | 0.669 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | POR-A503V | het unknown | 0.227 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCB1-S893A | homozygous | 0.625 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | AKAP9-K1335KQ | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | AKAP9-M1400T | het unknown | 0.070 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AKAP9-K2484R | het unknown | 0.075 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AKAP9-P2979S | homozygous | 0.997 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 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 | 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 | KCNQ2-N780T | homozygous | 0.509 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ARSE-G424S | homozygous | 0.543 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | EPRS-Y419C | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.946 (probably damaging) |
| 0.5 | EPRS-D308E | het unknown | 0.896 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | OBSCN-Q502R | het unknown | 0.733 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.98 (probably damaging) |
| 0.5 | OBSCN-A908T | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.008 (benign) | |
| 0.5 | OBSCN-H1158L | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) |
| 0.5 | OBSCN-V1508D | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.005 (benign) |
| 0.5 | OBSCN-D2106E | het unknown | 0.723 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.04 (benign) |
| 0.5 | OBSCN-W2109R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | OBSCN-F2116L | het unknown | 0.710 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.182 (benign) |
| 0.5 | OBSCN-G5626D | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | OBSCN-A7172V | homozygous | 0.644 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.012 (benign) |
| 0.5 | AGT-M268T | het unknown | 0.733 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | AGT-T207M | het unknown | 0.093 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CD46-A353V | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, 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 | TNNT2-E155Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | CFH-V62I | het unknown | 0.495 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CFH-H402Y | homozygous | 0.818 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CFH-E936D | homozygous | 0.209 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.504 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CFHR2-C72Y | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.968 (probably damaging) |
| 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 | KAL1-V534I | homozygous | 0.543 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | EDARADD-M9I | homozygous | 0.726 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MTR-D919G | het unknown | 0.262 | Complex/Other protective | Low clinical importance, uncertain | This variant was weakly associated with a protective effect vs. colorectal cancer, but only in individuals with low alcohol consumption. |
| 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 | TRIOBP-S217N | homozygous | 0.413 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests |
| 0.5 | TRIOBP-N863K | homozygous | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests |
| 0.5 | TRIOBP-F1187L | homozygous | 0.320 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests |
| 0.5 | TRIOBP-H1300R | homozygous | 0.431 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.006 (benign), Testable gene in GeneTests |
| 0.5 | TRIOBP-W1377R | homozygous | 0.964 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.084 (benign), Testable gene in GeneTests |
| 0.5 | NR_027251-H75Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | THADA-C1605Y | het unknown | 0.137 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.387 (possibly damaging) |
| 0.5 | THADA-T1187A | het unknown | 0.149 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.384 (possibly damaging) |
| 0.5 | PLB1-V212L | het unknown | 0.174 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.951 (probably damaging) |
| 0.5 | PLB1-H879D | homozygous | 0.690 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PLB1-R882H | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
| 0.5 | PLB1-A987V | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.131 (benign) |
| 0.5 | PLB1-A1318V | het unknown | 0.247 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.993 (probably damaging) |
| 0.5 | BC036832-Q62* | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | TPO-A373S | homozygous | 0.188 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | TPO-S398T | homozygous | 0.684 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.988 (probably damaging), Testable gene in GeneTests |
| 0.5 | APOB-S4338N | homozygous | 0.725 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | APOB-E4181K | het unknown | 0.121 | 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-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-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 | HDAC10-R496W | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.887 (probably damaging) |
| 0.5 | TUBGCP6-R1763W | het unknown | 0.020 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) |
| 0.5 | TUBGCP6-V1621L | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TUBGCP6-T1377A | het unknown | 0.408 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 0.5 | TUBGCP6-L567S | het unknown | 0.860 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.012 (benign) |
| 0.5 | IER5-V168I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | IER5-Q202R | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | IER5-P285S | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | DARS2-G338E | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.091 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | AL157420-F154Shift | homozygous | 0.417 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift |
| 0.5 | AL157420-L130Shift | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | 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 |
| 0.5 | STIL-A86V | homozygous | 0.633 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CPT2-V368I | homozygous | 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 | LRP8-R952Q | het unknown | 0.130 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | EPB41-V214I | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.899 (probably damaging) |
| 0.5 | FAM46B-H416R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.968 (probably damaging) | |
| 0.5 | FAM46B-T20K | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.105 (benign) | |
| 0.5 | F9-T194A | homozygous | 0.144 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | RNF186-E139Q | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.902 (probably damaging) |
| 0.5 | RNF186-A23T | het unknown | 0.300 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.385 (possibly damaging) |
| 0.5 | XIAP-Q423P | homozygous | 0.277 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.053 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | AIM1L-E409Q | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
| 0.5 | AIM1L-S249N | homozygous | 0.457 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | INADL-E362A | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.96 (probably damaging) |
| 0.5 | INADL-I870M | homozygous | 0.983 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | INADL-G1178S | het unknown | 0.405 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | INADL-R1282H | homozygous | 0.497 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.01 (benign) |
| 0.5 | INADL-V1360L | homozygous | 0.563 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ALG6-Y131H | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.01 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALG6-S306F | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | FLG-Q1914R | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RHBG-G76D | 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 | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | F5-M1764V | het unknown | 0.273 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | F5-K925E | het unknown | 0.196 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | F5-H865R | het unknown | 0.238 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | F5-K858R | het unknown | 0.239 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | F5-Q534R | het unknown | 0.991 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SELE-S149R | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.978 (probably damaging) |
| 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-K2366Q | homozygous | 0.152 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.875 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DMD-R1745H | homozygous | 0.387 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), 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 | LEPR-K656N | het unknown | 0.098 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.454 (possibly damaging), Testable gene in GeneTests |
| 0.5 | DPYD-V732I | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.905 (probably damaging), Testable gene in GeneTests |
| 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 | DBT-S384G | homozygous | 0.869 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 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 | 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-E224G | homozygous | 0.779 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ANKRD53-R349L | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.047 (benign) | |
| 0.5 | ANKRD53-M500T | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) | |
| 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 | DRD3-G9S | homozygous | 0.482 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | COL6A6-A370T | homozygous | 0.454 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.86 (probably damaging) |
| 0.5 | COL6A6-Y1655C | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | COL6A6-H1799R | het unknown | 0.601 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MME-M8V | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.974 (probably damaging) |
| 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 | 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 | PLAC4-R44P | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | PLAC4-R42Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | CCR5-S185Shift | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | IQCF2-R4Q | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.966 (probably damaging) |
| 0.5 | CBR3-C4Y | homozygous | 0.391 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.002 (benign) |
| 0.5 | KCNE1-S38G | homozygous | 0.710 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | NRIP1-R448G | het unknown | 0.029 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | EPHA5-N81T | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.978 (probably damaging) |
| 0.5 | FAM175A-D373N | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.899 (probably damaging) |
| 0.5 | AGPAT9-R386K | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | ZBTB46-A109S | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.984 (probably damaging) |
| 0.5 | N4BP2-S101I | het unknown | 0.109 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.127 (benign) |
| 0.5 | N4BP2-D611N | homozygous | 0.817 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | N4BP2-G1737R | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | TLR6-S249P | homozygous | 0.855 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 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 | het unknown | 0.871 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 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 | CC2D2A-E229Del | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TLR1-H720P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | TLR1-S602I | homozygous | 0.727 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | TLR1-N248S | het unknown | 0.643 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | CCBP2-V41A | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.97 (probably damaging) |
| 0.5 | MLH1-I219V | homozygous | 0.124 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SCN1A-A1056T | homozygous | 0.806 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SCN1A-T303S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 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 | CASP10-L522I | homozygous | 0.309 | 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 | ALS2-N346S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | SCN3A-G1862C | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.893 (probably damaging) |
| 0.5 | NEB-R4389T | het unknown | 0.724 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-V1491M | homozygous | 0.453 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-Y1301H | homozygous | 0.668 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-K1027N | homozygous | 0.476 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DYSF-R1040Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | DYSF-R1349L | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-S2574N | homozygous | 0.144 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-D2672H | homozygous | 0.136 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-N2944K | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | PRODH-R521Q | homozygous | 0.887 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PRODH-W185R | het unknown | 0.826 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PRODH-P30S | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | RANBP2-E580K | 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-P2505T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | BMPR2-S775N | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CPS1-T344A | homozygous | 0.583 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ATG16L1-T300A | homozygous | 0.347 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | KIAA2013-R437S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | KIAA2013-C400R | het unknown | 0.020 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | RAF1-Q34Y | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RFTN1-D515Shift | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | RFTN1-V421I | het unknown | 0.244 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.235 (possibly damaging) |
| 0.5 | NCL-E171Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | NCL-I170Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | SLC19A1-H27R | homozygous | 0.447 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.002 (benign) |
| 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 | IGFBP5-R138W | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.937 (probably damaging) |
| 0.5 | OBSL1-R1767Q | homozygous | 0.491 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 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-R723K | homozygous | 0.770 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MOGAT1-A280Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | MLL5-G999C | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.961 (probably damaging) |
| 0.5 | GRIN3B-T157M | het unknown | 0.183 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.938 (probably damaging) |
| 0.5 | GRIN3B-D173E | het unknown | 0.140 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.012 (benign) |
| 0.5 | GRIN3B-R404W | het unknown | 0.360 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.976 (probably damaging) |
| 0.5 | GRIN3B-W414R | het unknown | 0.681 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | GRIN3B-G466Shift | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | GRIN3B-T577M | het unknown | 0.347 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | GRIN3B-A832E | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.009 (benign) |
| 0.5 | GRIN3B-Y966N | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | GRIN3B-Q1006E | het unknown | 0.433 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.051 (benign) |
| 0.5 | GRIN3B-APAEAPPHS1028Del | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | FCHO1-R186Q | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.982 (probably damaging) |
| 0.5 | SLC24A6-C559Y | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.942 (probably damaging) |
| 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 | het unknown | 0.283 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | KIF5A-P986L | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | GCSH-S21L | homozygous | 0.750 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FAM187B-W231* | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | FAM187B-V216I | homozygous | 0.177 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | FAM187B-W188* | homozygous | 0.277 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Nonsense mutation |
| 0.5 | FAM187B-C160R | homozygous | 0.462 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | INHBE-P27L | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.961 (probably damaging) |
| 0.5 | GPR109A-I156V | het unknown | 0.011 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.909 (probably damaging) |
| 0.5 | SFSWAP-L421P | homozygous | 0.942 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SFSWAP-T440Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | SFSWAP-T440Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | SH2B1-T484A | het unknown | 0.217 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | HTR2A-H452Y | het unknown | 0.098 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.489 (possibly damaging) |
| 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 | FAM125A-D249N | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (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 | ZNF84-K550R | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.982 (probably damaging) |
| 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 | PABPC3-A114T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | PABPC3-E345* | het unknown | 0.044 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | PABPC3-K444M | het unknown | 0.218 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | KRT6C-V481I | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | KRT6B-G499S | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | KRT6B-I365V | het unknown | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CLECL1-S52Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | CLECL1-H7Q | het unknown | 0.060 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.944 (probably damaging) |
| 0.5 | WDR62-L850S | homozygous | 0.677 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | WDR62-Q1310L | homozygous | 0.726 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | WDR62-Q1316E | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | WDR62-L1390F | homozygous | 0.736 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 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 | SLCO1B3-P280Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | ABCA7-E188G | het unknown | 0.307 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.239 (possibly damaging) |
| 0.5 | ABCA7-T319A | het unknown | 0.134 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ABCA7-H395R | het unknown | 0.128 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.01 (benign) |
| 0.5 | ABCA7-R463H | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.975 (probably damaging) |
| 0.5 | ABCA7-N718T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | ABCA7-G1527A | homozygous | 0.800 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ABCA7-Q1686R | het unknown | 0.073 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.486 (possibly damaging) |
| 0.5 | ABCA7-A2045S | het unknown | 0.746 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | VWF-D1472H | het unknown | 0.312 | 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 | homozygous | 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-SS754RT | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, 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 | PER1-A962P | homozygous | 0.709 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.212 (possibly damaging) |
| 0.5 | PER1-P859S | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.891 (probably damaging) |
| 0.5 | PER1-RA568QS | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | WNK1-A141T | het unknown | 0.051 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | WNK1-T1056P | het unknown | 0.838 | 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-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 | GALNT8-G245E | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) |
| 0.5 | NLRP1-M1184V | het unknown | 0.433 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NLRP1-V1059M | het unknown | 0.165 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.006 (benign) |
| 0.5 | NLRP1-Q533H | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) |
| 0.5 | NLRP1-L155H | het unknown | 0.120 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.064 (benign) |
| 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-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 | MPND-P423L | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | KRT83-H493Y | het unknown | 0.791 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | KRT83-I279M | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | PLIN5-R306W | het unknown | 0.026 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | PLIN5-C255R | het unknown | 0.888 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.031 (benign) |
| 0.5 | MLL2-P813L | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests |
| 0.5 | COL2A1-V1331I | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 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 | 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-N551K | het unknown | 0.121 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRRK2-R1398H | het unknown | 0.123 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRRK2-S1647T | het unknown | 0.294 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRRK2-M2397T | homozygous | 0.526 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ENO3-N71S | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | ENO3-V85A | het unknown | 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 | 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 | het unknown | 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 | het unknown | 0.355 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DOCK9-R18W | het unknown | 0.044 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | MGA-T716S | homozygous | 0.780 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MGA-Y1453C | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | MGA-P1523A | het unknown | 0.260 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.998 (probably damaging) |
| 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 | ELL3-W140R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.983 (probably damaging) |
| 0.5 | ZFYVE19-R48Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | ZFYVE19-S376A | homozygous | 0.814 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | POLG-E1143G | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | SERPINA12-R211* | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | VPS33B-G514S | het unknown | 0.767 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | VPS33B-R389Q | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests |
| 0.5 | NM_001080841-R42C | het unknown | 0.328 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NM_001080841-R85C | het unknown | 0.209 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NM_001080841-R102* | het unknown | 0.026 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | SPG11-F463S | homozygous | 0.470 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC28A2-P22L | homozygous | 0.248 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SLC28A2-S75R | homozygous | 0.253 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | NR2E3-T318Shift | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift, Testable gene in GeneTests |
| 0.5 | HEXA-I436V | homozygous | 0.748 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | BBS4-I354T | homozygous | 0.399 | 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-T1660I | homozygous | 0.106 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 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 | 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 | CYP19A1-R264C | het unknown | 0.113 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | SLC28A1-L140LV | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | SLC28A1-D521N | homozygous | 0.226 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | ATXN3-V212M | homozygous | 0.358 | 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 | TEP1-I2486M | het unknown | 0.373 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TEP1-V2214I | het unknown | 0.326 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TEP1-S1195P | homozygous | 0.703 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 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 | TEP1-S116P | het unknown | 0.363 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TEP1-S106F | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TPSG1-R193H | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.091 (benign) |
| 0.5 | TPSG1-S138F | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.941 (probably damaging) |
| 0.5 | CMA1-H66R | het unknown | 0.012 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.963 (probably damaging) |
| 0.5 | TTC5-Y309C | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.996 (probably damaging) |
| 0.5 | TTC5-Q47R | het unknown | 0.767 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 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 | AK311524-V28A | homozygous | 0.903 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | AK311524-W181Shift | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | OR2C1-C149W | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | OR2C1-F273Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | CPAMD8-Q1890R | het unknown | 0.201 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CPAMD8-T1315I | het unknown | 0.698 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CPAMD8-H593R | homozygous | 0.639 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CPAMD8-D586E | het unknown | 0.380 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CPAMD8-V369M | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | CPAMD8-M368I | het unknown | 0.189 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CPAMD8-V355I | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | CPAMD8-R341W | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | CPAMD8-M312T | homozygous | 0.733 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FANCM-S175F | het unknown | 0.242 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FANCM-V878L | het unknown | 0.268 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FANCM-I1460V | het unknown | 0.078 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FANCM-P1812A | het unknown | 0.062 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.958 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | C14orf104-D768G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | C14orf104-E62D | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | ZFYVE26-S1893I | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.838 (possibly damaging), 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-V963L | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.028 (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 | YLPM1-Q118T | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | YLPM1-P254L | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.981 (probably damaging) |
| 0.5 | MLH3-P844L | het unknown | 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 | SYNE2-M1969T | homozygous | 0.637 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-A2284V | homozygous | 0.637 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-S2359N | homozygous | 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-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 | homozygous | 0.622 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SYNE2-D3253H | homozygous | 0.684 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-H3309R | homozygous | 0.647 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | SYNE2-K3523Q | het unknown | 0.056 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.75 (possibly damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-N3982H | het unknown | 0.135 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.846 (possibly damaging), Testable gene in GeneTests |
| 0.5 | MRPL28-H27Y | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) | |
| 0.5 | NID2-G760V | homozygous | 0.894 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NID2-S656P | homozygous | 0.859 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NID2-P529S | het unknown | 0.015 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.871 (probably damaging) |
| 0.5 | NID2-G453D | homozygous | 0.545 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NID2-P22Q | homozygous | 0.728 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TXNDC16-D564G | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.831 (possibly damaging) |
| 0.5 | TXNDC16-E486K | het unknown | 0.262 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.011 (benign) |
| 0.5 | TXNDC16-A180G | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging) |
| 0.5 | ICAM1-K469E | het unknown | 0.297 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | SLCO1B1-N130D | het unknown | 0.663 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | SLCO1B1-P155T | het unknown | 0.071 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 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 | NRAP-L1684Q | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.981 (probably damaging) | |
| 0.5 | NRAP-R1566C | homozygous | 0.348 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.853 (probably damaging) |
| 0.5 | NRAP-L1531P | het unknown | 0.079 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.928 (probably damaging) |
| 0.5 | NRAP-I1183V | het unknown | 0.461 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NRAP-R884C | het unknown | 0.181 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.97 (probably damaging) |
| 0.5 | NRAP-N519I | het unknown | 0.263 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.974 (probably damaging) |
| 0.5 | NRAP-P299L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | NRAP-A282T | het unknown | 0.281 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NRAP-V208A | het unknown | 0.914 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | LYPD4-T184S | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.983 (probably damaging) |
| 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 | homozygous | 0.557 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GH1-T3A | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AVPI1-L36R | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.924 (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 | PDCD11-V899A | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.968 (probably damaging) |
| 0.5 | PDCD11-L1216F | het unknown | 0.455 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PDCD11-D1871A | het unknown | 0.341 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | BRIP1-S919P | homozygous | 0.652 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 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 | LRDD-R652W | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | LRDD-Q331R | het unknown | 0.350 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | LRDD-QP57L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | LRDD-V55Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | LRDD-H52Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | H19-G355R | homozygous | 0.359 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | H19-V94I | homozygous | 0.361 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | H19-W38R | homozygous | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | H19-T25M | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SCUBE2-H712Q | homozygous | 0.991 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SCUBE2-T285M | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 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 | EPN3-R170H | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.933 (probably damaging) |
| 0.5 | EPN3-P544T | het unknown | 0.364 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ARMS2-A69S | het unknown | 0.294 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AP1S2-T35A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | AP1S2-R29P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | DOCK1-S1756L | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.981 (probably damaging) |
| 0.5 | DOCK1-A1857T | homozygous | 0.855 | 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-K640E | homozygous | 0.593 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | STAMBPL1-E204K | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.97 (probably damaging) |
| 0.5 | SLC34A3-R67H | het unknown | 0.049 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SLC34A3-E513V | het unknown | 0.915 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ECHDC3-R20C | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.961 (probably damaging) | |
| 0.5 | ECHDC3-A69T | homozygous | 0.836 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ECHDC3-A151T | homozygous | 0.873 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NDOR1-R30G | het unknown | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.894 (probably damaging) |
| 0.5 | NOTCH1-R1279H | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | POMT1-V305I | het unknown | 0.053 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | POMT1-D411E | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TXNDC2-P231A | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.855 (probably damaging) | |
| 0.5 | DBH-A211T | homozygous | 0.115 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | OLAH-A219P | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.871 (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 | CDH23-S494N | het unknown | 0.273 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-N1349D | homozygous | 0.772 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-A1572T | homozygous | 0.720 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-R1801Q | het unknown | 0.172 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-T1996S | het unknown | 0.248 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-E2041K | het unknown | 0.344 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-R2355Q | het unknown | 0.349 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-P2377L | het unknown | 0.338 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ANXA11-R230C | het unknown | 0.382 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | MIF4GD-Q126Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | CROCC-R7G | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CROCC-A439V | het unknown | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | CROCC-P493L | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | CROCC-P511S | het unknown | 0.904 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.94 (probably damaging) |
| 0.5 | CROCC-D586H | het unknown | 0.270 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.991 (probably damaging) |
| 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 | PPYR1-V276M | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.889 (probably damaging) | |
| 0.5 | BCAM-P392Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests | |
| 0.5 | BCAM-S447L | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.051 (benign), Testable gene in GeneTests |
| 0.5 | BCAM-T539A | het unknown | 0.261 | Unknown benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | BCAM-Q581L | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.79 (possibly damaging), Testable gene in GeneTests |
| 0.5 | ITGB4-L1779P | homozygous | 0.486 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MKI67-K3217E | het unknown | 0.426 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.017 (benign) |
| 0.5 | MKI67-T3150S | het unknown | 0.404 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MKI67-T2868S | het unknown | 0.141 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | MKI67-R2786Q | het unknown | 0.154 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.969 (probably damaging) |
| 0.5 | MKI67-P2608L | het unknown | 0.427 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | MKI67-N2363S | het unknown | 0.426 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MKI67-E1403V | het unknown | 0.112 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | MKI67-G1042S | het unknown | 0.148 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.265 (possibly damaging) |
| 0.5 | MKI67-R123H | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | MKI67-N104S | het unknown | 0.618 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.417 (possibly damaging) |
| 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 | VPS37C-L198S | homozygous | 0.849 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | VPS37C-T8N | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.985 (probably damaging) |
| 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 | CD226-S307G | het unknown | 0.423 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | TNFRSF11A-H141Y | het unknown | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.909 (probably damaging), Testable gene in GeneTests |
| 0.5 | TNFRSF11A-A192V | het unknown | 0.625 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SLC6A5-G102S | het unknown | 0.420 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC6A5-F124S | het unknown | 0.803 | 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 | SLC6A5-K457N | het unknown | 0.065 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.051 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC6A5-D463N | het unknown | 0.177 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.122 (benign), Testable gene in GeneTests with associated GeneReview |
| 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 | FLII-F20L | het unknown | 0.011 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | LRFN1-D709Shift | het unknown | 0.011 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | DPAGT1-I393V | homozygous | 0.431 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PRX-G1132R | homozygous | 0.978 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PRX-V882A | het unknown | 0.493 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview |
| 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 | PCNXL3-Q258R | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PCNXL3-S458C | het unknown | 0.248 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.065 (benign) |
| 0.5 | PCNXL3-R1917Q | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.932 (probably damaging) |
| 0.5 | CYP2B6-Q172H | homozygous | 0.295 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.009 (benign) |
| 0.5 | CYP2B6-K262R | homozygous | 0.298 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 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 | 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 | SLC4A1-K56E | het unknown | 0.078 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | JUP-M697L | homozygous | 0.520 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MRGPRX1-F273L | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.941 (probably damaging) |
| 0.5 | MRGPRX1-A46T | het unknown | 0.244 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.033 (benign) |
| 0.375 | FANCA-G501S | het unknown | 0.654 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | FANCA-V6D | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.375 | 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 |
| 0.375 | IDUA-H82Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.375 | PMS2-K541E | het unknown | 0.904 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | PMS2-R20Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.375 | APC-V1822D | het unknown | 0.887 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | APC-S2621C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.375 | RPGRIP1-K192E | het unknown | 0.446 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | RPGRIP1-Q589H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.375 | RPGRIP1-E1033Q | het unknown | 0.256 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL6A2-S399N | het unknown | 0.727 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL6A2-R680H | het unknown | 0.389 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (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 | 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 | 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 | 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 | KRT14-A94T | het unknown | 0.269 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | KRT14-C63Y | het unknown | 0.976 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL6A1-S890L | het unknown | 0.203 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TSEN54-E4D | het unknown | 0.675 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TSEN54-H38Q | het unknown | 0.166 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | 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 |
| 0.25 | TSEN54-Q389P | het unknown | 0.111 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.053 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | 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 |
| 0.25 | CASQ2-T66A | het unknown | 0.427 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CFHR1-H157Y | het unknown | 0.169 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CFHR1-L159V | het unknown | 0.473 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CFHR1-E175Q | het unknown | 0.518 | 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 | C1orf106-P486Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | C1orf106-R538C | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | CASP8-K14R | het unknown | 0.640 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | CASP8-K82R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | GUCY2D-L782H | het unknown | 0.165 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL11A1-S1547P | het unknown | 0.752 | 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 | ALPL-Y263H | het unknown | 0.286 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | DSC3-R102K | het unknown | 0.479 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | DSC3-S78T | het unknown | 0.478 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.314 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | FANCI-A86V | het unknown | 0.219 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | FANCI-C742S | het unknown | 0.234 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TYK2-V362F | het unknown | 0.268 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 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 | CABIN1-R853Q | het unknown | 0.122 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CABIN1-Q1564Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | MOGS-P293S | het unknown | 0.619 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MOGS-D239N | het unknown | 0.561 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.031 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | XYLT2-P418L | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.137 (benign) |
| 0.25 | XYLT2-T801R | het unknown | 0.225 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.25 | LCE4A-C48CCSSGGC | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | LCE4A-Q85Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | ERBB2-I655V | het unknown | 0.121 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.18 (benign) |
| 0.25 | ERBB2-P1170A | het unknown | 0.275 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.983 (probably damaging) |
| 0.25 | LMNA-L15P | het unknown | 0.227 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | LMNA-M174T | het unknown | 0.289 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MYH3-A1759AKKA | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | MYH3-A1192T | homozygous | 0.544 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | ZNF317-Q19H | het unknown | 0.108 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.25 | ZNF317-Q19H | het unknown | 0.108 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.25 | LRRC50-L633S | het unknown | 0.261 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | LRRC50-L659P | het unknown | 0.352 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | LRRC50-S675T | het unknown | 0.363 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | MRC2-SI275RS | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | MRC2-E278Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | MRC2-R1156H | homozygous | 0.790 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 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 | DL492456-R148H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | DL492456-Y109C | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | DL492456-W104* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 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 | 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 | ARHGEF18-Q701R | het unknown | 0.863 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ARHGEF18-Q891* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | ARHGEF18-N1019S | het unknown | 0.667 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 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 | 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 | RYR2-Q2958R | het unknown | 0.133 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | AGL-P1067S | het unknown | 0.125 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.984 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | TK2-R74W | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | TK2-K30R | het unknown | 0.270 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | GLI2-A1156S | het unknown | 0.536 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | GLI2-D1306N | het unknown | 0.595 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | IRS2-G1057D | het unknown | 0.232 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.024 (benign) |
| 0.25 | TNS1-V1604I | homozygous | 0.654 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | TNS1-W1197R | homozygous | 0.697 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | TNS1-L432Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | FAM20C-I320Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | FAM20C-N564D | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | PARK2-V380L | het unknown | 0.169 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SLC22A2-S270A | het unknown | 0.876 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | 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 | BBS9-A455T | het unknown | 0.135 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | GLI3-T183A | het unknown | 0.663 | 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 | NPSR1-N107I | het unknown | 0.462 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.25 | NPSR1-S241R | homozygous | 0.304 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.019 (benign) |
| 0.25 | SOD2-V16A | het unknown | 0.362 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | TGFB1-P10L | het unknown | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, 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 | PEX6-P939Q | het unknown | 0.339 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | KIF6-W719R | het unknown | 0.538 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.01 (benign) |
| 0.25 | EHBP1L1-V133L | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | EHBP1L1-A147Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | EHBP1L1-R307Q | het unknown | 0.509 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.19 (benign) |
| 0.25 | EHBP1L1-V538G | het unknown | 0.411 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.992 (probably damaging) |
| 0.25 | EHBP1L1-D569V | homozygous | 0.940 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | TRIB3-Q84R | het unknown | 0.188 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 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 | F2-T165M | het unknown | 0.280 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.346 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | PTPRJ-Q276P | het unknown | 0.173 | Complex/Other not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.007 (benign) |
| 0.25 | PTPRJ-R326Q | het unknown | 0.249 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.004 (benign) |
| 0.25 | NM_001161833-M27T | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | NM_001161833-A43Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | NM_001161833-T58A | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | NM_001161833-P189R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 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 | MYH14-P31T | het unknown | 0.147 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | MYH14-G384C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | FAM35A-K63E | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | FAM35A-E66D | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | FAM35A-S74C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | FAM35A-T606Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | PLCE1-R548L | het unknown | 0.188 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests |
| 0.25 | PLCE1-R1575P | het unknown | 0.517 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SIX5-P635S | het unknown | 0.533 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | SIX5-L556V | het unknown | 0.833 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | PTF1A-S263P | het unknown | 0.654 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests |
| 0.25 | SETX-I2587V | het unknown | 0.591 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SETX-T1855A | het unknown | 0.508 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SETX-I1386V | het unknown | 0.494 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SETX-G1252R | het unknown | 0.494 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SETX-D1192E | het unknown | 0.598 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | KDM4C-A419Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | KDM4C-V1039I | homozygous | 0.318 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.005 (benign) |
| 0.25 | CD3EAP-K428Del | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | CD3EAP-Q504K | het unknown | 0.284 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.002 (benign) |
| 0.25 | RP1-N985Y | het unknown | 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. |
| 0.25 | RP1-C2033Y | het unknown | 0.186 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests |
| 0.25 | EPHX2-K55R | het unknown | 0.140 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | EPHX2-R287Q | het unknown | 0.148 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 1.0 (probably damaging) |
| 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 | PON1-Q192R | het unknown | 0.572 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.25 | PON1-L55M | het unknown | 0.230 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.25 | LRRC56-R467Q | het unknown | 0.180 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.009 (benign) |
| 0.25 | LRRC56-R477Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | LRRC56-R507G | het unknown | 0.912 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | LRRC56-D523H | het unknown | 0.803 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | KNDC1-T265I | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) | |
| 0.25 | KNDC1-E436G | het unknown | 0.378 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | KNDC1-L717P | homozygous | 0.549 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | KNDC1-V806D | homozygous | 0.360 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.007 (benign) |
| 0.25 | KNDC1-V1017Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | KNDC1-A1057V | het unknown | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.25 | ACADSB-R13K | het unknown | 0.171 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.08 (benign), Testable gene in GeneTests |
| 0.25 | ACADSB-N274D | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | SFTPC-T138N | het unknown | 0.172 | 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 | CALHM1-L86P | het unknown | 1.000 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | KRBA1-S197A | het unknown | 0.133 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | KRBA1-H320R | het unknown | 0.310 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 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 | KRBA1-P774L | het unknown | 0.044 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | PANK2-G126A | het unknown | 0.917 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | HYLS1-C31R | het unknown | 0.322 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests |
| 0.25 | C14orf105-Y235C | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C14orf105-Q183* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | SIX6-H141N | het unknown | 0.314 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | CLDN16-R55Shift | het unknown | 0.172 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift, Testable gene in GeneTests |
| 0.25 | COCH-T352S | het unknown | 0.382 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | COCH-I450V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | UCHL1-S18Y | het unknown | 0.111 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.029 (benign) |
| 0.25 | FNBP1-S490N | homozygous | 0.629 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FNBP1-N328Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | DMP1-S53C | het unknown | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | DMP1-P403S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | UGT2B7-Y268H | het unknown | 0.727 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | HGD-Q80H | het unknown | 0.742 | 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 | COL4A3-G43R | het unknown | 0.239 | 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 | 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 | 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 | TLN2-V2445L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | COL6A3-T3069I | het unknown | 0.364 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL6A3-A3012P | het unknown | 0.843 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL6A3-M2927T | het unknown | 0.674 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | FANCD2-P714L | het unknown | 0.246 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | XRCC3-T241M | het unknown | 0.218 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.188 (benign) |
| 0.25 | TRPM1-R1422C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | TRPM1-S32N | het unknown | 0.786 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | TRPM1-M1T | het unknown | 0.898 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | TMEM43-K168N | het unknown | 0.335 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.064 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | TMEM43-M179T | het unknown | 0.487 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | C13orf40-N6729Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | C13orf40-K6544E | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C13orf40-R6075C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C13orf40-L6011P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C13orf40-F5916L | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C13orf40-R5838Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C13orf40-N5750S | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C13orf40-R5644T | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C13orf40-S4943P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C13orf40-A4221S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C13orf40-V3805I | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C13orf40-K3640N | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C13orf40-D3446E | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C13orf40-T3015I | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C13orf40-T2812P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C13orf40-G2410R | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C13orf40-E2111Q | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C13orf40-A1822P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C13orf40-R1070S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C13orf40-L1005P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C13orf40-P773L | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C13orf40-I96V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C13orf40-C82S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | MTRR-S202L | het unknown | 0.285 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MTRR-K377R | het unknown | 0.260 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MTRR-H622Y | het unknown | 0.218 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | FLT4-H890Q | het unknown | 0.355 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.714 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | NPHS1-N1077S | het unknown | 0.132 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests |
| 0.25 | NPHS1-E117K | het unknown | 0.297 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests |
| 0.25 | MSX2-M129T | het unknown | 0.716 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | DSP-R1738Q | het unknown | 0.236 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.295 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | TRIM15-S324N | het unknown | 0.155 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | SCNN1A-T722A | homozygous | 0.790 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SCNN1A-R240W | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 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 | CDSN-N527D | homozygous | 0.849 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CDSN-L410S | het unknown | 0.699 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CDSN-F202S | het unknown | 0.288 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CDSN-S153Del | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | CDSN-N143S | homozygous | 0.848 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CDSN-M18L | het unknown | 0.298 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 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 | CELA1-L210Shift | het unknown | 0.156 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift |
| 0.25 | CELA1-M59V | het unknown | 0.142 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.24 (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 | GHR-I544L | het unknown | 0.473 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests |
| 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-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 | het unknown | 0.768 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SUCLA2-S199T | het unknown | 0.722 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SACS-V3369A | het unknown | 0.244 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.769 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | CMYA5-A1295V | het unknown | 0.630 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CMYA5-I1380V | het unknown | 0.103 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CMYA5-L1669S | het unknown | 0.103 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.981 (probably damaging) |
| 0.25 | CMYA5-E1952Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | CMYA5-E1952A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | CMYA5-P4063L | homozygous | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | MKKS-G532V | het unknown | 0.218 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.067 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | MKKS-R517C | het unknown | 0.215 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | KRT5-D197E | het unknown | 0.276 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | SRA1-V110RL | het unknown | 0.360 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | VCAN-K1516R | het unknown | 0.480 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | VCAN-R1826H | het unknown | 0.349 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | VCAN-F2301Y | het unknown | 0.462 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | VCAN-D2937Y | het unknown | 0.352 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview |
| 0 | ERCC6-H78Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 0 | AGXT-K12Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 0 | CLEC7A-Y238* | het unknown | 0.043 | Recessive pathogenic | Low clinical importance, uncertain | This variant has been found to impair homan mucosal antifungal defense and was implicated in vulvovaginal candidiasis and mucocutaneous infections in a Dutch family. |
Input file format: CGIVAR
Genome build: b37
Genome coverage: 2,776,857,409 bases (97.2% of callable positions, 90.1% of total positions)
Coding region coverage: 32,921,677 bases (98.9% of all genes, 99.5% of genes with clinical testing available)
Chromosomes: chr1, chr10, chr11, chr12, chr13, chr14, chr15, chr16, chr17, chr18, chr19, chr2, chr20, chr21, chr22, chr3, chr4, chr5, chr6, chr7, chr8, chr9, chrM, chrX, chrY