Variant report for hu92FD55
- Data source: CGI sample GS01669-DNA_A04 from PGP sample 08188426
- This report: evidence.pgp-hms.org/genomes?d916980d4acfddf12d7e07540775c112c91342a2
- Person ID: hu92FD55
- public profile: my.pgp-hms.org/profile/hu92FD55
- Download: source data, dbSNP and nsSNP report (117 MB)
- Processing status: processing
- Show debugging info
Log file:
| Row number | Variant | Clinical Importance | Evidence | Impact | Allele freq | Summary | Sufficient |
|---|---|---|---|---|---|---|---|
| 1 | GJB2-V37I | Moderate | Likely | Likely pathogenic Recessive, Carrier (Heterozygous) | 0.00148726 | This recessive variant is associated with mild hearing loss in Asians. | 1 |
| 2 | 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 |
| 3 | MTRR-I49M | Low | Likely | Likely pathogenic Recessive, Homozygous | 0.451199 | This common variant (HapMap allele frequency of 31.3%) in a protein involved in folate (B9) and cobalamin (B12) metabolism and is often reported as "MTRR I22M" (an alternative transcript position). Mothers homozygous for this variant are associated with having around a increased chance of a child with Down syndrome (risk of 0.4%, average risk in population is 0.25%). Notably, age plays a far larger role in the rate of Down syndrome (risk is 4.5% for a mother 45-years-of-age), and it is unknown how this variant may combine with the effect of age. There are conflicting reports associating this variant with incidence of neural tube defects, possibly when combined with MTHFR A222V. | 1 |
| 4 | H6PD-R453Q | Low | Uncertain | Uncertain pathogenic Recessive, Homozygous | 0.308886 | This common variant may have a small pathogenic effect by contributing to cortisone reductase deficiency (a rare abnormality) when homozygous and combined with a serious pathogenic variant. The same authors have tested and ruled out a contribution to polycystic ovary syndrome (similar phenotype, more common disease). | 1 |
| 5 | WFS1-R611H | Low | Uncertain | Uncertain not reviewed Recessive, Homozygous | 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 |
| 6 | RNASEL-R462Q | Low | Uncertain | Uncertain pathogenic Complex/Other, Heterozygous | 0.278026 | Associated with increased risk of prostate cancer in individuals who already have a family history of prostate cancer, but studies have been unable to replicate this finding in sporadic (non-familial) prostate cancer cases. | 1 |
| 7 | 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 |
| 8 | TP53-P72R | Low | Uncertain | Uncertain pathogenic Unknown, Heterozygous | 0.627743 | This is a common variant was first reported as a polymorphism. It has since had mixed associations with cancer: Storey et al. conclude a 7x *increased* risk of HPV cancer for homozygotes vs hets, but Jones et al. find a 1.98x *decreased* risk for colorectal cancer. This variant may have significant impact on particular cancers, but it is unclear what effect it has on the overall burden of cancer. | 1 |
| 9 | 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 |
| 10 | 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 |
| 11 | OCA2-H615R | Low | Likely | Likely benign Complex/Other, Homozygous | 0.000650678 | Associated with lighter skin pigmentation in East Asian populations. | 1 |
| 12 | 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 |
| 13 | LOXL1-R141L | Low | Uncertain | Uncertain benign Complex/Other, Homozygous | 0.255899 | Associated with exfoliative glaucoma & syndrome (XFG & XFS) in various populations, but with contradicting results (protective in Caucasians, pathogenic in Japanese). Based on this it seems the variation itself -- although it affects protein structure -- is not itself causing disease. Instead it is likely associated with other nearby causal variants. As such, it is evaluated as benign by GET-Evidence (which focuses on reporting causal variants). See detailed variant report for disease risk associations. | 1 |
| 14 | 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 |
| 15 | XPC-L16V | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.00466531 | Reported as a nonpathogenic polymorphism. | 1 |
| 16 | APOB-Y1422C | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.999628 | This position is almost certainly an error in the HG18 reference sequence. | 1 |
| 17 | VWF-G2705R | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0460123 | Probably benign, seems to be considered an uncommon polymorphism. | 1 |
| 18 | ERCC6-R1230P | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0695297 | Probably benign. | 1 |
| 19 | 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 |
| 20 | PCSK9-G670E | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.888269 | This variant is likely benign. | 1 |
| 21 | PTCH1-P1315L | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.29631 | Common polymorphism, presumed benign. | 1 |
| 22 | 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 |
| 23 | FLG-R3530S | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.108849 | Tentatively classified as benign, although predicted by Polyphen 2 to be damaging. Other more severe null mutations (frameshift and nonsense) in this gene are reported to cause ichthyosis vulgaris in a recessive manner. | 1 |
| Row number | Variant | Prioritization score | Allele freq | Num of articles | Zygosity and Prioritization Score Reasons | Sufficient |
|---|
Exome coverage: 32953539 / 33282720 = 99.01%
| Row number | Gene | Chromosome | Coverage | Missing | Length | Missing regions |
|---|---|---|---|---|---|---|
| 1 | AGRN | 1 | 0.96057347670251 | 242 | 6138 | 955553-955637, 955648-955654, 955657, 955749-955753, 976232-976234, 976237-976241, 983612-983745, 986833-986834 |
| 2 | GABRD | 1 | 0.97056659308315 | 40 | 1359 | 1950863-1950895, 1950910, 1950916-1950919, 1950923, 1950926 |
| 3 | ESPN | 1 | 0.88304093567251 | 300 | 2565 | 6488319-6488336, 6488378-6488392, 6500686-6500715, 6500776-6500791, 6500864-6500868, 6501059-6501065, 6501097-6501103, 6505776-6505820, 6505849-6505856, 6505872-6505920, 6508701-6508705, 6508760-6508766, 6508828-6508857, 6508882-6508888, 6508922-6508928, 6512127-6512133, 6517286-6517322 |
| 4 | PLEKHG5 | 1 | 0.97961743493258 | 65 | 3189 | 6529183-6529185, 6534096-6534109, 6534150-6534159, 6534511-6534547, 6557383 |
| 5 | KIF1B | 1 | 0.99962356484096 | 2 | 5313 | 10425584-10425585 |
| 6 | PEX14 | 1 | 0.99823633156966 | 2 | 1134 | 10684448-10684449 |
| 7 | TARDBP | 1 | 0.99437751004016 | 7 | 1245 | 11082356-11082362 |
| 8 | PLOD1 | 1 | 0.99679487179487 | 7 | 2184 | 12009861-12009867 |
| 9 | CLCNKA | 1 | 0.98982558139535 | 21 | 2064 | 16349191-16349197, 16354391-16354397, 16360141-16360147 |
| 10 | CLCNKB | 1 | 0.99321705426357 | 14 | 2064 | 16373044-16373050, 16383399-16383405 |
| 11 | ATP13A2 | 1 | 0.99802427321479 | 7 | 3543 | 17322611-17322617 |
| 12 | HSPG2 | 1 | 0.99521857923497 | 63 | 13176 | 22263648-22263710 |
| 13 | WNT4 | 1 | 0.92518939393939 | 79 | 1056 | 22447971-22447972, 22469339-22469415 |
| 14 | SEPN1 | 1 | 0.89028776978417 | 183 | 1668 | 26126722-26126904 |
| 15 | SLC2A1 | 1 | 0.99526707234618 | 7 | 1479 | 43395421-43395427 |
| 16 | MPL | 1 | 0.99947589098532 | 1 | 1908 | 43805648 |
| 17 | DHCR24 | 1 | 0.99742101869761 | 4 | 1551 | 55352596, 55352599-55352601 |
| 18 | ALG6 | 1 | 0.99803921568627 | 3 | 1530 | 63877623-63877625 |
| 19 | LEPR | 1 | 0.99799885648942 | 7 | 3498 | 66083690-66083696 |
| 20 | RPL5 | 1 | 0.99888143176734 | 1 | 894 | 93307396 |
| 21 | DPYD | 1 | 0.99805068226121 | 6 | 3078 | 97847996, 98144713-98144717 |
| 22 | AGL | 1 | 0.99956512285279 | 2 | 4599 | 100336348, 100378008 |
| 23 | COL11A1 | 1 | 0.96811434854316 | 174 | 5457 | 103364222-103364329, 103364497-103364498, 103364539-103364544, 103427744-103427748, 103427757-103427785, 103435796, 103435802-103435803, 103435826-103435828, 103463873, 103471829, 103471840-103471849, 103471859-103471864 |
| 24 | GSTM1 | 1 | 0.58599695585997 | 272 | 657 | 110230506-110230507, 110230511, 110230522-110230531, 110230792-110230793, 110230807-110230813, 110230839, 110230841, 110230854, 110230858-110230859, 110231295-110231297, 110231302, 110231691, 110231714, 110231724-110231726, 110231857, 110231862, 110231890-110231947, 110232901-110232988, 110233076-110233163 |
| 25 | CASQ2 | 1 | 0.96583333333333 | 41 | 1200 | 116243999-116244039 |
| 26 | NOTCH2 | 1 | 0.97559331175836 | 181 | 7416 | 120539665-120539714, 120539739-120539745, 120539778-120539784, 120539913-120539939, 120547962-120547968, 120548022-120548058, 120548091-120548097, 120572544-120572575, 120572609-120572610, 120611960, 120611964, 120612003-120612004, 120612006 |
| 27 | PRPF3 | 1 | 0.99853801169591 | 3 | 2052 | 150316972-150316974 |
| 28 | FLG | 1 | 0.93402264894141 | 804 | 12186 | 152276279-152276306, 152276365-152276389, 152276441-152276447, 152276459-152276493, 152276583, 152276598, 152276616, 152276626-152276628, 152276668-152276674, 152276696-152276721, 152277011-152277058, 152277081-152277088, 152277566-152277572, 152277717, 152277875-152277887, 152278013-152278052, 152278083-152278096, 152278303-152278309, 152278410-152278437, 152278501-152278507, 152278555, 152278689, 152278853-152278879, 152279016-152279022, 152279055-152279068, 152279210, 152279382-152279410, 152279473-152279479, 152279524-152279530, 152279729, 152279743, 152279848, 152280347, 152280468-152280507, 152280556-152280562, 152280570-152280617, 152280643-152280649, 152280682-152280694, 152280733-152280762, 152280782, 152280788, 152280864, 152280900, 152281039, 152281225-152281231, 152281287-152281307, 152281479, 152281520-152281537, 152281621-152281649, 152281854-152281860, 152281872-152281904, 152283427-152283473, 152284149-152284155, 152284421-152284453, 152284546-152284552, 152285134-152285140, 152285185-152285215, 152286002 |
| 29 | GBA | 1 | 0.99503414028554 | 8 | 1611 | 155208002-155208009 |
| 30 | SEMA4A | 1 | 0.99868766404199 | 3 | 2286 | 156146293-156146295 |
| 31 | KCNJ10 | 1 | 0.99912280701754 | 1 | 1140 | 160012048 |
| 32 | TBX19 | 1 | 0.98144023756496 | 25 | 1347 | 168274313-168274337 |
| 33 | F5 | 1 | 0.99700374531835 | 20 | 6675 | 169510325-169510343, 169510475 |
| 34 | LAMC2 | 1 | 0.99860413176996 | 5 | 3582 | 183212402-183212406 |
| 35 | HMCN1 | 1 | 0.99994085639934 | 1 | 16908 | 186052052 |
| 36 | PDC | 1 | 0.99865047233468 | 1 | 741 | 186418586 |
| 37 | CFH | 1 | 0.9702380952381 | 110 | 3696 | 196658661, 196658680, 196658723-196658735, 196658744, 196682969-196683010, 196706650, 196706761, 196715005-196715011, 196716353-196716395 |
| 38 | CFHR1 | 1 | 0.99194360523666 | 8 | 993 | 196797244, 196797354-196797360 |
| 39 | CFHR5 | 1 | 0.98947368421053 | 18 | 1710 | 196953091-196953093, 196953102-196953104, 196953108, 196953131-196953133, 196953151, 196953154-196953156, 196953159-196953161, 196967307 |
| 40 | ASPM | 1 | 0.99932911635039 | 7 | 10434 | 197097666, 197101473-197101475, 197113087-197113088, 197113225 |
| 41 | CD46 | 1 | 0.9875 | 15 | 1200 | 207930359-207930368, 207956667-207956670, 207956673 |
| 42 | USH2A | 1 | 0.99474662053943 | 82 | 15609 | 215916519-215916599, 216496871 |
| 43 | GJC2 | 1 | 0.98409090909091 | 21 | 1320 | 228345920, 228346065-228346067, 228346070-228346075, 228346086-228346088, 228346097, 228346099-228346100, 228346135, 228346138, 228346399, 228346402, 228346427 |
| 44 | LYST | 1 | 0.99018060669823 | 112 | 11406 | 235840830-235840837, 235840919, 235875396-235875439, 235875462, 235894363-235894370, 235896852, 235897875-235897876, 235907304, 235944221-235944227, 235944325-235944326, 235950530-235950563, 235969552-235969554 |
| 45 | ACTN2 | 1 | 0.99702048417132 | 8 | 2685 | 236883476-236883483 |
| 46 | MTR | 1 | 0.99921011058452 | 3 | 3798 | 237060942-237060944 |
| 47 | RYR2 | 1 | 0.99785292538916 | 32 | 14904 | 237798273, 237821244-237821271, 237821286, 237821304, 237821312 |
| 48 | FH | 1 | 0.99151989562948 | 13 | 1533 | 241663850-241663862 |
| 49 | GATA3 | 10 | 0.99925093632959 | 1 | 1335 | 8100744 |
| 50 | OPTN | 10 | 0.99077277970012 | 16 | 1734 | 13151201-13151216 |
| 51 | DCLRE1C | 10 | 0.98941798941799 | 22 | 2079 | 14981847-14981868 |
| 52 | CUBN | 10 | 0.99871228844739 | 14 | 10872 | 17061926-17061938, 17142072 |
| 53 | MYO3A | 10 | 0.99505256648114 | 24 | 4851 | 26241184-26241207 |
| 54 | PDSS1 | 10 | 0.96714743589744 | 41 | 1248 | 26994235-26994275 |
| 55 | RET | 10 | 0.98654708520179 | 45 | 3345 | 43572724-43572768 |
| 56 | ERCC6 | 10 | 0.99910754127622 | 4 | 4482 | 50740808-50740810, 50740813 |
| 57 | CHAT | 10 | 0.93368936359591 | 149 | 2247 | 50822275-50822416, 50822422, 50857604-50857609 |
| 58 | PCDH15 | 10 | 0.99898115129903 | 6 | 5889 | 56138650-56138653, 56138666, 56138679 |
| 59 | VCL | 10 | 0.99970631424376 | 1 | 3405 | 75874621 |
| 60 | BMPR1A | 10 | 0.99937460913071 | 1 | 1599 | 88683146 |
| 61 | GLUD1 | 10 | 0.99582587954681 | 7 | 1677 | 88836362-88836368 |
| 62 | ANKRD1 | 10 | 0.98229166666667 | 17 | 960 | 92680054-92680070 |
| 63 | FBXW4 | 10 | 0.99838579499596 | 2 | 1239 | 103436141-103436142 |
| 64 | SHOC2 | 10 | 0.99142367066895 | 15 | 1749 | 112724746-112724758, 112769098-112769099 |
| 65 | HTRA1 | 10 | 0.96257796257796 | 54 | 1443 | 124221169-124221218, 124221224-124221227 |
| 66 | UROS | 10 | 0.99498746867168 | 4 | 798 | 127500828-127500831 |
| 67 | SLC25A22 | 11 | 0.99897119341564 | 1 | 972 | 792637 |
| 68 | PNPLA2 | 11 | 0.99009900990099 | 15 | 1515 | 819719-819733 |
| 69 | CTSD | 11 | 0.99435028248588 | 7 | 1239 | 1780313-1780317, 1785076, 1785080 |
| 70 | KCNQ1 | 11 | 0.99950763170852 | 1 | 2031 | 2466334 |
| 71 | CDKN1C | 11 | 0.90641430073607 | 89 | 951 | 2905938-2905945, 2905957-2905977, 2906071-2906076, 2906079-2906110, 2906133-2906143, 2906147-2906148, 2906153-2906154, 2906165, 2906190, 2906401-2906403, 2906414, 2906417 |
| 72 | HBD | 11 | 0.98423423423423 | 7 | 444 | 5255652-5255658 |
| 73 | SBF2 | 11 | 0.99981981981982 | 1 | 5550 | 10013987 |
| 74 | ABCC8 | 11 | 0.99957859249895 | 2 | 4746 | 17470168-17470169 |
| 75 | USH1C | 11 | 0.99851851851852 | 4 | 2700 | 17531306-17531309 |
| 76 | HPS5 | 11 | 0.99970501474926 | 1 | 3390 | 18309174 |
| 77 | ANO5 | 11 | 0.97228300510576 | 76 | 2742 | 22249049-22249058, 22276998-22277003, 22277006-22277007, 22277009-22277022, 22277024-22277059, 22277061-22277068 |
| 78 | ALX4 | 11 | 0.99352750809061 | 8 | 1236 | 44331176-44331183 |
| 79 | SLC35C1 | 11 | 0.99905303030303 | 1 | 1056 | 45827805 |
| 80 | F2 | 11 | 0.99625468164794 | 7 | 1869 | 46747501-46747507 |
| 81 | SERPING1 | 11 | 0.99866932801065 | 2 | 1503 | 57365778, 57365782 |
| 82 | SLC22A12 | 11 | 0.99458483754513 | 9 | 1662 | 64367266-64367268, 64367271-64367276 |
| 83 | BBS1 | 11 | 0.99607182940516 | 7 | 1782 | 66299430-66299436 |
| 84 | SPTBN2 | 11 | 0.9998605883173 | 1 | 7173 | 66483372 |
| 85 | TCIRG1 | 11 | 0.99799438427597 | 5 | 2493 | 67810266-67810269, 67810275 |
| 86 | LRP5 | 11 | 0.99257425742574 | 36 | 4848 | 68080197-68080201, 68080211-68080240, 68080245 |
| 87 | IGHMBP2 | 11 | 0.9916163648558 | 25 | 2982 | 68704532-68704556 |
| 88 | MYO7A | 11 | 0.9998495788207 | 1 | 6648 | 76922295 |
| 89 | DYNC2H1 | 11 | 0.98091927385091 | 247 | 12945 | 102984295, 102984349, 102984353, 102991493-102991502, 103004375, 103039585-103039589, 103043811-103043823, 103043831-103043902, 103043971, 103047140-103047141, 103052520-103052521, 103052535-103052536, 103052548, 103059230-103059257, 103059286, 103059289-103059305, 103062262-103062287, 103062307-103062348, 103070132, 103082558, 103082636, 103082651, 103082656, 103092866-103092877, 103093708-103093709, 103093714, 103093718 |
| 90 | ATM | 11 | 0.98898702431578 | 101 | 9171 | 108098419, 108114680, 108126983-108127067, 108196117-108196118, 108196135-108196140, 108196143-108196144, 108196215, 108196950-108196952 |
| 91 | DLAT | 11 | 0.99948559670782 | 1 | 1944 | 111909997 |
| 92 | ROBO3 | 11 | 0.99975967315549 | 1 | 4161 | 124748656 |
| 93 | WNK1 | 12 | 0.99986012029654 | 1 | 7149 | 936307 |
| 94 | CACNA1C | 12 | 0.99893308946807 | 7 | 6561 | 2794934-2794940 |
| 95 | VWF | 12 | 0.97583511016347 | 204 | 8442 | 6120875-6120881, 6125338-6125344, 6125718-6125724, 6127532-6127538, 6127637-6127661, 6127782-6127788, 6127878, 6127891, 6127919, 6127943, 6128064-6128096, 6128339-6128345, 6128451, 6128479, 6128544-6128560, 6128630-6128636, 6128784-6128790, 6131925-6131932, 6131955-6131982, 6132003-6132033 |
| 96 | ATN1 | 12 | 0.98880492583263 | 40 | 3573 | 7045605-7045608, 7045892-7045911, 7045919-7045934 |
| 97 | GYS2 | 12 | 0.9749053030303 | 53 | 2112 | 21712025-21712077 |
| 98 | ABCC9 | 12 | 0.99720430107527 | 13 | 4650 | 21962836-21962837, 22005417-22005427 |
| 99 | FGD4 | 12 | 0.98870056497175 | 26 | 2301 | 32786591-32786616 |
| 100 | DNM1L | 12 | 0.99728629579376 | 6 | 2211 | 32866249, 32890854-32890858 |
| 101 | LRRK2 | 12 | 0.99103375527426 | 68 | 7584 | 40645166-40645172, 40697750-40697751, 40761452, 40761481, 40761489-40761497, 40761500, 40761505-40761551 |
| 102 | IRAK4 | 12 | 0.99927693420101 | 1 | 1383 | 44180358 |
| 103 | MLL2 | 12 | 0.99885638618033 | 19 | 16614 | 49420597-49420601, 49427007-49427014, 49427102, 49427257, 49427659-49427660, 49427670, 49427676 |
| 104 | TUBA1A | 12 | 0.89254385964912 | 49 | 456 | 49522235-49522241, 49522308-49522314, 49522574-49522608 |
| 105 | KRT81 | 12 | 0.98550724637681 | 22 | 1518 | 52682999-52683005, 52684899-52684906, 52685160-52685166 |
| 106 | KRT86 | 12 | 0.98357289527721 | 24 | 1461 | 52695754, 52695787, 52696044-52696051, 52697949-52697955, 52699030-52699036 |
| 107 | KRT83 | 12 | 0.99932523616734 | 1 | 1482 | 52710279 |
| 108 | KRT6B | 12 | 0.93628318584071 | 108 | 1695 | 52843304-52843310, 52843578-52843584, 52843632-52843637, 52843796-52843824, 52844352-52844395, 52845432-52845438, 52845571-52845577, 52845801 |
| 109 | KRT6C | 12 | 0.94218289085546 | 98 | 1695 | 52865295-52865300, 52865456-52865484, 52866041-52866043, 52867094, 52867105, 52867186-52867236, 52867457-52867463 |
| 110 | KRT6A | 12 | 0.98230088495575 | 30 | 1695 | 52882219-52882231, 52884735, 52885496-52885497, 52886681-52886687, 52886908-52886914 |
| 111 | KRT5 | 12 | 0.9960518894529 | 7 | 1773 | 52908888-52908890, 52912920-52912923 |
| 112 | KRT1 | 12 | 0.98759689922481 | 24 | 1935 | 53069289-53069295, 53072484, 53072493, 53072500-53072505, 53072509-53072517 |
| 113 | LEMD3 | 12 | 0.99707602339181 | 8 | 2736 | 65632497-65632500, 65632506-65632509 |
| 114 | CEP290 | 12 | 0.98938172043011 | 79 | 7440 | 88462402, 88471647, 88472922, 88472950-88472955, 88472966-88472971, 88490724-88490747, 88505471-88505479, 88505490-88505499, 88513932, 88513946-88513951, 88522723-88522734, 88522770-88522771 |
| 115 | SLC17A8 | 12 | 0.99830508474576 | 3 | 1770 | 100796212-100796213, 100796221 |
| 116 | GNPTAB | 12 | 0.99893927340228 | 4 | 3771 | 102153875-102153878 |
| 117 | ATXN2 | 12 | 0.97184170471842 | 111 | 3942 | 111894016, 111894019, 112036741-112036826, 112036894, 112036911-112036921, 112036924-112036930, 112036949-112036952 |
| 118 | HNF1A | 12 | 0.99367088607595 | 12 | 1896 | 121434149-121434155, 121434366-121434369, 121434378 |
| 119 | PUS1 | 12 | 0.99922118380062 | 1 | 1284 | 132426013 |
| 120 | GJB6 | 13 | 0.99491094147583 | 4 | 786 | 20797350-20797353 |
| 121 | BRCA2 | 13 | 0.99961002242371 | 4 | 10257 | 32918742, 32918750-32918752 |
| 122 | FREM2 | 13 | 0.99884332281809 | 11 | 9510 | 39263225-39263235 |
| 123 | RB1 | 13 | 0.99246501614639 | 21 | 2787 | 48923108, 48934153-48934171, 49039364 |
| 124 | EDNRB | 13 | 0.99322799097065 | 9 | 1329 | 78472347-78472355 |
| 125 | SLITRK1 | 13 | 0.99952175992348 | 1 | 2091 | 84453774 |
| 126 | ZIC2 | 13 | 0.96998123827392 | 48 | 1599 | 100637743, 100637801-100637807, 100637822-100637858, 100637861-100637863 |
| 127 | PCCA | 13 | 0.99908550525834 | 2 | 2187 | 100925514, 100925517 |
| 128 | ERCC5 | 13 | 0.99787685774947 | 9 | 4239 | 103510668-103510674, 103515391-103515392 |
| 129 | PABPN1 | 14 | 0.87730727470141 | 113 | 921 | 23790694-23790701, 23790708-23790717, 23790870-23790872, 23790883-23790897, 23790900, 23790903-23790910, 23790913, 23790929-23790950, 23790953, 23790956-23790961, 23790966-23790969, 23790974-23790978, 23790983-23791009, 23791028-23791029 |
| 130 | FOXG1 | 14 | 0.81224489795918 | 276 | 1470 | 29236674-29236949 |
| 131 | NKX2-1 | 14 | 0.99917081260365 | 1 | 1206 | 36986737 |
| 132 | FANCM | 14 | 0.98356922075809 | 101 | 6147 | 45623938-45623953, 45623973-45624020, 45653090-45653094, 45653105, 45667849-45667855, 45667866-45667876, 45667883-45667886, 45667897-45667904, 45667907 |
| 133 | SYNE2 | 14 | 0.9984076433121 | 33 | 20724 | 64457679-64457684, 64457687, 64457692-64457711, 64494379, 64522849, 64556314, 64556317, 64556353-64556354 |
| 134 | ZFYVE26 | 14 | 0.99868766404199 | 10 | 7620 | 68244313-68244319, 68274225-68274227 |
| 135 | VIPAR | 14 | 0.99392712550607 | 9 | 1482 | 77894724-77894726, 77894729-77894731, 77894754, 77894758, 77894761 |
| 136 | SPATA7 | 14 | 0.99611111111111 | 7 | 1800 | 88859814-88859817, 88883169, 88899550-88899551 |
| 137 | TTC8 | 14 | 0.99935400516796 | 1 | 1548 | 89305844 |
| 138 | ATXN3 | 14 | 0.98710865561694 | 14 | 1086 | 92537350-92537351, 92537361-92537366, 92559604-92559608, 92559659 |
| 139 | VRK1 | 14 | 0.95130142737196 | 58 | 1191 | 97304105-97304154, 97322503-97322510 |
| 140 | AMN | 14 | 0.99118942731278 | 12 | 1362 | 103396607-103396614, 103396617, 103396630, 103396638-103396639 |
| 141 | INF2 | 14 | 0.92426666666667 | 284 | 3750 | 105173758-105173774, 105173842, 105173859-105174124 |
| 142 | NIPA1 | 15 | 0.82020202020202 | 178 | 990 | 23086234-23086411 |
| 143 | UBE3A | 15 | 0.99695585996956 | 8 | 2628 | 25616251-25616257, 25616757 |
| 144 | TRPM1 | 15 | 0.99979218620116 | 1 | 4812 | 31320574 |
| 145 | SLC12A6 | 15 | 0.99971039675644 | 1 | 3453 | 34549849 |
| 146 | CHST14 | 15 | 0.97877984084881 | 24 | 1131 | 40763457, 40763521-40763527, 40763530-40763531, 40763574-40763575, 40763784, 40763797, 40763804-40763808, 40763811-40763813, 40763816-40763817 |
| 147 | TTBK2 | 15 | 0.99785809906292 | 8 | 3735 | 43067851-43067857, 43120228 |
| 148 | STRC | 15 | 0.98911411411411 | 58 | 5328 | 43897544-43897560, 43910863-43910903 |
| 149 | STRC | 15 | 0.99641025641026 | 7 | 1950 | 44007086-44007092 |
| 150 | FBN1 | 15 | 0.99744661095636 | 22 | 8616 | 48760207-48760209, 48766769-48766778, 48766789-48766793, 48766799-48766802 |
| 151 | HCN4 | 15 | 0.99806201550388 | 7 | 3612 | 73616154, 73616188-73616193 |
| 152 | POLG | 15 | 0.99543010752688 | 17 | 3720 | 89876824-89876831, 89876837-89876840, 89876846-89876849, 89876859 |
| 153 | BLM | 15 | 0.99952985425482 | 2 | 4254 | 91337529-91337530 |
| 154 | GFER | 16 | 0.99676375404531 | 2 | 618 | 2034220, 2034224 |
| 155 | PKD1 | 16 | 0.97846964064436 | 278 | 12912 | 2141157-2141169, 2141172, 2143067, 2149672, 2149745-2149751, 2149862-2149879, 2149949-2149978, 2150051-2150059, 2150066-2150072, 2150461-2150476, 2154570-2154585, 2154596-2154643, 2156442-2156448, 2156489-2156525, 2156806-2156822, 2164808, 2165558-2165570, 2167871-2167877, 2185662-2185690 |
| 156 | SLX4 | 16 | 0.99981834695731 | 1 | 5505 | 3642826 |
| 157 | CREBBP | 16 | 0.99795333606222 | 15 | 7329 | 3778428-3778430, 3778440-3778447, 3778452-3778453, 3929897, 3929910 |
| 158 | ALG1 | 16 | 0.9426523297491 | 80 | 1395 | 5130969-5130999, 5132657-5132659, 5134776-5134821 |
| 159 | ABCC6 | 16 | 0.99844858156028 | 7 | 4512 | 16313509-16313515 |
| 160 | SCNN1B | 16 | 0.99687987519501 | 6 | 1923 | 23359950-23359955 |
| 161 | CLN3 | 16 | 0.99924069855733 | 1 | 1317 | 28497704 |
| 162 | PHKG2 | 16 | 0.995904995905 | 5 | 1221 | 30760142, 30760151, 30760160-30760161, 30760187 |
| 163 | FUS | 16 | 0.98671726755218 | 21 | 1581 | 31195689-31195708, 31195712 |
| 164 | SALL1 | 16 | 0.99723270440252 | 11 | 3975 | 51175656-51175658, 51175664-51175671 |
| 165 | RPGRIP1L | 16 | 0.99949341438703 | 2 | 3948 | 53672246, 53672266 |
| 166 | HSD11B2 | 16 | 0.92775041050903 | 88 | 1218 | 67465213-67465258, 67465262-67465269, 67465278-67465303, 67465308, 67469994, 67470520-67470523, 67470534-67470535 |
| 167 | LCAT | 16 | 0.99168556311413 | 11 | 1323 | 67976987-67976997 |
| 168 | MLYCD | 16 | 0.98245614035088 | 26 | 1482 | 83932850-83932851, 83932862-83932882, 83933195-83933197 |
| 169 | FOXF1 | 16 | 0.99122807017544 | 10 | 1140 | 86544194-86544198, 86544205-86544206, 86544226, 86544229, 86544232 |
| 170 | JPH3 | 16 | 0.99599465954606 | 9 | 2247 | 87723553-87723561 |
| 171 | SPG7 | 16 | 0.99832495812395 | 4 | 2388 | 89579413-89579416 |
| 172 | FANCA | 16 | 0.99862637362637 | 6 | 4368 | 89805914, 89805934, 89842165-89842168 |
| 173 | TUBB3 | 16 | 0.99334811529933 | 9 | 1353 | 90002187-90002190, 90002196-90002200 |
| 174 | ASPA | 17 | 0.99787685774947 | 2 | 942 | 3402307, 3402352 |
| 175 | GP1BA | 17 | 0.99947916666667 | 1 | 1920 | 4837171 |
| 176 | PITPNM3 | 17 | 0.99863247863248 | 4 | 2925 | 6459716-6459717, 6459720, 6459726 |
| 177 | CHRNB1 | 17 | 0.99933598937583 | 1 | 1506 | 7348467 |
| 178 | HES7 | 17 | 0.99852507374631 | 1 | 678 | 8025661 |
| 179 | ELAC2 | 17 | 0.99677549375252 | 8 | 2481 | 12906812-12906819 |
| 180 | COX10 | 17 | 0.96696696696697 | 44 | 1332 | 14095309, 14095345-14095387 |
| 181 | RAI1 | 17 | 0.99772766998776 | 13 | 5721 | 17697099-17697105, 17697121-17697126 |
| 182 | MYO15A | 17 | 0.99867837251015 | 14 | 10593 | 18024013, 18024019, 18024025, 18024037-18024040, 18024245, 18049337-18049338, 18057110, 18061141, 18070962-18070963 |
| 183 | UNC119 | 17 | 0.8478561549101 | 110 | 723 | 26879371-26879418, 26879424-26879483, 26879552, 26879558 |
| 184 | NF1 | 17 | 0.99237089201878 | 65 | 8520 | 29422328-29422329, 29422334-29422335, 29422339, 29422347, 29422379-29422380, 29586057, 29586082-29586084, 29586092, 29588748-29588792, 29664855-29664857, 29664860-29664861, 29665078, 29665130 |
| 185 | KRT10 | 17 | 0.97094017094017 | 51 | 1755 | 38975216-38975254, 38975300-38975301, 38975304-38975307, 38975315-38975319, 38975328 |
| 186 | KRT14 | 17 | 0.99577167019027 | 6 | 1419 | 39741304-39741309 |
| 187 | KRT16 | 17 | 0.96976090014065 | 43 | 1422 | 39766265-39766281, 39766599, 39767106-39767109, 39768490-39768496, 39768740-39768746, 39768932-39768938 |
| 188 | STAT5B | 17 | 0.99407783417936 | 14 | 2364 | 40384106-40384114, 40384120-40384124 |
| 189 | MAPT | 17 | 0.999570999571 | 1 | 2331 | 44073816 |
| 190 | COL1A1 | 17 | 0.99226393629124 | 34 | 4395 | 48265936-48265969 |
| 191 | TRIM37 | 17 | 0.9993091537133 | 2 | 2895 | 57105913, 57105927 |
| 192 | CA4 | 17 | 0.99148029818956 | 8 | 939 | 58236735-58236740, 58236744-58236745 |
| 193 | BRIP1 | 17 | 0.99653333333333 | 13 | 3750 | 59763247-59763258, 59924503 |
| 194 | ACE | 17 | 0.99770466717674 | 9 | 3921 | 61554487, 61554490, 61554494-61554495, 61554500, 61574577-61574580 |
| 195 | SCN4A | 17 | 0.99891126837235 | 6 | 5511 | 62029234-62029239 |
| 196 | SEPT9 | 17 | 0.92390687109597 | 134 | 1761 | 75484915-75484917, 75494605-75494620, 75494622-75494623, 75494626-75494630, 75494633-75494740 |
| 197 | SGSH | 17 | 0.9946984758118 | 8 | 1509 | 78194082-78194087, 78194091, 78194094 |
| 198 | LAMA3 | 18 | 0.99920015996801 | 8 | 10002 | 21526166-21526172, 21526176 |
| 199 | SMAD4 | 18 | 0.9746835443038 | 42 | 1659 | 48593414-48593440, 48593474, 48593477-48593479, 48593504, 48593507-48593508, 48603063-48603065, 48603068-48603070, 48603073, 48603079 |
| 200 | LMAN1 | 18 | 0.99478147423353 | 8 | 1533 | 57000459-57000466 |
| 201 | TNFRSF11A | 18 | 0.99243652079957 | 14 | 1851 | 59992604, 59992609, 59992619-59992624, 59992628, 59992631-59992632, 59992637-59992639 |
| 202 | ELANE | 19 | 0.88432835820896 | 93 | 804 | 853262-853274, 853297-853303, 853306-853378 |
| 203 | KISS1R | 19 | 0.97911445279866 | 25 | 1197 | 920310-920313, 920332, 920351, 920368-920385, 920388 |
| 204 | MAP2K2 | 19 | 0.92352452202826 | 92 | 1203 | 4123781-4123872 |
| 205 | PNPLA6 | 19 | 0.99598393574297 | 16 | 3984 | 7619506-7619521 |
| 206 | PRKCSH | 19 | 0.99810964083176 | 3 | 1587 | 11558341-11558343 |
| 207 | CACNA1A | 19 | 0.99255418162478 | 56 | 7521 | 13318522-13318529, 13318668-13318700, 13318704, 13616941-13616949, 13616955, 13616958-13616961 |
| 208 | NOTCH3 | 19 | 0.99483204134367 | 36 | 6966 | 15281317, 15281326-15281329, 15311619-15311647, 15311666, 15311669 |
| 209 | JAK3 | 19 | 0.9922962962963 | 26 | 3375 | 17940935-17940954, 17941367, 17949193, 17950343-17950346 |
| 210 | CEBPA | 19 | 0.97493036211699 | 27 | 1077 | 33792755-33792763, 33792766, 33792769, 33792863, 33793008-33793010, 33793143-33793145, 33793152-33793155, 33793234-33793236, 33793242, 33793246 |
| 211 | SCN1B | 19 | 0.95043370508055 | 40 | 807 | 35521725-35521764 |
| 212 | RYR1 | 19 | 0.99953694516108 | 7 | 15117 | 38931400, 38931405, 39037101-39037104, 39037107 |
| 213 | ACTN4 | 19 | 0.99963450292398 | 1 | 2736 | 39216475 |
| 214 | PRX | 19 | 0.98381212950296 | 71 | 4386 | 40900733, 40901320-40901328, 40909649-40909653, 40909656-40909658, 40909664-40909669, 40909676-40909698, 40909707-40909710, 40909716-40909723, 40909737, 40909747-40909750, 40909753, 40909756-40909760, 40909769 |
| 215 | ATP1A3 | 19 | 0.99129961935835 | 32 | 3678 | 42480574-42480605 |
| 216 | BCAM | 19 | 0.98887122416534 | 21 | 1887 | 45312421-45312425, 45312430, 45312433-45312439, 45312443, 45315616-45315622 |
| 217 | SIX5 | 19 | 0.9963963963964 | 8 | 2220 | 46270179-46270186 |
| 218 | DMPK | 19 | 0.97407407407407 | 49 | 1890 | 46285543, 46285548-46285590, 46285603-46285607 |
| 219 | FKRP | 19 | 0.99731182795699 | 4 | 1488 | 47260165-47260168 |
| 220 | CRX | 19 | 0.99666666666667 | 3 | 900 | 48342631-48342633 |
| 221 | DBP | 19 | 0.99284253578732 | 7 | 978 | 49138847-49138853 |
| 222 | MED25 | 19 | 0.99732620320856 | 6 | 2244 | 50339523-50339526, 50339529-50339530 |
| 223 | MYH14 | 19 | 0.99918180330551 | 5 | 6111 | 50770215-50770219 |
| 224 | KCNC3 | 19 | 0.86807387862797 | 300 | 2274 | 50823503-50823596, 50831498-50831501, 50831507, 50831511-50831519, 50831550-50831551, 50831554, 50831691, 50831948, 50831951, 50831954-50831959, 50831966-50831967, 50832021-50832022, 50832026, 50832036, 50832152-50832153, 50832168-50832339 |
| 225 | PRKCG | 19 | 0.99522445081184 | 10 | 2094 | 54393201, 54393211, 54393216, 54393248-54393253, 54401319 |
| 226 | TNNT1 | 19 | 0.99746514575412 | 2 | 789 | 55657833-55657834 |
| 227 | KLF11 | 2 | 0.99350227420403 | 10 | 1539 | 10183857-10183862, 10183882-10183885 |
| 228 | LPIN1 | 2 | 0.99962588851478 | 1 | 2673 | 11955331 |
| 229 | APOB | 2 | 0.99817411627228 | 25 | 13692 | 21266746-21266758, 21266761-21266765, 21266788-21266794 |
| 230 | POMC | 2 | 0.99875621890547 | 1 | 804 | 25384465 |
| 231 | HADHA | 2 | 0.99650959860384 | 8 | 2292 | 26416477-26416484 |
| 232 | OTOF | 2 | 0.98815482148815 | 71 | 5994 | 26699759-26699814, 26699836, 26699845-26699849, 26699855, 26712594-26712596, 26712599-26712600, 26712606-26712608 |
| 233 | ALK | 2 | 0.99979436561793 | 1 | 4863 | 29451752 |
| 234 | SPAST | 2 | 0.89086980010805 | 202 | 1851 | 32289015, 32289076-32289078, 32289083-32289257, 32340780, 32341188-32341209 |
| 235 | SOS1 | 2 | 0.99950024987506 | 2 | 4002 | 39224444, 39224481 |
| 236 | ABCG5 | 2 | 0.99948875255624 | 1 | 1956 | 44058974 |
| 237 | SIX3 | 2 | 0.998998998999 | 1 | 999 | 45169443 |
| 238 | EPCAM | 2 | 0.98730158730159 | 12 | 945 | 47602421-47602432 |
| 239 | MSH2 | 2 | 0.99251336898396 | 21 | 2805 | 47639655, 47641506-47641513, 47641546-47641557 |
| 240 | MSH6 | 2 | 0.99975508204751 | 1 | 4083 | 48027643 |
| 241 | LHCGR | 2 | 0.99571428571429 | 9 | 2100 | 48982766-48982770, 48982773-48982776 |
| 242 | NRXN1 | 2 | 0.99977401129943 | 1 | 4425 | 50765567 |
| 243 | EFEMP1 | 2 | 0.96626180836707 | 50 | 1482 | 56102099, 56102113-56102153, 56102156, 56102161-56102167 |
| 244 | ALMS1 | 2 | 0.99592130518234 | 51 | 12504 | 73612997-73613037, 73786113, 73786117, 73786121, 73827996-73828002 |
| 245 | DCTN1 | 2 | 0.99791503778994 | 8 | 3837 | 74592660-74592667 |
| 246 | MOGS | 2 | 0.99840891010342 | 4 | 2514 | 74689608-74689611 |
| 247 | SUCLG1 | 2 | 0.99903938520653 | 1 | 1041 | 84668427 |
| 248 | REEP1 | 2 | 0.94719471947195 | 32 | 606 | 86564602-86564633 |
| 249 | EIF2AK3 | 2 | 0.9913458669054 | 29 | 3351 | 88879083-88879095, 88926734-88926749 |
| 250 | RANBP2 | 2 | 0.9662015503876 | 327 | 9675 | 109352628-109352643, 109357110-109357116, 109367868-109367891, 109368104-109368110, 109369982-109369994, 109371468-109371474, 109371632-109371662, 109374901-109374919, 109378610-109378651, 109383052-109383058, 109383107-109383148, 109383268-109383274, 109383315-109383321, 109383354-109383360, 109383768-109383798, 109383885-109383891, 109383986-109384013, 109384505-109384529 |
| 251 | NPHP1 | 2 | 0.99115044247788 | 18 | 2034 | 110886767-110886782, 110917746-110917747 |
| 252 | MERTK | 2 | 0.98933333333333 | 32 | 3000 | 112656316-112656346, 112656371 |
| 253 | GLI2 | 2 | 0.99705944129385 | 14 | 4761 | 121746151-121746164 |
| 254 | PROC | 2 | 0.98845598845599 | 16 | 1386 | 128180678, 128180681-128180686, 128180705, 128180708-128180714, 128180717 |
| 255 | RAB3GAP1 | 2 | 0.99864222674813 | 4 | 2946 | 135815584, 135815651, 135848630, 135888126 |
| 256 | LCT | 2 | 0.99913554633472 | 5 | 5784 | 136575555, 136575558, 136594404-136594406 |
| 257 | NEB | 2 | 0.99379192950836 | 124 | 19974 | 152359380-152359381, 152372981-152372987, 152432688, 152432692, 152432705-152432707, 152432710, 152432713, 152432719-152432815, 152432817-152432827 |
| 258 | SCN2A | 2 | 0.99983383183782 | 1 | 6018 | 166237636 |
| 259 | SCN1A | 2 | 0.99799899949975 | 12 | 5997 | 166892855-166892866 |
| 260 | SCN9A | 2 | 0.99983147960903 | 1 | 5934 | 167145153 |
| 261 | AGPS | 2 | 0.95245321193728 | 94 | 1977 | 178333200-178333201, 178346787-178346859, 178346901-178346914, 178362468-178362471, 178362493 |
| 262 | TTN | 2 | 0.99929175644402 | 71 | 100248 | 179419429-179419432, 179436549-179436556, 179449832-179449839, 179523795-179523806, 179597561-179597571, 179597582-179597591, 179598582-179598595, 179665141-179665144 |
| 263 | CERKL | 2 | 0.99749843652283 | 4 | 1599 | 182409481-182409484 |
| 264 | COL3A1 | 2 | 0.98659395591911 | 59 | 4401 | 189850446, 189854142-189854171, 189856934, 189860865, 189871663-189871680, 189871687-189871694 |
| 265 | COL5A2 | 2 | 0.99555555555556 | 20 | 4500 | 189916187-189916194, 189916904, 189916925, 189927936-189927943, 189936788, 189936801 |
| 266 | PMS1 | 2 | 0.97606287959986 | 67 | 2799 | 190718669-190718675, 190718703-190718705, 190718708-190718726, 190718791-190718808, 190738294-190738305, 190738375-190738382 |
| 267 | STAT1 | 2 | 0.99689303151354 | 7 | 2253 | 191859811, 191874662-191874667 |
| 268 | HSPD1 | 2 | 0.98954703832753 | 18 | 1722 | 198351826-198351843 |
| 269 | ALS2 | 2 | 0.99959790912746 | 2 | 4974 | 202626331-202626332 |
| 270 | NDUFS1 | 2 | 0.99450549450549 | 12 | 2184 | 206992650-206992657, 207017194-207017197 |
| 271 | ACADL | 2 | 0.99149265274555 | 11 | 1293 | 211082692-211082702 |
| 272 | CPS1 | 2 | 0.99933377748168 | 3 | 4503 | 211507214-211507216 |
| 273 | ABCA12 | 2 | 0.99743194658449 | 20 | 7788 | 215797420-215797424, 215876241-215876252, 215901780-215901782 |
| 274 | SMARCAL1 | 2 | 0.99860383944154 | 4 | 2865 | 217347564-217347566, 217347569 |
| 275 | OBSL1 | 2 | 0.99261992619926 | 42 | 5691 | 220416299, 220435636, 220435668-220435671, 220435681, 220435686, 220435732-220435756, 220435767-220435775 |
| 276 | COL4A4 | 2 | 0.99921011058452 | 4 | 5064 | 227984626-227984629 |
| 277 | CHRND | 2 | 0.99356499356499 | 10 | 1554 | 233390930-233390931, 233390934-233390941 |
| 278 | UGT1A1 | 2 | 0.98751560549313 | 20 | 1602 | 234668951-234668954, 234668969-234668984 |
| 279 | C20orf54 | 20 | 0.99716312056738 | 4 | 1410 | 744357, 744370-744372 |
| 280 | AVP | 20 | 0.97777777777778 | 11 | 495 | 3063305, 3063353-3063354, 3063638, 3063642, 3063775, 3063798-3063802 |
| 281 | SNTA1 | 20 | 0.99407114624506 | 9 | 1518 | 32031405-32031413 |
| 282 | CTSA | 20 | 0.99799599198397 | 3 | 1497 | 44520238-44520240 |
| 283 | SALL4 | 20 | 0.99905123339658 | 3 | 3162 | 50418882-50418884 |
| 284 | GNAS | 20 | 0.9971098265896 | 9 | 3114 | 57429660, 57429693-57429700 |
| 285 | CHRNA4 | 20 | 0.97876857749469 | 40 | 1884 | 61992461-61992500 |
| 286 | SOX18 | 20 | 0.69004329004329 | 358 | 1155 | 62680512-62680869 |
| 287 | IFNGR2 | 21 | 0.92800788954635 | 73 | 1014 | 34775850-34775922 |
| 288 | AIRE | 21 | 0.9981684981685 | 3 | 1638 | 45714287-45714289 |
| 289 | COL18A1 | 21 | 0.99962013295347 | 2 | 5265 | 46930057, 46930060 |
| 290 | COL6A1 | 21 | 0.98931000971817 | 33 | 3087 | 47401778-47401810 |
| 291 | FTCD | 21 | 0.99446494464945 | 9 | 1626 | 47565743-47565751 |
| 292 | PCNT | 21 | 0.9991009889122 | 9 | 10011 | 47832898-47832906 |
| 293 | PRODH | 22 | 0.99889073765946 | 2 | 1803 | 18904489, 18908902 |
| 294 | TBX1 | 22 | 0.87970430107527 | 179 | 1488 | 19748428-19748599, 19753512-19753517, 19753993 |
| 295 | CHEK2 | 22 | 0.94946053378762 | 89 | 1761 | 29083906-29083923, 29083936-29083965, 29085123-29085148, 29085165-29085171, 29091837-29091844 |
| 296 | MYH9 | 22 | 0.99915009348972 | 5 | 5883 | 36688076-36688079, 36688094 |
| 297 | TRIOBP | 22 | 0.97154127923359 | 202 | 7098 | 38119795-38119812, 38119856-38119905, 38119948-38119982, 38120030-38120052, 38120176-38120178, 38120297-38120303, 38120394-38120432, 38120480-38120506 |
| 298 | EP300 | 22 | 0.99820565907522 | 13 | 7245 | 41525973-41525985 |
| 299 | CYB5R3 | 22 | 0.98123620309051 | 17 | 906 | 43045305-43045321 |
| 300 | ATXN10 | 22 | 0.99929971988796 | 1 | 1428 | 46067964 |
| 301 | MLC1 | 22 | 0.99647266313933 | 4 | 1134 | 50502606-50502609 |
| 302 | SHANK3 | 22 | 0.83199847444699 | 881 | 5244 | 51113070-51113132, 51135951-51136143, 51158738-51159209, 51159452-51159454, 51159458-51159467, 51169166, 51169170-51169172, 51169441, 51169488-51169489, 51169494-51169593, 51169596-51169598, 51169601-51169609, 51169632, 51169676-51169680, 51169685-51169689, 51169713-51169720, 51169739-51169740 |
| 303 | FANCD2 | 3 | 0.99388586956522 | 27 | 4416 | 10091150-10091156, 10107087-10107093, 10114937-10114949 |
| 304 | RAF1 | 3 | 0.99640472521828 | 7 | 1947 | 12660113-12660119 |
| 305 | XPC | 3 | 0.99858306765852 | 4 | 2823 | 14187449, 14219966-14219968 |
| 306 | THRB | 3 | 0.99422799422799 | 8 | 1386 | 24169102-24169109 |
| 307 | TMIE | 3 | 0.99564270152505 | 2 | 459 | 46743007, 46743010 |
| 308 | TMIE | 3 | 0.99575371549894 | 2 | 471 | 46743007, 46743010 |
| 309 | GNAT1 | 3 | 0.99905033238367 | 1 | 1053 | 50232243 |
| 310 | RFT1 | 3 | 0.99815498154982 | 3 | 1626 | 53156460-53156462 |
| 311 | HESX1 | 3 | 0.99641577060932 | 2 | 558 | 57232255-57232256 |
| 312 | FLNB | 3 | 0.99948777052119 | 4 | 7809 | 58089795-58089798 |
| 313 | ATXN7 | 3 | 0.88548273431994 | 325 | 2838 | 63898275-63898599 |
| 314 | MITF | 3 | 0.99872040946897 | 2 | 1563 | 69928286-69928287 |
| 315 | ROBO2 | 3 | 0.99758278946096 | 10 | 4137 | 77526641-77526648, 77571957-77571958 |
| 316 | GBE1 | 3 | 0.95685158843054 | 91 | 2109 | 81584344-81584354, 81754598-81754599, 81754611-81754644, 81754647-81754652, 81754654, 81754667-81754671, 81754693-81754701, 81754710-81754724, 81754748-81754755 |
| 317 | PROS1 | 3 | 0.97439684884293 | 52 | 2031 | 93595900-93595906, 93595910, 93595916-93595917, 93595941-93595948, 93595951, 93595954-93595979, 93596013-93596016, 93596021-93596023 |
| 318 | ARL13B | 3 | 0.99222999222999 | 10 | 1287 | 93761859-93761867, 93762061 |
| 319 | IQCB1 | 3 | 0.99944351697273 | 1 | 1797 | 121526220 |
| 320 | NPHP3 | 3 | 0.96368645128976 | 145 | 3993 | 132438549-132438674, 132441009, 132441014, 132441073, 132441076, 132441082-132441092, 132441095-132441098 |
| 321 | PCCB | 3 | 0.99753086419753 | 4 | 1620 | 136048795-136048797, 136048801 |
| 322 | FOXL2 | 3 | 0.98496905393457 | 17 | 1131 | 138664865-138664879, 138664889, 138665039 |
| 323 | PLOD2 | 3 | 0.97452788757137 | 58 | 2277 | 145804578, 145804587-145804588, 145804593-145804606, 145804625-145804634, 145804641-145804648, 145804657-145804679 |
| 324 | IFT80 | 3 | 0.99742268041237 | 6 | 2328 | 160073849-160073852, 160099327, 160099330 |
| 325 | PDCD10 | 3 | 0.99374021909233 | 4 | 639 | 167405024-167405027 |
| 326 | SLC2A2 | 3 | 0.99746031746032 | 4 | 1575 | 170716883-170716886 |
| 327 | SOX2 | 3 | 0.9937106918239 | 6 | 954 | 181430217, 181430234, 181430237-181430240 |
| 328 | OPA1 | 3 | 0.99048556430446 | 29 | 3048 | 193355018-193355020, 193355023-193355034, 193355044-193355046, 193355052-193355060, 193355069-193355070 |
| 329 | IDUA | 4 | 0.99592252803262 | 8 | 1962 | 996630-996636, 996640 |
| 330 | FGFR3 | 4 | 0.99917593737124 | 2 | 2427 | 1808917-1808918 |
| 331 | HTT | 4 | 0.99109131403118 | 84 | 9429 | 3076609-3076665, 3076669, 3076672, 3076681, 3201607-3201617, 3213785-3213797 |
| 332 | DOK7 | 4 | 0.9973597359736 | 4 | 1515 | 3465260-3465262, 3465277 |
| 333 | EVC | 4 | 0.99798590130916 | 6 | 2979 | 5713208-5713212, 5810003 |
| 334 | CNGA1 | 4 | 0.95087719298246 | 112 | 2280 | 47954637-47954662, 47972914-47972917, 47972926-47972933, 47972943-47972948, 47972975-47972979, 47972989-47973003, 47973005, 47973022, 47973031, 47973046-47973084, 47973104-47973109 |
| 335 | PDGFRA | 4 | 0.99938837920489 | 2 | 3270 | 55130027-55130028 |
| 336 | PKD2 | 4 | 0.99552803577571 | 13 | 2907 | 88928944-88928954, 88928998, 88929009 |
| 337 | SNCA | 4 | 0.95744680851064 | 18 | 423 | 90749311-90749318, 90749323-90749328, 90756702, 90756705-90756707 |
| 338 | MANBA | 4 | 0.99962121212121 | 1 | 2640 | 103644123 |
| 339 | CISD2 | 4 | 0.91176470588235 | 36 | 408 | 103808506-103808522, 103808569-103808587 |
| 340 | CFI | 4 | 0.99771689497717 | 4 | 1752 | 110673637-110673639, 110673645 |
| 341 | BBS7 | 4 | 0.96927374301676 | 66 | 2148 | 122766729-122766733, 122766748-122766749, 122775880-122775883, 122775888-122775892, 122775914, 122775923, 122775928-122775975 |
| 342 | MFSD8 | 4 | 0.99678869621066 | 5 | 1557 | 128859946-128859949, 128859974 |
| 343 | FGA | 4 | 0.99423298731257 | 15 | 2601 | 155507674-155507680, 155510040-155510047 |
| 344 | GLRB | 4 | 0.96586345381526 | 51 | 1494 | 158041708-158041715, 158041717-158041736, 158041743-158041749, 158041777-158041788, 158041807-158041810 |
| 345 | GK | 4 | 0.99097472924188 | 15 | 1662 | 166199346-166199352, 166199386-166199392, 166200063 |
| 346 | SDHA | 5 | 0.94486215538847 | 110 | 1995 | 235296-235340, 236673-236681, 251108-251149, 251500-251506, 254571-254577 |
| 347 | TERT | 5 | 0.99735216240071 | 9 | 3399 | 1294718-1294719, 1295080-1295084, 1295088, 1295093 |
| 348 | SDHA | 5 | 0.97859327217125 | 7 | 327 | 1593261-1593267 |
| 349 | DNAH5 | 5 | 0.992 | 111 | 13875 | 13792238-13792244, 13916457-13916560 |
| 350 | AMACR | 5 | 0.99825935596171 | 2 | 1149 | 34004729, 34004732 |
| 351 | NIPBL | 5 | 0.97147950089127 | 240 | 8415 | 37022457-37022458, 37024702-37024705, 37024708, 37024712-37024715, 37024750, 37036481-37036589, 37048609-37048673, 37048693-37048733, 37048754-37048760, 37064042-37064047 |
| 352 | LIFR | 5 | 0.99483910139648 | 17 | 3294 | 38482712-38482714, 38482743, 38490304-38490310, 38506055, 38506108, 38506152-38506155 |
| 353 | OXCT1 | 5 | 0.97184900831734 | 44 | 1563 | 41862744-41862747, 41862767-41862772, 41862778, 41862782-41862789, 41862794-41862816, 41862821-41862822 |
| 354 | FGF10 | 5 | 0.99681020733652 | 2 | 627 | 44388716-44388717 |
| 355 | ITGA2 | 5 | 0.99915397631134 | 3 | 3546 | 52322679-52322681 |
| 356 | NDUFAF2 | 5 | 0.97254901960784 | 14 | 510 | 60448580-60448592, 60448736 |
| 357 | SMN2 | 5 | 0.99774011299435 | 2 | 885 | 69362949, 69372353 |
| 358 | SMN2 | 5 | 0.99887005649718 | 1 | 885 | 70238373 |
| 359 | AP3B1 | 5 | 0.99847792998478 | 5 | 3285 | 77311341-77311343, 77412015, 77536693 |
| 360 | RASA1 | 5 | 0.94751908396947 | 165 | 3144 | 86633824-86633830, 86669980-86670137 |
| 361 | MEF2C | 5 | 0.98804500703235 | 17 | 1422 | 88024352-88024360, 88024373, 88024394-88024400 |
| 362 | GPR98 | 5 | 0.99931293272026 | 13 | 18921 | 89941787, 89941792, 89941816-89941820, 89948351-89948354, 90049475, 90144577 |
| 363 | WDR36 | 5 | 0.99754901960784 | 7 | 2856 | 110436312, 110436341-110436342, 110436395, 110461367-110461369 |
| 364 | APC | 5 | 0.99988279418659 | 1 | 8532 | 112111326 |
| 365 | ALDH7A1 | 5 | 0.99506172839506 | 8 | 1620 | 125890009-125890016 |
| 366 | FBN2 | 5 | 0.99359194415837 | 56 | 8739 | 127614445, 127685149, 127702070-127702123 |
| 367 | MYOT | 5 | 0.98997995991984 | 15 | 1497 | 137221774, 137221780, 137221784, 137221801-137221809, 137221830-137221831, 137221864 |
| 368 | MATR3 | 5 | 0.99921383647799 | 2 | 2544 | 138658531-138658532 |
| 369 | DIAPH1 | 5 | 0.9924063891071 | 29 | 3819 | 140953505, 140953525-140953538, 140953563-140953569, 140960417-140960419, 140960422-140960425 |
| 370 | GABRA1 | 5 | 0.99927060539752 | 1 | 1371 | 161302614 |
| 371 | NSD1 | 5 | 0.99851687059696 | 12 | 8091 | 176687052, 176694694-176694704 |
| 372 | GRM6 | 5 | 0.99848139711465 | 4 | 2634 | 178421678, 178421687, 178421896-178421897 |
| 373 | SQSTM1 | 5 | 0.99546485260771 | 6 | 1323 | 179248074-179248077, 179248090-179248091 |
| 374 | FLT4 | 5 | 0.99975562072336 | 1 | 4092 | 180076534 |
| 375 | FOXC1 | 6 | 0.99939831528279 | 1 | 1662 | 1610822 |
| 376 | TUBB2B | 6 | 0.99476831091181 | 7 | 1338 | 3225569-3225575 |
| 377 | TFAP2A | 6 | 0.99847792998478 | 2 | 1314 | 10410410-10410411 |
| 378 | DTNBP1 | 6 | 0.99905303030303 | 1 | 1056 | 15663067 |
| 379 | ATXN1 | 6 | 0.97753267973856 | 55 | 2448 | 16327870-16327875, 16327879-16327903, 16327909, 16327913-16327933, 16327936, 16327946 |
| 380 | NHLRC1 | 6 | 0.99915824915825 | 1 | 1188 | 18122720 |
| 381 | HLA-H | 6 | 0.93866666666667 | 46 | 750 | 29856330, 29856347, 29856397, 29856406, 29856516, 29856593-29856614, 29856628-29856646 |
| 382 | TNXB | 6 | 0.95749092794194 | 82 | 1929 | 31976896-31976929, 31977141-31977147, 31977388-31977394, 31977498-31977510, 31977863-31977869, 31979422-31979428, 31979604-31979610 |
| 383 | CYP21A2 | 6 | 0.94825268817204 | 77 | 1488 | 32006211-32006234, 32006317, 32006337, 32006384-32006390, 32007884-32007890, 32008871-32008907 |
| 384 | TNXB | 6 | 0.99371513865975 | 80 | 12729 | 32009648-32009664, 32009876-32009884, 32010123-32010129, 32010232-32010244, 32010597-32010608, 32011214-32011221, 32012276-32012282, 32012458-32012464 |
| 385 | HLA-DQA1 | 6 | 0.91796875 | 63 | 768 | 32609105-32609106, 32609948-32609977, 32610002, 32610008-32610009, 32610387-32610407, 32610428, 32610461, 32610478, 32610481, 32610534-32610535, 32610538 |
| 386 | HLA-DQB1 | 6 | 0.79898218829517 | 158 | 786 | 32629124-32629174, 32629224-32629234, 32629755, 32632575-32632615, 32632650, 32632681-32632710, 32632714, 32632717-32632720, 32632724, 32632741-32632747, 32632781-32632782, 32632820, 32634300-32634302, 32634331, 32634341, 32634355, 32634373 |
| 387 | COL11A2 | 6 | 0.99846478602955 | 8 | 5211 | 33140131-33140138 |
| 388 | SYNGAP1 | 6 | 0.93477182539683 | 263 | 4032 | 33388042-33388108, 33393598-33393603, 33393614-33393618, 33393631-33393680, 33411510-33411530, 33411541-33411578, 33411584-33411585, 33411588-33411597, 33411616-33411678, 33411691 |
| 389 | RUNX2 | 6 | 0.97701149425287 | 36 | 1566 | 45390461-45390488, 45390499-45390506 |
| 390 | CD2AP | 6 | 0.99895833333333 | 2 | 1920 | 47563648, 47563652 |
| 391 | MUT | 6 | 0.97292498890368 | 61 | 2253 | 49409553, 49409576-49409582, 49409606-49409612, 49409625-49409639, 49409649-49409651, 49421336-49421344, 49421423, 49421432, 49421436-49421438, 49423834-49423836, 49423859-49423865, 49423874-49423877 |
| 392 | PKHD1 | 6 | 0.99893660531697 | 13 | 12225 | 51618044-51618056 |
| 393 | EYS | 6 | 0.9915209326974 | 80 | 9435 | 64430699-64430711, 64940563-64940565, 64940572, 64940575-64940580, 65098688, 65098704-65098710, 65523375-65523376, 65523457, 65596590-65596615, 66063351-66063369, 66115248 |
| 394 | LMBRD1 | 6 | 0.99691928527418 | 5 | 1623 | 70410732, 70410738-70410741 |
| 395 | COL9A1 | 6 | 0.99963846710051 | 1 | 2766 | 70981386 |
| 396 | RIMS1 | 6 | 0.99094309903524 | 46 | 5079 | 72945402, 72960052, 72974689, 72974704, 73108735-73108753, 73108759-73108778, 73108787-73108789 |
| 397 | LCA5 | 6 | 0.99952244508118 | 1 | 2094 | 80196776 |
| 398 | BCKDHB | 6 | 0.99745547073791 | 3 | 1179 | 80881043, 80881056, 80881077 |
| 399 | SLC35A1 | 6 | 0.98915187376726 | 11 | 1014 | 88218179-88218189 |
| 400 | RARS2 | 6 | 0.99827288428325 | 3 | 1737 | 88231231-88231232, 88231237 |
| 401 | OSTM1 | 6 | 0.99701492537313 | 3 | 1005 | 108365996-108365998 |
| 402 | FIG4 | 6 | 0.9985315712188 | 4 | 2724 | 110081478-110081481 |
| 403 | WISP3 | 6 | 0.98748882931189 | 14 | 1119 | 112389527-112389537, 112389549-112389551 |
| 404 | COL10A1 | 6 | 0.9995105237396 | 1 | 2043 | 116442258 |
| 405 | GJA1 | 6 | 0.96605744125326 | 39 | 1149 | 121768680-121768711, 121768922-121768928 |
| 406 | LAMA2 | 6 | 0.99989319662501 | 1 | 9363 | 129670520 |
| 407 | ENPP1 | 6 | 0.98668106551476 | 37 | 2778 | 132203485-132203500, 132203511-132203513, 132203552-132203569 |
| 408 | PEX7 | 6 | 0.89814814814815 | 99 | 972 | 137167221-137167319 |
| 409 | IFNGR1 | 6 | 0.99931972789116 | 1 | 1470 | 137524728 |
| 410 | PEX3 | 6 | 0.99286987522282 | 8 | 1122 | 143792201-143792204, 143792216, 143792553, 143792563, 143792576 |
| 411 | STX11 | 6 | 0.99421296296296 | 5 | 864 | 144508398-144508402 |
| 412 | SYNE1 | 6 | 0.99897704023642 | 27 | 26394 | 152545787-152545796, 152558015-152558022, 152730751, 152782797-152782804 |
| 413 | TBP | 6 | 0.9421568627451 | 59 | 1020 | 170871026-170871030, 170871038-170871053, 170871058, 170871066, 170871072-170871101, 170871131-170871136 |
| 414 | LFNG | 7 | 0.87280701754386 | 145 | 1140 | 2559496-2559550, 2559554-2559558, 2559577, 2559597-2559635, 2559655-2559697, 2559762, 2559895 |
| 415 | PMS2 | 7 | 0.98493626882966 | 39 | 2589 | 6013041-6013052, 6013149-6013157, 6026905-6026911, 6026988, 6027002, 6029437-6029440, 6029452-6029456 |
| 416 | TWIST1 | 7 | 0.7487684729064 | 153 | 609 | 19156759, 19156793-19156944 |
| 417 | DNAH11 | 7 | 0.99874742116121 | 17 | 13572 | 21630636, 21630926-21630941 |
| 418 | HOXA13 | 7 | 0.83890317052271 | 188 | 1167 | 27239093, 27239303, 27239308-27239458, 27239461, 27239467-27239472, 27239475-27239479, 27239552-27239553, 27239556-27239575, 27239584 |
| 419 | BBS9 | 7 | 0.99136636636637 | 23 | 2664 | 33296959-33296961, 33303965, 33303968-33303986 |
| 420 | GLI3 | 7 | 0.99915665190808 | 4 | 4743 | 42005589, 42005595-42005597 |
| 421 | CCM2 | 7 | 0.97752808988764 | 30 | 1335 | 45039933-45039962 |
| 422 | EGFR | 7 | 0.99697219928434 | 11 | 3633 | 55086990-55086991, 55087004-55087012 |
| 423 | KCTD7 | 7 | 0.99885057471264 | 1 | 870 | 66094169 |
| 424 | NCF1 | 7 | 0.97454545454545 | 21 | 825 | 72640033-72640039, 72643704-72643710, 72644230-72644236 |
| 425 | ELN | 7 | 0.98804597701149 | 26 | 2175 | 73442544, 73442555-73442573, 73471984-73471989 |
| 426 | NCF1 | 7 | 0.99403239556692 | 7 | 1173 | 74193639-74193645 |
| 427 | HGF | 7 | 0.99954275262917 | 1 | 2187 | 81340830 |
| 428 | ABCB4 | 7 | 0.99921875 | 3 | 3840 | 87031476, 87031481-87031482 |
| 429 | AKAP9 | 7 | 0.99624701467076 | 44 | 11724 | 91609603-91609629, 91609635-91609646, 91709121-91709125 |
| 430 | KRIT1 | 7 | 0.99683401175938 | 7 | 2211 | 91852154-91852157, 91867061-91867063 |
| 431 | COL1A2 | 7 | 0.99634235552304 | 15 | 4101 | 94027060-94027070, 94030899, 94043002-94043003, 94044566 |
| 432 | SLC26A5 | 7 | 0.98299776286353 | 38 | 2235 | 103017256-103017293 |
| 433 | RELN | 7 | 0.99971089910379 | 3 | 10377 | 103138360-103138362 |
| 434 | DLD | 7 | 0.98169934640523 | 28 | 1530 | 107545820-107545822, 107555991-107556014, 107556025 |
| 435 | IFRD1 | 7 | 0.99778761061947 | 3 | 1356 | 112102165, 112102172, 112102175 |
| 436 | CFTR | 7 | 0.94800810263336 | 231 | 4443 | 117170981-117170991, 117171100-117171107, 117188713-117188753, 117188760-117188800, 117188838-117188877, 117234984-117234994, 117235001-117235059, 117235067-117235086 |
| 437 | AASS | 7 | 0.99892125134844 | 3 | 2781 | 121769587-121769589 |
| 438 | ATP6V0A4 | 7 | 0.97146254458977 | 72 | 2523 | 138394369-138394439, 138394473 |
| 439 | BRAF | 7 | 0.99565406345067 | 10 | 2301 | 140434547-140434553, 140624408, 140624412, 140624417 |
| 440 | PRSS1 | 7 | 0.8010752688172 | 148 | 744 | 142458448-142458489, 142459653-142459697, 142459868-142459878, 142460332-142460342, 142460366-142460397, 142460798-142460804 |
| 441 | CLCN1 | 7 | 0.99865183687226 | 4 | 2967 | 143047479-143047480, 143047491-143047492 |
| 442 | CNTNAP2 | 7 | 0.997997997998 | 8 | 3996 | 145813984-145813988, 145813997, 147914485-147914486 |
| 443 | KCNH2 | 7 | 0.9816091954023 | 64 | 3480 | 150644031-150644038, 150644720-150644722, 150644734-150644737, 150644764, 150644767, 150645564-150645568, 150671864-150671869, 150671877, 150671880-150671885, 150671888, 150674974-150675001 |
| 444 | SHH | 7 | 0.99496040316775 | 7 | 1389 | 155595777-155595779, 155595795, 155595798, 155595803-155595804 |
| 445 | MNX1 | 7 | 0.86152570480929 | 167 | 1206 | 156798445-156798481, 156799289, 156802541-156802542, 156802652, 156802656, 156802658-156802760, 156802763, 156802774, 156802780-156802788, 156802900-156802905, 156802914-156802918 |
| 446 | ADAM9 | 8 | 0.99593495934959 | 10 | 2460 | 38940212, 38947633-38947637, 38947643-38947645, 38959429 |
| 447 | HGSNAT | 8 | 0.9937106918239 | 12 | 1908 | 42995698-42995703, 42995707-42995712 |
| 448 | CHD7 | 8 | 0.99844340671559 | 14 | 8994 | 61734583, 61734622-61734629, 61749508-61749510, 61749516-61749517 |
| 449 | NBN | 8 | 0.99514348785872 | 11 | 2265 | 90976648-90976658 |
| 450 | DECR1 | 8 | 0.99404761904762 | 6 | 1008 | 91057077-91057081, 91057099 |
| 451 | TMEM67 | 8 | 0.99732262382865 | 8 | 2988 | 94777670, 94827586-94827589, 94827595-94827596, 94827600 |
| 452 | VPS13B | 8 | 0.99424712356178 | 69 | 11994 | 100123403, 100123406-100123416, 100123431-100123436, 100123440-100123441, 100123445-100123450, 100123475-100123481, 100146907, 100513971, 100513979-100513992, 100514062-100514079, 100883857-100883858 |
| 453 | KCNQ3 | 8 | 0.99618174875907 | 10 | 2619 | 133492573-133492575, 133492579, 133492758, 133492775-133492779 |
| 454 | TG | 8 | 0.99987961959793 | 1 | 8307 | 133882071 |
| 455 | NDRG1 | 8 | 0.99831223628692 | 2 | 1185 | 134274314-134274315 |
| 456 | CYP11B1 | 8 | 0.99206349206349 | 12 | 1512 | 143956453-143956459, 143957128-143957132 |
| 457 | CYP11B2 | 8 | 0.96626984126984 | 51 | 1512 | 143993988-143993994, 143994029, 143994041, 143994069-143994081, 143994253, 143994279, 143994702, 143994724, 143994736, 143994806-143994807, 143994819, 143999018-143999038 |
| 458 | PLEC | 8 | 0.99530416221985 | 66 | 14055 | 144996241, 144996245-144996262, 144996374-144996382, 144997102-144997107, 144997133-144997153, 145003827-145003837 |
| 459 | GPT | 8 | 0.99932930918846 | 1 | 1491 | 145731680 |
| 460 | DOCK8 | 9 | 0.99857142857143 | 9 | 6300 | 452054-452056, 452059-452064 |
| 461 | JAK2 | 9 | 0.99235069137982 | 26 | 3399 | 5070013-5070019, 5077464, 5077500-5077505, 5077515-5077526 |
| 462 | VPS13A | 9 | 0.98404199475066 | 152 | 9525 | 79820229-79820245, 79824443-79824444, 79840842-79840845, 79841393-79841394, 79841399-79841403, 79841409, 79843134-79843138, 79896796-79896808, 79896834-79896842, 79908423-79908424, 79910593, 79910598-79910601, 79932522-79932564, 79932588, 79932600-79932614, 79934491, 79934525, 79938142-79938143, 79946961, 79975461, 79996892-79996904, 79996918-79996921, 79996924, 79996932-79996935 |
| 463 | AUH | 9 | 0.99803921568627 | 2 | 1020 | 94060291-94060292 |
| 464 | ROR2 | 9 | 0.99929378531073 | 2 | 2832 | 94486022, 94486025 |
| 465 | FOXE1 | 9 | 0.97147950089127 | 32 | 1122 | 100616510, 100616698-100616722, 100616725, 100616728-100616731, 100616735 |
| 466 | TGFBR1 | 9 | 0.97619047619048 | 36 | 1512 | 101867534-101867569 |
| 467 | INVS | 9 | 0.99968730456535 | 1 | 3198 | 103015343 |
| 468 | FKTN | 9 | 0.998556998557 | 2 | 1386 | 108337379, 108337382 |
| 469 | MUSK | 9 | 0.99961685823755 | 1 | 2610 | 113547817 |
| 470 | CDK5RAP2 | 9 | 0.99947201689546 | 3 | 5682 | 123199642-123199644 |
| 471 | NR5A1 | 9 | 0.9992784992785 | 1 | 1386 | 127245176 |
| 472 | LMX1B | 9 | 0.9964253798034 | 4 | 1119 | 129376859-129376861, 129456068 |
| 473 | STXBP1 | 9 | 0.99558498896247 | 8 | 1812 | 130425498-130425505 |
| 474 | SETX | 9 | 0.99962658700523 | 3 | 8034 | 135139887, 135139893-135139894 |
| 475 | CEL | 9 | 0.94671950682519 | 121 | 2271 | 135946755, 135946770, 135946785-135946811, 135946818-135946857, 135946866-135946872, 135946901-135946938, 135946950-135946956 |
| 476 | ADAMTS13 | 9 | 0.99813258636788 | 8 | 4284 | 136293787, 136302050-136302056 |
| 477 | COL5A1 | 9 | 0.99800616276962 | 11 | 5517 | 137534086-137534096 |
| 478 | LHX3 | 9 | 0.97601323407775 | 29 | 1209 | 139090800-139090805, 139090810-139090815, 139090868, 139090880, 139090891, 139094823-139094828, 139094834-139094841 |
| 479 | INPP5E | 9 | 0.99328165374677 | 13 | 1935 | 139333330-139333339, 139333343-139333345 |
| 480 | NOTCH1 | 9 | 0.9990871152843 | 7 | 7668 | 139440205-139440211 |
| 481 | AGPAT2 | 9 | 0.97729988052569 | 19 | 837 | 139581759-139581776, 139581787 |
| 482 | SLC34A3 | 9 | 0.99888888888889 | 2 | 1800 | 140127723, 140128625 |
| 483 | ARX | X | 0.99407933688573 | 10 | 1689 | 25031776-25031785 |
| 484 | RPGR | X | 0.96415148886962 | 124 | 3459 | 38145359, 38145371-38145376, 38145379-38145393, 38145396-38145397, 38145402-38145403, 38145411, 38145414-38145415, 38145421-38145424, 38145428-38145438, 38145441-38145454, 38145458-38145461, 38145464-38145474, 38145498-38145499, 38145502-38145503, 38145508, 38145511-38145516, 38145537, 38145544, 38145562-38145571, 38145576, 38145579, 38145585-38145602, 38145608-38145610, 38145613-38145617 |
| 485 | AR | X | 0.96815056098444 | 88 | 2763 | 66765161-66765221, 66766357-66766383 |
| 486 | MED12 | X | 0.99846954392409 | 10 | 6534 | 70338658, 70338661, 70361098-70361100, 70361112, 70361118, 70361125-70361127 |
| 487 | TAF1 | X | 0.9813445969729 | 106 | 5682 | 70586165-70586209, 70586220-70586225, 70586269-70586318, 70586331-70586335 |
| 488 | SLC16A2 | X | 0.99674267100977 | 6 | 1842 | 73641401-73641406 |
| 489 | BRWD3 | X | 0.99519319652431 | 26 | 5409 | 79964956-79964959, 79964971-79964977, 79965044-79965046, 79965059-79965061, 79991537-79991542, 79991565, 79991575, 80064964 |
| 490 | XIAP | X | 0.99665327978581 | 5 | 1494 | 123025089-123025090, 123025112-123025113, 123025125 |
| 491 | ZIC3 | X | 0.98148148148148 | 26 | 1404 | 136651124-136651149 |
| 492 | SOX3 | X | 0.99925428784489 | 1 | 1341 | 139586490 |
| 493 | SLC6A8 | X | 0.91090146750524 | 170 | 1908 | 152954030-152954046, 152954096-152954248 |
| 494 | ABCD1 | X | 0.99508489722967 | 11 | 2238 | 153008675-153008678, 153008981-153008987 |
| 495 | MECP2 | X | 0.95858383433534 | 62 | 1497 | 153363061-153363122 |
| Effect rank | Variant | Phase/ Zygosity | Allele freq | Impact | Evaluation | Summary / Info |
|---|---|---|---|---|---|---|
| 3 | PRKCH-V374I | homozygous | 0.015 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 2 | PCSK9-A53V | het unknown | 0.077 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | PCSK9-V474I | homozygous | 0.859 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | PCSK9-G670E | homozygous | 0.848 | Unknown benign | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | MTRR-I49M | homozygous | 0.313 | Recessive pathogenic | Low clinical importance, likely | This common variant (HapMap allele frequency of 31.3%) in a protein involved in folate (B9) and cobalamin (B12) metabolism and is often reported as "MTRR I22M" (an alternative transcript position). Mothers homozygous for this variant are associated with having around a increased chance of a child with Down syndrome (risk of 0.4%, average risk in population is 0.25%). Notably, age plays a far larger role in the rate of Down syndrome (risk is 4.5% for a mother 45-years-of-age), and it is unknown how this variant may combine with the effect of age. There are conflicting reports associating this variant with incidence of neural tube defects, possibly when combined with MTHFR A222V. |
| 2 | MTRR-S202L | het unknown | 0.285 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | MTRR-S258L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 2 | KCNJ11-V337I | homozygous | 0.761 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | KCNJ11-K23E | homozygous | 0.711 | Unknown protective | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | ABCC11-V648I | homozygous | 0.109 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.676 (possibly damaging) |
| 2 | ABCC11-G180R | homozygous | 0.323 | Unknown benign | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.992 (probably damaging) |
| 2 | APOB-S4338N | het unknown | 0.725 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | APOB-P2739L | het unknown | 0.346 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | APOB-I2313V | het unknown | 0.964 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | APOB-Y1422C | homozygous | 0.994 | Unknown benign | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | APOB-A618V | het unknown | 0.494 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | APOB-T194M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 2 | APOB-T98I | het unknown | 0.149 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | APOB-LAL12Del | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 2 | 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: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | NEFL-S472Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 2 | LOXL1-R141L | homozygous | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) | |
| 2 | 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 | SP110-G299R | homozygous | 0.822 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | SP110-E207K | het unknown | 0.087 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | SP110-S173L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 2 | SP110-A128V | het unknown | 0.078 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | SP110-W112R | homozygous | 0.945 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1.5 | SFTPA1-L50V | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1.5 | SFTPA1-R219W | het unknown | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) | |
| 1.5 | AURKA-I57V | homozygous | 0.814 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1.5 | AURKA-F31I | homozygous | 0.366 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1.5 | H6PD-R453Q | homozygous | 0.407 | Recessive pathogenic | Low clinical importance, uncertain | This common variant may have a small pathogenic effect by contributing to cortisone reductase deficiency (a rare abnormality) when homozygous and combined with a serious pathogenic variant. The same authors have tested and ruled out a contribution to polycystic ovary syndrome (similar phenotype, more common disease). |
| 1 | KRT4-G160GAGGFGAGFGTGGFG | homozygous | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | ACVRL1-R218W | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | C14orf184-E123Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | B3GNT6-L316Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | B3GNT6-L335Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | TRIM64-R162S | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown | |
| 1 | TRIM64-V238M | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | TRIM64-E242V | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | TRIM64-Q358R | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | TRIM64-Q405R | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown | |
| 1 | ROR2-V819I | homozygous | 0.798 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | ROR2-G695R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | ROR2-T245A | het unknown | 0.619 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | AK300656-R11* | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 1 | ABCA1-L1648V | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | ABCA1-K1587R | homozygous | 0.486 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | ABCA1-I883M | homozygous | 0.427 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | ABCA1-V825I | het unknown | 0.160 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | ABCA1-R219K | homozygous | 0.498 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | AK094914-K152N | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | AK094914-T33Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | OCA2-H615R | homozygous | 0.313 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | MS4A14-I56Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | MS4A14-N177Y | het unknown | 0.543 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.981 (probably damaging) |
| 1 | MS4A14-G584R | het unknown | 0.513 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 1 | MS4A14-Q612H | het unknown | 0.113 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.952 (probably damaging) |
| 1 | ZFYVE19-R48Shift | homozygous | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | ZFYVE19-S376A | homozygous | 0.814 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 1 | TJP1-I790V | homozygous | 0.094 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.984 (probably damaging) |
| 1 | RAI1-G90A | homozygous | 0.281 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | RAI1-P165T | homozygous | 0.542 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | PIK3R6-L609Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | C17orf103-C16Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 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 | MAN2B1-P669L | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.96 (probably damaging), Testable gene in GeneTests with associated GeneReview | |
| 1 | INSR-A2G | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | MYO5B-L1055LL | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | MYO5B-R918H | het unknown | 0.118 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | MYO5B-T126A | homozygous | 0.945 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | GUCY2D-A52S | homozygous | 0.360 | Recessive benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.026 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | GUCY2D-P701S | het unknown | 0.096 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.183 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | TP53-P72R | het unknown | 0.550 | Unknown pathogenic | Low clinical importance, uncertain | This is a common variant was first reported as a polymorphism. It has since had mixed associations with cancer: Storey et al. conclude a 7x *increased* risk of HPV cancer for homozygotes vs hets, but Jones et al. find a 1.98x *decreased* risk for colorectal cancer. This variant may have significant impact on particular cancers, but it is unclear what effect it has on the overall burden of cancer. |
| 1 | NPRL3-L489Shift | homozygous | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | MESP2-QGQGQGQG198Del | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | ADAM3A-L329Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ADAM3A-R215G | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | NR_027242-N339D | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | NR_027242-L114P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | NR_027242-Q97Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | NR_027242-L22P | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ZNF598-C725S | het unknown | 0.122 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | ZNF598-M637T | het unknown | 0.601 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 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 | FANCA-G809D | homozygous | 0.671 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | FANCA-P643A | homozygous | 0.103 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | FANCA-G501S | homozygous | 0.654 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | FANCA-A412V | homozygous | 0.093 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | FANCA-T266A | homozygous | 0.708 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | CYBA-V174A | het unknown | 0.417 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 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-R22G | homozygous | 0.569 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | ZFPM1-E444Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ZFPM1-L446Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | 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 | PLEKHA2-P389Shift | homozygous | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | F5-L1397F | het unknown | 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 | het unknown | 0.296 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | RHBG-G315R | het unknown | 0.550 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | RHBG-P424Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | RHBG-H428R | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | RNASEL-D541E | het unknown | 0.470 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | RNASEL-R462Q | het unknown | 0.208 | Complex/Other pathogenic | Low clinical importance, uncertain | Associated with increased risk of prostate cancer in individuals who already have a family history of prostate cancer, but studies have been unable to replicate this finding in sporadic (non-familial) prostate cancer cases. |
| 1 | EPHX1-R43T | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | EPHX1-Y113H | homozygous | 0.290 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 1 | MCEE-R143H | het unknown | 0.040 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.974 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | CYP1B1-V432L | homozygous | 0.547 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | C2orf71-S1225SS | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | C2orf71-T580M | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | C2orf71-K421R | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | FLG-R3738H | het unknown | 0.134 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.278 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | FLG-R3530S | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | FLG-V3179G | het unknown | 0.339 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | FLG-Q2717K | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | FLG-H2507Q | het unknown | 0.318 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | FLG-L2481S | het unknown | 0.222 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | FLG-K2444E | het unknown | 0.188 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | FLG-E2398Q | het unknown | 0.144 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.92 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | FLG-S2366T | het unknown | 0.125 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.967 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | FLG-Y2119H | het unknown | 0.119 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | FLG-R1891Q | het unknown | 0.061 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | FLG-A1805V | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | FLG-R1699C | het unknown | 0.428 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | FLG-R1684H | het unknown | 0.190 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | FLG-S1482Y | het unknown | 0.243 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | FLG-R1469H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | FLG-R1376G | het unknown | 0.170 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | FLG-R1360H | het unknown | 0.164 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | FLG-A1167G | het unknown | 0.425 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | FLG-G996R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | FLG-E755K | het unknown | 0.155 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | FLG-H519N | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | FLG-P478S | het unknown | 0.318 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | FLG-G444R | het unknown | 0.319 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | FLG-G332V | het unknown | 0.227 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | HRNR-C1414Y | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-S1023N | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | HRNR-S799T | het unknown | 0.569 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-R664Q | het unknown | 0.568 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-E549G | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 1 | HRNR-Y517C | het unknown | 0.185 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-G492R | het unknown | 0.588 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-E473G | homozygous | 0.951 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-G427D | het unknown | 0.357 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-Q376R | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-H273Q | het unknown | 0.383 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-R85H | het unknown | 0.553 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.078 (benign) |
| 1 | HRNR-M1Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | DEM1-V265Shift | homozygous | 0.008 | 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 | PADI6-V343Shift | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | CYP4A22-R126W | homozygous | 0.289 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | CYP4A22-G130S | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) | |
| 1 | CYP4A22-N152Y | homozygous | 0.790 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | CYP4A22-V185F | homozygous | 0.140 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.472 (possibly damaging) |
| 1 | CYP4A22-C231R | homozygous | 0.598 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | CYP4A22-L428P | homozygous | 0.297 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | CPT2-F352C | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | CPT2-V368I | homozygous | 0.477 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | AGL-R387Q | homozygous | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | DPYD-R29C | homozygous | 0.731 | Complex/Other pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | ALG6-S306F | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | EDAR-V370A | homozygous | 0.480 | Unknown benign | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.485 (possibly damaging) |
| 1 | TTN-R32018H | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-R29962H | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-I26820T | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-I25199V | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-P24785A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-T24045M | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-R22371C | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-A19840P | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-V19783I | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-T18827I | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-P17286L | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-R16903H | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-N16125D | homozygous | 0.469 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-V13780I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-I9278V | homozygous | 0.450 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-N7559S | homozygous | 0.231 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-S7181N | homozygous | 0.232 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-A7111E | homozygous | 0.421 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-E6900A | homozygous | 0.226 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-D6218H | homozygous | 0.233 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-V3816I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-S3419N | homozygous | 0.850 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-V3261M | homozygous | 0.840 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-S1295L | homozygous | 0.881 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-R328C | homozygous | 0.242 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-E190Shift | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-L8M | homozygous | 0.457 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-A11T | het unknown | 0.085 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-M18T | het unknown | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-F41S | homozygous | 0.544 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-Q57E | het unknown | 0.203 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-E63G | het unknown | 0.233 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-A68V | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQA1-RW70CL | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQA1-RW70CL | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQA1-EF73VL | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQA1-EF73VL | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQA1-S75R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQA1-SK75RQ | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQA1-K76R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQA1-G78R | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQA1-G79Del | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQA1-G79Del | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQA1-G84F | homozygous | 0.122 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-R87T | homozygous | 0.170 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-M89I | homozygous | 0.200 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-A92L | het unknown | 0.151 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-IM98SL | het unknown | 0.066 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-IM98SL | het unknown | 0.066 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-Y103S | homozygous | 0.544 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-T130I | het unknown | 0.151 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-Q152H | homozygous | 0.526 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-F238L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQA1-Q241R | homozygous | 0.877 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 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 | CUL7-Q813R | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | LRP11-P92R | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.988 (probably damaging) | |
| 1 | DCAF15-C482Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ZNF862-I178T | homozygous | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.991 (probably damaging) |
| 1 | KCP-D621V | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | KCP-K395E | homozygous | 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 | NSD1-V614L | homozygous | 0.216 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | NSD1-S726P | homozygous | 0.231 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.92 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 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 | CASR-R990G | homozygous | 0.199 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.939 (probably damaging), Testable gene in GeneTests |
| 1 | CASR-E1011Q | homozygous | 0.916 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | CCDC66-D5Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | CCDC66-Q383R | homozygous | 0.934 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | CCDC66-S606SS | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ZNF167-N494Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | EVC-Q74P | homozygous | 0.092 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests |
| 1 | EVC-Y258H | homozygous | 0.721 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests |
| 1 | EVC-T449K | het unknown | 0.871 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | WFS1-V333I | homozygous | 0.889 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | WFS1-R611H | homozygous | 0.442 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | NR_027127-W61* | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 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 | AX746903-T82Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | PTCHD3-V665Shift | homozygous | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | PTCHD3-I584M | homozygous | 0.963 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | PTCHD3-Q186K | homozygous | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.97 (probably damaging) |
| 1 | PTCHD3-A136W | het unknown | 0.015 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 1 | VSIG10L-Q860Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | VSIG10L-R592Q | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | VSIG10L-M356I | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | VSIG10L-N3T | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | SCARF2-DV772EL | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 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 | FAM83F-R436G | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.939 (probably damaging) | |
| 1 | TBX1-N397H | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | COL6A2-S399N | homozygous | 0.727 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | COL6A2-R680H | homozygous | 0.389 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | COL6A2-G935R | het unknown | 0.070 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.036 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | ZNF761-L47Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ZNF761-I122S | het unknown | 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 | 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 | 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-G425R | het unknown | 0.074 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.789 (possibly damaging), Testable gene in GeneTests |
| 1 | COL18A1-Q1195H | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | COL18A1-PGP1362Del | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | MAGEB6-R98H | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.766 (possibly damaging) | |
| 1 | MAGEB6-A100V | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.012 (benign) | |
| 1 | BC112980-K147Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | FAM58A-Q15Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests | |
| 1 | FAM58A-G4Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests | |
| 1 | PCDH11Y-V917F | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | PCDH11Y-N1012K | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown | |
| 1 | USP9Y-E65D | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.011 (benign), Testable gene in GeneTests with associated GeneReview | |
| 1 | TCEAL6-Q175Shift | homozygous | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | PCDH19-N1087H | homozygous | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | GATA1-R113L | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | DGKK-L1014Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | DGKK-PAPP41Del | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | FGD1-A37V | homozygous | 0.030 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | KRTAP7-1-I61S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | KRTAP7-1-S51P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | KRTAP7-1-Y17Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | HSH2D-S223Shift | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.75 | CDKN1A-S31R | het unknown | 0.271 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | BLMH-I443V | het unknown | 0.241 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | ANKK1-A239T | het unknown | 0.320 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.852 (probably damaging) |
| 0.75 | ANKK1-G442R | het unknown | 0.541 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | ANKK1-E713K | het unknown | 0.347 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.625 | CDAN1-E1009Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 0.625 | CDAN1-Q596R | het unknown | 0.498 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.625 | CDAN1-Q107L | het unknown | 0.175 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.625 | CHAT-V461M | homozygous | 0.927 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.625 | CHAT-R482Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | PRPH2-D338G | het unknown | 0.761 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PRPH2-R310K | homozygous | 0.943 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PRPH2-Q304E | het unknown | 0.877 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TULP1-K261N | homozygous | 0.805 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TULP1-T67R | homozygous | 0.877 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ITGB2-Q354H | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.543 (possibly damaging), Testable gene in GeneTests |
| 0.5 | NDUFS7-P23L | homozygous | 0.437 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | HLA-DQB1-V235I | homozygous | 0.544 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-S214N | homozygous | 0.333 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-R199H | het unknown | 0.192 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-A172T | het unknown | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-G157A | homozygous | 0.539 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-F41Y | homozygous | 0.789 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-S27T | homozygous | 0.206 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-D12G | homozygous | 0.395 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PGBD1-G112E | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.899 (probably damaging) |
| 0.5 | PGBD1-G244E | het unknown | 0.186 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PGBD1-M592I | het unknown | 0.175 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.027 (benign) |
| 0.5 | PGBD1-I678V | het unknown | 0.649 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HLA-H-D29A | het unknown | 0.071 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-H-P32Q | het unknown | 0.060 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-H-E34M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | HLA-H-E47K | het unknown | 0.061 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-H-R141Q | het unknown | 0.188 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-H-L145R | het unknown | 0.293 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-H-A147V | het unknown | 0.278 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-H-G181* | het unknown | 0.114 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Nonsense mutation, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-H-S182W | het unknown | 0.392 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-H-C238S | het unknown | 0.729 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-L-H17R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | HLA-L-I30V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | HLA-L-R38Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | HLA-L-A142V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | HLA-L-W144* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | HLA-L-C172Y | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | AGER-G82S | het unknown | 0.083 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.983 (probably damaging) |
| 0.5 | MICB-N75D | homozygous | 0.808 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MICB-R193* | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | MICB-T212I | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | MICB-T383A | het unknown | 0.799 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PKHD1-L1870V | homozygous | 0.905 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 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: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALDH5A1-G36R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | ALDH5A1-H180Y | homozygous | 0.334 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALDH5A1-P182L | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RSPH4A-R556H | homozygous | 0.203 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | RSPH4A-L589P | homozygous | 0.707 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ROS1-R167Q | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.983 (probably damaging) |
| 0.5 | LAMA2-P564Shift | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Frameshift, 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 | LAMA2-T2634A | het unknown | 0.097 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | KRTAP10-5-R268P | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | KRTAP10-5-Y247C | het unknown | 0.079 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | KRTAP10-5-V235L | het unknown | 0.110 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | KRTAP10-5-F183C | het unknown | 0.172 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | BCLAF1-Y730C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 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 | COL10A1-G545R | homozygous | 0.218 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.774 (possibly damaging), Testable gene in GeneTests |
| 0.5 | COL10A1-M27T | homozygous | 0.449 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PDSS2-R4P | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.62 (possibly damaging), Testable gene in GeneTests |
| 0.5 | PDSS2-F3L | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EYS-R2326Q | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | EYS-N1902I | homozygous | 0.316 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EYS-L1419S | homozygous | 0.780 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EYS-G631S | homozygous | 0.596 | 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: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | LMBRD1-D469E | homozygous | 0.393 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC17A5-V296I | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.173 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | AIM1-E1196A | homozygous | 0.935 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.015 (benign) |
| 0.5 | LCA5-G656D | het unknown | 0.377 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LCA5-D26A | het unknown | 0.172 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | LCA5-L24S | 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 | NHLRC1-P111L | het unknown | 0.250 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SYNE1-G8737S | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, 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-N4590S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 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-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 | SYNE1-S613F | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | OSMR-D553N | het unknown | 0.136 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.032 (benign) |
| 0.5 | OSMR-P936S | het unknown | 0.044 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.992 (probably damaging) |
| 0.5 | GHR-C440F | het unknown | 0.056 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.237 (possibly damaging), Testable gene in GeneTests |
| 0.5 | GHR-P579T | het unknown | 0.062 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | MOCS2-T50A | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.725 (possibly damaging), Testable gene in GeneTests |
| 0.5 | GPR98-L1093F | het unknown | 0.835 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-V1951I | het unknown | 0.820 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-P1987L | het unknown | 0.333 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.366 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-Y2232C | het unknown | 0.349 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.989 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-N2345S | het unknown | 0.304 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-V2432M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | GPR98-N2584S | het unknown | 0.825 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-E3471K | het unknown | 0.834 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-E3867K | het unknown | 0.356 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-E5344G | homozygous | 0.903 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-V5427M | homozygous | 0.918 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-V5876I | het unknown | 0.424 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.94 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | HEXB-L62S | homozygous | 0.978 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AMACR-E277K | homozygous | 0.724 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AMACR-L201S | homozygous | 0.738 | Unknown not reviewed | 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-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-I766L | het unknown | 0.404 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.026 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-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 | BBS12-R386Q | homozygous | 0.515 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FAT4-V986D | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | FAT4-D2826N | het unknown | 0.076 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.963 (probably damaging) |
| 0.5 | FAT4-G3524D | het unknown | 0.212 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | FAT4-S3873N | homozygous | 0.988 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FAT4-M4369V | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | FGA-T331A | homozygous | 0.355 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.306 (possibly damaging), Testable gene in GeneTests |
| 0.5 | PLIN5-R306W | het unknown | 0.026 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | PLIN5-C255R | het unknown | 0.888 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.031 (benign) |
| 0.5 | AGA-T149S | homozygous | 0.925 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PCSK1-S690T | het unknown | 0.218 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.061 (benign), Testable gene in GeneTests |
| 0.5 | PCSK1-Q665E | het unknown | 0.238 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ERAP2-P214L | het unknown | 0.042 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | SGCD-R96Q | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MSX2-M129T | homozygous | 0.716 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HK3-R364C | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.942 (probably damaging) |
| 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 | 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 | GM2A-A19T | het unknown | 0.106 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | GM2A-M69V | homozygous | 0.826 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 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 | 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 | homozygous | 0.714 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PRODH-R521Q | homozygous | 0.887 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PRODH-W185Q | het unknown | 0.111 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PRODH-W185Q | het unknown | 0.111 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PRODH-P19Q | homozygous | 0.562 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | IL17RA-P562Q | het unknown | 0.051 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | SPINK5-Q267R | homozygous | 0.475 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SPINK5-A335V | homozygous | 0.381 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SPINK5-S368N | homozygous | 0.363 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SPINK5-K420E | homozygous | 0.380 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SPINK5-R711Q | homozygous | 0.469 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SRA1-V110RL | homozygous | 0.360 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | 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 | NUDT1-V106M | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | DNAI1-V487G | het unknown | 0.087 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CA9-P96PGEEDLP | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | CA9-Q326R | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | TMC1-E81K | het unknown | 0.308 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TMC1-M486T | het unknown | 0.015 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SALL4-L507R | homozygous | 0.328 | Dominant not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.125 (benign), Testable gene in GeneTests with associated GeneReview |
| 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 | DOCK8-A22V | het unknown | 0.291 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.009 (benign), Testable gene in GeneTests |
| 0.5 | DOCK8-P97T | homozygous | 0.512 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests |
| 0.5 | RECQL4-R766Shift | homozygous | 0.278 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RECQL4-S92P | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CNGB3-T298P | het unknown | 0.681 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CNGB3-C234W | homozygous | 0.939 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TMEM67-I604V | homozygous | 0.710 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GRHL2-V415I | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.955 (probably damaging), Testable gene in GeneTests |
| 0.5 | CYP11B1-A386V | homozygous | 0.059 | Recessive benign | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CYP11B1-R43Q | homozygous | 0.223 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TRMT12-D195Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | TRMT12-D195E | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.015 (benign) |
| 0.5 | 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-R364H | homozygous | 0.968 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDK5RAP2-V1540L | homozygous | 0.714 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDK5RAP2-E289Q | homozygous | 0.801 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CUBN-S2717W | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CUBN-P2575R | het unknown | 0.070 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CUBN-Y2313F | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | CUBN-C2162Y | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CUBN-P1559S | het unknown | 0.565 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CUBN-P389T | het unknown | 0.513 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CUBN-F253S | homozygous | 0.801 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MYO3A-I348V | het unknown | 0.678 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MYO3A-V369I | het unknown | 0.642 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MYO3A-S956N | het unknown | 0.443 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MYO3A-T1284S | het unknown | 0.406 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.002 (benign), Testable gene in GeneTests |
| 0.5 | MYO3A-R1313S | homozygous | 0.620 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SAMD11-H78Y | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.987 (probably damaging) |
| 0.5 | ERCC6-R1230P | het unknown | 0.031 | Unknown benign | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ERCC6-G399D | homozygous | 0.246 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 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 | PIGT-R178Q | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | NET1-A529V | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SETX-S2612G | het unknown | 0.173 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 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 | homozygous | 0.242 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SURF1-D202H | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.978 (probably damaging), Testable gene in GeneTests |
| 0.5 | SLC34A3-R67H | het unknown | 0.049 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SLC34A3-G337S | het unknown | 0.040 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 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 | PITRM1-Q1037R | homozygous | 0.730 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PITRM1-P969L | het unknown | 0.055 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | PITRM1-Q516H | het unknown | 0.166 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | PITRM1-A397V | het unknown | 0.630 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PITRM1-I328V | het unknown | 0.635 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | EXD3-R810Q | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.973 (probably damaging) |
| 0.5 | EXD3-C545Y | het unknown | 0.570 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | EXD3-E322D | homozygous | 0.913 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | EXD3-R220Q | homozygous | 0.937 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | EXD3-A160T | het unknown | 0.868 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | EXD3-R20Q | homozygous | 0.677 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | 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 | CYP4F12-T16M | homozygous | 0.949 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CYP4F12-N76D | homozygous | 0.945 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CYP4F12-I90V | homozygous | 0.947 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CYP4F12-S139Shift | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | CYP4F12-C188R | homozygous | 0.603 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CYP4F12-S522G | homozygous | 0.601 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | EGFR-R521K | het unknown | 0.259 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | POR-A503V | het unknown | 0.227 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL1A2-P549A | homozygous | 0.907 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | BC032716-Y42Shift | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | PLOD3-T629M | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.955 (probably damaging) |
| 0.5 | PLOD3-R468G | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.578 (possibly damaging) |
| 0.5 | DDC-M17V | homozygous | 0.979 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | GLI3-P998L | homozygous | 0.444 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GLI3-T183A | het unknown | 0.663 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DGCR6L-N195K | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown | |
| 0.5 | DGCR6L-A117V | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | DNAH11-I192M | het unknown | 0.047 | 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 | homozygous | 0.452 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-M4172V | homozygous | 0.334 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-T4177I | het unknown | 0.359 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNA5-V207M | het unknown | 0.095 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.715 (possibly damaging), Testable gene in GeneTests |
| 0.5 | DFNA5-P142T | het unknown | 0.263 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.292 (possibly damaging), Testable gene in GeneTests |
| 0.5 | AOAH-A166T | het unknown | 0.035 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | HOXA1-R73H | homozygous | 0.743 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ASB15-P57L | homozygous | 0.747 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ASB15-R282* | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | ASB15-G357A | homozygous | 0.765 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 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 | SFTPC-T138N | homozygous | 0.172 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SFTPC-S186N | homozygous | 0.222 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CHRNA2-T125A | homozygous | 0.644 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CHRNA2-T22I | het unknown | 0.256 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SCARA3-R423Q | het unknown | 0.061 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | IFNGR2-Q64R | homozygous | 0.243 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.004 (benign), Testable gene in GeneTests |
| 0.5 | ESCO2-A80V | homozygous | 0.147 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ESCO2-T248A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | NAT2-R197Q | homozygous | 0.272 | Recessive pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NAT2-R268K | homozygous | 0.675 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ATP8B1-A1152T | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ATP6V0A4-V2A | homozygous | 0.680 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 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: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PDIA4-T173M | het unknown | 0.028 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.857 (probably damaging) |
| 0.5 | NOS3-D298E | homozygous | 0.844 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | TMPRSS3-I253V | homozygous | 0.282 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 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 | PRKG1-N267S | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 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 | NDUFA7-P66A | het unknown | 0.029 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.809 (possibly damaging) |
| 0.5 | FCRL3-N721S | het unknown | 0.049 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.008 (benign) |
| 0.5 | FCRL3-D231H | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) |
| 0.5 | FCRL3-N28D | homozygous | 0.533 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PPOX-R304H | het unknown | 0.059 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | KCNJ9-A366V | het unknown | 0.018 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | FLG2-G2055R | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.979 (probably damaging) |
| 0.5 | FLG2-C298S | het unknown | 0.149 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DMD-R2937Q | homozygous | 0.899 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DMD-D882G | homozygous | 0.727 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PTPN22-W620R | homozygous | 0.970 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 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 | ANKRD35-C194R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | ANKRD35-P428S | het unknown | 0.570 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.004 (benign) |
| 0.5 | ANKRD35-R592Q | het unknown | 0.181 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.06 (benign) |
| 0.5 | ANKRD35-E661Q | het unknown | 0.317 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.08 (benign) |
| 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: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | PI4KB-F386Shift | het unknown | 0.020 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | PI4KB-I99S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | KAL1-V534I | homozygous | 0.543 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ARSE-G424S | homozygous | 0.543 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | AGT-M268T | homozygous | 0.733 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CAPN9-A102V | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 1.0 (probably damaging) |
| 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 | OTOF-A53V | het unknown | 0.058 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.01 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | TPO-A373S | het unknown | 0.188 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | TPO-S398T | homozygous | 0.684 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.988 (probably damaging), Testable gene in GeneTests |
| 0.5 | TPO-T725P | het unknown | 0.524 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TPO-V847A | het unknown | 0.674 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | LBR-S154N | homozygous | 0.713 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | USH2A-M3868V | het unknown | 0.131 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-E3411A | homozygous | 0.638 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-I2169T | homozygous | 0.575 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-R1486K | homozygous | 0.646 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-A125T | homozygous | 0.777 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HMCN1-I2418T | het unknown | 0.553 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests |
| 0.5 | HMCN1-E2893G | het unknown | 0.617 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.91 (probably damaging), Testable gene in GeneTests |
| 0.5 | HMCN1-Q4437R | het unknown | 0.547 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests |
| 0.5 | HMCN1-H5244Q | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.435 (possibly damaging), 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: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ASPM-Y2494H | homozygous | 0.992 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 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-Q171H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | IRF6-V274I | homozygous | 0.172 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.54 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | LAMB3-A926D | het unknown | 0.107 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.27 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | LAMB3-N690S | het unknown | 0.120 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | LAMB3-V527M | homozygous | 0.298 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.016 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GSTM1-S210T | homozygous | 0.589 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | GNAT2-L107I | het unknown | 0.070 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.704 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | PINK1-A340T | homozygous | 0.105 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PINK1-N521T | homozygous | 0.289 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LDLRAP1-S202P | homozygous | 0.473 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.803 (possibly damaging), Testable gene in GeneTests |
| 0.5 | COL16A1-P758A | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | COL16A1-G745S | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | COL16A1-T62K | het unknown | 0.382 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.889 (probably damaging) |
| 0.5 | COL8A2-T502M | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | SPOCD1-P189L | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.981 (probably damaging) |
| 0.5 | ILVBL-A192V | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | CLCNKB-R27L | het unknown | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CLCNKB-A214G | homozygous | 0.815 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CLCNKB-A287V | homozygous | 0.820 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CLCNKB-M562T | homozygous | 0.856 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CLCNKB-K578E | homozygous | 0.748 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AGRN-T258I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | AGRN-R552C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | AGRN-E728V | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests |
| 0.5 | AGRN-Q852R | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.08 (benign), Testable gene in GeneTests |
| 0.5 | AGRN-S1009T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | TTLL10-V249A | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | TTLL10-S448N | het unknown | 0.220 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TTLL10-G578D | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.257 (possibly damaging) | |
| 0.5 | CALML6-R29C | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) |
| 0.5 | CLCNKA-R83G | homozygous | 0.653 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CLCNKA-A447T | homozygous | 0.688 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MTHFR-A222V | het unknown | 0.250 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.858 (probably damaging), Testable gene in GeneTests |
| 0.5 | EPHA10-F281I | het unknown | 0.363 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | EPHA10-T220K | het unknown | 0.040 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | EPHA10-K151T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | CACNA1A-H2219Del | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | CACNA1A-A21V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | LEPR-K109R | homozygous | 0.332 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.026 (benign), Testable gene in GeneTests |
| 0.5 | LEPR-Q223R | homozygous | 0.569 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.484 (possibly damaging), Testable gene in GeneTests |
| 0.5 | FBXL12-M326I | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.966 (probably damaging) |
| 0.5 | ZNF559-D18G | het unknown | 0.055 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | ZNF559-R345Q | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.953 (probably damaging) | |
| 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 | homozygous | 0.479 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DBT-S384G | homozygous | 0.869 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL5A3-A1488P | homozygous | 0.382 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | COL5A3-V1428M | het unknown | 0.243 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | COL5A3-R1207P | het unknown | 0.556 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | COL5A3-P1125S | het unknown | 0.167 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | COL5A3-R1122H | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | COL5A3-R1042P | het unknown | 0.399 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.009 (benign) |
| 0.5 | COL5A3-R322G | homozygous | 0.925 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SLC16A2-S107P | homozygous | 0.444 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLFNL1-V344A | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.981 (probably damaging) |
| 0.5 | SLFNL1-R144T | het unknown | 0.163 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | POMGNT1-M623V | homozygous | 0.878 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ATP7A-E1350K | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TMEM61-E40K | het unknown | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.955 (probably damaging) |
| 0.5 | FAM151A-G546D | het unknown | 0.086 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.625 (possibly damaging) |
| 0.5 | FAM151A-G526A | het unknown | 0.157 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FAM151A-A416V | het unknown | 0.261 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | ALK-D1529E | homozygous | 0.606 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALK-K1491R | homozygous | 0.405 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALK-I1461V | homozygous | 0.982 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CYP2D6-C296R | homozygous | 0.649 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CYP2D6-P34S | homozygous | 0.224 | Complex/Other pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SLC41A3-L501Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | SLC41A3-T62A | homozygous | 0.982 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PHC3-S403* | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | PHC3-Q402L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | MCCC1-H464P | homozygous | 0.408 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | VWA5B2-G90S | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown | |
| 0.5 | VWA5B2-P200S | het unknown | 0.205 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | VWA5B2-R721G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 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 | SIDT1-V78M | het unknown | 0.050 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.96 (probably damaging) |
| 0.5 | NR_015394-G45W | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | NR_015394-F74S | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | NR_015394-T113Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | SCN5A-H558R | het unknown | 0.215 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SCN5A-R513C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | ULK4-V851I | het unknown | 0.302 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ULK4-L844M | het unknown | 0.302 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ULK4-S640A | het unknown | 0.876 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ULK4-K569R | het unknown | 0.198 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.236 (possibly damaging) |
| 0.5 | ULK4-A542T | het unknown | 0.603 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ULK4-S417P | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.952 (probably damaging) |
| 0.5 | ULK4-I224V | het unknown | 0.562 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ULK4-K39R | het unknown | 0.591 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.031 (benign) |
| 0.5 | HPS4-Q620H | homozygous | 0.806 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | HPS4-H601Y | homozygous | 0.807 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HPS4-V547M | homozygous | 0.780 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HPS4-E224G | homozygous | 0.779 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GBE1-I334V | homozygous | 0.979 | 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 | IDUA-H33Q | homozygous | 0.750 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DOK7-R38G | het unknown | 0.208 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DOK7-R38G | het unknown | 0.208 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DOK7-G461D | het unknown | 0.128 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.565 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ADH1B-H48R | homozygous | 0.678 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MANBA-T701M | homozygous | 0.554 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TET2-P29R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) | |
| 0.5 | CFI-T300A | homozygous | 0.957 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HADH-L86P | homozygous | 0.859 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | UNC5C-A841T | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | UGT2B7-Y268H | homozygous | 0.727 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NR_027052-R29H | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | NR_027052-T53Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | NR_027052-Y63N | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 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 | SLC2A9-P350L | het unknown | 0.232 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 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 | TLR6-S249P | homozygous | 0.855 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TLR1-S602I | homozygous | 0.727 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 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 | XPC-A499V | het unknown | 0.188 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | XPC-R240C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 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: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TMEM43-K168N | het unknown | 0.335 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.064 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | TMEM43-M179T | homozygous | 0.487 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | IL1F5-N47S | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | CFC1-W78R | homozygous | 0.966 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | LCT-I362V | homozygous | 0.944 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | LCT-V219I | het unknown | 0.426 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 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 | het unknown | 0.691 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-R4389T | het unknown | 0.724 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-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 | homozygous | 0.526 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-I2239M | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 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-V1479I | homozygous | 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: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-Y773C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | TNFAIP6-Q144R | het unknown | 0.197 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TNFAIP6-M225I | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | STXBP2-I526V | homozygous | 0.725 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | EIF2AK3-A704S | homozygous | 0.756 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EIF2AK3-Q166R | homozygous | 0.690 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ABCG8-Y54C | het unknown | 0.431 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.01 (benign), Testable gene in GeneTests |
| 0.5 | ABCG8-T400K | het unknown | 0.225 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.157 (benign), Testable gene in GeneTests |
| 0.5 | ABCG8-V632A | homozygous | 0.908 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | LHCGR-N312S | homozygous | 0.573 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CU012959-R95Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 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: 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: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MPHOSPH10-S41Y | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.418 (possibly damaging) |
| 0.5 | MPHOSPH10-E69A | het unknown | 0.344 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.668 (possibly damaging) |
| 0.5 | MPHOSPH10-N154S | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | MPHOSPH10-E229D | het unknown | 0.347 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MPHOSPH10-L425M | het unknown | 0.002 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.96 (probably damaging) |
| 0.5 | SCN2A-R19K | het unknown | 0.077 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.956 (probably damaging), Testable gene in GeneTests |
| 0.5 | SCN1A-A1056T | homozygous | 0.806 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCA12-S777T | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | OBSL1-R1767Q | homozygous | 0.491 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | OBSL1-Q1578R | homozygous | 0.968 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | OBSL1-E1365D | het unknown | 0.723 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | OBSL1-R994H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 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 | COL4A4-S1400P | homozygous | 0.504 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A4-V1327M | homozygous | 0.464 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A4-P1004L | homozygous | 0.528 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A4-P482S | homozygous | 0.493 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | AGXT-N22S | het unknown | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | AGXT-A186V | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.042 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | AGXT-R197Q | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | AGXT-K234R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | AGXT-I340M | het unknown | 0.096 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 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: 3 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 | COL4A3-P574L | het unknown | 0.358 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALS2-V368M | homozygous | 0.869 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CASP8-K14R | homozygous | 0.640 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SCN9A-D1908G | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SCN9A-W1150R | homozygous | 0.896 | Dominant benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCB11-V444A | homozygous | 0.606 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEUROD1-T45A | homozygous | 0.754 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | DNAH7-L3319P | homozygous | 0.914 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DNAH7-I1131T | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | DNAH7-R545C | het unknown | 0.498 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.02 (benign) |
| 0.5 | COL3A1-A698T | homozygous | 0.181 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL3A1-H1353Q | homozygous | 0.990 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-R171S | homozygous | 0.865 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-D314H | homozygous | 0.648 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-D392G | homozygous | 0.979 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-A761V | het unknown | 0.504 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | KRT83-H493Y | homozygous | 0.791 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | KRT83-I279M | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | KRT83-R149C | het unknown | 0.141 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 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 | LILRA1-T40P | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.011 (benign) |
| 0.5 | LILRA1-H164Y | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.898 (probably damaging) |
| 0.5 | PRKCG-I348S | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ZNF480-C3Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | TSHR-E727D | homozygous | 0.895 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ESRRB-P386S | het unknown | 0.058 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.069 (benign), Testable gene in GeneTests |
| 0.5 | DDHD1-G112GGG | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | DDHD1-G106A | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging) | |
| 0.5 | KIR3DL3-N56K | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | KIR3DL3-R149S | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown | |
| 0.5 | KIR3DL3-V168I | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | KIR3DL3-N290T | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | SYNE2-M1969T | homozygous | 0.637 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-A2284V | homozygous | 0.637 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-S2359N | homozygous | 0.676 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-A2395T | homozygous | 0.835 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SYNE2-S2802G | homozygous | 0.864 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.012 (benign), Testable gene in GeneTests |
| 0.5 | SYNE2-I2942V | homozygous | 0.622 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SYNE2-D3253H | homozygous | 0.684 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-H3309R | homozygous | 0.647 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | SYNE2-Q3612R | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.965 (probably damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-L5186M | homozygous | 0.708 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 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 | ZFYVE26-N1891S | homozygous | 0.900 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TGM7-V515L | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.012 (benign) |
| 0.5 | TGM7-G241E | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (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 | CSPG4-R619Q | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.939 (probably damaging) |
| 0.5 | CSPG4-R82H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | CTDP1-T340M | het unknown | 0.085 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CTDP1-AA489GP | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | MRPL28-H27Y | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) | |
| 0.5 | PLA2G4C-S203P | het unknown | 0.673 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PLA2G4C-P151L | het unknown | 0.046 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | PLA2G4C-I143V | het unknown | 0.383 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FPR1-E346A | homozygous | 0.800 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FPR1-N192K | homozygous | 0.516 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FPR1-V101L | het unknown | 0.336 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FPR1-L97M | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | FPR1-I11T | homozygous | 0.831 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HEXA-I436V | homozygous | 0.748 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC12A1-A737V | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SLC12A1-V958A | homozygous | 0.990 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 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-W39R | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.283 (possibly damaging), Testable gene in GeneTests |
| 0.5 | NR2E3-E121K | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | NR2E3-E140G | het unknown | 0.093 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | NR2E3-M163T | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | NR2E3-T318Shift | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift, Testable gene in GeneTests |
| 0.5 | ZNF609-N1240Y | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | ZNF609-H1241D | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | FANCM-S175F | het unknown | 0.242 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FANCM-V878L | het unknown | 0.268 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FANCM-I1460V | het unknown | 0.078 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FANCM-P1498L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | FANCM-P1812A | het unknown | 0.062 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.958 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | PCDH15-S1685L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | PCDH15-R1611S | 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 | WDR66-E65EEKEEE | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | WDR66-V307I | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | WDR66-L650F | het unknown | 0.332 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | WDR66-V870L | het unknown | 0.269 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MLXIP-R73P | het unknown | 0.014 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | NCOR2-A2496T | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | NCOR2-S2311G | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | NCOR2-A1706T | het unknown | 0.136 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SGCG-N287S | homozygous | 0.843 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HPD-T33A | homozygous | 0.884 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HNF1A-V380D | het unknown | 0.061 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HNF1A-S487N | homozygous | 0.301 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HNF1A-S574G | homozygous | 0.976 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ZSCAN5B-V208I | het unknown | 0.490 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.07 (benign) |
| 0.5 | ZSCAN5B-P187S | het unknown | 0.309 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.996 (probably damaging) |
| 0.5 | ZSCAN5B-S8L | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.97 (probably damaging) | |
| 0.5 | GPR84-Y370H | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | TMCC3-D90N | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | TMCC3-Y16D | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | SH2B3-P242S | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.983 (probably damaging) |
| 0.5 | SH2B3-W262R | homozygous | 0.768 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CCDC63-Y303F | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.996 (probably damaging) |
| 0.5 | SACS-V3369A | homozygous | 0.244 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.769 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CENPJ-M21V | het unknown | 0.154 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 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 | OR4K1-D84V | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.996 (probably damaging) |
| 0.5 | OR4K1-R89H | het unknown | 0.306 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | OR4K1-R138Q | het unknown | 0.005 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | OR4K1-R304H | het unknown | 0.510 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 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: 3 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: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TEP1-R1055C | het unknown | 0.631 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TEP1-N307K | het unknown | 0.369 | 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: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC22A17-M372V | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) | |
| 0.5 | COL4A1-T555P | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A1-V7L | homozygous | 0.211 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ARL11-P131L | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.895 (probably damaging) |
| 0.5 | CSNK1A1L-R170S | het unknown | 0.091 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.9 (probably damaging) |
| 0.5 | CSNK1A1L-D42E | het unknown | 0.614 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FREM2-S745P | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | FREM2-R1668H | homozygous | 0.123 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.762 (possibly damaging), Testable gene in GeneTests |
| 0.5 | FREM2-T2326I | homozygous | 0.768 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SLC25A15-I254L | homozygous | 0.325 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SUCLA2-S199T | homozygous | 0.722 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | EPSTI1-E395Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | PNMAL2-A599S | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown | |
| 0.5 | PNMAL2-G570GRG | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | PNMAL2-V401I | het unknown | 0.119 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.445 (possibly damaging) |
| 0.5 | PNMAL2-G163S | het unknown | 0.081 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.929 (probably damaging) |
| 0.5 | PNMAL2-G163S | het unknown | 0.081 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.929 (probably damaging) |
| 0.5 | C16orf90-S71Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | C16orf90-G66Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | AP1S2-T35A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | AP1S2-R29P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | BRIP1-S919P | homozygous | 0.652 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | BRIP1-A144T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | GH1-T3A | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SCN4A-N1376D | homozygous | 0.604 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SCN4A-S524G | homozygous | 0.938 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL1A1-T1075A | homozygous | 0.961 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 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-R267C | het unknown | 0.100 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | NPEPPS-G322D | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging) | |
| 0.5 | SLC6A4-K605N | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.588 (possibly damaging), Testable gene in GeneTests |
| 0.5 | SLC6A4-E494D | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | MYO19-N176S | het unknown | 0.063 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | MYO19-N6S | het unknown | 0.070 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.486 (possibly damaging) |
| 0.5 | KRT13-T298A | homozygous | 0.835 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | KRT13-A187V | het unknown | 0.715 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | KRT13-A146G | het unknown | 0.054 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MAPT-Y441H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | MAPT-GT539AA | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | KRT14-C63Y | homozygous | 0.976 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COG1-D205N | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | COG1-N392S | homozygous | 0.536 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TSEN54-E4D | homozygous | 0.675 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TSEN54-K347N | homozygous | 0.430 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.968 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | TSEN54-A437V | homozygous | 0.515 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), 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 | LAMA3-S3118N | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DSC3-R102K | het unknown | 0.479 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DSC3-S78T | het unknown | 0.478 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.314 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DSC3-A28D | het unknown | 0.036 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.067 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DSG3-V509M | het unknown | 0.042 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.697 (possibly damaging) |
| 0.5 | DSG3-T912A | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | NCAN-S381P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | NCAN-S838N | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.867 (probably damaging) |
| 0.5 | NPC1-R1266Q | homozygous | 0.144 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | NPC1-I858V | homozygous | 0.480 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.061 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | NPC1-M642I | homozygous | 0.863 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TGIF1-P292L | het unknown | 0.073 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | UNC13D-K867E | homozygous | 0.596 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | UNC13D-G863D | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | GAA-H199R | het unknown | 0.574 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GAA-R223H | het unknown | 0.606 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GAA-E689K | het unknown | 0.148 | Complex/Other benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GAA-V780I | het unknown | 0.720 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CARD14-D176H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | CARD14-R547S | het unknown | 0.418 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CARD14-M752Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | SLC38A10-E676D | het unknown | 0.030 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.92 (probably damaging) |
| 0.5 | SLC38A10-K559R | het unknown | 0.052 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.813 (possibly damaging) |
| 0.5 | SGSH-R456H | homozygous | 0.302 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MAP2K3-P40T | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.968 (probably damaging) |
| 0.5 | MAP2K3-R55T | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MAP2K3-R94L | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.992 (probably damaging) |
| 0.5 | MAP2K3-R96W | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | MAP2K3-Q102* | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Nonsense mutation |
| 0.5 | MAP2K3-L215W | het unknown | 0.429 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | MAP2K3-T222M | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) | |
| 0.5 | MAP2K3-R293H | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.338 (possibly damaging) |
| 0.5 | MAP2K3-V339M | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.815 (possibly damaging) | |
| 0.5 | MYO15A-A595T | homozygous | 0.557 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MYO15A-W718G | homozygous | 0.100 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MYO15A-P1009H | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MYO15A-C1977R | homozygous | 0.746 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MYO15A-G2018R | het unknown | 0.223 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MYO15A-Y2682F | het unknown | 0.215 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | COQ9-L209V | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.303 (possibly damaging), Testable gene in GeneTests |
| 0.5 | GPR56-S281R | homozygous | 0.750 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TK2-P33A | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TK2-K30R | het unknown | 0.270 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | RANBP10-A570Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 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 | SALL1-V1275I | homozygous | 0.983 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ATF7IP2-T62Del | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | ATF7IP2-I360K | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | ATF7IP2-T682M | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | ABCC6-M848V | homozygous | 0.954 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NM_022097-D128Y | het unknown | 0.013 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | ZNF646-E327G | homozygous | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF646-R1318Q | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | CD19-L174V | homozygous | 0.876 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DUS2L-R440W | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.969 (probably damaging) |
| 0.5 | NQO1-P187S | homozygous | 0.283 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.215 (possibly damaging) |
| 0.5 | NEURL4-R1406H | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.912 (probably damaging) |
| 0.5 | NEURL4-Q1019H | het unknown | 0.213 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.6 (possibly damaging) |
| 0.5 | NEURL4-SG26EE | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | ZNF224-M118V | homozygous | 0.793 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF224-H162L | homozygous | 0.780 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.262 (possibly damaging) |
| 0.5 | ZNF224-T177M | het unknown | 0.129 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | ZNF224-D599N | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | ZNF224-K640E | homozygous | 0.593 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PRX-A1141V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | PRX-G1132R | homozygous | 0.978 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PRX-F936S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | TYROBP-V55L | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MFSD6L-P214T | homozygous | 0.241 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.251 (possibly damaging) |
| 0.5 | MFSD6L-L85I | het unknown | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.914 (probably damaging) |
| 0.5 | AIPL1-D90H | homozygous | 0.210 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.029 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CTNS-T260I | homozygous | 0.825 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 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 | CLEC18B-D430N | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) | |
| 0.5 | SIX5-P635S | het unknown | 0.533 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SIX5-L556V | het unknown | 0.833 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ACSF3-L2P | het unknown | 0.600 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ACSF3-A17P | het unknown | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | ACSF3-V372M | het unknown | 0.618 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CEACAM20-D484Shift | homozygous | 0.063 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift |
| 0.5 | CEACAM20-Y470C | het unknown | 0.108 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CEACAM20-S355L | het unknown | 0.046 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | CDH15-Y788* | het unknown | 0.082 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | PCK2-Q121P | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SLCO1B3-S112A | homozygous | 0.646 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SLCO1B3-M233I | homozygous | 0.659 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.131 (benign) |
| 0.5 | WNK1-T1056P | homozygous | 0.838 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | WNK1-C1506S | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | WNK1-M1808I | het unknown | 0.431 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FAM86C-A7S | het unknown | 0.002 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.195 (benign) |
| 0.5 | FAM86C-R30P | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.914 (probably damaging) | |
| 0.5 | FAM86C-V70A | het unknown | 0.446 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | COL17A1-M703V | homozygous | 0.672 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL17A1-G428S | homozygous | 0.771 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL17A1-T210M | homozygous | 0.557 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ARAP1-V1408M | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | CHGB-R178Q | het unknown | 0.401 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | CHGB-N200H | het unknown | 0.155 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.947 (probably damaging) |
| 0.5 | CHGB-T243A | homozygous | 0.893 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CHGB-R258Q | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | CHGB-A353G | het unknown | 0.519 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.933 (probably damaging) |
| 0.5 | CHGB-P413L | het unknown | 0.168 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | VWF-G2705R | het unknown | 0.047 | Unknown benign | Insufficiently evaluated | Prioritization score: 5 Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | VWF-D1472H | het unknown | 0.312 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | VWF-T1381A | homozygous | 0.754 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | VWF-Q852R | homozygous | 0.904 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | VWF-T789A | het unknown | 0.355 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | VWF-H484R | het unknown | 0.498 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.83 (possibly damaging), 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 | IGHMBP2-L201S | homozygous | 0.650 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | IGHMBP2-T671A | het unknown | 0.203 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | IGHMBP2-T879K | het unknown | 0.185 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CLECL1-S52Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | ABCC2-Y39F | homozygous | 0.990 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SLC6A5-G102S | homozygous | 0.420 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC6A5-F124S | homozygous | 0.803 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC6A5-A162G | homozygous | 0.997 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CLSTN3-R483Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | ABCC8-A1369S | homozygous | 0.755 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | AX746750-S137Shift | het unknown | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | SNX19-L878R | homozygous | 0.808 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SNX19-N753S | homozygous | 0.617 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SNX19-L618F | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SNX19-P480L | het unknown | 0.151 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.977 (probably damaging) |
| 0.5 | SNX19-S407G | het unknown | 0.202 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SNX19-D396E | het unknown | 0.151 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SNX19-G381S | het unknown | 0.151 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | SNX19-V361L | homozygous | 0.671 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HABP2-T50M | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | ATM-D1853N | het unknown | 0.066 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ATM-N1983S | homozygous | 0.991 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ATM-D2372V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | ALG9-V289I | homozygous | 0.332 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.907 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | TH-V108M | homozygous | 0.416 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | AMOTL1-G871Shift | het unknown | 0.026 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | ABCA7-E188G | het unknown | 0.307 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.239 (possibly damaging) |
| 0.5 | ABCA7-R463H | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.975 (probably damaging) |
| 0.5 | ABCA7-N718T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | ABCA7-D964E | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | ABCA7-R1349Q | het unknown | 0.412 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ABCA7-G1527A | homozygous | 0.800 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ABCA7-Q1686R | het unknown | 0.073 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.486 (possibly damaging) |
| 0.5 | ABCA7-A2045S | het unknown | 0.746 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | ABCA7-F2071C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | H19-G355R | homozygous | 0.359 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | H19-V94I | homozygous | 0.361 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | H19-W38R | homozygous | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRDD-V806M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | LRDD-T139S | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
| 0.5 | ARMS2-R38* | het unknown | 0.124 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Nonsense mutation, Testable gene in GeneTests |
| 0.5 | ARMS2-A69S | het unknown | 0.294 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SMPD1-AL48Del | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | SMPD1-AL48Del | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | SMPD1-G508R | het unknown | 0.151 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 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 | DPAGT1-I393V | homozygous | 0.431 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PANK2-G126A | homozygous | 0.917 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ADRB1-S49G | het unknown | 0.003 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | DLAT-A43V | homozygous | 0.357 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | DLAT-V318A | homozygous | 0.587 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | DLAT-D451N | homozygous | 0.327 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CALHM1-L86P | homozygous | 1.000 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SLCO1B1-N130D | homozygous | 0.663 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | LIPM-W18R | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.985 (probably damaging) |
| 0.5 | LRRK2-R50H | homozygous | 0.927 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | AVPI1-A41G | het unknown | 0.486 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | AVPI1-L36R | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.924 (probably damaging) |
| 0.5 | AIP-Q228K | homozygous | 0.732 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AIP-Q307R | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ALX4-P102S | het unknown | 0.217 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALX4-R35T | het unknown | 0.393 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ROM1-G118A | homozygous | 0.931 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.008 (benign), Testable gene in GeneTests |
| 0.5 | MYOF-R1783Q | het unknown | 0.042 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | PEX16-V116I | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | BMPR1A-P2T | homozygous | 0.549 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | BMPR1A-R152Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 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 | COL2A1-T9S | homozygous | 0.598 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-G488A | het unknown | 0.180 | 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-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 | RAG1-E193K | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | RAG1-H249R | homozygous | 0.615 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | RAG1-K820R | het unknown | 0.239 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.014 (benign), Testable gene in GeneTests |
| 0.5 | MADD-V751M | homozygous | 0.315 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SFTPA2-A91P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | SFTPA2-T9N | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown | |
| 0.5 | TCIRG1-L122Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | TCIRG1-H123L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | ZFYVE27-V82I | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ZFYVE27-G138V | het unknown | 0.720 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.375 | MYO7A-N1586S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.375 | MYO7A-S1666C | het unknown | 0.610 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | MYO7A-L1954I | het unknown | 0.552 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | TNXB-T2649M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.375 | TNXB-G2518E | het unknown | 0.658 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | TNXB-H1161R | het unknown | 0.568 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | CPN2-V536M | het unknown | 0.262 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.935 (probably damaging), Testable gene in GeneTests |
| 0.375 | CPN2-Q509R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.375 | CPN2-A305T | het unknown | 0.359 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests |
| 0.375 | TG-S734A | het unknown | 0.698 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.375 | TG-P1012L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.375 | TG-M1028V | het unknown | 0.696 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.375 | TG-D1312G | het unknown | 0.344 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.375 | TG-D1838N | het unknown | 0.304 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.061 (benign), Testable gene in GeneTests |
| 0.375 | TG-R1999W | het unknown | 0.372 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.375 | ADAMTS13-R73RQR | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.375 | ADAMTS13-Q448E | het unknown | 0.211 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SCO2-R20P | het unknown | 0.690 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | CD3EAP-Q504K | het unknown | 0.284 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.25 | CASP10-L522I | het unknown | 0.309 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | PKD1L2-M2313I | het unknown | 0.883 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-S2207R | homozygous | 0.985 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-S2137F | homozygous | 0.870 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-L2117I | het unknown | 0.248 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-Y2079Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | PKD1L2-A2054T | het unknown | 0.185 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-Y2048S | het unknown | 0.169 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-Q2035R | het unknown | 0.210 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-M1866V | homozygous | 0.957 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-G1847R | het unknown | 0.373 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-P1776H | het unknown | 0.086 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-S1774P | het unknown | 0.086 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-Q1701H | het unknown | 0.294 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-T1446K | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | PKD1L2-R1421S | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | PKD1L2-N1330D | homozygous | 0.991 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-S1326P | homozygous | 0.734 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-T1048A | homozygous | 0.679 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-M1042V | homozygous | 0.461 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-R1040* | homozygous | 0.407 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Nonsense mutation |
| 0.25 | PKD1L2-L1036P | homozygous | 0.407 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | PKD1L2-A863V | het unknown | 0.218 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-L711P | homozygous | 0.805 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-P512L | homozygous | 0.751 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-K416Q | homozygous | 0.788 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-P301A | homozygous | 0.524 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-R252W | homozygous | 0.560 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-N236Shift | homozygous | 0.389 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift |
| 0.25 | PKD1L2-E221G | homozygous | 0.708 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-L173S | het unknown | 0.419 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-Q120L | het unknown | 0.451 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-K77N | het unknown | 0.319 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-W73R | het unknown | 0.549 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-V20A | het unknown | 0.548 | 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: 3 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | F2-T165M | het unknown | 0.280 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.346 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | SLX4-P1122L | het unknown | 0.288 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | LRRC50-K393R | het unknown | 0.321 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.683 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | LRRC50-P502L | het unknown | 0.272 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | LRRC50-L633S | het unknown | 0.261 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | LRRC50-L659V | het unknown | 0.112 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | LRRC50-L659P | het unknown | 0.352 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | LRRC50-S675T | het unknown | 0.363 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | CERKL-R105W | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | CERKL-D81A | het unknown | 0.172 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.759 (possibly damaging), Testable gene in GeneTests |
| 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 | PNPLA3-G115C | het unknown | 0.120 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PNPLA3-I148M | het unknown | 0.268 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.778 (possibly damaging) |
| 0.25 | PNPLA3-K434E | homozygous | 0.801 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ANKRD36-S1022F | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | ANKRD36-P1126Q | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | ANKRD36-S1154Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | ANKRD36-V1157M | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | ADRB3-W64R | het unknown | 0.105 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CLN3-H404R | het unknown | 0.102 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), 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 | BDNF-V148M | het unknown | 0.208 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | RAB3GAP1-N598S | het unknown | 0.207 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | DMPK-L423V | het unknown | 0.121 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | GGCX-R325Q | het unknown | 0.454 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.25 | NBN-E185Q | het unknown | 0.338 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TRIOBP-S217N | het unknown | 0.413 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests |
| 0.25 | TRIOBP-Q398Del | het unknown | 0.308 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | TRIOBP-N863K | het unknown | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests |
| 0.25 | TRIOBP-F1187L | het unknown | 0.320 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests |
| 0.25 | TRIOBP-H1300R | homozygous | 0.431 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.006 (benign), Testable gene in GeneTests |
| 0.25 | TRIOBP-E1372D | het unknown | 0.237 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests |
| 0.25 | TRIOBP-W1377R | homozygous | 0.964 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.084 (benign), Testable gene in GeneTests |
| 0.25 | DHODH-K7Q | het unknown | 0.560 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.004 (benign) |
| 0.25 | SLC30A8-R325W | het unknown | 0.225 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | DL492456-L149S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 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 | CDH16-A577Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | CDH16-A549T | het unknown | 0.086 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.008 (benign) |
| 0.25 | FSHR-S680N | het unknown | 0.605 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | FSHR-A307T | het unknown | 0.486 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, 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 | TRPM6-K1584E | het unknown | 0.274 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 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: 2 Polyphen 2: 0.013 (benign), Testable gene in GeneTests |
| 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 | MMP9-Q279R | het unknown | 0.477 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MMP9-R574P | homozygous | 0.813 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | LRP8-R952Q | het unknown | 0.130 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | LRP8-D46E | het unknown | 0.621 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PLCE1-R1575P | het unknown | 0.517 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | PLCE1-T1777I | het unknown | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | PLCE1-H1927R | het unknown | 0.328 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests |
| 0.25 | TTF1-G360V | het unknown | 0.110 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.988 (probably damaging), Testable gene in GeneTests |
| 0.25 | BC033456-K101E | homozygous | 0.969 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | BC033456-Q54Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | TOR1B-G9Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | TOR1B-A11V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C17orf57-R211* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | C17orf57-V312I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | ABCA4-H423R | het unknown | 0.232 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | CTH-S403I | het unknown | 0.175 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | DNAI2-V495I | het unknown | 0.258 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | PDE6C-S270T | het unknown | 0.419 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | RET-G691S | het unknown | 0.167 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.16 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | NOTCH3-A2223V | het unknown | 0.553 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | DSC2-I776V | het unknown | 0.223 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SLC29A3-R18G | het unknown | 0.486 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SLC29A3-V239I | het unknown | 0.771 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SLC29A3-I326V | het unknown | 0.824 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | THBD-A473V | het unknown | 0.117 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ANXA11-R230C | het unknown | 0.382 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 1.0 (probably damaging) |
| 0.25 | ITGB4-L1779P | het unknown | 0.486 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL9A2-Q326R | het unknown | 0.403 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ACOX1-I312M | het unknown | 0.492 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | PTF1A-S263P | het unknown | 0.654 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests |
| 0.25 | ITGA2B-I874S | het unknown | 0.255 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | MPP2-G170Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | MPP2-HV80QL | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | LHX4-N328S | het unknown | 0.389 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | FMO2-S195L | het unknown | 0.465 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FMO2-E314G | het unknown | 0.128 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FMO3-E158K | het unknown | 0.374 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | FMO3-E308G | het unknown | 0.104 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.141 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | PCK1-V184L | het unknown | 0.856 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | KCNQ2-N780T | het unknown | 0.509 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CFH-H402Y | het unknown | 0.818 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CFH-E936D | het unknown | 0.209 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.504 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 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 | het unknown | 0.316 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MUC5AC-T2317Del | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | MUC5AC-G2498S | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | MUC5AC-P2582L | het unknown | 0.118 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MUC5AC-T2731I | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | MUC5AC-F3655S | homozygous | 0.701 | 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 | MUC5AC-T4846Del | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | MUC5AC-A5189T | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | MUC5AC-T5204A | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | KISS1-*139Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | KISS1-P81R | het unknown | 0.288 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | IGFBPL1-F269S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | IGFBPL1-R129Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | CFHR1-H157Y | het unknown | 0.169 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CFHR1-E175Q | het unknown | 0.518 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COX10-R159Q | het unknown | 0.494 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | NPHS1-E117K | het unknown | 0.297 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests |
| 0.25 | MUSK-S159G | het unknown | 0.134 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 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: 3 Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview |
| 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 | KRTAP3-2-R27C | het unknown | 0.156 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.25 | CASQ2-T66A | het unknown | 0.427 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CGN-R485Q | het unknown | 0.108 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) |
| 0.25 | CGN-Q638E | het unknown | 0.120 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SLC7A9-L223M | het unknown | 0.265 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests |
| 0.25 | SLC7A9-V142A | het unknown | 0.306 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | HSD17B3-G289S | het unknown | 0.128 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | MAG-L202M | het unknown | 0.110 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.984 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | LCE5A-C40Y | het unknown | 0.548 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | LCE5A-R79* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | BAAT-R20Q | het unknown | 0.569 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.136 (benign), Testable gene in GeneTests |
| 0.25 | CBR3-C4Y | het unknown | 0.391 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.25 | RPGRIP1-K192E | het unknown | 0.446 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 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: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | NIPAL4-R213G | het unknown | 0.505 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | OPRM1-N40D | het unknown | 0.204 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | OPRM1-Q402H | homozygous | 0.882 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SLC22A2-S270A | het unknown | 0.876 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FAM20C-I320Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | FAM20C-V561M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | FAM20C-N564D | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | ATP10B-S575Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | ATP10B-C217R | homozygous | 0.877 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | B3GALTL-E370K | het unknown | 0.612 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | GRM6-Q59P | het unknown | 0.211 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | F12-A207P | het unknown | 0.951 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | UBXN6-N294Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | UBXN6-F293V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | FGFR4-V10I | het unknown | 0.221 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FGFR4-P136L | homozygous | 0.768 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FGFR4-G388R | het unknown | 0.301 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.481 (possibly damaging) |
| 0.25 | PCNT-T539I | het unknown | 0.147 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.009 (benign), Testable gene in GeneTests |
| 0.25 | PCNT-G704E | het unknown | 0.855 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | PCNT-T879A | het unknown | 0.360 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.707 (possibly damaging), Testable gene in GeneTests |
| 0.25 | PCNT-V1038A | het unknown | 0.847 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | PCNT-R1163C | het unknown | 0.125 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests |
| 0.25 | PCNT-I1639V | het unknown | 0.383 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 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 | CDC25C-R389L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | CDC25C-K242* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | CDC25C-R70C | het unknown | 0.385 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.006 (benign) |
| 0.25 | AHR-R554K | het unknown | 0.315 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 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 | VCAN-K1516R | het unknown | 0.480 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | VCAN-R1826H | het unknown | 0.349 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | VCAN-F2301Y | het unknown | 0.462 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | VCAN-D2937Y | het unknown | 0.352 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | AP3B1-V585E | het unknown | 0.806 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | FAM83E-P311L | het unknown | 0.140 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.996 (probably damaging) |
| 0.25 | FAM83E-T91A | homozygous | 0.560 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | VWDE-F1485C | homozygous | 0.734 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | VWDE-K1273Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | VWDE-Q1256K | homozygous | 0.720 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | VWDE-C1050Y | het unknown | 0.138 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | VWDE-T1032M | het unknown | 0.773 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | VWDE-G1009R | het unknown | 0.096 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | VWDE-C890F | het unknown | 0.178 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | VWDE-E869K | het unknown | 0.176 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | VWDE-Y804H | het unknown | 0.191 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | VWDE-S607F | het unknown | 0.748 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | VWDE-R385* | het unknown | 0.202 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Nonsense mutation |
| 0.25 | VWDE-G340D | het unknown | 0.845 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | VWDE-F292I | het unknown | 0.615 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | VWDE-S142F | homozygous | 0.722 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | APC-V1822D | het unknown | 0.887 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ATP7B-S406A | het unknown | 0.355 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | CLN5-R2C | het unknown | 0.158 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CLN5-K368R | het unknown | 0.283 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | IL13-Q144R | het unknown | 0.766 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | HSD17B4-R106H | het unknown | 0.331 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.547 (possibly damaging), Testable gene in GeneTests |
| 0.25 | HSD17B4-I559V | het unknown | 0.392 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.111 (benign), Testable gene in GeneTests |
| 0.25 | C13orf40-R6075C | homozygous | 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-G4893S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C13orf40-V3805I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C13orf40-T3015I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C13orf40-T2812P | het unknown | 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 | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C13orf40-A1822P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C13orf40-N1704H | het unknown | 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 | het unknown | 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 | SLC19A1-H27R | het unknown | 0.447 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.25 | BTNL9-R218* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | BTNL9-G511R | homozygous | 0.721 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | GPR110-I787V | het unknown | 0.250 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | GPR110-I571M | het unknown | 0.249 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | GPR110-Y212Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 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 | ELOVL4-M299V | het unknown | 0.213 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SIM1-A371V | het unknown | 0.224 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SIM1-P352T | het unknown | 0.176 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.365 (possibly damaging), Testable gene in GeneTests |
| 0.25 | MUT-I671V | het unknown | 0.522 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MUT-R532H | het unknown | 0.238 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CENPQ-N42Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | CENPQ-G63R | het unknown | 0.330 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CENPQ-D266G | het unknown | 0.490 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.054 (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: 3 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 | C6orf141-Q137E | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C6orf141-E205Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | KRT1-K633R | het unknown | 0.281 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | KRT1-SSYGSGG557Del | het unknown | 0.426 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | CELA1-Y5P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | CELA1-V3Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | PFKM-R100Q | het unknown | 0.164 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.01 (benign), Testable gene in GeneTests |
| 0.25 | ZNF204P-E93Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | ZNF204P-K6Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | EYA4-G277S | het unknown | 0.467 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | DSP-Y1512C | het unknown | 0.211 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.793 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | F13A1-P565L | het unknown | 0.213 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | GYS2-M363V | het unknown | 0.729 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | TRIM15-I29V | het unknown | 0.222 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.016 (benign) |
| 0.25 | TRIM15-S324N | het unknown | 0.155 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FIG4-V654A | het unknown | 0.467 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 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 | AK123889-R46Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | AK123889-M148T | het unknown | 0.203 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | HSPA1L-E602K | het unknown | 0.225 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.25 | HSPA1L-T493M | het unknown | 0.868 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.25 | WISP3-Q74H | het unknown | 0.334 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 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 | CAPN3-A236T | het unknown | 0.323 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CNTNAP2-C9S | het unknown | 0.086 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.134 (benign), Testable gene in GeneTests |
| 0.25 | CNTNAP2-D1038T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | SUSD2-A799V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | SUSD2-A802Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | IQCB1-C434Y | het unknown | 0.198 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests |
| 0.25 | DRD3-G9S | het unknown | 0.482 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | OR2F1-R122C | het unknown | 0.118 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.971 (probably damaging) |
| 0.25 | OR2F1-H137R | het unknown | 0.203 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.179 (benign) |
| 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 | DOK7-H113P | het unknown | 0.183 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | DOK7-R120Q | het unknown | 0.146 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | DOK7-T137I | het unknown | 0.177 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TTBK2-T1084M | het unknown | 0.117 | 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 | MYH6-V1101A | het unknown | 0.422 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | DUOX2-S1067L | het unknown | 0.662 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | DUOX2-H678R | het unknown | 0.195 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | DUOX2-P138L | het unknown | 0.926 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 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 | TLN2-S460* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | TLN2-SG461RR | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | COL6A3-T3069I | het unknown | 0.364 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL6A3-A3012P | het unknown | 0.843 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL6A3-M2927T | het unknown | 0.674 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MYH9-I1626V | het unknown | 0.289 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SLC28A1-V189I | het unknown | 0.313 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SLC28A1-Q237K | het unknown | 0.241 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SLC28A1-R510C | het unknown | 0.133 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ASAH1-V246A | homozygous | 0.797 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | ASAH1-I93V | het unknown | 0.384 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | ASAH1-V72M | het unknown | 0.386 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | ADAMTSL3-H146R | het unknown | 0.706 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.04 (benign) |
| 0.25 | ADAMTSL3-L290V | het unknown | 0.833 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ADAMTSL3-R618W | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | ADAMTSL3-V661L | het unknown | 0.711 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ADAMTSL3-L869F | het unknown | 0.272 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.148 (benign) |
| 0.25 | CYP1A1-I462V | het unknown | 0.128 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.488 (possibly damaging) |
| 0.25 | ATXN7-V862M | het unknown | 0.485 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | EHBP1L1-V133L | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | EHBP1L1-A147Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | EHBP1L1-R307Q | het unknown | 0.509 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.19 (benign) |
| 0.25 | EHBP1L1-V538G | het unknown | 0.411 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.992 (probably damaging) |
| 0.25 | EHBP1L1-D569V | homozygous | 0.940 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | BSN-Y1419Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | BSN-A3863T | homozygous | 0.707 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.235 (possibly damaging) |
| 0.25 | WDR60-E133Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | WDR60-N225K | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | WDR60-Q273R | homozygous | 0.622 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | TCN2-H167L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | TCN2-R259P | het unknown | 0.594 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | CRIPAK-T17Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | CRIPAK-H95R | het unknown | 0.763 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.01 (benign) |
| 0.25 | BANK1-A383T | het unknown | 0.233 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.778 (possibly damaging) |
| 0.25 | BANK1-C650R | homozygous | 0.990 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SIX6-H141N | het unknown | 0.314 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | KIAA1377-A178T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | KIAA1377-G238C | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | KIAA1377-S275Y | het unknown | 0.106 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.983 (probably damaging) |
| 0.25 | KIAA1377-I281T | het unknown | 0.103 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.05 (benign) |
| 0.25 | KIAA1377-A302T | het unknown | 0.108 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.012 (benign) |
| 0.25 | KIAA1377-S1077N | homozygous | 0.987 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | KISS1R-L364H | het unknown | 0.875 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ALG8-N222S | het unknown | 0.120 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | MFSD8-A423V | het unknown | 0.151 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.177 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | NR3C2-V180I | het unknown | 0.883 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | GARS-P42A | het unknown | 0.654 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | PAX9-A240P | het unknown | 0.323 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SLC6A19-V252I | het unknown | 0.192 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | DACT1-E294K | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | DACT1-G517Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | TXNDC3-R43K | het unknown | 0.291 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TXNDC3-C208R | het unknown | 0.740 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 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 | PDGFRA-S478P | het unknown | 0.192 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SPATA7-V74M | het unknown | 0.412 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ATP10A-R1298S | het unknown | 0.450 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ATP10A-L1287Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | ATP10A-A1179T | het unknown | 0.326 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.108 (benign) |
| 0.25 | ATP10A-W1172C | het unknown | 0.103 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.999 (probably damaging) |
| 0.25 | SLIT2-K365Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | SLIT2-E1360Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | CC2D2A-E376A | het unknown | 0.110 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.47 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | CNGA1-D187N | het unknown | 0.228 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SERPINA1-E400D | het unknown | 0.220 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 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: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | UGT2B15-C283R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | UGT2B15-Y85D | het unknown | 0.500 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CFTR-V470M | het unknown | 0.621 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ABCG2-V12M | het unknown | 0.122 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.125 | CYP4F2-V433M | het unknown | 0.216 | Recessive pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.309 (possibly damaging) |
| 0.125 | CYP4F2-W12G | het unknown | 0.058 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0 | CHD7-A2794Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 0 | BLM-Y584* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Nonsense mutation, Testable gene in GeneTests with associated GeneReview | |
| 0 | NIPBL-Q1844Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 0 | GJB2-V37I | het unknown | 0.008 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 5 Polyphen 2: 0.938 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0 | VCL-M1073Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview |
Input file format: CGIVAR
Genome build: b37
Genome coverage: 2,780,463,260 bases (97.3% of callable positions, 90.3% of total positions)
Coding region coverage: 32,953,539 bases (99.0% of all genes, 99.5% of genes with clinical testing available)
Chromosomes: chr1, chr10, chr11, chr12, chr13, chr14, chr15, chr16, chr17, chr18, chr19, chr2, chr20, chr21, chr22, chr3, chr4, chr5, chr6, chr7, chr8, chr9, chrM, chrX, chrY