Variant report for hu38168C
- Data source: CGI sample GS01173-DNA_H06 from PGP sample 91708424
- This report: evidence.pgp-hms.org/genomes?7150c05e2db605f451dfad9e3f270412d5ba4d19
- Person ID: hu38168C
- public profile: my.pgp-hms.org/profile/hu38168C
- Download: source data, dbSNP and nsSNP report (124 MB)
- Processing status: processing
- Show debugging info
Log file:
| Row number | Variant | Clinical Importance | Evidence | Impact | Allele freq | Summary | Sufficient |
|---|---|---|---|---|---|---|---|
| 1 | APOE-C130R | High | Well-established | Well-established pathogenic Complex/Other, Homozygous | 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 | PEX1-I696M | High | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | 0.0270547 | Reported as a mutation causing peroxisome biogenesis disorder in a single patient, presumably in a recessive manner. | 1 |
| 3 | UGT1A1-G71R | Moderate | Likely | Likely pathogenic Complex/Other, Heterozygous | 0.000743632 | This variant, also known as UGT1A1*6, is associated with Gilbert syndrome (found in ~5% of the population) and transient hyperbilirubinemia in infants in east asian populations. This allele appears to have incomplete penetrance and causes reduced enzyme activity. | 1 |
| 4 | OPTN-M98K | Moderate | Uncertain | Uncertain pathogenic Unknown, Heterozygous | 0.0613497 | This variant was initially reported to be a risk factor for glaucoma, but subsequent reports have failed to find a statistically significant association. It may have a modifier effect, with carriers of the variant having lower intraocular pressure on average -- pressures that might be considered normal in other individuals would be abnormally high for carriers of this variant. | 1 |
| 5 | 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 |
| 6 | MBL2-G54D | Low | Likely | Likely pathogenic Recessive, Carrier (Heterozygous) | 0.103923 | This variant is associated with mannose binding protein deficiency which leads to impaired complement system immune response to mannose-rich pathogens. Patients homozygous for this allele or compound heterozygous are likely to have increased susceptibility to infection, but Hellemann et al. report heterosis for intensive care outcomes in heterozygous subjects. The wild-type version of this gene is known as variant allele A, while this is called variant allele B. See R52C (variant D) and G57E (variant C). | 1 |
| 7 | ELAC2-S217L | Low | Uncertain | Uncertain pathogenic Complex/Other, Heterozygous | 0.273471 | Reported to be associated with increased susceptibility to prostate cancer, but later studies weaken the hypothesis. Xu et al.'s meta-analysis concludes that there is a small but significant increased risk (OR = 1.13). Assuming a lifetime risk of 16% for prostate cancer we calculate this leads to an increased risk of ~1.5% (17.5% total). | 1 |
| 8 | LRP5-A1330V | Low | Uncertain | Uncertain pathogenic Complex/Other, Homozygous | 0.110367 | In a study of a UK population this variant was associated with a small increased risk of osteoporosis and osteoporotic bone fractures, with each copy of the variant presumed to have an additive effect. A study in Chinese young men failed to find an association with peak bone density. | 1 |
| 9 | H6PD-R453Q | Low | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | 0.308886 | This common variant may have a small pathogenic effect by contributing to cortisone reductase deficiency (a rare abnormality) when homozygous and combined with a serious pathogenic variant. The same authors have tested and ruled out a contribution to polycystic ovary syndrome (similar phenotype, more common disease). | 1 |
| 10 | 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 |
| 11 | WFS1-R611H | Low | Uncertain | Uncertain not reviewed Recessive, Carrier (Heterozygous) | 0.400446 | This nonsynonymous SNP is associated with Wolfram Syndrome (known as DIDMOAD), which is characterized by early-onset non-autoimmune diabetes mellitus, diabetes insipidus, optic atrophy, and deafness) and to adult Type Two Diabetes Mellitus. The WFS1 gene maps to chromosome 4p16.3. The variant has been shown to be statistically associated with type II diabetes in six UK studies and one study of Ashkenazi Jews (Sandhu, M., et al., Minton et al.). | 1 |
| 12 | 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 |
| 13 | 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 |
| 14 | KCNJ11-K23E | Low | Likely | Likely protective Unknown, Homozygous | 0.738148 | This variant is associated with decreased risk of type 2 diabetes. It is unclear whether this variant has additive effects, or acts in a dominant or recessive manner. Assuming diabetes has a lifetime risk of 36%, we estimate a decreased risk of around 1-2% per copy of this variant. | 1 |
| 15 | 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 |
| 16 | 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 |
| 17 | ADA-D8N | Low | Likely | Likely benign Dominant, Heterozygous | 0.0295359 | This common variant is reported to reduce adenosine deaminase enzyme activity. It has been associated with an increased tendency for non-REM sleep -- more slow wave sleep, less nocturnal wakings, and a stronger negative impact of sleep deprivation. A role for this gene and variant was previously proposed for autism susceptibility, but this is controversial and was not replicated by later studies. | 1 |
| 18 | OCA2-H615R | Low | Likely | Likely benign Complex/Other, Homozygous | 0.000650678 | Associated with lighter skin pigmentation in East Asian populations. | 1 |
| 19 | SLC45A2-E272K | Low | Likely | Likely benign Unknown, Homozygous | 0.0290946 | Pigmentation allele for black hair in Caucasian population. | 1 |
| 20 | GUCY2D-A52S | Low | Uncertain | Uncertain benign Recessive, Homozygous | 0.21016 | One publication suggested that this variant possibly causes Leber's congenital amaurosis in a recessive manner, but the frequency data (36% in 1000 genomes) contradicts any significant pathogenic effect. | 1 |
| 21 | LOXL1-R141L | Low | Uncertain | Uncertain benign Complex/Other, Heterozygous | 0.255899 | Associated with exfoliative glaucoma & syndrome (XFG & XFS) in various populations, but with contradicting results (protective in Caucasians, pathogenic in Japanese). Based on this it seems the variation itself -- although it affects protein structure -- is not itself causing disease. Instead it is likely associated with other nearby causal variants. As such, it is evaluated as benign by GET-Evidence (which focuses on reporting causal variants). See detailed variant report for disease risk associations. | 1 |
| 22 | GAA-E689K | Low | Uncertain | Uncertain benign Complex/Other, Heterozygous | 0.0301845 | This is also known as the GAA*4 allozyme is frequent in the Asian population and appears to have somewhat reduced enzyme activity. Kroos et al. rule out pathogenic effect. | 1 |
| 23 | EDAR-V370A | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.0105968 | Associated with thicker hair, common in Chinese and Japanese individuals and thought to be Asian-specific. | 1 |
| 24 | XPC-L16V | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.00466531 | Reported as a nonpathogenic polymorphism. | 1 |
| 25 | APOB-Y1422C | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.999628 | This position is almost certainly an error in the HG18 reference sequence. | 1 |
| 26 | TPCN2-G734E | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.286166 | Pigmentation allele. | 1 |
| 27 | TAS2R38-A49P | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.431121 | This variant is strongly associated with causing the "taster" phenotype of phenylthiocarbamine (PTC) in a dominant manner. | 1 |
| 28 | ABCC11-G180R | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.0976947 | This variant is associated with dry type ear wax (a benign trait) in a recessive manner. | 1 |
| 29 | GJB2-V27I | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.00269567 | Probable non-pathogenic; other variants in gene associated with hearing loss. A few controversial mutations of uncertain or evolving clinical significance are included in this prototype. Examples include V27I, M34T, V37I, and E114G in the GJB2 gene and IVS2-2AG in the SLC26A5 gene. This variant is also observed both in Case and Control in the study of hearing loss. | 1 |
| 30 | 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 |
| 31 | PCSK9-G670E | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.888269 | This variant is likely benign. | 1 |
| Row number | Variant | Prioritization score | Allele freq | Num of articles | Zygosity and Prioritization Score Reasons | Sufficient |
|---|
Exome coverage: 32858485 / 33212919 = 98.93%
| Row number | Gene | Chromosome | Coverage | Missing | Length | Missing regions |
|---|---|---|---|---|---|---|
| 1 | AGRN | 1 | 0.96823069403715 | 195 | 6138 | 955554-955558, 955565, 955570-955576, 955579, 955582-955590, 955597, 955614, 955617-955619, 955633-955634, 955637, 955656-955659, 955664, 976213, 976216, 977517-977532, 983568, 983601, 983605-983667, 983671-983672, 983679-983745, 984697-984703 |
| 2 | GABRD | 1 | 0.98528329654157 | 20 | 1359 | 1950863-1950873, 1950876-1950877, 1950882-1950886, 1950911, 1950916 |
| 3 | ESPN | 1 | 0.84132553606238 | 407 | 2565 | 6488304, 6488322, 6488325, 6488333, 6488381, 6488389, 6488426-6488432, 6500386-6500392, 6500449-6500488, 6500686-6500715, 6500754-6500791, 6500829-6500868, 6501097-6501103, 6505726-6505739, 6505795, 6505845-6505894, 6505914-6505920, 6508701-6508733, 6508760-6508766, 6508882-6508888, 6508922-6508928, 6508954-6508988, 6511907-6511942, 6512127-6512154, 6517286-6517292 |
| 4 | PLEKHG5 | 1 | 0.98024459078081 | 63 | 3189 | 6534128-6534133, 6534142, 6534148, 6534210-6534224, 6534521-6534559, 6534581 |
| 5 | KIF1B | 1 | 0.98833051006964 | 62 | 5313 | 10356982-10357031, 10357041-10357051, 10425585 |
| 6 | TARDBP | 1 | 0.9718875502008 | 35 | 1245 | 11082339-11082362, 11082519-11082522, 11082599-11082605 |
| 7 | CLCNKA | 1 | 0.99321705426357 | 14 | 2064 | 16354391-16354397, 16360141-16360147 |
| 8 | CLCNKB | 1 | 0.99660852713178 | 7 | 2064 | 16383399-16383405 |
| 9 | ATP13A2 | 1 | 0.99858876658199 | 5 | 3543 | 17322608, 17322611-17322614 |
| 10 | PINK1 | 1 | 0.99942726231386 | 1 | 1746 | 20960292 |
| 11 | HSPG2 | 1 | 0.99521857923497 | 63 | 13176 | 22263648-22263710 |
| 12 | WNT4 | 1 | 0.92140151515152 | 83 | 1056 | 22447958, 22447968-22447972, 22469339-22469415 |
| 13 | SEPN1 | 1 | 0.89028776978417 | 183 | 1668 | 26126722-26126904 |
| 14 | ZMPSTE24 | 1 | 0.99929971988796 | 1 | 1428 | 40737670 |
| 15 | KCNQ4 | 1 | 0.98611111111111 | 29 | 2088 | 41249766-41249785, 41249958-41249960, 41284246-41284249, 41284297, 41284300 |
| 16 | CLDN19 | 1 | 0.99703703703704 | 2 | 675 | 43201567-43201568 |
| 17 | SLC2A1 | 1 | 0.99932386747803 | 1 | 1479 | 43395424 |
| 18 | POMGNT1 | 1 | 0.99798285426122 | 4 | 1983 | 46660232-46660235 |
| 19 | STIL | 1 | 0.99974140160331 | 1 | 3867 | 47765822 |
| 20 | ALG6 | 1 | 0.99738562091503 | 4 | 1530 | 63885049-63885051, 63885067 |
| 21 | LEPR | 1 | 0.99742710120069 | 9 | 3498 | 66083696-66083699, 66083709, 66083712-66083715 |
| 22 | GLMN | 1 | 0.99327731092437 | 12 | 1785 | 92731981-92731984, 92731991-92731997, 92732006 |
| 23 | DPYD | 1 | 0.98148148148148 | 57 | 3078 | 97847981-97848017, 98144698-98144704, 98144723-98144732, 98144735-98144736, 98187068 |
| 24 | AGL | 1 | 0.99717329854316 | 13 | 4599 | 100330082-100330094 |
| 25 | DBT | 1 | 0.99930986887509 | 1 | 1449 | 100672060 |
| 26 | COL11A1 | 1 | 0.97471137987905 | 138 | 5457 | 103364222-103364285, 103364497-103364498, 103435775-103435828, 103440418, 103470164-103470172, 103470188, 103471857-103471863 |
| 27 | GSTM1 | 1 | 0.99847792998478 | 1 | 657 | 110235888 |
| 28 | AMPD1 | 1 | 0.99866310160428 | 3 | 2244 | 115236062-115236064 |
| 29 | HSD3B2 | 1 | 0.99731903485255 | 3 | 1119 | 119964973-119964975 |
| 30 | PHGDH | 1 | 0.99875156054931 | 2 | 1602 | 120286632-120286633 |
| 31 | NOTCH2 | 1 | 0.97680690399137 | 172 | 7416 | 120539665-120539714, 120539739-120539745, 120539778-120539784, 120539913-120539939, 120547962-120547968, 120548048-120548058, 120548091-120548097, 120572544-120572575, 120572609-120572610, 120611957-120611967, 120612000-120612010 |
| 32 | FLG | 1 | 0.88289840800919 | 1427 | 12186 | 152275957-152275963, 152276019-152276052, 152276100-152276115, 152276193-152276199, 152276279-152276322, 152276365-152276389, 152276432-152276471, 152276487-152276493, 152276526, 152276540, 152276548-152276549, 152276555-152276556, 152276560, 152276583, 152276598, 152276616, 152276626-152276628, 152276659-152276660, 152276671, 152276696-152276729, 152276755-152276785, 152276848, 152276855, 152276865, 152276871, 152276886, 152276889, 152276903-152276935, 152277014, 152277021, 152277027, 152277035, 152277044, 152277055, 152277081-152277109, 152277168, 152277277-152277321, 152277336, 152277345, 152277349, 152277363-152277365, 152277371, 152277445-152277473, 152277517-152277557, 152277713-152277721, 152277822, 152277837, 152277842, 152277881-152277907, 152277963-152277994, 152278047-152278049, 152278083-152278096, 152278179-152278202, 152278303-152278309, 152278431-152278437, 152278555, 152278686-152278692, 152278811-152278817, 152278856, 152278876, 152279016-152279022, 152279357-152279363, 152279524-152279530, 152279743, 152279799-152279805, 152279848, 152279889-152279895, 152280170, 152280468-152280474, 152280512-152280519, 152280545-152280576, 152280594-152280617, 152280643-152280674, 152280682-152280695, 152280759, 152280900, 152281039, 152281225-152281231, 152281287-152281307, 152281520-152281537, 152281559-152281592, 152281621-152281649, 152281665-152281714, 152281767-152281774, 152281798-152281824, 152281854-152281879, 152281896-152281914, 152281948-152281949, 152281981-152281994, 152282809-152282815, 152283427-152283473, 152283739, 152284007-152284051, 152284149-152284181, 152284200-152284217, 152284302-152284308, 152284374-152284398, 152284475-152284508, 152284546-152284552, 152284770-152284817, 152284854, 152284879, 152284885, 152284893, 152284912-152284918, 152284958-152284964, 152284997-152285012, 152285033-152285074, 152285099, 152285137, 152285185-152285233, 152285450-152285456, 152285683-152285689 |
| 33 | GBA | 1 | 0.98013656114215 | 32 | 1611 | 155205040-155205046, 155207985-155208009 |
| 34 | TBX19 | 1 | 0.9985152190052 | 2 | 1347 | 168274319-168274320 |
| 35 | F5 | 1 | 0.99970037453184 | 2 | 6675 | 169505880, 169510328 |
| 36 | DARS2 | 1 | 0.99896800825593 | 2 | 1938 | 173802566, 173802578 |
| 37 | HMCN1 | 1 | 0.99982256919801 | 3 | 16908 | 185947061, 186031646-186031647 |
| 38 | PDC | 1 | 0.99865047233468 | 1 | 741 | 186418591 |
| 39 | CDC73 | 1 | 0.99812030075188 | 3 | 1596 | 193111033, 193181596-193181597 |
| 40 | CFH | 1 | 0.97321428571429 | 99 | 3696 | 196643090, 196658663-196658664, 196658717-196658744, 196659299, 196706728-196706732, 196706736, 196706740-196706743, 196712583-196712589, 196715005-196715011, 196716353-196716395 |
| 41 | CFHR1 | 1 | 0.98992950654582 | 10 | 993 | 196797200-196797207, 196797238, 196797244 |
| 42 | CFHR5 | 1 | 0.9953216374269 | 8 | 1710 | 196953112, 196953210, 196967407-196967412 |
| 43 | ASPM | 1 | 0.99798734905118 | 21 | 10434 | 197113136, 197113145-197113150, 197113156-197113157, 197113213, 197113216-197113226 |
| 44 | USH2A | 1 | 0.9994234095714 | 9 | 15609 | 215916524-215916527, 215916557-215916560, 216251505 |
| 45 | LBR | 1 | 0.99945887445887 | 1 | 1848 | 225592159 |
| 46 | GJC2 | 1 | 0.95909090909091 | 54 | 1320 | 228345576, 228345617-228345619, 228345790, 228345913-228345915, 228346048-228346052, 228346059-228346063, 228346076-228346078, 228346346-228346351, 228346395-228346413, 228346441, 228346445-228346446, 228346471-228346472, 228346484-228346485, 228346579 |
| 47 | LYST | 1 | 0.99894792214624 | 12 | 11406 | 235875468, 235875494, 235875497, 235897874, 235897878-235897880, 235907456-235907457, 235944237, 235944318, 235956868 |
| 48 | MTR | 1 | 0.99894681411269 | 4 | 3798 | 237038026-237038029 |
| 49 | RYR2 | 1 | 0.99966451959206 | 5 | 14904 | 237821244-237821246, 237821264, 237824135 |
| 50 | FH | 1 | 0.9928245270711 | 11 | 1533 | 241661132-241661142 |
| 51 | OPTN | 10 | 0.99077277970012 | 16 | 1734 | 13151201-13151216 |
| 52 | CUBN | 10 | 0.99981604120677 | 2 | 10872 | 16979604, 17085946 |
| 53 | PTF1A | 10 | 0.99797365754813 | 2 | 987 | 23481765-23481766 |
| 54 | MYO3A | 10 | 0.99958771387343 | 2 | 4851 | 26377261, 26377273 |
| 55 | PDSS1 | 10 | 0.99439102564103 | 7 | 1248 | 26994228-26994234 |
| 56 | RET | 10 | 0.98146487294469 | 62 | 3345 | 43572707-43572768 |
| 57 | ERCC6 | 10 | 0.99977688531905 | 1 | 4482 | 50740781 |
| 58 | CHAT | 10 | 0.93724966622163 | 141 | 2247 | 50822275-50822415 |
| 59 | PCDH15 | 10 | 0.98964170487349 | 61 | 5889 | 55582650-55582669, 55587194-55587218, 56128951, 56138655-56138663, 56138676-56138677, 56138699-56138702 |
| 60 | CDH23 | 10 | 0.9989061256961 | 11 | 10056 | 73206075-73206084, 73567280 |
| 61 | BMPR1A | 10 | 0.9906191369606 | 15 | 1599 | 88649918-88649931, 88683146 |
| 62 | GLUD1 | 10 | 0.99582587954681 | 7 | 1677 | 88836362-88836368 |
| 63 | LIPA | 10 | 0.99333333333333 | 8 | 1200 | 90974616-90974623 |
| 64 | PAX2 | 10 | 0.99923017705928 | 1 | 1299 | 102566309 |
| 65 | HPS6 | 10 | 0.99484536082474 | 12 | 2328 | 103827019-103827020, 103827376-103827385 |
| 66 | HTRA1 | 10 | 0.96119196119196 | 56 | 1443 | 124221169-124221171, 124221181-124221195, 124221198, 124221203-124221215, 124221233-124221234, 124221238-124221259 |
| 67 | SLC25A22 | 11 | 0.99588477366255 | 4 | 972 | 792632, 792637, 792647, 792651 |
| 68 | TNNT3 | 11 | 0.996138996139 | 3 | 777 | 1959707-1959709 |
| 69 | H19 | 11 | 0.99346405228758 | 7 | 1071 | 2017917-2017923 |
| 70 | CDKN1C | 11 | 0.84963196635121 | 143 | 951 | 2905928-2905974, 2906067, 2906085-2906110, 2906115-2906123, 2906144, 2906149-2906162, 2906165-2906173, 2906196-2906202, 2906206-2906214, 2906229, 2906235-2906242, 2906253-2906255, 2906328, 2906331, 2906411, 2906437, 2906441-2906442, 2906450, 2906454 |
| 71 | SMPD1 | 11 | 0.99208860759494 | 15 | 1896 | 6411931-6411942, 6412777, 6412783, 6412786 |
| 72 | SBF2 | 11 | 0.99297297297297 | 39 | 5550 | 10014024-10014047, 10014069-10014083 |
| 73 | USH1C | 11 | 0.99962962962963 | 1 | 2700 | 17531145 |
| 74 | ANO5 | 11 | 0.97738876732312 | 62 | 2742 | 22249052-22249060, 22276998-22277044, 22277053, 22277064-22277068 |
| 75 | WT1 | 11 | 0.9993564993565 | 1 | 1554 | 32449554 |
| 76 | MADD | 11 | 0.99919093851133 | 4 | 4944 | 47331115-47331118 |
| 77 | SERPING1 | 11 | 0.99800399201597 | 3 | 1503 | 57365770-57365772 |
| 78 | ROM1 | 11 | 0.99337121212121 | 7 | 1056 | 62381337-62381343 |
| 79 | AIP | 11 | 0.99899295065458 | 1 | 993 | 67257562 |
| 80 | NDUFS8 | 11 | 0.99368088467615 | 4 | 633 | 67803929-67803932 |
| 81 | LRP5 | 11 | 0.99566831683168 | 21 | 4848 | 68080183-68080193, 68080204, 68080215-68080223 |
| 82 | MYO7A | 11 | 0.9998495788207 | 1 | 6648 | 76922295 |
| 83 | ALG8 | 11 | 0.99936748893106 | 1 | 1581 | 77815042 |
| 84 | FZD4 | 11 | 0.99938042131351 | 1 | 1614 | 86666080 |
| 85 | DYNC2H1 | 11 | 0.96925453843183 | 398 | 12945 | 102984266-102984267, 102984274, 102984286-102984287, 102984296-102984310, 102984328-102984363, 102984403-102984417, 102984423-102984436, 102988494-102988514, 102991443, 102991663-102991664, 103006623-103006632, 103029416-103029422, 103029433-103029470, 103031686-103031692, 103031698, 103031729-103031734, 103031747-103031749, 103036719, 103043811-103043844, 103043880-103043881, 103043885-103043887, 103043979, 103049836-103049852, 103052524, 103057192-103057202, 103059230, 103059256-103059303, 103062341, 103062344, 103082525-103082545, 103082587, 103082590, 103082593-103082595, 103082598, 103082619-103082624, 103090717-103090730, 103106417, 103106428-103106430, 103130617-103130624, 103130628-103130633, 103130664-103130693, 103194674 |
| 86 | ATM | 11 | 0.9924762839385 | 69 | 9171 | 108098577, 108098580, 108114680, 108126952-108126956, 108126963-108126964, 108126967-108126984, 108127007-108127010, 108127012-108127019, 108127023-108127026, 108127041-108127046, 108127048-108127053, 108127057-108127067, 108164059, 108196130 |
| 87 | DLAT | 11 | 0.98971193415638 | 20 | 1944 | 111909968-111909984, 111909988, 111909997, 111910002 |
| 88 | ROBO3 | 11 | 0.99975967315549 | 1 | 4161 | 124742407 |
| 89 | CACNA1C | 12 | 0.99893308946807 | 7 | 6561 | 2794934-2794940 |
| 90 | VWF | 12 | 0.97168917318171 | 239 | 8442 | 6120875-6120881, 6122647-6122650, 6122709, 6127532-6127538, 6127637-6127661, 6127868, 6127891, 6127919, 6127943, 6128064-6128079, 6128228-6128263, 6128339-6128376, 6128451, 6128476-6128508, 6131925-6131932, 6131955-6131982, 6132003-6132033 |
| 91 | ATN1 | 12 | 0.98292751189477 | 61 | 3573 | 7045600, 7045603-7045604, 7045607-7045608, 7045888-7045942, 7050618 |
| 92 | GYS2 | 12 | 0.99763257575758 | 5 | 2112 | 21712030-21712033, 21712050 |
| 93 | ABCC9 | 12 | 0.99806451612903 | 9 | 4650 | 21962882-21962889, 22063814 |
| 94 | KRAS | 12 | 0.99824561403509 | 1 | 570 | 25380227 |
| 95 | LRRK2 | 12 | 0.99103375527426 | 68 | 7584 | 40645175, 40651163-40651166, 40688684-40688700, 40761446-40761465, 40761485-40761495, 40761503-40761504, 40761506, 40761513-40761523, 40761530 |
| 96 | IRAK4 | 12 | 0.99204627621114 | 11 | 1383 | 44166737-44166739, 44180247-44180254 |
| 97 | COL2A1 | 12 | 0.99686379928315 | 14 | 4464 | 48372458-48372471 |
| 98 | MLL2 | 12 | 0.99458288190683 | 90 | 16614 | 49426583-49426593, 49426596, 49426599, 49426726-49426774, 49426785-49426791, 49426906-49426908, 49426915-49426921, 49427226-49427232, 49431320-49431323 |
| 99 | TUBA1A | 12 | 0.87719298245614 | 56 | 456 | 49522195-49522241, 49522308-49522314, 49522578, 49522605 |
| 100 | KRT81 | 12 | 0.99538866930171 | 7 | 1518 | 52682999-52683005 |
| 101 | KRT86 | 12 | 0.99041752224504 | 14 | 1461 | 52695851-52695857, 52697949-52697955 |
| 102 | KRT6B | 12 | 0.94395280235988 | 95 | 1695 | 52843632-52843637, 52844380-52844403, 52845365-52845371, 52845397-52845438, 52845571-52845578, 52845797-52845804 |
| 103 | KRT6C | 12 | 0.95162241887906 | 82 | 1695 | 52864945-52864973, 52865295-52865300, 52867024-52867030, 52867091-52867108, 52867230-52867236, 52867372-52867378, 52867456-52867463 |
| 104 | KRT6A | 12 | 0.97758112094395 | 38 | 1695 | 52882264-52882270, 52884672-52884678, 52884735, 52886490, 52886553-52886559, 52886681-52886687, 52886907-52886914 |
| 105 | KRT1 | 12 | 0.97777777777778 | 43 | 1935 | 53069223-53069243, 53072484-53072488, 53072493-53072495, 53072498, 53072504-53072513, 53072517-53072518, 53073947 |
| 106 | LEMD3 | 12 | 0.98355263157895 | 45 | 2736 | 65612355-65612399 |
| 107 | CEP290 | 12 | 0.97110215053763 | 215 | 7440 | 88443134-88443137, 88443144-88443147, 88454665, 88462299-88462311, 88462324-88462359, 88465558-88465560, 88471108-88471121, 88472882-88472885, 88478594-88478601, 88490704, 88490739-88490740, 88490764, 88505475-88505485, 88505564, 88505593-88505622, 88513952-88513955, 88513985, 88514004, 88519023-88519024, 88519043-88519050, 88519065-88519069, 88519080-88519081, 88519090, 88519128-88519135, 88519138-88519139, 88519142-88519144, 88522723, 88522736, 88522771-88522795, 88522809, 88532938-88532940, 88532955, 88532960-88532965, 88533302-88533305, 88534759, 88534767-88534768 |
| 108 | HAL | 12 | 0.99594731509625 | 8 | 1974 | 96387756, 96387759-96387765 |
| 109 | ATXN2 | 12 | 0.98198883815322 | 71 | 3942 | 112036600, 112036616, 112036744-112036770, 112036775-112036783, 112036793-112036798, 112036808-112036809, 112036820-112036821, 112036959-112036968, 112036973, 112037013-112037017, 112037031, 112037200-112037201, 112037207-112037209, 112037219 |
| 110 | PUS1 | 12 | 0.99922118380062 | 1 | 1284 | 132426010 |
| 111 | SACS | 13 | 0.99876273653566 | 17 | 13740 | 23908619-23908635 |
| 112 | B3GALTL | 13 | 0.99933199732799 | 1 | 1497 | 31891784 |
| 113 | BRCA2 | 13 | 0.99727015696597 | 28 | 10257 | 32900251-32900258, 32903625-32903626, 32920965-32920971, 32920983-32920993 |
| 114 | RB1 | 13 | 0.97667743092931 | 65 | 2787 | 48941660-48941669, 48947541-48947547, 48947555-48947599, 49051522-49051524 |
| 115 | SLITRK1 | 13 | 0.99952175992348 | 1 | 2091 | 84453774 |
| 116 | GPC6 | 13 | 0.99220623501199 | 13 | 1668 | 94680040-94680052 |
| 117 | ZIC2 | 13 | 0.95434646654159 | 73 | 1599 | 100637716-100637719, 100637723, 100637814-100637825, 100637828-100637873, 100637894, 100637916, 100637925-100637932 |
| 118 | ERCC5 | 13 | 0.99811276244397 | 8 | 4239 | 103520475-103520482 |
| 119 | TEP1 | 14 | 0.99987316083206 | 1 | 7884 | 20846270 |
| 120 | PABPN1 | 14 | 0.83930510314875 | 148 | 921 | 23790730-23790733, 23790849-23790965, 23790990-23791016 |
| 121 | FOXG1 | 14 | 0.7734693877551 | 333 | 1470 | 29236512-29236523, 29236544, 29236555, 29236561, 29236588-29236591, 29236620-29236650, 29236665-29236947 |
| 122 | NKX2-1 | 14 | 0.9983416252073 | 2 | 1206 | 36986844, 36988362 |
| 123 | FANCM | 14 | 0.98519603058402 | 91 | 6147 | 45623913-45623920, 45623930-45624012 |
| 124 | SYNE2 | 14 | 0.99961397413627 | 8 | 20724 | 64522796-64522798, 64545199-64545202, 64556312 |
| 125 | EIF2B2 | 14 | 0.99242424242424 | 8 | 1056 | 75471565-75471572 |
| 126 | ESRRB | 14 | 0.99869024230517 | 2 | 1527 | 76964700, 76964703 |
| 127 | SPATA7 | 14 | 0.98277777777778 | 31 | 1800 | 88857774, 88859746, 88859759, 88859818-88859832, 88893996-88894004, 88894010-88894013 |
| 128 | TTC8 | 14 | 0.98837209302326 | 18 | 1548 | 89305808-89305825 |
| 129 | ATXN3 | 14 | 0.94383057090239 | 61 | 1086 | 92537354, 92537373-92537376, 92537387-92537393, 92559596, 92559607-92559654 |
| 130 | VRK1 | 14 | 0.96389588581024 | 43 | 1191 | 97304099-97304117, 97304127, 97304146-97304154, 97326940, 97327053-97327065 |
| 131 | INF2 | 14 | 0.9304 | 261 | 3750 | 105173777, 105173907-105174124, 105174133-105174162, 105174174-105174185 |
| 132 | NIPA1 | 15 | 0.82020202020202 | 178 | 990 | 23086234-23086411 |
| 133 | UBE3A | 15 | 0.99200913242009 | 21 | 2628 | 25616251-25616257, 25616566-25616572, 25616620-25616626 |
| 134 | SLC12A6 | 15 | 0.99768317405155 | 8 | 3453 | 34549946-34549953 |
| 135 | SPRED1 | 15 | 0.99925093632959 | 1 | 1335 | 38614463 |
| 136 | CHST14 | 15 | 0.9867374005305 | 15 | 1131 | 40763502-40763516 |
| 137 | CDAN1 | 15 | 0.99972855591748 | 1 | 3684 | 43017765 |
| 138 | TTBK2 | 15 | 0.99973226238286 | 1 | 3735 | 43103898 |
| 139 | STRC | 15 | 0.97541291291291 | 131 | 5328 | 43906394-43906427, 43910180-43910226, 43910436-43910444, 43910863-43910903 |
| 140 | STRC | 15 | 0.97589743589744 | 47 | 1950 | 44009642-44009688 |
| 141 | DUOX2 | 15 | 0.9991392296105 | 4 | 4647 | 45398352-45398355 |
| 142 | SLC12A1 | 15 | 0.99727272727273 | 9 | 3300 | 48577377, 48577381-48577388 |
| 143 | CEP152 | 15 | 0.99979859013092 | 1 | 4965 | 49036539 |
| 144 | MAP2K1 | 15 | 0.98307952622673 | 20 | 1182 | 66727446-66727465 |
| 145 | HCN4 | 15 | 0.99612403100775 | 14 | 3612 | 73616158, 73660171-73660183 |
| 146 | RPS17 | 15 | 0.9828431372549 | 7 | 408 | 82823387-82823393 |
| 147 | RPS17 | 15 | 0.9828431372549 | 7 | 408 | 83207730-83207736 |
| 148 | POLG | 15 | 0.9991935483871 | 3 | 3720 | 89876828-89876830 |
| 149 | MESP2 | 15 | 0.97822445561139 | 26 | 1194 | 90320121-90320146 |
| 150 | BLM | 15 | 0.99647390691114 | 15 | 4254 | 91337398-91337400, 91337413, 91337416, 91337434, 91337440, 91337443, 91337475, 91337558-91337560, 91337572-91337573, 91337576 |
| 151 | HBZ | 16 | 0.96969696969697 | 13 | 429 | 203999-204010, 204325 |
| 152 | HBM | 16 | 0.99765258215962 | 1 | 426 | 216329 |
| 153 | GFER | 16 | 0.99029126213592 | 6 | 618 | 2034327-2034331, 2034345 |
| 154 | PKD1 | 16 | 0.92921313506815 | 914 | 12912 | 2139729-2139747, 2141004-2141007, 2141017, 2141056-2141059, 2141084, 2149873-2149879, 2149962-2149968, 2150019-2150025, 2150056-2150072, 2150168-2150174, 2150497-2150503, 2152126-2152143, 2152249-2152257, 2152423-2152429, 2153299-2153326, 2153441-2153483, 2153499-2153505, 2153551-2153557, 2153711-2153741, 2153764-2153782, 2153848-2153874, 2154570-2154576, 2154622, 2155875-2155895, 2155981-2156024, 2156136-2156142, 2156399-2156404, 2156427-2156462, 2156520-2156526, 2156600, 2156847-2156870, 2156900-2156941, 2157926-2157968, 2158598, 2158709-2158715, 2159045, 2159311-2159344, 2159403-2159409, 2159453-2159459, 2159577-2159584, 2159837-2159843, 2160578, 2160718-2160737, 2160769-2160775, 2161153, 2162839, 2162958, 2164172-2164178, 2164241-2164247, 2164314-2164357, 2164588-2164594, 2164808, 2164885-2164917, 2165604-2165610, 2166976-2167001, 2167632-2167656, 2167829-2167856, 2167871-2167877, 2167985-2167995, 2168056-2168075, 2168264-2168294, 2168315-2168322, 2185553-2185555, 2185661-2185690 |
| 155 | CREBBP | 16 | 0.99890844589985 | 8 | 7329 | 3790416-3790417, 3828704, 3831223-3831227 |
| 156 | ALG1 | 16 | 0.94551971326165 | 76 | 1395 | 5130968-5130999, 5131016-5131052, 5134815-5134821 |
| 157 | ABCC6 | 16 | 0.99179964539007 | 37 | 4512 | 16313509-16313515, 16315581, 16315597-16315598, 16315657-16315683 |
| 158 | OTOA | 16 | 0.9859649122807 | 48 | 3420 | 21742176-21742191, 21747659-21747665, 21756251-21756257, 21756295-21756301, 21756347-21756357 |
| 159 | OTOA | 16 | 0.96787148594378 | 32 | 996 | 22563828-22563834, 22572374-22572380, 22572418-22572424, 22572470-22572480 |
| 160 | PALB2 | 16 | 0.99915754001685 | 3 | 3561 | 23647589-23647591 |
| 161 | CLN3 | 16 | 0.99544419134396 | 6 | 1317 | 28497687-28497692 |
| 162 | TUFM | 16 | 0.99634502923977 | 5 | 1368 | 28857408, 28857412-28857414, 28857427 |
| 163 | PHKG2 | 16 | 0.93529893529894 | 79 | 1221 | 30760148-30760224, 30760235-30760236 |
| 164 | CYLD | 16 | 0.99965059399022 | 1 | 2862 | 50826594 |
| 165 | SALL1 | 16 | 0.99647798742138 | 14 | 3975 | 51175651, 51175656-51175668 |
| 166 | RPGRIP1L | 16 | 0.99645390070922 | 14 | 3948 | 53691532-53691544, 53730064 |
| 167 | HSD11B2 | 16 | 0.98029556650246 | 24 | 1218 | 67465191-67465194, 67465202-67465205, 67465246, 67465275, 67465280-67465282, 67465306, 67469992-67470001 |
| 168 | LCAT | 16 | 0.99697656840514 | 4 | 1323 | 67973978-67973981 |
| 169 | HP | 16 | 0.996723996724 | 4 | 1221 | 72091295, 72091307-72091308, 72091311 |
| 170 | GCSH | 16 | 0.98659003831418 | 7 | 522 | 81116501-81116507 |
| 171 | MLYCD | 16 | 0.99325236167341 | 10 | 1482 | 83932835, 83932986-83932992, 83932996-83932997 |
| 172 | FOXF1 | 16 | 0.99912280701754 | 1 | 1140 | 86544213 |
| 173 | SPG7 | 16 | 0.99664991624791 | 8 | 2388 | 89576898, 89579413-89579416, 89579419-89579420, 89579423 |
| 174 | FANCA | 16 | 0.99862637362637 | 6 | 4368 | 89805931-89805934, 89805941-89805942 |
| 175 | TUBB3 | 16 | 0.99630450849963 | 5 | 1353 | 90001801-90001802, 90001805-90001807 |
| 176 | GP1BA | 17 | 0.99947916666667 | 1 | 1920 | 4837170 |
| 177 | AIPL1 | 17 | 0.9991341991342 | 1 | 1155 | 6329048 |
| 178 | HES7 | 17 | 0.99705014749263 | 2 | 678 | 8025672-8025673 |
| 179 | MYH2 | 17 | 0.99794026776519 | 12 | 5826 | 10442550-10442561 |
| 180 | SCO1 | 17 | 0.99889624724062 | 1 | 906 | 10595189 |
| 181 | COX10 | 17 | 0.99474474474474 | 7 | 1332 | 14095345-14095351 |
| 182 | RAI1 | 17 | 0.99877643768572 | 7 | 5721 | 17697097-17697102, 17700890 |
| 183 | MYO15A | 17 | 0.99622392145757 | 40 | 10593 | 18024010-18024045, 18049332-18049334, 18057136 |
| 184 | UNC119 | 17 | 0.95850622406639 | 30 | 723 | 26879400-26879417, 26879426, 26879436-26879444, 26879508-26879509 |
| 185 | NF1 | 17 | 0.98967136150235 | 88 | 8520 | 29422328-29422339, 29422362, 29422374, 29422378-29422387, 29541600-29541603, 29556221-29556250, 29588748-29588768, 29664844-29664851, 29665808 |
| 186 | PEX12 | 17 | 0.99722222222222 | 3 | 1080 | 33904918-33904920 |
| 187 | KRT10 | 17 | 0.98860398860399 | 20 | 1755 | 38975287, 38975293-38975294, 38975303-38975305, 38975308-38975309, 38975312-38975321, 38975328, 38975370 |
| 188 | KRT9 | 17 | 0.99465811965812 | 10 | 1872 | 39723882-39723891 |
| 189 | KRT14 | 17 | 0.97674418604651 | 33 | 1419 | 39741304-39741309, 39742846-39742872 |
| 190 | KRT16 | 17 | 0.9592123769339 | 58 | 1422 | 39766265-39766281, 39768412-39768418, 39768490-39768496, 39768658-39768664, 39768740-39768759 |
| 191 | KRT17 | 17 | 0.94611239414935 | 70 | 1299 | 39780508-39780540, 39780555-39780571, 39780662-39780681 |
| 192 | STAT5B | 17 | 0.99450084602369 | 13 | 2364 | 40371359-40371371 |
| 193 | WNK4 | 17 | 0.9981243301179 | 7 | 3732 | 40947095-40947097, 40947167-40947170 |
| 194 | GRN | 17 | 0.98316498316498 | 30 | 1782 | 42429104-42429114, 42429119-42429137 |
| 195 | PLEKHM1 | 17 | 0.99558498896247 | 14 | 3171 | 43531076-43531082, 43552871-43552877 |
| 196 | MAPT | 17 | 0.997854997855 | 5 | 2331 | 44073816, 44073827-44073830 |
| 197 | WNT3 | 17 | 0.99719101123596 | 3 | 1068 | 44851138-44851139, 44851189 |
| 198 | NOG | 17 | 0.99856938483548 | 1 | 699 | 54671866 |
| 199 | TRIM37 | 17 | 0.9972366148532 | 8 | 2895 | 57125044-57125045, 57158524-57158529 |
| 200 | TBX4 | 17 | 0.9981684981685 | 3 | 1638 | 59534016-59534018 |
| 201 | BRIP1 | 17 | 0.99653333333333 | 13 | 3750 | 59793371, 59926512-59926523 |
| 202 | ACE | 17 | 0.99132874266769 | 34 | 3921 | 61554466, 61554485, 61554510-61554541 |
| 203 | SCN4A | 17 | 0.99909272364362 | 5 | 5511 | 62029234-62029238 |
| 204 | PRKAR1A | 17 | 0.99825479930192 | 2 | 1146 | 66521895-66521896 |
| 205 | SEPT9 | 17 | 0.92277115275412 | 136 | 1761 | 75494605-75494740 |
| 206 | TGIF1 | 18 | 0.99917081260365 | 1 | 1206 | 3457886 |
| 207 | AFG3L2 | 18 | 0.99958228905597 | 1 | 2394 | 12377047 |
| 208 | NPC1 | 18 | 0.99921813917123 | 3 | 3837 | 21115540-21115542 |
| 209 | LAMA3 | 18 | 0.99910017996401 | 9 | 10002 | 21269695-21269700, 21483934-21483936 |
| 210 | DSC3 | 18 | 0.99739873652917 | 7 | 2691 | 28581595, 28581599, 28581702-28581705, 28586897 |
| 211 | DSC2 | 18 | 0.99852180339985 | 4 | 2706 | 28659850, 28659853, 28673605-28673606 |
| 212 | LOXHD1 | 18 | 0.99125979505726 | 58 | 6636 | 44126858-44126915 |
| 213 | MYO5B | 18 | 0.99332972778078 | 37 | 5547 | 47352944-47352980 |
| 214 | SMAD4 | 18 | 0.98613622664256 | 23 | 1659 | 48593503-48593520, 48593554-48593557, 48603146 |
| 215 | LMAN1 | 18 | 0.99608610567515 | 6 | 1533 | 57016441-57016446 |
| 216 | CCBE1 | 18 | 0.99344799344799 | 8 | 1221 | 57134017-57134024 |
| 217 | TNFRSF11A | 18 | 0.98001080497029 | 37 | 1851 | 59992586-59992622 |
| 218 | CTDP1 | 18 | 0.9989604989605 | 3 | 2886 | 77440030-77440032 |
| 219 | ELANE | 19 | 0.89800995024876 | 82 | 804 | 852904, 852907-852908, 853262-853267, 853271-853339, 853355-853358 |
| 220 | KISS1R | 19 | 0.99331662489557 | 8 | 1197 | 920335-920337, 920348-920352 |
| 221 | MAP2K2 | 19 | 0.92352452202826 | 92 | 1203 | 4123781-4123872 |
| 222 | CACNA1A | 19 | 0.98949607764925 | 79 | 7521 | 13318660-13318697, 13318705-13318716, 13318781-13318784, 13318794-13318797, 13318811-13318819, 13318859-13318867, 13319692-13319694 |
| 223 | NOTCH3 | 19 | 0.99382716049383 | 43 | 6966 | 15281323-15281324, 15281351-15281357, 15281360, 15311634-15311635, 15311651-15311660, 15311666, 15311682-15311684, 15311695-15311703, 15311709-15311716 |
| 224 | JAK3 | 19 | 0.99851851851852 | 5 | 3375 | 17940990-17940993, 17949193 |
| 225 | CEBPA | 19 | 0.9619312906221 | 41 | 1077 | 33792730-33792734, 33792747-33792755, 33792982, 33792986-33792987, 33793008-33793010, 33793022-33793024, 33793032, 33793172-33793177, 33793182, 33793187-33793191, 33793206-33793208, 33793214-33793215 |
| 226 | SCN1B | 19 | 0.95043370508055 | 40 | 807 | 35521725-35521764 |
| 227 | RYR1 | 19 | 0.99616325990607 | 58 | 15117 | 39055759-39055773, 39055780-39055784, 39055813, 39055822-39055824, 39055828, 39055838-39055844, 39055868-39055873, 39055877, 39055881-39055895, 39055901-39055903, 39055912 |
| 228 | ACTN4 | 19 | 0.99963450292398 | 1 | 2736 | 39215155 |
| 229 | PRX | 19 | 0.99088007295942 | 40 | 4386 | 40901320-40901328, 40909687, 40909697-40909716, 40909720-40909726, 40909756, 40909761, 40909768 |
| 230 | ATP1A3 | 19 | 0.99755301794454 | 9 | 3678 | 42471002, 42471350-42471357 |
| 231 | BCAM | 19 | 0.98993110757817 | 19 | 1887 | 45312386-45312388, 45312401, 45312413-45312417, 45312428-45312432, 45321863, 45324075-45324078 |
| 232 | DMPK | 19 | 0.9994708994709 | 1 | 1890 | 46285492 |
| 233 | FKRP | 19 | 0.99932795698925 | 1 | 1488 | 47259668 |
| 234 | DBP | 19 | 0.9959100204499 | 4 | 978 | 49138840-49138842, 49138848 |
| 235 | KCNC3 | 19 | 0.8570800351803 | 325 | 2274 | 50823503-50823594, 50826438-50826439, 50831522-50831527, 50831549-50831550, 50831714-50831715, 50831720-50831726, 50831737-50831742, 50831941-50831979, 50832033, 50832039, 50832147, 50832152, 50832175-50832339 |
| 236 | NLRP12 | 19 | 0.9946641556811 | 17 | 3186 | 54313614-54313629, 54313884 |
| 237 | PRKCG | 19 | 0.99904489016237 | 2 | 2094 | 54393209, 54393221 |
| 238 | MYCN | 2 | 0.99856630824373 | 2 | 1395 | 16082567, 16082579 |
| 239 | OTOF | 2 | 0.97831164497831 | 130 | 5994 | 26697412, 26699759-26699862, 26699875-26699876, 26699884-26699904, 26699910, 26712607 |
| 240 | ALK | 2 | 0.99979436561793 | 1 | 4863 | 29451783 |
| 241 | SPAST | 2 | 0.93192868719611 | 126 | 1851 | 32289025-32289040, 32289115-32289132, 32289142-32289149, 32289153, 32289158-32289193, 32289198-32289222, 32289229, 32289232-32289236, 32289239-32289243, 32340774, 32340779-32340782, 32341192-32341193, 32341216, 32341221-32341223 |
| 242 | SOS1 | 2 | 0.99750124937531 | 10 | 4002 | 39224449-39224456, 39224561, 39294814 |
| 243 | LHCGR | 2 | 0.98238095238095 | 37 | 2100 | 48982755-48982791 |
| 244 | PEX13 | 2 | 0.99917491749175 | 1 | 1212 | 61258872 |
| 245 | SPR | 2 | 0.99872773536896 | 1 | 786 | 73114837 |
| 246 | ALMS1 | 2 | 0.99784069097889 | 27 | 12504 | 73613008-73613011, 73613021-73613025, 73613034-73613047, 73679410, 73679413-73679414, 73828342 |
| 247 | SLC4A5 | 2 | 0.99619214997071 | 13 | 3414 | 74454992-74455004 |
| 248 | DCTN1 | 2 | 0.99843627834246 | 6 | 3837 | 74590458-74590461, 74598106-74598107 |
| 249 | REEP1 | 2 | 0.98514851485149 | 9 | 606 | 86564625-86564633 |
| 250 | EIF2AK3 | 2 | 0.99940316323486 | 2 | 3351 | 88887502, 88887513 |
| 251 | RANBP2 | 2 | 0.90832041343669 | 887 | 9675 | 109345588-109345589, 109347317-109347341, 109347865-109347894, 109352037-109352055, 109352099-109352105, 109352564-109352567, 109357050-109357056, 109357110-109357126, 109363172-109363217, 109365544-109365573, 109367751-109367775, 109367825-109367874, 109368046-109368080, 109368104-109368110, 109368334-109368342, 109369882-109369914, 109370306-109370312, 109370395-109370401, 109371388, 109371399, 109371468-109371512, 109371632-109371633, 109371656-109371688, 109374869-109374872, 109374949-109374977, 109378625, 109378648-109378651, 109382635-109382641, 109382700-109382706, 109382787-109382794, 109382840-109382846, 109382937-109382946, 109382986-109383003, 109383032-109383058, 109383084-109383113, 109383142-109383148, 109383262-109383274, 109383295-109383321, 109383354-109383362, 109383538-109383544, 109383601-109383641, 109383676-109383712, 109383761-109383798, 109383822-109383828, 109383885-109383891, 109383980-109384010, 109384164-109384205, 109384561-109384567, 109384597-109384615, 109397773 |
| 252 | MERTK | 2 | 0.99966666666667 | 1 | 3000 | 112656317 |
| 253 | GLI2 | 2 | 0.99201848351187 | 38 | 4761 | 121728146-121728148, 121729606-121729622, 121746226-121746230, 121746235-121746236, 121746239, 121746246, 121746254-121746262 |
| 254 | PROC | 2 | 0.9992784992785 | 1 | 1386 | 128180712 |
| 255 | CFC1 | 2 | 0.98363095238095 | 11 | 672 | 131280809-131280819 |
| 256 | LCT | 2 | 0.99723374827109 | 16 | 5784 | 136564739-136564754 |
| 257 | ZEB2 | 2 | 0.9997256515775 | 1 | 3645 | 145161517 |
| 258 | NEB | 2 | 0.99454290577751 | 109 | 19974 | 152432717-152432824, 152482070 |
| 259 | ACVR1 | 2 | 0.99934640522876 | 1 | 1530 | 158622682 |
| 260 | SCN2A | 2 | 0.99534729145896 | 28 | 6018 | 166201094-166201096, 166211147-166211148, 166221736-166221750, 166237624-166237625, 166237629, 166237651-166237655 |
| 261 | SCN1A | 2 | 0.99933299983325 | 4 | 5997 | 166866324-166866327 |
| 262 | SCN9A | 2 | 0.99764071452646 | 14 | 5934 | 167060913, 167060939-167060943, 167060953, 167060970, 167083161-167083164, 167083174, 167083203 |
| 263 | AGPS | 2 | 0.93070308548306 | 137 | 1977 | 178333152, 178346787-178346914, 178362457, 178362469-178362472, 178362478-178362479, 178362485 |
| 264 | TTN | 2 | 0.99962094006863 | 38 | 100248 | 179514891-179514894, 179523923-179523939, 179535856-179535870, 179598578, 179650756 |
| 265 | COL3A1 | 2 | 0.98682117700523 | 58 | 4401 | 189850445, 189854122-189854128, 189856923-189856943, 189860866, 189871665-189871682, 189871693-189871698, 189871701, 189872662-189872664 |
| 266 | COL5A2 | 2 | 0.99755555555556 | 11 | 4500 | 189916913, 189916937-189916946 |
| 267 | PMS1 | 2 | 0.98428010003573 | 44 | 2799 | 190718669-190718685, 190718754-190718757, 190718781-190718783, 190718786-190718787, 190718791-190718808 |
| 268 | HSPD1 | 2 | 0.98954703832753 | 18 | 1722 | 198351826-198351843 |
| 269 | ALS2 | 2 | 0.99899477281866 | 5 | 4974 | 202622429-202622431, 202626388-202626389 |
| 270 | BMPR2 | 2 | 0.99967917869747 | 1 | 3117 | 203384922 |
| 271 | ACADL | 2 | 0.99922660479505 | 1 | 1293 | 211059982 |
| 272 | CPS1 | 2 | 0.99755718409949 | 11 | 4503 | 211507244-211507254 |
| 273 | ABCA12 | 2 | 0.99781715459682 | 17 | 7788 | 215809798, 215809816, 215809821, 215890459-215890472 |
| 274 | SMARCAL1 | 2 | 0.9979057591623 | 6 | 2865 | 217347564-217347569 |
| 275 | OBSL1 | 2 | 0.99806712352838 | 11 | 5691 | 220416293-220416294, 220435683-220435690, 220435746 |
| 276 | UGT1A1 | 2 | 0.99750312109863 | 4 | 1602 | 234668951-234668954 |
| 277 | AVP | 20 | 0.95757575757576 | 21 | 495 | 3063388, 3063638-3063648, 3063653-3063660, 3063785 |
| 278 | JAG1 | 20 | 0.99945310363686 | 2 | 3657 | 10620209-10620210 |
| 279 | C20orf7 | 20 | 0.99518304431599 | 5 | 1038 | 13782226-13782230 |
| 280 | SNTA1 | 20 | 0.99604743083004 | 6 | 1518 | 32031358, 32031389, 32031406-32031407, 32031410, 32031413 |
| 281 | CTSA | 20 | 0.99799599198397 | 3 | 1497 | 44520238-44520240 |
| 282 | COL9A3 | 20 | 0.99951338199513 | 1 | 2055 | 61456364 |
| 283 | KCNQ2 | 20 | 0.99961817487591 | 1 | 2619 | 62103706 |
| 284 | SOX18 | 20 | 0.6987012987013 | 348 | 1155 | 62680512-62680749, 62680760-62680869 |
| 285 | IFNGR2 | 21 | 0.93293885601578 | 68 | 1014 | 34775850-34775851, 34775857-34775922 |
| 286 | AIRE | 21 | 0.9969474969475 | 5 | 1638 | 45709921-45709924, 45713057 |
| 287 | ITGB2 | 21 | 0.99480519480519 | 12 | 2310 | 46308610, 46308656-46308666 |
| 288 | COL18A1 | 21 | 0.99924026590693 | 4 | 5265 | 46875494-46875497 |
| 289 | COL6A2 | 21 | 0.99967320261438 | 1 | 3060 | 47531949 |
| 290 | FTCD | 21 | 0.99938499384994 | 1 | 1626 | 47565770 |
| 291 | PCNT | 21 | 0.99840175806613 | 16 | 10011 | 47754419, 47754432, 47754439, 47754446, 47754449, 47754459, 47754463, 47832898-47832906 |
| 292 | PRODH | 22 | 0.9961175818081 | 7 | 1803 | 18905839-18905845 |
| 293 | TBX1 | 22 | 0.86491935483871 | 201 | 1488 | 19748428-19748599, 19753510-19753515, 19753941, 19754291-19754312 |
| 294 | CHEK2 | 22 | 0.92788188529245 | 127 | 1761 | 29083906-29083916, 29083946-29083965, 29085123-29085143, 29085163-29085171, 29090020-29090024, 29091139-29091160, 29091173-29091203, 29091837-29091844 |
| 295 | NF2 | 22 | 0.99944071588367 | 1 | 1788 | 30074306 |
| 296 | TRIOBP | 22 | 0.97900817131586 | 149 | 7098 | 38119801, 38119856-38119862, 38119879-38119913, 38119976-38120009, 38120041, 38120048, 38120065, 38120140-38120156, 38120173-38120199, 38120297-38120303, 38120340-38120346, 38120429, 38120437, 38120447, 38120480-38120486, 38120668 |
| 297 | TNFRSF13C | 22 | 0.97657657657658 | 13 | 555 | 42322226, 42322244, 42322259-42322264, 42322323-42322326, 42322331 |
| 298 | CYB5R3 | 22 | 0.99558498896247 | 4 | 906 | 43045318-43045321 |
| 299 | ALG12 | 22 | 0.99931833674165 | 1 | 1467 | 50304174 |
| 300 | SCO2 | 22 | 0.99750312109863 | 2 | 801 | 50962686-50962687 |
| 301 | TYMP | 22 | 0.99654934437543 | 5 | 1449 | 50964486-50964488, 50964491, 50964809 |
| 302 | ARSA | 22 | 0.999343832021 | 1 | 1524 | 51063823 |
| 303 | SHANK3 | 22 | 0.8905415713196 | 574 | 5244 | 51113070-51113132, 51135952-51136143, 51158757-51158796, 51158802-51158870, 51158879-51158886, 51158898-51158974, 51158983-51159004, 51159022-51159038, 51159104, 51159180, 51159196, 51159460, 51169436-51169442, 51169534, 51169553-51169611, 51169632-51169637, 51169706-51169708, 51169713, 51169727, 51169732-51169734, 51169738 |
| 304 | FANCD2 | 3 | 0.98324275362319 | 74 | 4416 | 10085168-10085170, 10088264-10088311, 10088340-10088346, 10107165-10107171, 10114941-10114949 |
| 305 | RAF1 | 3 | 0.99640472521828 | 7 | 1947 | 12660113-12660119 |
| 306 | CRTAP | 3 | 0.98590381426202 | 17 | 1206 | 33155852-33155868 |
| 307 | MLH1 | 3 | 0.99955966534566 | 1 | 2271 | 37045905 |
| 308 | SCN5A | 3 | 0.9988113431822 | 7 | 5889 | 38592925-38592931 |
| 309 | TMIE | 3 | 0.99363057324841 | 3 | 471 | 46751074-46751076 |
| 310 | RFT1 | 3 | 0.99261992619926 | 12 | 1626 | 53156425-53156429, 53156432-53156438 |
| 311 | HESX1 | 3 | 0.96594982078853 | 19 | 558 | 57232243-57232261 |
| 312 | ATXN7 | 3 | 0.90063424947146 | 282 | 2838 | 63898275-63898403, 63898420-63898572 |
| 313 | GBE1 | 3 | 0.95400663821716 | 97 | 2109 | 81754668-81754764 |
| 314 | PROS1 | 3 | 0.99901526341704 | 2 | 2031 | 93595973-93595974 |
| 315 | ARL13B | 3 | 0.98601398601399 | 18 | 1287 | 93761879-93761896 |
| 316 | ARL6 | 3 | 0.92513368983957 | 42 | 561 | 97486959-97486974, 97503799-97503824 |
| 317 | IQCB1 | 3 | 0.99888703394546 | 2 | 1797 | 121547758, 121547762 |
| 318 | NPHP3 | 3 | 0.96393688955672 | 144 | 3993 | 132409376-132409379, 132432003, 132438549-132438674, 132441030-132441040, 132441092, 132441170 |
| 319 | PCCB | 3 | 0.99938271604938 | 1 | 1620 | 136048801 |
| 320 | FOXL2 | 3 | 0.97524314765694 | 28 | 1131 | 138664805, 138664815, 138664836-138664844, 138664863-138664864, 138664867-138664874, 138664883-138664889 |
| 321 | PLOD2 | 3 | 0.95256916996047 | 108 | 2277 | 145794577-145794589, 145795690-145795702, 145799525-145799527, 145804617-145804695 |
| 322 | AGTR1 | 3 | 0.98796296296296 | 13 | 1080 | 148459012-148459024 |
| 323 | IFT80 | 3 | 0.99828178694158 | 4 | 2328 | 160075316, 160075326-160075327, 160075346 |
| 324 | SLC2A2 | 3 | 0.99936507936508 | 1 | 1575 | 170716886 |
| 325 | CLCN2 | 3 | 0.99962921764924 | 1 | 2697 | 184072095 |
| 326 | OPA1 | 3 | 0.98162729658793 | 56 | 3048 | 193354984-193355008, 193355026, 193355033, 193355036-193355040, 193355049, 193355062-193355069, 193363560-193363573, 193377343 |
| 327 | IDUA | 4 | 0.99490316004077 | 10 | 1962 | 980890-980899 |
| 328 | FGFR3 | 4 | 0.99876390605686 | 3 | 2427 | 1808907, 1808917-1808918 |
| 329 | HTT | 4 | 0.9923639834553 | 72 | 9429 | 3076615-3076663, 3076668, 3076672-3076675, 3076681-3076684, 3076689-3076691, 3129075-3129082, 3201581-3201583 |
| 330 | DOK7 | 4 | 0.98679867986799 | 20 | 1515 | 3465259-3465278 |
| 331 | MSX1 | 4 | 0.99561403508772 | 4 | 912 | 4864429-4864432 |
| 332 | EVC | 4 | 0.99966431688486 | 1 | 2979 | 5713229 |
| 333 | CNGA1 | 4 | 0.98552631578947 | 33 | 2280 | 47954600-47954618, 47954698, 47972947-47972948, 47972973-47972974, 47972978-47972981, 47972995, 47973005-47973008 |
| 334 | SLC4A4 | 4 | 0.99665144596651 | 11 | 3285 | 72306333-72306337, 72352665, 72352694, 72352722-72352724, 72425934 |
| 335 | ALB | 4 | 0.99890710382514 | 2 | 1830 | 74272404-74272405 |
| 336 | CDS1 | 4 | 0.9992784992785 | 1 | 1386 | 85560137 |
| 337 | PKD2 | 4 | 0.99931200550396 | 2 | 2907 | 88928940-88928941 |
| 338 | SNCA | 4 | 0.92434988179669 | 32 | 423 | 90749294-90749323, 90749330, 90749333 |
| 339 | MTTP | 4 | 0.99776536312849 | 6 | 2685 | 100521847-100521851, 100521854 |
| 340 | MANBA | 4 | 0.99924242424242 | 2 | 2640 | 103611809-103611810 |
| 341 | CISD2 | 4 | 0.97058823529412 | 12 | 408 | 103808512-103808522, 103808586 |
| 342 | ANK2 | 4 | 0.99957891190837 | 5 | 11874 | 114161646, 114161649-114161652 |
| 343 | BBS7 | 4 | 0.94320297951583 | 122 | 2148 | 122766698, 122766711-122766714, 122766733, 122775859-122775892, 122775914-122775940, 122775952-122775975, 122782735-122782763, 122782784, 122782812 |
| 344 | FGB | 4 | 0.99186991869919 | 12 | 1476 | 155484197-155484208 |
| 345 | FGA | 4 | 0.9996155324875 | 1 | 2601 | 155507590 |
| 346 | CTSO | 4 | 0.98757763975155 | 12 | 966 | 156863602-156863608, 156864400-156864404 |
| 347 | GLRB | 4 | 0.9805890227577 | 29 | 1494 | 158041712-158041714, 158041720-158041728, 158041734-158041739, 158041745-158041754, 158041764 |
| 348 | GK | 4 | 0.92719614921781 | 121 | 1662 | 166199162-166199168, 166199361, 166199389-166199390, 166199423-166199432, 166199563-166199569, 166199603-166199609, 166199723-166199764, 166200115-166200121, 166200321-166200327, 166200447-166200453, 166200507, 166200741-166200763 |
| 349 | SDHA | 5 | 0.89573934837093 | 208 | 1995 | 228319-228325, 228378-228399, 233592-233598, 236646-236681, 251108-251149, 251485-251506, 254529, 254569-254612, 256449-256475 |
| 350 | SDHA | 5 | 0.95718654434251 | 14 | 327 | 1593261-1593267, 1593383-1593389 |
| 351 | DNAH5 | 5 | 0.99769369369369 | 32 | 13875 | 13792252-13792263, 13862754, 13862757, 13862773, 13862776, 13864688-13864689, 13916476-13916483, 13916495-13916497, 13916506-13916507, 13916511 |
| 352 | NIPBL | 5 | 0.96922162804516 | 259 | 8415 | 37036481-37036589, 37046265-37046277, 37048604-37048677, 37048702, 37048704-37048705, 37048708-37048723, 37048734-37048777 |
| 353 | LIFR | 5 | 0.97237401335762 | 91 | 3294 | 38482691-38482709, 38482728-38482731, 38482738-38482739, 38482742, 38482754-38482769, 38484899, 38490329, 38490373-38490375, 38490378-38490393, 38506007-38506021, 38506047-38506050, 38506069, 38506073-38506080 |
| 354 | OXCT1 | 5 | 0.96481126039667 | 55 | 1563 | 41862754-41862776, 41862801, 41862821-41862851 |
| 355 | NDUFAF2 | 5 | 0.98823529411765 | 6 | 510 | 60394822, 60394825-60394828, 60394831 |
| 356 | SMN2 | 5 | 0.98983050847458 | 9 | 885 | 69362945-69362953 |
| 357 | SMN2 | 5 | 0.98983050847458 | 9 | 885 | 70238369-70238377 |
| 358 | AP3B1 | 5 | 0.99543378995434 | 15 | 3285 | 77311368, 77411961-77411962, 77411968, 77411977, 77411984, 77563360, 77563409-77563416 |
| 359 | RASA1 | 5 | 0.96946564885496 | 96 | 3144 | 86637107-86637112, 86637136, 86669980-86669987, 86669992, 86670039-86670043, 86670046, 86670064-86670137 |
| 360 | MEF2C | 5 | 0.95428973277075 | 65 | 1422 | 88024368-88024372, 88024383-88024400, 88024404-88024445 |
| 361 | GPR98 | 5 | 0.99476771840812 | 99 | 18921 | 89914904, 89914989, 89940566, 89941834-89941843, 89971897, 89971937, 89971942, 90007001-90007024, 90008238-90008239, 90049393-90049399, 90144532-90144574, 90144602-90144608 |
| 362 | WDR36 | 5 | 0.98214285714286 | 51 | 2856 | 110436318-110436362, 110436393, 110441762-110441763, 110441766-110441767, 110441770 |
| 363 | APC | 5 | 0.99589779653071 | 35 | 8532 | 112102101-112102107, 112102920-112102937, 112102977, 112103065, 112111337, 112128179-112128184, 112128205 |
| 364 | HSD17B4 | 5 | 0.99819086386251 | 4 | 2211 | 118835075-118835076, 118835081, 118835089 |
| 365 | FBN2 | 5 | 0.99645268337338 | 31 | 8739 | 127645692-127645693, 127645701, 127702073-127702100 |
| 366 | TGFBI | 5 | 0.9995126705653 | 1 | 2052 | 135364878 |
| 367 | MYOT | 5 | 0.95123580494322 | 73 | 1497 | 137211637, 137221816-137221844, 137221853-137221880, 137221888-137221902 |
| 368 | MATR3 | 5 | 0.99174528301887 | 21 | 2544 | 138651791, 138658506-138658518, 138658532-138658538 |
| 369 | DIAPH1 | 5 | 0.99738151348521 | 10 | 3819 | 140907263-140907264, 140909182-140909183, 140953564-140953569 |
| 370 | SPINK5 | 5 | 0.99969558599696 | 1 | 3285 | 147504375 |
| 371 | FOXC1 | 6 | 0.9849578820698 | 25 | 1662 | 1611645, 1611653, 1611686-1611691, 1611699-1611700, 1611703-1611707, 1611806-1611808, 1611811-1611814, 1612018-1612020 |
| 372 | TUBB2B | 6 | 0.98355754857997 | 22 | 1338 | 3225569-3225583, 3226028-3226034 |
| 373 | DTNBP1 | 6 | 0.99715909090909 | 3 | 1056 | 15663098-15663100 |
| 374 | ATXN1 | 6 | 0.97998366013072 | 49 | 2448 | 16327863, 16327870, 16327875-16327879, 16327888-16327894, 16327897-16327904, 16327907-16327929, 16327932, 16327935, 16327948, 16327955 |
| 375 | HLA-H | 6 | 0.944 | 42 | 750 | 29856300-29856314, 29856318, 29856330, 29856347, 29856353, 29856368, 29856372, 29856397, 29856402, 29856406, 29856424-29856427, 29856513-29856516, 29856534, 29856546, 29856550, 29856565, 29856584-29856586, 29856596, 29856611, 29856643 |
| 376 | TNXB | 6 | 0.95075168481078 | 95 | 1929 | 31976916, 31976926, 31977391, 31977525-31977555, 31977994-31978002, 31978498-31978517, 31979411-31979428, 31979476-31979482, 31979604-31979610 |
| 377 | CYP21A2 | 6 | 0.93884408602151 | 91 | 1488 | 32006211-32006234, 32006317, 32006337, 32006384-32006390, 32006886, 32007790, 32008195-32008201, 32008448-32008454, 32008866-32008907 |
| 378 | TNXB | 6 | 0.99253672715846 | 95 | 12729 | 32009648-32009664, 32010122-32010129, 32010268-32010276, 32010728-32010736, 32011235, 32011248, 32012265-32012282, 32012330-32012336, 32012458-32012464, 32021355-32021365, 32021399-32021405 |
| 379 | HLA-DQA1 | 6 | 0.93489583333333 | 50 | 768 | 32609105-32609106, 32609126-32609130, 32609134-32609136, 32609142, 32609150, 32609169, 32609181, 32609195, 32609199, 32609278-32609279, 32609286, 32609965, 32610387-32610406, 32610461, 32610478, 32610481, 32610487, 32610495-32610497, 32610534-32610535, 32610538 |
| 380 | HLA-DQB1 | 6 | 0.81424936386768 | 146 | 786 | 32629124-32629173, 32629190-32629234, 32629755, 32629764, 32629802, 32629920, 32632631, 32632687-32632696, 32632700, 32632705-32632737, 32632744-32632745 |
| 381 | COL11A2 | 6 | 0.99942429476108 | 3 | 5211 | 33140126, 33140140, 33159961 |
| 382 | SYNGAP1 | 6 | 0.9437003968254 | 227 | 4032 | 33388042-33388108, 33393595-33393604, 33393618-33393623, 33393632-33393633, 33393636, 33393657, 33393665-33393666, 33393676-33393680, 33411513-33411523, 33411528-33411590, 33411595-33411596, 33411599, 33411601-33411605, 33411610-33411615, 33411626-33411665, 33411674-33411678 |
| 383 | MOCS1 | 6 | 0.996336996337 | 7 | 1911 | 39874691-39874693, 39874704-39874707 |
| 384 | CUL7 | 6 | 0.99941141848146 | 3 | 5097 | 43005468-43005470 |
| 385 | RUNX2 | 6 | 0.98722860791826 | 20 | 1566 | 45390444-45390450, 45390457-45390469 |
| 386 | CD2AP | 6 | 0.98333333333333 | 32 | 1920 | 47471016-47471017, 47563674-47563675, 47591922-47591949 |
| 387 | MUT | 6 | 0.9751442521083 | 56 | 2253 | 49409556, 49409571, 49409589-49409614, 49409619, 49409622-49409623, 49409656-49409675, 49421298-49421301, 49423841 |
| 388 | EYS | 6 | 0.98834128245893 | 110 | 9435 | 65098658-65098661, 65098671, 65098682, 65146125, 65523276-65523332, 65523338-65523344, 65523352-65523355, 65523372, 65596600-65596625, 66005888-66005889, 66005900-66005903, 66005919, 66005949 |
| 389 | LMBRD1 | 6 | 0.99137399876771 | 14 | 1623 | 70407524, 70410729-70410732, 70410753-70410761 |
| 390 | RIMS1 | 6 | 0.99625910612325 | 19 | 5079 | 72974678-72974689, 72974703-72974704, 72974724, 73108741, 73108767, 73108771, 73108783 |
| 391 | SLC17A5 | 6 | 0.99731182795699 | 4 | 1488 | 74331616, 74331656-74331658 |
| 392 | MYO6 | 6 | 0.99663037843442 | 13 | 3858 | 76601006-76601018 |
| 393 | BCKDHB | 6 | 0.9618320610687 | 45 | 1179 | 80880999-80881042, 80881069 |
| 394 | NDUFAF4 | 6 | 0.99810606060606 | 1 | 528 | 97339155 |
| 395 | PDSS2 | 6 | 0.99916666666667 | 1 | 1200 | 107780274 |
| 396 | OSTM1 | 6 | 0.99701492537313 | 3 | 1005 | 108395703-108395705 |
| 397 | FIG4 | 6 | 0.9996328928047 | 1 | 2724 | 110081478 |
| 398 | ENPP1 | 6 | 0.97336213102952 | 74 | 2778 | 132171184-132171190, 132203485-132203513, 132203529-132203530, 132203557-132203592 |
| 399 | EYA4 | 6 | 0.98333333333333 | 32 | 1920 | 133767826, 133769257-133769262, 133769268-133769271, 133783577-133783597 |
| 400 | PEX7 | 6 | 0.95987654320988 | 39 | 972 | 137167244, 137167253-137167273, 137167279-137167284, 137167287, 137167307, 137167311-137167319 |
| 401 | PEX3 | 6 | 0.99286987522282 | 8 | 1122 | 143792138-143792139, 143792142-143792147 |
| 402 | SYNE1 | 6 | 0.99901492763507 | 26 | 26394 | 152545782-152545788, 152553306-152553317, 152599293-152599296, 152737829, 152819880, 152819883 |
| 403 | PARK2 | 6 | 0.97639484978541 | 33 | 1398 | 161969945-161969975, 162683662-162683663 |
| 404 | TBP | 6 | 0.92941176470588 | 72 | 1020 | 170871007-170871033, 170871037, 170871040-170871073, 170871076-170871079, 170871131-170871136 |
| 405 | LFNG | 7 | 0.88333333333333 | 133 | 1140 | 2559496-2559533, 2559536, 2559541-2559548, 2559582-2559613, 2559640-2559653, 2559672, 2559675-2559681, 2559685, 2559703, 2559743-2559752, 2559772-2559775, 2559831-2559833, 2559844-2559853, 2559879-2559881 |
| 406 | PMS2 | 7 | 0.98107377365778 | 49 | 2589 | 6026942, 6026959, 6043382-6043399, 6043641-6043669 |
| 407 | TWIST1 | 7 | 0.7504105090312 | 152 | 609 | 19156793-19156944 |
| 408 | DNAH11 | 7 | 0.99594753905099 | 55 | 13572 | 21628911, 21630567-21630603, 21630625-21630640, 21630927 |
| 409 | FAM126A | 7 | 0.99297573435504 | 11 | 1566 | 23017017-23017027 |
| 410 | CYCS | 7 | 0.97798742138365 | 7 | 318 | 25163382-25163388 |
| 411 | HOXA1 | 7 | 0.99702380952381 | 3 | 1008 | 27135317-27135319 |
| 412 | HOXA13 | 7 | 0.88688946015424 | 132 | 1167 | 27239304-27239310, 27239332-27239336, 27239368-27239383, 27239388-27239403, 27239407, 27239416-27239463, 27239469-27239470, 27239473-27239479, 27239505-27239527, 27239561, 27239570-27239575 |
| 413 | RP9 | 7 | 0.9984984984985 | 1 | 666 | 33148926 |
| 414 | BBS9 | 7 | 0.9984984984985 | 4 | 2664 | 33303925, 33303950, 33303955, 33303959 |
| 415 | CCM2 | 7 | 0.97752808988764 | 30 | 1335 | 45039933-45039962 |
| 416 | GRB10 | 7 | 0.99943977591036 | 1 | 1785 | 50674034 |
| 417 | KCTD7 | 7 | 0.99540229885057 | 4 | 870 | 66094165, 66094172-66094174 |
| 418 | SBDS | 7 | 0.99070385126162 | 7 | 753 | 66460332-66460338 |
| 419 | NCF1 | 7 | 0.91878787878788 | 67 | 825 | 72639957-72639999, 72640033-72640042, 72643704-72643710, 72644230-72644236 |
| 420 | ELN | 7 | 0.99862068965517 | 3 | 2175 | 73442540-73442542 |
| 421 | NCF1 | 7 | 0.97612958226769 | 28 | 1173 | 74191613-74191614, 74193664-74193672, 74193715-74193724, 74197385-74197391 |
| 422 | HSPB1 | 7 | 0.99838187702265 | 1 | 618 | 75932204 |
| 423 | CD36 | 7 | 0.97674418604651 | 33 | 1419 | 80302086-80302118 |
| 424 | AKAP9 | 7 | 0.996417604913 | 42 | 11724 | 91609607-91609611, 91609636-91609647, 91630260, 91630265-91630268, 91707174-91707184, 91714941, 91727480, 91727485, 91727504-91727507, 91727519, 91727522 |
| 425 | KRIT1 | 7 | 0.99095431931253 | 20 | 2211 | 91851216-91851227, 91867054, 91867059-91867065 |
| 426 | PEX1 | 7 | 0.99974039460021 | 1 | 3852 | 92140300 |
| 427 | COL1A2 | 7 | 0.98683247988296 | 54 | 4101 | 94027063-94027070, 94027694-94027700, 94030896-94030899, 94030914-94030918, 94034541-94034542, 94049713-94049728, 94054461-94054472 |
| 428 | SGCE | 7 | 0.99852507374631 | 2 | 1356 | 94252647-94252648 |
| 429 | TFR2 | 7 | 0.99085619285121 | 22 | 2406 | 100229456-100229477 |
| 430 | SLC26A5 | 7 | 0.99865771812081 | 3 | 2235 | 103017271-103017272, 103017278 |
| 431 | SLC26A4 | 7 | 0.9906103286385 | 22 | 2343 | 107314725-107314733, 107323648-107323654, 107323666-107323671 |
| 432 | CFTR | 7 | 0.9527346387576 | 210 | 4443 | 117144313, 117188713-117188753, 117188760-117188766, 117188846-117188877, 117234984-117235112 |
| 433 | AASS | 7 | 0.98993167925207 | 28 | 2781 | 121769497-121769523, 121769549 |
| 434 | IMPDH1 | 7 | 0.99777777777778 | 4 | 1800 | 128049839, 128049842, 128049897-128049898 |
| 435 | FLNC | 7 | 0.99523110785033 | 39 | 8178 | 128498155-128498193 |
| 436 | ATP6V0A4 | 7 | 0.99524375743163 | 12 | 2523 | 138394386-138394390, 138394397-138394401, 138394404, 138394432 |
| 437 | BRAF | 7 | 0.99478487614081 | 12 | 2301 | 140453180-140453184, 140624404-140624408, 140624411, 140624415 |
| 438 | PRSS1 | 7 | 0.89650537634409 | 77 | 744 | 142458483-142458489, 142459653-142459682, 142460335, 142460366-142460397, 142460741-142460747 |
| 439 | CNTNAP2 | 7 | 0.99824824824825 | 7 | 3996 | 145813983-145813988, 145813997 |
| 440 | KCNH2 | 7 | 0.98735632183908 | 44 | 3480 | 150644699, 150644706, 150644709, 150644735-150644741, 150644752-150644755, 150644758-150644759, 150645565-150645567, 150671861-150671863, 150671867, 150671871, 150671886-150671889, 150671913, 150671917, 150671935, 150671961, 150674969, 150674972, 150674975, 150674985-150674993 |
| 441 | PRKAG2 | 7 | 0.99941520467836 | 1 | 1710 | 151262439 |
| 442 | MNX1 | 7 | 0.87562189054726 | 150 | 1206 | 156799289, 156802649, 156802655-156802780, 156802783, 156802786-156802796, 156802891, 156802897-156802905 |
| 443 | TUSC3 | 8 | 0.97516714422159 | 26 | 1047 | 15480607-15480632 |
| 444 | ESCO2 | 8 | 0.99889258028793 | 2 | 1806 | 27660948, 27660951 |
| 445 | FGFR1 | 8 | 0.99878197320341 | 3 | 2463 | 38285914-38285916 |
| 446 | HGSNAT | 8 | 0.9937106918239 | 12 | 1908 | 43046655-43046666 |
| 447 | RP1 | 8 | 0.99644568072941 | 23 | 6471 | 55533678-55533694, 55533934-55533935, 55533940-55533941, 55541701-55541702 |
| 448 | TTPA | 8 | 0.98805256869773 | 10 | 837 | 63976837-63976846 |
| 449 | EYA1 | 8 | 0.99943788645306 | 1 | 1779 | 72246332 |
| 450 | CNGB3 | 8 | 0.99835390946502 | 4 | 2430 | 87656896-87656899 |
| 451 | TMEM67 | 8 | 0.99230254350736 | 23 | 2988 | 94768011, 94768045, 94768058-94768060, 94768067-94768075, 94777661, 94777820, 94777853, 94784858, 94811913-94811917 |
| 452 | GDF6 | 8 | 0.99926900584795 | 1 | 1368 | 97157416 |
| 453 | VPS13B | 8 | 0.99107887276972 | 107 | 11994 | 100123409-100123471, 100123484-100123490, 100146872, 100287442, 100287456-100287457, 100514000-100514006, 100514009, 100514027, 100514035-100514043, 100883853-100883867 |
| 454 | KCNQ3 | 8 | 0.99885452462772 | 3 | 2619 | 133492770, 133492778-133492779 |
| 455 | TG | 8 | 0.99963885879379 | 3 | 8307 | 134108594-134108596 |
| 456 | CYP11B1 | 8 | 0.96097883597884 | 59 | 1512 | 143958288-143958294, 143958513-143958533, 143958572-143958602 |
| 457 | CYP11B2 | 8 | 0.9510582010582 | 74 | 1512 | 143993948-143993983, 143994026-143994032, 143994069-143994075, 143994263-143994282, 143994702, 143994724, 143996539, 143996553 |
| 458 | PLEC | 8 | 0.99708288865173 | 41 | 14055 | 144996229, 144996241-144996262, 144996557, 145009081-145009097 |
| 459 | DOCK8 | 9 | 0.99809523809524 | 12 | 6300 | 377032-377043 |
| 460 | KCNV2 | 9 | 0.9981684981685 | 3 | 1638 | 2718748-2718750 |
| 461 | JAK2 | 9 | 0.96145925272139 | 131 | 3399 | 5069166-5069177, 5069189-5069208, 5069931, 5077453-5077549, 5077577 |
| 462 | NPR2 | 9 | 0.99904580152672 | 3 | 3144 | 35799638-35799640 |
| 463 | VPS13A | 9 | 0.96997375328084 | 286 | 9525 | 79814896-79814904, 79824439, 79824446, 79840855-79840856, 79843060, 79843085-79843088, 79843100-79843101, 79843104, 79843143, 79843153-79843159, 79843167, 79843170-79843180, 79862214-79862215, 79890551, 79890991, 79891012, 79891094, 79891134-79891135, 79896783-79896842, 79898369, 79908404-79908424, 79928997-79928999, 79929010-79929013, 79929024, 79929029, 79932550-79932556, 79932564-79932614, 79933261-79933262, 79946946-79946947, 79946965-79946971, 79952316, 79952327, 79955320-79955321, 79959111-79959113, 79959119-79959137, 79959144, 79974315, 79974318, 79996896-79996916, 79996931-79996937, 79996959-79996964, 79996973, 79996976-79996980, 79996983-79996989, 79997000 |
| 464 | ROR2 | 9 | 0.99223163841808 | 22 | 2832 | 94486022-94486043 |
| 465 | SPTLC1 | 9 | 0.99929676511955 | 1 | 1422 | 94874797 |
| 466 | FOXE1 | 9 | 0.96345811051693 | 41 | 1122 | 100616697-100616737 |
| 467 | TGFBR1 | 9 | 0.9702380952381 | 45 | 1512 | 101867534-101867578 |
| 468 | INVS | 9 | 0.99906191369606 | 3 | 3198 | 103015368, 103015371-103015372 |
| 469 | ABCA1 | 9 | 0.99970527556734 | 2 | 6786 | 107556790-107556791 |
| 470 | MUSK | 9 | 0.99846743295019 | 4 | 2610 | 113547929-113547932 |
| 471 | GSN | 9 | 0.99957428693061 | 1 | 2349 | 124062233 |
| 472 | TTF1 | 9 | 0.99411331861663 | 16 | 2718 | 135277198-135277213 |
| 473 | CEL | 9 | 0.90708938793483 | 211 | 2271 | 135944583-135944589, 135945994-135946018, 135946387-135946393, 135946686-135946725, 135946752-135946767, 135946785-135946867, 135946904-135946933, 135946952, 135946984, 135946987 |
| 474 | SURF1 | 9 | 0.94905869324474 | 46 | 903 | 136223284-136223329 |
| 475 | ADAMTS13 | 9 | 0.99509803921569 | 21 | 4284 | 136293786-136293788, 136293791-136293793, 136293822-136293828, 136307854-136307861 |
| 476 | COL5A1 | 9 | 0.99818742069966 | 10 | 5517 | 137534105-137534107, 137534117-137534122, 137534126 |
| 477 | LHX3 | 9 | 0.9793217535153 | 25 | 1209 | 139090848-139090871, 139094860 |
| 478 | INPP5E | 9 | 0.98759689922481 | 24 | 1935 | 139333160-139333171, 139333324-139333334, 139333505 |
| 479 | NOTCH1 | 9 | 0.99960876369327 | 3 | 7668 | 139391893, 139391907, 139440196 |
| 480 | AGPAT2 | 9 | 0.96415770609319 | 30 | 837 | 139581744-139581766, 139581784-139581790 |
| 481 | SLC34A3 | 9 | 0.99 | 18 | 1800 | 140128360-140128377 |
| 482 | STS | X | 0.99143835616438 | 15 | 1752 | 7177632-7177646 |
| 483 | KAL1 | X | 0.9995105237396 | 1 | 2043 | 8700001 |
| 484 | FANCB | X | 0.99728682170543 | 7 | 2580 | 14877318-14877319, 14877332, 14877336, 14877377, 14877408-14877409 |
| 485 | SMS | X | 0.99909173478656 | 1 | 1101 | 21958967 |
| 486 | ARX | X | 0.95085849615157 | 83 | 1689 | 25031278, 25031384-25031386, 25031649-25031689, 25031702-25031723, 25031771-25031772, 25031777-25031784, 25031792-25031797 |
| 487 | GK | X | 0.99458483754513 | 9 | 1662 | 30725703-30725711 |
| 488 | DMD | X | 0.99918610960391 | 9 | 11058 | 32398794-32398797, 32404442, 32472813, 32490299, 32613985-32613986 |
| 489 | RPGR | X | 0.91355883203238 | 299 | 3459 | 38145324-38145602, 38145627-38145646 |
| 490 | NYX | X | 0.99930843706777 | 1 | 1446 | 41333925 |
| 491 | ZNF674 | X | 0.99942726231386 | 1 | 1746 | 46360499 |
| 492 | RP2 | X | 0.98765432098765 | 13 | 1053 | 46737000-46737007, 46739176-46739180 |
| 493 | CFP | X | 0.99858156028369 | 2 | 1410 | 47485728, 47488990 |
| 494 | WAS | X | 0.99337309476474 | 10 | 1509 | 48547209-48547210, 48547225-48547226, 48547233-48547234, 48547237-48547238, 48547242-48547243 |
| 495 | ARHGEF9 | X | 0.9993552546744 | 1 | 1551 | 62898433 |
| 496 | AR | X | 0.97430329352153 | 71 | 2763 | 66765154-66765155, 66765165-66765208, 66766360-66766362, 66766368-66766389 |
| 497 | OPHN1 | X | 0.9991697799917 | 2 | 2409 | 67283954-67283955 |
| 498 | MED12 | X | 0.98989898989899 | 66 | 6534 | 70338605-70338634, 70338660, 70338700-70338703, 70361098-70361100, 70361112, 70361118-70361121, 70361128-70361130, 70361193-70361212 |
| 499 | GJB1 | X | 0.99530516431925 | 4 | 852 | 70444378-70444381 |
| 500 | TAF1 | X | 0.98240056318198 | 100 | 5682 | 70586165-70586261, 70586265-70586266, 70586294 |
| 501 | SLC16A2 | X | 0.99891422366992 | 2 | 1842 | 73641368, 73641401 |
| 502 | ABCB7 | X | 0.99911582670203 | 2 | 2262 | 74291512-74291513 |
| 503 | ATRX | X | 0.99906404599545 | 7 | 7479 | 76875987-76875991, 76912104, 76912128 |
| 504 | BRWD3 | X | 0.99445368829728 | 30 | 5409 | 79945549, 79945579, 79958980, 79958988, 79991546-79991549, 79991558-79991560, 80064952-80064970 |
| 505 | ZNF711 | X | 0.99868766404199 | 3 | 2286 | 84510753-84510755 |
| 506 | COL4A5 | X | 0.99822064056939 | 9 | 5058 | 107834412, 107834419-107834426 |
| 507 | ACSL4 | X | 0.99672284644195 | 7 | 2136 | 108917662-108917668 |
| 508 | LAMP2 | X | 0.99514563106796 | 6 | 1236 | 119590517-119590520, 119590620, 119590623 |
| 509 | GPC3 | X | 0.98508318990247 | 26 | 1743 | 133119380-133119405 |
| 510 | PHF6 | X | 0.98360655737705 | 18 | 1098 | 133527566-133527583 |
| 511 | SLC9A6 | X | 0.99810066476733 | 4 | 2106 | 135104748, 135104751, 135104815, 135104846 |
| 512 | ZIC3 | X | 0.99786324786325 | 3 | 1404 | 136648985-136648987 |
| 513 | SOX3 | X | 0.98806860551827 | 16 | 1341 | 139585967-139585971, 139585990-139585991, 139585994, 139586145-139586151, 139586497 |
| 514 | SLC6A8 | X | 0.90932914046122 | 173 | 1908 | 152954096-152954204, 152954216-152954246, 152956766-152956772, 152958535-152958536, 152958546, 152959470-152959472, 152959687-152959704, 152960082, 152960591 |
| 515 | ABCD1 | X | 0.93118856121537 | 154 | 2238 | 153008473-153008503, 153008675-153008688, 153008705-153008734, 153008785-153008791, 153008981-153008987, 153009014-153009033, 153009111-153009155 |
| 516 | MECP2 | X | 0.95791583166333 | 63 | 1497 | 153296187, 153363061-153363122 |
| 517 | OPN1LW | X | 0.90228310502283 | 107 | 1095 | 153416343-153416349, 153418453-153418463, 153418511-153418544, 153420173-153420179, 153421800-153421824, 153421897-153421919 |
| 518 | OPN1MW | X | 0.82009132420091 | 197 | 1095 | 153453337-153453343, 153453443-153453449, 153453490-153453496, 153455583-153455601, 153455641-153455674, 153457286-153457309, 153458930-153458954, 153458979-153459010, 153459042-153459083 |
| 519 | OPN1MW | X | 0.81735159817352 | 200 | 1095 | 153490458, 153490561-153490567, 153490608-153490614, 153492701-153492719, 153492759-153492792, 153494404-153494427, 153496054-153496072, 153496085-153496128, 153496157-153496201 |
| 520 | IKBKG | X | 0.98838797814208 | 17 | 1464 | 153780321-153780329, 153789945-153789952 |
| Effect rank | Variant | Phase/ Zygosity | Allele freq | Impact | Evaluation | Summary / Info |
|---|---|---|---|---|---|---|
| 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 | ADA-D8N | het unknown | 0.009 | Complex/Other pathogenic | Insufficiently evaluated | Prioritization score: 5 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2.5 | LRP5-Q89R | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 2.5 | LRP5-A1330V | homozygous | 0.120 | Complex/Other pathogenic | Low clinical importance, uncertain | In a study of a UK population this variant was associated with a small increased risk of osteoporosis and osteoporotic bone fractures, with each copy of the variant presumed to have an additive effect. A study in Chinese young men failed to find an association with peak bone density. |
| 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 | homozygous | 0.211 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | NEFL-S472Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 2 | UGT1A1-R9V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 2 | UGT1A1-G71R | het unknown | 0.093 | Complex/Other pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | PRKCH-V374I | het unknown | 0.015 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown |
| 2 | AURKA-I57V | homozygous | 0.814 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 2 | AURKA-F31I | homozygous | 0.366 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 2 | OPTN-M98K | het unknown | 0.055 | Unknown pathogenic | Moderate clinical importance, uncertain | This variant was initially reported to be a risk factor for glaucoma, but subsequent reports have failed to find a statistically significant association. It may have a modifier effect, with carriers of the variant having lower intraocular pressure on average -- pressures that might be considered normal in other individuals would be abnormally high for carriers of this variant. |
| 2 | OPTN-K322E | homozygous | 0.986 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | CCR5-R223Q | het unknown | 0.023 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.202 (possibly damaging) |
| 2 | APOE-C130R | homozygous | 0.010 | Complex/Other pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests |
| 2 | HLA-DQA1-L8M | homozygous | 0.457 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | HLA-DQA1-M18T | homozygous | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | HLA-DQA1-Q57E | homozygous | 0.203 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | HLA-DQA1-A68V | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 2 | HLA-DQA1-R70Q | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 2 | HLA-DQA1-W71L | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 2 | HLA-DQA1-E73L | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 2 | HLA-DQA1-S75R | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 2 | HLA-DQA1-K76R | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 2 | HLA-DQA1-G78R | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 2 | HLA-DQA1-G79R | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 2 | HLA-DQA1-G84F | homozygous | 0.122 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | HLA-DQA1-R87T | homozygous | 0.170 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | HLA-DQA1-M89I | homozygous | 0.200 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | HLA-DQA1-M99V | homozygous | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 2 | HLA-DQA1-Y103S | homozygous | 0.544 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | HLA-DQA1-Q152H | homozygous | 0.526 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | HLA-DQA1-Q198E | homozygous | 0.362 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | BLMH-I443V | homozygous | 0.241 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1.5 | FUT6-R303G | homozygous | 0.107 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.725 (possibly damaging) |
| 1.5 | FUT6-P124S | homozygous | 0.496 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.614 (possibly damaging) |
| 1.5 | KCNJ11-V337I | homozygous | 0.761 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1.5 | KCNJ11-K23E | homozygous | 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. |
| 1.5 | LOXL1-R141L | het unknown | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.998 (probably damaging) | |
| 1 | C19orf55-G398Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | INSR-A2G | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | MSH6-G39E | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.873 (probably damaging), Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-V33067I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-I28155V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-R26717C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-E24129D | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-I23649T | het unknown | Unknown not reviewed | 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-V18852A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-T18827I | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-P17286L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-R16903H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-N16125D | het unknown | 0.469 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-I9278V | het unknown | 0.450 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-N7559S | het unknown | 0.231 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-S7181N | het unknown | 0.232 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-A7111E | het unknown | 0.421 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-E6900A | het unknown | 0.226 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-D6218H | het unknown | 0.233 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 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-Q3162R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-S1295L | het unknown | 0.881 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-Q729W | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-R328C | het unknown | 0.242 | 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 | NQO1-P187S | homozygous | 0.283 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.215 (possibly damaging) |
| 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-Q424R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | ATG9B-A765Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ATG9B-N493S | het unknown | 0.079 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 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-I122T | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQB1-G121T | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 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-F41Y | homozygous | 0.789 | 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 | HSH2D-S223Shift | homozygous | 0.016 | 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-G318R | het unknown | 0.165 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.006 (benign) |
| 1 | ANKK1-G442R | homozygous | 0.541 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | ANKK1-H490R | het unknown | 0.210 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 1 | ANKK1-E713K | het unknown | 0.347 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | IL12RB1-A91T | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | PLEKHA2-P389Shift | homozygous | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | ZFYVE26-M1609T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | ZFYVE26-P1103L | homozygous | 0.077 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.899 (probably damaging), Testable gene in GeneTests |
| 1 | BANK1-R61H | het unknown | 0.221 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | BANK1-C650R | homozygous | 0.990 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | C8orf49-G26R | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | C8orf49-I81V | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | C8orf49-C194* | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 1 | DNAH7-L3319P | homozygous | 0.914 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | DNAH7-I1131T | homozygous | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 1 | TCP11-G6Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 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 | RYK-S95N | het unknown | 0.156 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | RYK-L17Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | NR_015394-G45W | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | NR_015394-F74S | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | NR_015394-T113Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | MAPT-Y441H | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 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 | CUL7-Q813R | homozygous | 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 | AKAP10-I646V | het unknown | 0.434 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | AKAP10-R249H | het unknown | 0.427 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | ELAC2-PQ808RP | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | ELAC2-S217L | het unknown | 0.209 | Complex/Other pathogenic | Low clinical importance, uncertain | Reported to be associated with increased susceptibility to prostate cancer, but later studies weaken the hypothesis. Xu et al.'s meta-analysis concludes that there is a small but significant increased risk (OR = 1.13). Assuming a lifetime risk of 16% for prostate cancer we calculate this leads to an increased risk of ~1.5% (17.5% total). |
| 1 | LRP11-P92R | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.988 (probably damaging) | |
| 1 | AIM1-E1196A | homozygous | 0.935 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.015 (benign) |
| 1 | PIK3R6-L609Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | SH2B3-W262R | homozygous | 0.768 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | SH2B3-E314K | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | CDKN1A-S31R | het unknown | 0.271 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | CYBA-V174A | het unknown | 0.417 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | CYBA-Y72H | homozygous | 0.649 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | ZFPM1-E444Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ZFPM1-L446Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 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 | ATP8B1-A1152T | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | ATP8B1-M674T | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | ATP8B1-I577V | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.97 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | ATP8B1-H78Q | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | KRT4-G160GAGGFGAGFGTGGFG | homozygous | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | EGFR-R521K | homozygous | 0.259 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | COPZ2-G19Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | AP1S2-T35A | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | AP1S2-R29P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | ZNF167-N494Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | SPG7-T503A | het unknown | 0.095 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | SPG7-R688Q | het unknown | 0.072 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.203 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | SCN4A-N1376D | homozygous | 0.604 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SCN4A-V781I | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | SCN4A-S524G | homozygous | 0.938 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | B3GNT6-L316Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | B3GNT6-L335Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | TPSB2-P151Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ADAMTSL3-H146R | homozygous | 0.706 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.04 (benign) |
| 1 | ADAMTSL3-L290V | homozygous | 0.833 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | ADAMTSL3-V661L | homozygous | 0.711 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | ADAMTSL3-L869F | het unknown | 0.272 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.148 (benign) |
| 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 | 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-P1121R | 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 | COL18A1-A1441V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | AX746903-T82Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | NR_027242-N339D | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | NR_027242-C222Shift | het unknown | 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 | ANXA11-R230C | homozygous | 0.382 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 1 | HRNR-L2688S | homozygous | 0.939 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-S890P | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 1 | HRNR-Y517C | homozygous | 0.185 | 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-Q376R | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-M1Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | GSTM1-K173N | homozygous | 1.000 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | SCARF2-DV772EL | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | SCARF2-E764Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | SCARF2-P747Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | SCARF2-A745Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | SCARF2-T425S | het unknown | 0.267 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | SCARF2-P174S | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | CILP-G1166S | homozygous | 0.766 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | CILP-Q979R | homozygous | 0.986 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | CILP-V678M | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 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 | LIPM-W18R | homozygous | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.985 (probably damaging) |
| 1 | PTCHD3-*768Q | het unknown | 0.570 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | PTCHD3-I584M | homozygous | 0.963 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | PTCHD3-M521T | het unknown | 0.498 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | PTCHD3-D473G | het unknown | 0.499 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.849 (possibly damaging) |
| 1 | PTCHD3-C407G | homozygous | 0.490 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 1.0 (probably damaging) |
| 1 | PTCHD3-S309Shift | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | 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 | 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 | CYP2D6-M377Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | CYP2D6-C296R | homozygous | 0.649 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | CYP2D6-F120I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | CYP2D6-P34S | homozygous | 0.224 | Complex/Other pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | AX746750-S137Shift | homozygous | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | IL13-Q144R | homozygous | 0.766 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | ALG6-S306F | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | BC112980-K147Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | KRTAP7-1-Y17Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | TCEAL6-Q175Shift | homozygous | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | EDN1-K198N | het unknown | 0.235 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign) |
| 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 | homozygous | 0.575 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | USH2A-I2106T | het unknown | 0.629 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | USH2A-S1122A | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.937 (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 | ZNF761-L47Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ZNF761-G108A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ZNF761-I122S | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ZNF761-V168I | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ZNF761-R459L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ZNF761-Q464K | 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 | ZNF598-G42Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ZNF598-E25G | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ZNF598-E17A | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ZNF598-DM13AL | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ZNF598-G6Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | VSIG10L-Q860Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | VSIG10L-R592Q | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | VSIG10L-M356I | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | VSIG10L-N3T | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | HLA-H-D29A | homozygous | 0.071 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-H-P32Q | homozygous | 0.060 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-H-E34M | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-H-C238S | homozygous | 0.729 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | MS4A14-I56Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | MS4A14-N177Y | homozygous | 0.543 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.981 (probably damaging) |
| 1 | MS4A14-G584R | homozygous | 0.513 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 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 | TNXB-R48P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | AX746964-G175Shift | homozygous | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | AX746964-K166I | homozygous | 0.628 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HLA-L-H17R | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | HLA-L-I30V | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | HLA-L-R38Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | HLA-L-A142V | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | HLA-L-W144* | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 1 | HLA-L-C172Y | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | FAIM3-R307P | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.996 (probably damaging) | |
| 1 | DEFB126-M51T | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.84 (possibly damaging) |
| 1 | DEFB126-K76R | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 1 | DEFB126-P106Shift | homozygous | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | ZSCAN5B-V208I | homozygous | 0.490 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.07 (benign) |
| 1 | ZSCAN5B-S8L | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.97 (probably damaging) | |
| 1 | AK300656-R11* | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 1 | F5-L1397F | homozygous | 0.302 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | F5-Q534R | homozygous | 0.991 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | F5-R513K | homozygous | 0.296 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | PADI6-V343Shift | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | PKD1-T3510M | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.932 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | PKD1-H2638R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | PKD1-T1986M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | PKD1-T1186I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | BC040901-C89W | homozygous | 0.706 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | BC040901-P93S | homozygous | 0.548 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | BC040901-A106Shift | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | BDNF-V148M | homozygous | 0.208 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.875 | NPC1-W1122Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 0.875 | 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 |
| 0.875 | NPC1-M642I | homozygous | 0.863 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.875 | 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 |
| 0.5 | EYS-R2326Q | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | EYS-N1902I | homozygous | 0.316 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EYS-L1419S | het unknown | 0.780 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EYS-L852P | het unknown | 0.655 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EYS-T120M | het unknown | 0.165 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 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 | KIF4B-I834Shift | het unknown | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | HK3-R513* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | HK3-R364C | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.942 (probably damaging) |
| 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-N830S | het unknown | 0.099 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL11A2-P1316T | het unknown | 0.072 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLT4-H890Q | homozygous | 0.355 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.714 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | TNXB-G2518E | homozygous | 0.658 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TNXB-H1161R | homozygous | 0.568 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TNXB-R490Q | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LAMA2-P564Shift | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests |
| 0.5 | LAMA2-H1441N | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | LAMA2-A2585V | het unknown | 0.594 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PROP1-N20S | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FGFR4-V10I | het unknown | 0.221 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FGFR4-P136L | homozygous | 0.768 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FGFR4-G388R | het unknown | 0.301 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.481 (possibly damaging) |
| 0.5 | MUT-I671V | homozygous | 0.522 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MUT-R532H | het unknown | 0.238 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NIPAL4-R213G | homozygous | 0.505 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MSX2-M129T | homozygous | 0.716 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | 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-I259T | homozygous | 0.344 | 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 | ARMC10-R29W | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (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 | 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 | homozygous | 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 | 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 | het unknown | 0.619 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | IPPK-L376F | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.865 (probably damaging) |
| 0.5 | FAM22F-P387S | het unknown | 0.014 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | FAM22F-R176G | homozygous | 0.903 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 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 | TG-S734A | homozygous | 0.698 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TG-G815R | het unknown | 0.073 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TG-R988P | het unknown | 0.082 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.228 (possibly damaging), Testable gene in GeneTests |
| 0.5 | TG-M1028V | homozygous | 0.696 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.5 | TG-R1999W | het unknown | 0.372 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TG-W2501R | het unknown | 0.566 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.031 (benign), Testable gene in GeneTests |
| 0.5 | TG-R2530Q | het unknown | 0.586 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 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 | VPS13B-V2559A | het unknown | 0.106 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | VPS13B-G3407R | homozygous | 0.116 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NCRNA00255-P39Shift | het unknown | 0.013 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | SLC30A8-R325W | het unknown | 0.225 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | HSD17B3-G289S | het unknown | 0.128 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HSD17B3-V31I | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ABCA1-L1648V | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ABCA1-K1587R | het unknown | 0.486 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ABCA1-I883M | homozygous | 0.427 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ABCA1-V825I | het unknown | 0.160 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ABCA1-R219K | het unknown | 0.498 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests |
| 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 | homozygous | 0.915 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PTF1A-A129V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | PTF1A-S263P | homozygous | 0.654 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests |
| 0.5 | PPYR1-A99S | het unknown | 0.244 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.03 (benign) |
| 0.5 | PPYR1-R240C | het unknown | 0.220 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.332 (possibly damaging) |
| 0.5 | PPYR1-V276M | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.889 (probably damaging) | |
| 0.5 | ERCC6-G399D | homozygous | 0.246 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NDOR1-R30G | het unknown | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.894 (probably damaging) |
| 0.5 | AGRN-V554M | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.984 (probably damaging), Testable gene in GeneTests |
| 0.5 | AGRN-T1026N | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | DFNB31-N796K | het unknown | 0.197 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-V783A | het unknown | 0.405 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-H752Q | homozygous | 0.983 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-M613T | het unknown | 0.487 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-A440T | het unknown | 0.197 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-R364H | homozygous | 0.968 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SETX-I2587V | homozygous | 0.591 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SETX-T1855A | homozygous | 0.508 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SETX-F1152C | het unknown | 0.109 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SETX-A660G | het unknown | 0.242 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL5A1-P21S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | COL5A1-T1757M | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CLIC3-P235S | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | NBN-E185Q | homozygous | 0.338 | 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 | AOAH-P243L | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 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 | GLI3-P998L | homozygous | 0.444 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GLI3-T183A | homozygous | 0.663 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | BBS9-A455T | homozygous | 0.135 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-T400I | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-A568T | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 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-A3474T | homozygous | 0.501 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-V3715L | het unknown | 0.452 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-M4172V | het unknown | 0.334 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-T4177I | het unknown | 0.359 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ULBP3-Y18* | het unknown | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | SYNE1-L8741M | het unknown | 0.098 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SYNE1-G8323A | het unknown | 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-T5426M | het unknown | 0.067 | 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-A2795V | het unknown | 0.260 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SYNE1-V1035A | homozygous | 0.632 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.673 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC22A2-S270A | homozygous | 0.876 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | PMS2-K541E | homozygous | 0.904 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKD1L1-R1922W | het unknown | 0.159 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | PKD1L1-K1272E | homozygous | 0.920 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | PKD1L1-F988L | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.863 (probably damaging) |
| 0.5 | PKD1L1-V312F | het unknown | 0.481 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.991 (probably damaging) |
| 0.5 | ABCB1-S893A | homozygous | 0.625 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | NAT2-R197Q | het unknown | 0.272 | Recessive pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | NAT2-R268K | homozygous | 0.675 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | DOCK5-M987L | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.994 (probably damaging) |
| 0.5 | DOCK5-L1204H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | DOCK5-K1285R | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PREX2-R1394W | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | PEX2-C184R | homozygous | 0.990 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-R171S | homozygous | 0.865 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-D314H | homozygous | 0.648 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-D392G | homozygous | 0.979 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-A761V | homozygous | 0.504 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-P828S | het unknown | 0.241 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MLL3-C1114R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | MLL3-R1092* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | MLL3-G845E | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) | |
| 0.5 | COL1A2-P549A | homozygous | 0.907 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PON1-I271L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | PON1-Q192R | homozygous | 0.572 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | CYP3A7-R409T | homozygous | 0.669 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | CLCN1-G118W | homozygous | 0.995 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CLCN1-P727L | het unknown | 0.325 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DCK-P122S | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 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 | ZNF692-S401G | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.967 (probably damaging) |
| 0.5 | ZNF692-P230R | het unknown | 0.204 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.025 (benign) |
| 0.5 | APOB-S4338N | het unknown | 0.725 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | APOB-P2739L | het unknown | 0.346 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | APOB-I2313V | homozygous | 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 | homozygous | 0.494 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | APOB-R532W | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | OTOF-S346L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | OTOF-R49W | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | ALK-D1529E | homozygous | 0.606 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALK-K1491R | homozygous | 0.405 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALK-I1461V | homozygous | 0.982 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | 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 | AGT-M268T | homozygous | 0.733 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CRB1-R769H | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CHIT1-A442G | het unknown | 0.092 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CHIT1-V357V* | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation, Testable gene in GeneTests |
| 0.5 | CHIT1-T255S | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.009 (benign), Testable gene in GeneTests |
| 0.5 | CHIT1-A170S | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.002 (benign), Testable gene in GeneTests |
| 0.5 | CHIT1-R40H | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.523 (possibly damaging), Testable gene in GeneTests |
| 0.5 | EPHX1-R43T | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | EPHX1-Y113H | het unknown | 0.290 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | EPHX1-H139R | het unknown | 0.210 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 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-V1508D | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.005 (benign) |
| 0.5 | OBSCN-D2106E | homozygous | 0.723 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.04 (benign) |
| 0.5 | OBSCN-F2116L | homozygous | 0.710 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.182 (benign) |
| 0.5 | OBSCN-V2720M | het unknown | 0.306 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.839 (possibly damaging) |
| 0.5 | OBSCN-A3300T | het unknown | 0.312 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.552 (possibly damaging) |
| 0.5 | OBSCN-G4039R | het unknown | 0.228 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.932 (probably damaging) |
| 0.5 | OBSCN-H4381R | homozygous | 0.716 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.99 (probably damaging) |
| 0.5 | OBSCN-C4450R | homozygous | 0.754 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.907 (probably damaging) |
| 0.5 | OBSCN-H4489Q | het unknown | 0.155 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.583 (possibly damaging) |
| 0.5 | OBSCN-R4516W | het unknown | 0.421 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.65 (possibly damaging) |
| 0.5 | OBSCN-R4534H | het unknown | 0.348 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.515 (possibly damaging) |
| 0.5 | OBSCN-P4625Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | OBSCN-Q4626Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | OBSCN-S4642C | homozygous | 0.737 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.058 (benign) |
| 0.5 | OBSCN-G4666S | het unknown | 0.162 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.467 (possibly damaging) |
| 0.5 | OBSCN-D4962G | het unknown | 0.703 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.467 (possibly damaging) |
| 0.5 | OBSCN-L5269V | het unknown | 0.323 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.032 (benign) |
| 0.5 | OBSCN-Q5891E | het unknown | 0.573 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.027 (benign) |
| 0.5 | OBSCN-P6272S | het unknown | 0.056 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.402 (possibly damaging) |
| 0.5 | OBSCN-A7172V | het unknown | 0.644 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.012 (benign) |
| 0.5 | OBSCN-R7682C | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.838 (possibly damaging) |
| 0.5 | RTN4-D357V | het unknown | 0.029 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | AAK1-T558Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | AAK1-M557Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | AAK1-Q546Del | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | AAK1-K509Q | homozygous | 0.997 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 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 | LRP2-K4094E | het unknown | 0.744 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | LRP2-A2872T | het unknown | 0.327 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | LRP2-D1279A | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | LRP2-N83S | het unknown | 0.306 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | COL3A1-A698T | het unknown | 0.181 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL3A1-H1353Q | homozygous | 0.990 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | 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 | MARCH7-T193I | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.97 (probably damaging) |
| 0.5 | NEB-I6534V | het unknown | 0.372 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-A6277P | homozygous | 0.691 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-R4389T | homozygous | 0.724 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-W3348C | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | NEB-S2912P | het unknown | 0.526 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-K2613N | het unknown | 0.138 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-H1991Y | het unknown | 0.194 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-V1491M | het unknown | 0.453 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-V1479I | het unknown | 0.422 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-Y1301H | het unknown | 0.668 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-K1027N | het unknown | 0.476 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-D305G | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MPHOSPH10-T30K | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | MPHOSPH10-R115H | het unknown | 0.192 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.038 (benign) |
| 0.5 | MPHOSPH10-L425M | het unknown | 0.002 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.96 (probably damaging) |
| 0.5 | ALMS1-S524SP | homozygous | 0.578 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-V671G | homozygous | 0.857 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-V805L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | ALMS1-R4029K | homozygous | 0.527 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MOGS-P293S | homozygous | 0.619 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MOGS-D239N | homozygous | 0.561 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.031 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FAM123C-A178G | homozygous | 0.102 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.101 (benign) |
| 0.5 | FAM123C-S340P | homozygous | 0.595 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FAM123C-P433S | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.956 (probably damaging) |
| 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 | ASPM-L2647I | het unknown | 0.198 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ASPM-S2562G | het unknown | 0.212 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ASPM-Y2494H | homozygous | 0.992 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CFHR1-E175Q | homozygous | 0.518 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, 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 | het unknown | 0.477 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CPT2-M647V | het unknown | 0.093 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | OMA1-I294V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | OMA1-F211C | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.989 (probably damaging) |
| 0.5 | OMA1-P117L | het unknown | 0.064 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.983 (probably damaging) |
| 0.5 | LEPR-K109R | homozygous | 0.332 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.026 (benign), Testable gene in GeneTests |
| 0.5 | LEPR-Q223R | homozygous | 0.569 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.484 (possibly damaging), Testable gene in GeneTests |
| 0.5 | CYP4A22-R126W | het unknown | 0.289 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CYP4A22-G130S | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) | |
| 0.5 | CYP4A22-N152Y | homozygous | 0.790 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CYP4A22-C231R | homozygous | 0.598 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CYP4A22-L428P | het unknown | 0.297 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FAAH-P129T | het unknown | 0.237 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign) |
| 0.5 | RNF207-N573S | het unknown | 0.474 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | RNF207-G603A | het unknown | 0.165 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign) |
| 0.5 | PRAMEF10-W253* | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | RNF186-E139Q | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.902 (probably damaging) |
| 0.5 | ADC-A288S | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.967 (probably damaging) |
| 0.5 | DPYD-R29C | homozygous | 0.731 | Complex/Other pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | COL11A1-S1547P | homozygous | 0.752 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL11A1-P1335L | het unknown | 0.479 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL11A1-K276N | het unknown | 0.086 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FCGR3A-F212V | homozygous | 0.818 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 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 | HMCN1-I2418T | homozygous | 0.553 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests |
| 0.5 | HMCN1-E2893G | homozygous | 0.617 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.91 (probably damaging), Testable gene in GeneTests |
| 0.5 | HMCN1-Q4437R | homozygous | 0.547 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests |
| 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 | het unknown | 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 | FCRL3-V93G | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.973 (probably damaging) |
| 0.5 | RHBG-V143D | het unknown | 0.236 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | RHBG-G315R | homozygous | 0.550 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | RHBG-P424Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | RHBG-H428R | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | PDE4DIP-R2052Q | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.996 (probably damaging) |
| 0.5 | PDE4DIP-D1910E | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PDE4DIP-R1867C | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | PDE4DIP-A1757T | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.5 | PDE4DIP-P1726PP | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | PDE4DIP-H1598R | het unknown | 0.245 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | PDE4DIP-R1504Q | het unknown | 0.904 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PDE4DIP-K1454E | het unknown | 0.238 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.931 (probably damaging) |
| 0.5 | PDE4DIP-W1396R | homozygous | 0.667 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PDE4DIP-K1359E | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.028 (benign) |
| 0.5 | PDE4DIP-T1322R | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.053 (benign) |
| 0.5 | PDE4DIP-L1272F | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.891 (probably damaging) |
| 0.5 | PDE4DIP-K1266E | het unknown | 0.194 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.956 (probably damaging) |
| 0.5 | PDE4DIP-S1205P | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | PDE4DIP-A1066T | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.123 (benign) |
| 0.5 | PDE4DIP-F1013I | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PDE4DIP-C708R | homozygous | 0.900 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | PDE4DIP-R681H | het unknown | 0.282 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | PDE4DIP-R622* | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Nonsense mutation |
| 0.5 | PDE4DIP-S536T | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.914 (probably damaging) |
| 0.5 | PDE4DIP-H482R | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PDE4DIP-E410V | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | PDE4DIP-S275L | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.419 (possibly damaging) |
| 0.5 | PDE4DIP-R25L | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 1.0 (probably damaging) |
| 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 | TCHHL1-Q656* | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | GBA-K144R | homozygous | 0.619 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GBA-R140W | homozygous | 0.357 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-S3970L | het unknown | 0.051 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.774 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-R3738H | homozygous | 0.134 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.278 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-V3179G | homozygous | 0.339 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-G2545R | homozygous | 0.292 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-H2507Q | homozygous | 0.318 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-L2481S | homozygous | 0.222 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-K2444E | homozygous | 0.188 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-S2366T | homozygous | 0.125 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.967 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-D2339N | homozygous | 0.179 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-H2209R | het unknown | 0.119 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-Y2194H | homozygous | 0.522 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-K2192Q | het unknown | 0.235 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-Y2119H | het unknown | 0.119 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-H1961Q | homozygous | 0.418 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-R1699C | homozygous | 0.428 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-R1684H | homozygous | 0.190 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-S1482Y | homozygous | 0.243 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-R1376G | homozygous | 0.170 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-R1360H | homozygous | 0.164 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-A1167G | homozygous | 0.425 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-P478S | homozygous | 0.318 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-T454A | homozygous | 0.328 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.075 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-G444R | homozygous | 0.319 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-G332V | homozygous | 0.227 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | 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 | WNT10A-R171C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | WNT10A-G213S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 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 | 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 | LRIT3-R66G | het unknown | 0.042 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | LRIT3-L144F | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | EGF-M708I | het unknown | 0.667 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | EGF-E920V | homozygous | 0.935 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | EGF-Q1136Shift | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | ADH1B-H48R | het unknown | 0.678 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 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 | SLC2A9-R294H | homozygous | 0.296 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests |
| 0.5 | TLR1-S602I | homozygous | 0.727 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | TLR1-N248S | homozygous | 0.643 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | TLR6-S249P | homozygous | 0.855 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | UGT2B7-Y268H | homozygous | 0.727 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | ALPK1-H642R | het unknown | 0.663 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ALPK1-M861T | het unknown | 0.664 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ALPK1-G870S | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.158 (benign) |
| 0.5 | ALPK1-E910D | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.956 (probably damaging) |
| 0.5 | ALPK1-N916D | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.004 (benign) |
| 0.5 | ALPK1-S942Del | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | TLR3-L412F | het unknown | 0.200 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging) |
| 0.5 | TLR3-H432R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | FBN2-M2311V | het unknown | 0.242 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FBN2-V965I | het unknown | 0.714 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FBN2-I243T | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC27A6-R341W | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | SHROOM1-P180L | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.976 (probably damaging) | |
| 0.5 | SRA1-V110RL | homozygous | 0.360 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | APC-V1822D | homozygous | 0.887 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-L1093F | homozygous | 0.835 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-V1951I | homozygous | 0.820 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-P1987L | homozygous | 0.333 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.366 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-Y2232C | homozygous | 0.349 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.989 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-N2345S | homozygous | 0.304 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-N2584S | homozygous | 0.825 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-E3471K | homozygous | 0.834 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-E3867K | homozygous | 0.356 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-E5344G | homozygous | 0.903 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-V5427M | homozygous | 0.918 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-V5876I | homozygous | 0.424 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.94 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SDHA-G184R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | SDHA-V333I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | DNAH5-I4450V | het unknown | 0.481 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-T4220A | het unknown | 0.178 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.959 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-A4134V | het unknown | 0.450 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-L2862F | het unknown | 0.212 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-Q2463R | het unknown | 0.263 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-T558A | homozygous | 0.395 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.791 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-G24E | homozygous | 0.496 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 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 | C7-C128R | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | C7-S389T | het unknown | 0.471 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.986 (probably damaging) |
| 0.5 | TMEM161B-V383I | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.882 (probably damaging) |
| 0.5 | TMEM161B-T266I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | CCNO-I219Shift | het unknown | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 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 | EVC-Q74P | het unknown | 0.092 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests |
| 0.5 | EVC-Y258H | homozygous | 0.721 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests |
| 0.5 | EVC-T449K | homozygous | 0.871 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EVC-R576Q | het unknown | 0.274 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests |
| 0.5 | CCR2-V64I | het unknown | 0.148 | Unknown protective | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign) |
| 0.5 | COL7A1-T952G | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLNB-D1157N | homozygous | 0.538 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLNB-V1471M | homozygous | 0.607 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.02 (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 | XPC-Q939K | het unknown | 0.683 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | XPC-L16V | het unknown | 0.091 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ANO7-V67I | homozygous | 0.183 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.5 | ANO7-F250Y | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | OBSL1-R1767Q | het unknown | 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-E1365D | homozygous | 0.723 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | OBSL1-R723K | homozygous | 0.770 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SCG2-Y61H | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | COL4A3-L141P | homozygous | 0.760 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A3-E162G | homozygous | 0.764 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A3-E269K | het unknown | 0.096 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL6A3-A3012P | het unknown | 0.843 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL6A3-T98S | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ARL13B-T348S | het unknown | 0.095 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | UPK1B-Q113R | homozygous | 0.902 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | UPK1B-N137D | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.989 (probably damaging) |
| 0.5 | IDUA-H33Q | homozygous | 0.750 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | RGS12-M277L | het unknown | 0.044 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.073 (benign) |
| 0.5 | RGS12-R633Q | het unknown | 0.038 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.913 (probably damaging) |
| 0.5 | DOK7-R38G | homozygous | 0.208 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DOK7-R38G | homozygous | 0.208 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DOK7-P49L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | DOK7-H113P | homozygous | 0.183 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DOK7-R120Q | homozygous | 0.146 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DOK7-T137I | homozygous | 0.177 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MYL5-T86I | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.971 (probably damaging) |
| 0.5 | ZNF141-I11V | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.907 (probably damaging) |
| 0.5 | CASR-R990G | het unknown | 0.199 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.939 (probably damaging), Testable gene in GeneTests |
| 0.5 | CASR-E1011Q | homozygous | 0.916 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MRPL3-M261T | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.977 (probably damaging) |
| 0.5 | EIF2B5-I587V | homozygous | 0.370 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CPN2-Q509W | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | OPA1-Q15K | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | OPA1-S158N | het unknown | 0.482 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ENTPD2-L241P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | ENTPD2-L96P | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | PABPC3-E345* | het unknown | 0.044 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | ZNF101-H127R | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (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 | CDAN1-G657S | het unknown | 0.122 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDAN1-Q596R | het unknown | 0.498 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDAN1-A148V | het unknown | 0.089 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.036 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDAN1-Q107L | het unknown | 0.175 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PLA2G4F-P799R | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.976 (probably damaging) |
| 0.5 | PLA2G4F-M740V | homozygous | 0.831 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | AHNAK2-P5397A | homozygous | 0.435 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.149 (benign) |
| 0.5 | AHNAK2-Y5184D | homozygous | 0.626 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | AHNAK2-G5139E | het unknown | 0.273 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.417 (possibly damaging) |
| 0.5 | AHNAK2-P4821S | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | AHNAK2-P4755S | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.912 (probably damaging) |
| 0.5 | AHNAK2-T4664A | homozygous | 0.558 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | AHNAK2-M4536L | het unknown | 0.426 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.267 (possibly damaging) |
| 0.5 | AHNAK2-L4326P | homozygous | 0.548 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | AHNAK2-L4321V | homozygous | 0.540 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 0.5 | AHNAK2-V4278A | homozygous | 0.466 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | AHNAK2-M3961V | het unknown | 0.371 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | AHNAK2-M3869V | homozygous | 0.558 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.04 (benign) |
| 0.5 | AHNAK2-G3654E | homozygous | 0.555 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.204 (possibly damaging) |
| 0.5 | AHNAK2-V3363A | homozygous | 0.542 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.009 (benign) |
| 0.5 | AHNAK2-P3336L | homozygous | 0.333 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | AHNAK2-S3273G | het unknown | 0.286 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.028 (benign) |
| 0.5 | AHNAK2-M3260T | het unknown | 0.174 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.04 (benign) |
| 0.5 | AHNAK2-E3194Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | AHNAK2-R3076H | homozygous | 0.528 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.233 (possibly damaging) |
| 0.5 | AHNAK2-E3029Q | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.006 (benign) |
| 0.5 | AHNAK2-R2862S | homozygous | 0.563 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.021 (benign) |
| 0.5 | AHNAK2-S2666F | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.778 (possibly damaging) |
| 0.5 | AHNAK2-G2517V | het unknown | 0.533 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.04 (benign) |
| 0.5 | AHNAK2-E2503A | homozygous | 0.904 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.778 (possibly damaging) |
| 0.5 | AHNAK2-P2387S | homozygous | 0.533 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.011 (benign) |
| 0.5 | AHNAK2-L2333P | homozygous | 0.548 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.5 | AHNAK2-M2107V | homozygous | 0.276 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | AHNAK2-E1856D | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | AHNAK2-V1610A | homozygous | 0.596 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | AHNAK2-P1562L | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.058 (benign) | |
| 0.5 | AHNAK2-L1486V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | AHNAK2-M1298I | homozygous | 0.830 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.016 (benign) |
| 0.5 | AHNAK2-A1175V | het unknown | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | AHNAK2-E1148D | homozygous | 0.974 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.5 | AHNAK2-V1133I | homozygous | 0.421 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 0.5 | AHNAK2-M852V | het unknown | 0.159 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.024 (benign) |
| 0.5 | AHNAK2-P747T | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.025 (benign) |
| 0.5 | AHNAK2-P744L | het unknown | 0.169 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.069 (benign) |
| 0.5 | AHNAK2-Q726H | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.96 (probably damaging) |
| 0.5 | AHNAK2-T525A | het unknown | 0.226 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.017 (benign) |
| 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 | OCA2-H615R | homozygous | 0.313 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | JAK3-K482W | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | DUOXA1-R133L | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.881 (probably damaging) |
| 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 | CHRNA5-H462Q | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) |
| 0.5 | SLC24A1-T37S | homozygous | 0.322 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SLC24A1-S332Shift | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | SLC24A1-E886EQEEEEEEEE | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | TYK2-R703W | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.967 (probably damaging), Testable gene in GeneTests |
| 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 | SCN1B-R187H | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SCN1B-L210P | het unknown | 0.424 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | NPHS1-E117K | homozygous | 0.297 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests |
| 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 | TEP1-C1468Y | het unknown | 0.268 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TEP1-S1447T | het unknown | 0.077 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TEP1-S1195P | het unknown | 0.703 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TEP1-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 | 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 | SIX5-P635S | homozygous | 0.533 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SIX5-L556V | homozygous | 0.833 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | BRCA2-N289H | het unknown | 0.062 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | BRCA2-N991D | het unknown | 0.069 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | BRCA2-V2466A | homozygous | 0.954 | Dominant benign | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | BRCA2-I3412V | het unknown | 0.056 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FPR1-E346A | het unknown | 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-I11T | homozygous | 0.831 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | CLYBL-I241V | homozygous | 0.851 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.048 (benign) |
| 0.5 | CLYBL-R259* | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 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 | TBX21-H33Q | het unknown | 0.053 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.251 (possibly damaging) |
| 0.5 | KIRREL2-G79R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.994 (probably damaging) |
| 0.5 | KIRREL2-K591E | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MLH3-N826D | homozygous | 0.981 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GALC-T641A | homozygous | 0.892 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GALC-I562T | het unknown | 0.446 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.167 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MTHFD1-K134R | homozygous | 0.846 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MTHFD1-R653Q | het unknown | 0.320 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.008 (benign) |
| 0.5 | SYNE2-L956F | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | SYNE2-M1969T | het unknown | 0.637 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-A2284V | het unknown | 0.637 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-S2359N | het unknown | 0.676 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-A2395T | homozygous | 0.835 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SYNE2-I2564V | het unknown | 0.030 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SYNE2-S2802G | homozygous | 0.864 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.012 (benign), Testable gene in GeneTests |
| 0.5 | SYNE2-I2942V | het unknown | 0.622 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SYNE2-E3026D | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.027 (benign), Testable gene in GeneTests |
| 0.5 | SYNE2-D3253H | het unknown | 0.684 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-H3309R | het unknown | 0.647 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | SYNE2-L5186M | het unknown | 0.708 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | FANCM-K515N | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | FANCM-H1103P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | ZNF571-K593E | het unknown | 0.042 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.996 (probably damaging) |
| 0.5 | ZNF571-L573H | het unknown | 0.457 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | ZNF571-E252D | het unknown | 0.433 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.182 (benign) |
| 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 | SLC28A1-V189I | het unknown | 0.313 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | SLC28A1-Q237K | het unknown | 0.241 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SLC28A1-R510C | homozygous | 0.133 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | TSC2-M286V | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.748 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MYH1-R1272W | het unknown | 0.029 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
| 0.5 | TNFRSF13B-P251L | homozygous | 0.206 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.183 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | TNFRSF13B-R84T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 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 | MYH8-R1292* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Nonsense mutation, Testable gene in GeneTests | |
| 0.5 | MYH8-R706H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | MYH8-A636V | het unknown | 0.047 | 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 | CTNS-P380A | homozygous | 0.203 | 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 | AK057217-P409R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | AK057217-Q310* | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | AK057217-R244S | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | DNAI2-A558T | homozygous | 0.674 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 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 | GPATCH8-Q1001L | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.988 (probably damaging) |
| 0.5 | CDC27-L619F | het unknown | 0.200 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CDC27-F617L | het unknown | 0.150 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CDC27-H615R | het unknown | 0.429 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CDC27-TL611SA | het unknown | 0.053 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CDC27-S584G | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | CDC27-N260H | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.481 (possibly damaging) | |
| 0.5 | CDC27-L254* | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | CDC27-I235T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | CDC27-Y234S | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.143 (benign) | |
| 0.5 | NPEPPS-M241T | het unknown | 0.040 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | NPEPPS-G322D | het unknown | 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 | SLC4A1-E72D | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | SLC4A1-D38A | het unknown | 0.044 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | KRT38-S423P | homozygous | 0.919 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | KRT38-Q235* | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | KRT14-A413T | het unknown | 0.024 | Dominant benign | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | KRT14-C63Y | homozygous | 0.976 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | EME1-E69D | het unknown | 0.658 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | EME1-K137KQ | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | EME1-I350T | het unknown | 0.120 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.292 (possibly damaging) |
| 0.5 | EME1-A466P | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.979 (probably damaging) |
| 0.5 | FANCA-G809D | homozygous | 0.671 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FANCA-P643A | het unknown | 0.103 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FANCA-G501S | het unknown | 0.654 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FANCA-A412V | het unknown | 0.093 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FANCA-T266A | homozygous | 0.708 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | 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 | STXBP2-I526V | het unknown | 0.725 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | STXBP2-R555G | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCC6-M848V | homozygous | 0.954 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | REEP6-S78R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | REEP6-V90L | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | ATF7IP2-T682M | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably 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 | NMRAL1-P252L | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.986 (probably damaging) |
| 0.5 | ALG1-S267N | het unknown | 0.053 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ICAM1-K469E | het unknown | 0.297 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | CD19-L174V | homozygous | 0.876 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | KISS1R-L364H | homozygous | 0.875 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DHODH-K7Q | homozygous | 0.560 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.004 (benign) |
| 0.5 | DSC3-R102K | homozygous | 0.479 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DSC3-S78T | homozygous | 0.478 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.314 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ZNF276-W263R | homozygous | 0.568 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.776 (possibly damaging) |
| 0.5 | ZNF276-K422Q | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.968 (probably damaging) |
| 0.5 | MYO5B-L1055LL | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | MYO5B-T126A | homozygous | 0.945 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | GPR56-S281R | homozygous | 0.750 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SALL1-V1275I | homozygous | 0.983 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RPGRIP1L-D1264N | het unknown | 0.103 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RPGRIP1L-T1143S | het unknown | 0.086 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RPGRIP1L-G1025S | het unknown | 0.171 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CES5A-E261K | het unknown | 0.093 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CES5A-A132T | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.882 (probably damaging) |
| 0.5 | CES5A-A128E | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.932 (probably damaging) |
| 0.5 | CES5A-P75L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | AP1G2-R760H | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.996 (probably damaging) |
| 0.5 | TPTE-L470P | homozygous | 0.997 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TPTE-K386E | homozygous | 0.997 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TPTE-R229* | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | TPTE-R195Q | het unknown | 0.346 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 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 | CCDC116-E264K | het unknown | 0.013 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging) |
| 0.5 | CCDC116-A436T | het unknown | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.023 (benign) |
| 0.5 | CCDC116-C519R | het unknown | 0.306 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CCDC116-A535T | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 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 | ABCC8-A1369S | homozygous | 0.755 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TH-V108M | homozygous | 0.416 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TRIOBP-S217N | het unknown | 0.413 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests |
| 0.5 | TRIOBP-Q398Del | het unknown | 0.308 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TRIOBP-R409Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | TRIOBP-T715I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | TRIOBP-N863K | het unknown | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests |
| 0.5 | TRIOBP-F1187L | het unknown | 0.320 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests |
| 0.5 | 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-E1372D | het unknown | 0.237 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.293 (possibly damaging), 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 | 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 | COL6A2-S399N | homozygous | 0.727 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | 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-T1381A | homozygous | 0.754 | 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-V471I | het unknown | 0.109 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CBR3-V244M | homozygous | 0.398 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.014 (benign) |
| 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 | TRIM29-Y544C | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.977 (probably damaging) |
| 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 | 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 | UBASH3A-S18G | het unknown | 0.541 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | UBASH3A-L28F | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.949 (probably damaging) |
| 0.5 | ASMTL-*622Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | ASMTL-R541K | het unknown | 0.327 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.048 (benign) |
| 0.5 | ASMTL-G434S | het unknown | 0.153 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 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 | PDE6C-S270T | homozygous | 0.419 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HTR2C-C23S | het unknown | 0.191 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.004 (benign) |
| 0.5 | BMPR1A-P2T | homozygous | 0.549 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PPIF-P137L | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.929 (probably damaging) |
| 0.5 | PCDH15-AP1770Del | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | PCDH15-D440A | homozygous | 0.343 | 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-V1672I | het unknown | 0.133 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-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 | ARHGAP19-Q305R | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.996 (probably damaging) |
| 0.5 | ATP7A-V767L | het unknown | 0.332 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ATP7A-E1350K | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DMD-R2937Q | het unknown | 0.899 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DMD-K2366Q | het unknown | 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-Q1829E | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | DMD-R1745H | homozygous | 0.387 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DMD-D882G | homozygous | 0.727 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TACC2-W1103R | homozygous | 0.964 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 0.5 | TACC2-V2197A | het unknown | 0.390 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TACC2-A2210V | het unknown | 0.108 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | TACC2-L2261H | het unknown | 0.108 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.889 (probably damaging) |
| 0.5 | TACC2-A2732T | het unknown | 0.238 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TACC2-D2746N | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
| 0.5 | HABP2-T50M | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | FGD1-A37V | het unknown | 0.030 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ABCC2-Y39F | homozygous | 0.990 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ABCC2-V417I | het unknown | 0.195 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | CALHM1-L86P | homozygous | 1.000 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | SLC16A2-S107P | homozygous | 0.444 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MYO7A-L16S | homozygous | 0.550 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MYO7A-S1666C | het unknown | 0.610 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MYO7A-L1954I | het unknown | 0.552 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | 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-P755L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, 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 | ZNF543-Q107R | het unknown | 0.677 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF543-P226A | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.957 (probably damaging) |
| 0.5 | ZNF543-L246H | het unknown | 0.675 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 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 | HNF1A-I27L | het unknown | 0.311 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HNF1A-S487N | het unknown | 0.301 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HNF1A-S574G | homozygous | 0.976 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | KNTC1-T198A | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.985 (probably damaging) |
| 0.5 | ITGA7-I905V | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | ITGA7-R655H | het unknown | 0.570 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ITGA7-G614R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | PANK2-L111Q | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.26 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | PANK2-G126A | het unknown | 0.917 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GNRH2-A16V | het unknown | 0.229 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.697 (possibly damaging) |
| 0.5 | GNRH2-S116Shift | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | ZNF587-E189A | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.986 (probably damaging) |
| 0.5 | NLRP7-G627R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | NLRP7-V440Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests | |
| 0.5 | NLRP7-V319I | homozygous | 0.306 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | CCDC63-Y303F | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.996 (probably damaging) |
| 0.5 | ZNF480-C3Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | NTSR1-V304I | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.974 (probably damaging) |
| 0.5 | GJB2-E114G | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GJB2-V27I | het unknown | 0.163 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GP6-F606L | het unknown | 0.709 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | GP6-R573G | het unknown | 0.692 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | GP6-P404Shift | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | GP6-K323T | homozygous | 0.806 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | GP6-A249T | het unknown | 0.692 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | GP6-E237K | het unknown | 0.721 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | GP6-P219S | homozygous | 0.823 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.375 | DSC2-I776V | het unknown | 0.223 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | DSC2-R357H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.375 | PLEC-R3676C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.375 | PLEC-A641V | het unknown | 0.210 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | ATXN7-K264R | het unknown | 0.103 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.949 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.375 | ATXN7-A546T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.375 | ATXN7-V862M | het unknown | 0.485 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | RAI1-G90A | het unknown | 0.281 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | RAI1-P165T | het unknown | 0.542 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.375 | RAI1-S873SS | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.375 | COL6A1-A382T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.375 | COL6A1-S890L | het unknown | 0.203 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | DSP-I1164M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.375 | 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 | GAA-H199R | het unknown | 0.574 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | GAA-R223H | het unknown | 0.606 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | GAA-E689K | het unknown | 0.148 | Complex/Other benign | Low clinical importance, uncertain | This is also known as the GAA*4 allozyme is frequent in the Asian population and appears to have somewhat reduced enzyme activity. Kroos et al. rule out pathogenic effect. |
| 0.25 | GAA-V780I | het unknown | 0.720 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL9A2-Q326R | het unknown | 0.403 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | KAL1-V534I | het unknown | 0.543 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | C17orf55-V50L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C17orf55-A49Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | DLL3-L218P | het unknown | 0.650 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CYP4B1-R173W | het unknown | 0.184 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | TPO-A257S | het unknown | 0.387 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | TPO-A373S | het unknown | 0.188 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.25 | TPO-S398T | het unknown | 0.684 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.988 (probably damaging), Testable gene in GeneTests |
| 0.25 | TPO-T725P | het unknown | 0.524 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | TPO-V847A | het unknown | 0.674 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.25 | ATG16L1-T300A | het unknown | 0.347 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.25 | AHCTF1-R1773Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | AHCTF1-N874S | het unknown | 0.722 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 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 | SCAP-V798I | het unknown | 0.289 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SCAP-C147Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | IRF6-V274I | het unknown | 0.172 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.54 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | ZNF155-R34* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | ZNF155-I157F | homozygous | 0.946 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ZNF155-R251H | homozygous | 0.901 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ATRX-Q929E | het unknown | 0.565 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ZNF530-T64A | het unknown | 0.344 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.827 (possibly damaging) |
| 0.25 | ZNF530-H110Q | homozygous | 0.727 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ZNF530-T169M | het unknown | 0.071 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.996 (probably damaging) |
| 0.25 | ZNF530-R208* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | UNC13D-K867E | het unknown | 0.596 | 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 | 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 | 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 | 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 | ZNF607-V191Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | ZNF607-S2A | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | DL492456-R148H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | DL492456-Y109C | homozygous | 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 | MYH7B-G796Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | MYH7B-K1007E | homozygous | 0.995 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SLC19A1-H27R | het unknown | 0.447 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.002 (benign) |
| 0.25 | TDRD5-R126S | het unknown | 0.285 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.998 (probably damaging) |
| 0.25 | TDRD5-S858Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 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 | 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 | MCEE-R104L | het unknown | 0.194 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | SPTA1-I2265T | homozygous | 0.512 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SPTA1-L1858V | homozygous | 0.206 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SPTA1-M1656Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | SPTA1-C1568R | homozygous | 0.621 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SPTA1-S1163A | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | KCNE1-S38G | het unknown | 0.710 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | SLC7A9-V277M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | SLC7A9-L223M | het unknown | 0.265 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.006 (benign), Testable gene in GeneTests |
| 0.25 | SLC7A9-V142A | het unknown | 0.306 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | EIF2AK3-S136C | homozygous | 0.285 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | EIF2AK3-LL20Del | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | EIF2AK3-LL20Del | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | RPTN-Q594Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | RPTN-P526T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | RPTN-F521S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | RPTN-S161P | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.743 (possibly damaging) | |
| 0.25 | UMODL1-V173I | het unknown | 0.121 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.914 (probably damaging) |
| 0.25 | UMODL1-M559T | homozygous | 0.746 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.25 | UMODL1-R691G | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | UMODL1-T741P | het unknown | 0.371 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | UMODL1-I767T | homozygous | 0.734 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | UMODL1-T826P | het unknown | 0.196 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | UMODL1-Q1131Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | UMODL1-D1336N | het unknown | 0.359 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PCNT-G704E | homozygous | 0.855 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | PCNT-V1038A | homozygous | 0.847 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | PCNT-T2305M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | PCNT-Q2659H | het unknown | 0.572 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.849 (possibly damaging), Testable gene in GeneTests |
| 0.25 | PCNT-Q2792R | het unknown | 0.732 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.006 (benign), Testable gene in GeneTests |
| 0.25 | PCNT-R3245S | het unknown | 0.273 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.657 (possibly damaging), Testable gene in GeneTests |
| 0.25 | TLR5-F822L | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | TLR5-N592S | het unknown | 0.211 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.25 | CASP10-L522I | het unknown | 0.309 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | EPCAM-M115T | homozygous | 0.726 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | EPCAM-T172M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | EP300-I997V | het unknown | 0.176 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TYMP-S471L | het unknown | 0.565 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | CPS1-T344A | het unknown | 0.583 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | FAM69C-Q405R | het unknown | 0.356 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FAM69C-E88K | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FAM69C-C20* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | ZNF77-R284* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | ZNF77-I5V | het unknown | 0.195 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ZNF77-C3S | het unknown | 0.221 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MYH9-I1626V | het unknown | 0.289 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CLCC1-S493L | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.25 | CLCC1-Y46Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | DEFB119-P45Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | DEFB119-E43K | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | MUC16-V14466L | homozygous | 0.888 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MUC16-L14002F | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | MUC16-Q13957K | het unknown | 0.427 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MUC16-S13577N | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | MUC16-M13472T | het unknown | 0.573 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MUC16-R13342H | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | MUC16-R13341H | het unknown | 0.590 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MUC16-L13334M | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | MUC16-T13332I | het unknown | 0.285 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MUC16-V12699I | het unknown | 0.011 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | MUC16-TA12693KP | het unknown | 0.026 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | MUC16-E12290K | het unknown | 0.355 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MUC16-T12140M | het unknown | 0.238 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MUC16-V11097M | homozygous | 0.468 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MUC16-S10912R | het unknown | 0.207 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MUC16-T10155I | het unknown | 0.244 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MUC16-L10013P | homozygous | 0.931 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MUC16-I9920T | homozygous | 0.848 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MUC16-V9909I | het unknown | 0.392 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MUC16-H9513Q | homozygous | 0.410 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MUC16-A9502T | het unknown | 0.483 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MUC16-K9429N | het unknown | 0.191 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MUC16-G9380D | het unknown | 0.157 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MUC16-I9213T | homozygous | 0.846 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MUC16-V8969M | het unknown | 0.378 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MUC16-D8344A | het unknown | 0.583 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MUC16-N8301T | homozygous | 0.873 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MUC16-D7923A | het unknown | 0.184 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MUC16-S7415G | het unknown | 0.189 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MUC16-I7272V | het unknown | 0.200 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MUC16-T7063A | het unknown | 0.354 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MUC16-V6306M | het unknown | 0.190 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MUC16-I5751T | homozygous | 0.938 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MUC16-H5741D | homozygous | 0.826 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MUC16-P5537S | homozygous | 0.805 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MUC16-N5228I | homozygous | 0.796 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MUC16-S5045P | het unknown | 0.215 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MUC16-I4902V | het unknown | 0.184 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MUC16-H4166N | het unknown | 0.227 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MUC16-T4077S | het unknown | 0.248 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MUC16-I4034F | het unknown | 0.425 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MUC16-E3961K | het unknown | 0.169 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MUC16-G3826E | het unknown | 0.239 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MUC16-T3788I | het unknown | 0.238 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MUC16-T3723M | het unknown | 0.248 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MUC16-R3573H | het unknown | 0.239 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MUC16-V3530I | het unknown | 0.240 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MUC16-K3506T | het unknown | 0.247 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MUC16-R3499M | het unknown | 0.239 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MUC16-R3417Q | het unknown | 0.134 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MUC16-S3337L | het unknown | 0.239 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MUC16-S3215G | het unknown | 0.240 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MUC16-S3190T | homozygous | 0.677 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MUC16-A3101S | het unknown | 0.213 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MUC16-K1400N | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MUC16-K1266N | het unknown | 0.815 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MUC16-S652SQS | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | MUC16-V651Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 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 | ABCB11-V444A | het unknown | 0.606 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | HPS4-Q620H | het unknown | 0.806 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | HPS4-H601Y | het unknown | 0.807 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | HPS4-V547M | het unknown | 0.780 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | HPS4-E224G | het unknown | 0.779 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | PRSS53-G425Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | PRSS53-Q30R | homozygous | 0.322 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.676 (possibly damaging) |
| 0.25 | RSPH4A-L589P | het unknown | 0.707 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SLCO1B1-N130D | het unknown | 0.663 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | COL2A1-G1405S | het unknown | 0.187 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL2A1-T9S | het unknown | 0.598 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | 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 |
| 0.25 | KRT6C-R182Q | het unknown | 0.281 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.805 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | PAX4-H321P | homozygous | 0.653 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | PAX4-R192S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | NR_024420-R187H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | NR_024420-V148A | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | NR_024420-A147V | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | NR_024420-G90S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | NR_024420-Q68Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 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 | SNX19-L878R | het unknown | 0.808 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | SNX19-N753S | het unknown | 0.617 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SNX19-L618F | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SNX19-V361L | het unknown | 0.671 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | NOS3-D298E | het unknown | 0.844 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | C7orf29-E202G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C7orf29-W223Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | ERV3-N566S | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | ERV3-N478S | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | ERV3-R220* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | ERV3-C189Y | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | ERV3-T87I | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | AVIL-K204E | homozygous | 0.997 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | AVIL-R94* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | CENPJ-M21V | het unknown | 0.154 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | FNDC1-S36P | homozygous | 0.321 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FNDC1-T438A | homozygous | 0.540 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FNDC1-E463Q | het unknown | 0.734 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.25 (possibly damaging) |
| 0.25 | FNDC1-A1001Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | FNDC1-Q1003E | het unknown | 0.735 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.25 (possibly damaging) |
| 0.25 | FNDC1-D1180E | het unknown | 0.776 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.47 (possibly damaging) |
| 0.25 | FNDC1-L1261P | het unknown | 0.618 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.38 (possibly damaging) |
| 0.25 | FNDC1-Q1280R | het unknown | 0.770 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.25 (possibly damaging) |
| 0.25 | FNDC1-TRRTTT1479Del | het unknown | 0.773 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FNDC1-T1504K | het unknown | 0.772 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FNDC1-T1574A | het unknown | 0.172 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.98 (probably damaging) |
| 0.25 | CCDC66-D5Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | CCDC66-Q383R | homozygous | 0.934 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CCDC66-E592Q | het unknown | 0.276 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.082 (benign) |
| 0.25 | CCDC66-S606SS | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | CCDC66-S606SP | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 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-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-V3805I | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C13orf40-M3495I | 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-Q1887P | het unknown | 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-C1275* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 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 | PARK2-S167N | het unknown | 0.143 | 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 | MMAB-M239K | het unknown | 0.469 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MMAB-R19Q | het unknown | 0.283 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ATXN2-S248N | het unknown | 0.248 | 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 | het unknown | 0.304 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.019 (benign) |
| 0.25 | NPSR1-Q344R | het unknown | 0.309 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ZNF853-G8R | het unknown | 0.705 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ZNF853-Q30R | het unknown | 0.736 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ZNF853-E380Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | GARS-P42A | het unknown | 0.654 | 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 | CHRNA2-T125A | het unknown | 0.644 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CHRNA2-T22I | het unknown | 0.256 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MUSK-S159G | het unknown | 0.134 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | MUSK-M413I | het unknown | 0.134 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | FKTN-R203Q | het unknown | 0.177 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.166 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | GPR123-G55S | homozygous | 0.656 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | GPR123-R60G | homozygous | 0.653 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | GPR123-A218P | homozygous | 0.585 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | GPR123-G496Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | GPR123-R539G | homozygous | 0.600 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MUC5AC-V186Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | MUC5AC-V497A | homozygous | 0.977 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MUC5AC-E660G | homozygous | 0.316 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MUC5AC-R677W | homozygous | 0.196 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MUC5AC-F3655S | homozygous | 0.701 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MUC5AC-M3705T | homozygous | 0.056 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MUC5AC-T4291I | homozygous | 0.100 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MUC5AC-V4437I | homozygous | 0.318 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CDK5RAP2-V1540L | het unknown | 0.714 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CDK5RAP2-E289Q | het unknown | 0.801 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL17A1-M703V | het unknown | 0.672 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL17A1-G428S | het unknown | 0.771 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL17A1-T210M | het unknown | 0.557 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | 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 | HPS1-P491R | het unknown | 0.156 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.983 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | C10orf26-S323P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C10orf26-H333Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | C10orf26-A341S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | TTF1-G360V | het unknown | 0.110 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.988 (probably damaging), Testable gene in GeneTests |
| 0.25 | TTF1-A290S | het unknown | 0.177 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | H19-G355R | het unknown | 0.359 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | H19-V94I | het unknown | 0.361 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | H19-W38R | het unknown | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TRPM6-K1584E | het unknown | 0.274 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.854 (probably damaging), Testable gene in GeneTests |
| 0.25 | TRPM6-V1393I | het unknown | 0.160 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.013 (benign), Testable gene in GeneTests |
| 0.25 | ALG8-N222S | het unknown | 0.120 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | ADAM3A-G372S | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | ADAM3A-R356W | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | ADAM3A-L329Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | ADAM3A-R215G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | MTMR2-K3T | het unknown | 0.216 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ESCO2-A80V | het unknown | 0.147 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MS4A2-E237G | het unknown | 0.154 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.983 (probably damaging) |
| 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 | GLIS3-S893F | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | GLIS3-P456Q | homozygous | 0.686 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | GLIS3-S424P | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | DOCK8-A22V | het unknown | 0.291 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.009 (benign), Testable gene in GeneTests |
| 0.25 | DOCK8-P97T | het unknown | 0.512 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests |
| 0.25 | SBF2-Q1216E | het unknown | 0.118 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.03 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | 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 | 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 | 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 | AP3B1-V585E | het unknown | 0.806 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | CES2-T58A | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | CES2-E59Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | NFAT5-L771S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | NFAT5-Q773Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | ABCG2-V12M | het unknown | 0.122 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | GCSH-S21L | het unknown | 0.750 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | AK298931-E88Q | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | AK298931-W38* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | AK298931-T4S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | ADAM29-P627S | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.462 (possibly damaging) |
| 0.25 | ADAM29-L790V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | ADAM29-Q803* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | ADAM29-R804S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | MYH11-A1241T | het unknown | 0.223 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | FIG4-M364L | het unknown | 0.101 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.011 (benign), 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 | IL4R-E400A | het unknown | 0.270 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.578 (possibly damaging) |
| 0.25 | IL4R-C431R | het unknown | 0.085 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.999 (probably damaging) |
| 0.25 | IL4R-S503P | het unknown | 0.244 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.743 (possibly damaging) |
| 0.25 | IL4R-Q576R | het unknown | 0.405 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.25 | UGT2B15-K523T | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | UGT2B15-Y85D | het unknown | 0.500 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | UCHL1-S18Y | het unknown | 0.111 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.029 (benign) |
| 0.25 | KRT10-G565GGYGGGSSSGG | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | KRT10-I101S | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | JUP-M697L | het unknown | 0.520 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | DRD3-G9S | het unknown | 0.482 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | ITGA2B-I874S | homozygous | 0.255 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | ITGA2B-I467M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | LRRC48-R191W | homozygous | 0.578 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | LRRC48-R444Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | MYH3-A1759AKKA | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | MYH3-A1192T | het unknown | 0.544 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | MINK1-V771A | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | MINK1-P775L | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | MINK1-V863I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | MINK1-L1071Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | NLRP1-M1184V | het unknown | 0.433 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | NLRP1-V1059M | het unknown | 0.165 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.006 (benign) |
| 0.25 | NLRP1-L155H | het unknown | 0.120 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.064 (benign) |
| 0.25 | 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 | HTT-Y2309H | het unknown | 0.459 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MPDU1-A229T | het unknown | 0.188 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | NIPBL-N674S | het unknown | 0.129 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.028 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | ATXN3-V212M | het unknown | 0.358 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TREML4-W73R | homozygous | 0.655 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.786 (possibly damaging) |
| 0.25 | TREML4-W108* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | TREML4-T135M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | TREML4-T168I | homozygous | 0.656 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.25 | KIF6-W719R | het unknown | 0.538 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.01 (benign) |
| 0.25 | KIF6-R512H | het unknown | 0.090 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 0.25 | NR_024334-R85Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | NR_024334-E64K | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | NR_004845-E208Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | NR_004845-Y206S | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | RSPH9-V261I | het unknown | 0.122 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | GPR111-L256M | homozygous | 0.495 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | GPR111-R522* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | AKD1-V1555I | het unknown | 0.392 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | AKD1-D739V | het unknown | 0.222 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | AKD1-L656Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | IRS2-G1057D | het unknown | 0.232 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.024 (benign) |
| 0.25 | COL9A1-Q621R | het unknown | 0.335 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL9A1-S339P | het unknown | 0.507 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | RPGRIP1-K192E | het unknown | 0.446 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | 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 | LMBRD1-D469E | het unknown | 0.393 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | C14orf184-E123Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | C14orf184-R55T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | HSPA1L-T493M | het unknown | 0.868 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign) |
| 0.25 | CEP152-S793I | het unknown | 0.115 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MYOT-K74Q | homozygous | 0.986 | Recessive benign | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MYOT-A115S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.25 | NR_027127-P64L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | NR_027127-W61* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | VCAN-G428D | het unknown | 0.215 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.923 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | GATM-Q110H | het unknown | 0.651 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TTBK2-L8P | het unknown | 0.560 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | DUOX2-L1160Del | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | DUOX2-S1067L | homozygous | 0.662 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | DUOX2-P138L | homozygous | 0.926 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SPG11-F463S | het unknown | 0.470 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SERPINA1-E400D | het unknown | 0.220 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | SERPINA1-R125H | het unknown | 0.140 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0 | H6PD-R453Q | het unknown | 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). |
| 0 | PEX1-I696M | het unknown | 0.016 | Recessive pathogenic | High clinical importance, uncertain | Reported as a mutation causing peroxisome biogenesis disorder in a single patient, presumably in a recessive manner. |
| 0 | BAG3-G540Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 0 | MBL2-G54D | het unknown | 0.102 | Recessive pathogenic | Low clinical importance, likely | This variant is associated with mannose binding protein deficiency which leads to impaired complement system immune response to mannose-rich pathogens. Patients homozygous for this allele or compound heterozygous are likely to have increased susceptibility to infection, but Hellemann et al. report heterosis for intensive care outcomes in heterozygous subjects. The wild-type version of this gene is known as variant allele A, while this is called variant allele B. See R52C (variant D) and G57E (variant C). |
Input file format: CGIVAR
Genome build: b37
Genome coverage: 2,739,829,794 bases (96.7% of callable positions, 90.6% of total positions)
Coding region coverage: 32,858,485 bases (98.9% of all genes, 99.4% of genes with clinical testing available)
Chromosomes: chr1, chr10, chr11, chr12, chr13, chr14, chr15, chr16, chr17, chr18, chr19, chr2, chr20, chr21, chr22, chr3, chr4, chr5, chr6, chr7, chr8, chr9, chrM, chrX