Variant report for hu8229AE
- Data source: CGI sample GS01173-DNA_A07 from PGP sample 96240009
- This report: evidence.pgp-hms.org/genomes?e27a808425ee02da4d9482c48c8764c1ffae4cda
- Person ID: hu8229AE
- public profile: my.pgp-hms.org/profile/hu8229AE
- Download: source data, dbSNP and nsSNP report (122 MB)
- Processing status: processing
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Log file:
Row number | Variant | Clinical Importance | Evidence | Impact | Allele freq | Summary | Sufficient |
---|---|---|---|---|---|---|---|
1 | C3-R102G | Moderate | Likely | Likely pathogenic Complex/Other, Heterozygous | 0.152073 | This variant (also called C3F) is common in Europeans (10.2% allele frequency), and is associated with age-related macular degeneration. In the US, 1.5% of adults over 40 have the disease, but the incidence increases strongly with age (>15% in women over 80). Assuming an average lifetime risk of ~10%, heterozygous individuals have a ~13% risk and homozygous have ~20%. | 1 |
2 | SERPINA1-E288V | Low | Well-established | Well-established pathogenic Recessive, Carrier (Heterozygous) | 0.0304889 | This variant represents the PiS variant in alpha-1-antitrypsin deficiency where a homozygous individual has 60% enzymatic activity. This variant alone is unlikely to much effect, but 3-4% of heterozygotes are compound heterozygous with the more severe PiZ variant, which is associated with an increased risk of emphysema and COPD. | 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 | APOA5-S19W | Low | Likely | Likely pathogenic Unknown, Heterozygous | 0.0646151 | This variant, also known as APOA5*3, is associated with higher plasma triglyceride concentrations but no significant correlation with coronary artery disease itself has been found. | 1 |
5 | 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 |
6 | LRP5-A1330V | Low | Uncertain | Uncertain pathogenic Complex/Other, Heterozygous | 0.110367 | In a study of a UK population this variant was associated with a small increased risk of osteoporosis and osteoporotic bone fractures, with each copy of the variant presumed to have an additive effect. A study in Chinese young men failed to find an association with peak bone density. | 1 |
7 | TGIF1-P83Shift | Low | Uncertain | Uncertain pathogenic Complex/Other, Heterozygous | 0.138889 | Severe variants in this gene are associated with holoprosencephaly disorders when combined with loss-of-function variants in SHH. Haploinsufficiency was identified in some families with this condition. It is unclear how likely this variant is to occur in combination with an SHH variant, or what phenotypic effect the variant would have on its own. | 1 |
8 | TP53-P72R | Low | Uncertain | Uncertain pathogenic Unknown, Homozygous | 0.627743 | This is a common variant was first reported as a polymorphism. It has since had mixed associations with cancer: Storey et al. conclude a 7x *increased* risk of HPV cancer for homozygotes vs hets, but Jones et al. find a 1.98x *decreased* risk for colorectal cancer. This variant may have significant impact on particular cancers, but it is unclear what effect it has on the overall burden of cancer. | 1 |
9 | SP110-L425S | Low | Uncertain | Uncertain pathogenic Unknown, Heterozygous | 0.863357 | This variant is associated with a slightly increased risk of tuberculosis. It is unclear whether it is itself causal, or in linkage disequilibrium with some other causal variant that has a stronger effect. | 1 |
10 | WFS1-R611H | Low | Uncertain | Uncertain not reviewed Recessive, Carrier (Heterozygous) | 0.400446 | This nonsynonymous SNP is associated with Wolfram Syndrome (known as DIDMOAD), which is characterized by early-onset non-autoimmune diabetes mellitus, diabetes insipidus, optic atrophy, and deafness) and to adult Type Two Diabetes Mellitus. The WFS1 gene maps to chromosome 4p16.3. The variant has been shown to be statistically associated with type II diabetes in six UK studies and one study of Ashkenazi Jews (Sandhu, M., et al., Minton et al.). | 1 |
11 | BRCA2-N372H | Low | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | 0.23656 | This is a common variant of BRCA2 (HapMap allele frequency of 23%). The variant is weakly associated with an increased chance of breast cancer, and zygosity of the variant is associated with sex of children: male children are more likely to be homozygous for this variant, female children are more likely to be heterozygous. | 1 |
12 | ERCC6-R1213G | Low | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | 0.196877 | When homozygous, this variant may cause Cockayne Syndrome, which is a severe autosomal-recessive disorder characterized by abnormal early growth and development, abnormal sensitivity to sunlight, and premature aging. Cockayne Syndrome Type I and Type II lead to death in early childhood. Several other variants in the ERCC6 gene are linked to Cockayne Syndrome. This variant may also be linked to age-related macular degeneration like other ERCC6 variants, and has been linked to colorectal cancer in one study. | 1 |
13 | CLEC7A-Y238X | Low | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | 0.0632088 | This variant has been found to impair homan mucosal antifungal defense and was implicated in vulvovaginal candidiasis and mucocutaneous infections in a Dutch family. | 1 |
14 | rs1544410 | Low | Uncertain | Uncertain pharmacogenetic Unknown, Heterozygous | 0.351562 | rs1544410 is a Vitamin D Receptor (VDR) single nucleotide polymorphism. It is unlikely that it has functional significance because it is located in an intron (Liu et. al.), but it is in strong linkage disequilibrium with rs731236 (Dvornyk et al), which is located in an exon. | 1 |
15 | CASP10-V410I | Low | Likely | Likely protective Dominant, Homozygous | 0.0474066 | Reported to have a protective effect on breast cancer. If the lifetime risk of breast cancer is 12%, women with this variant may have a lower risk of 8-9% (30% less than average). | 1 |
16 | NPC1-H215R | Low | Likely | Likely protective Complex/Other, Heterozygous | 0.295687 | This variant is associated with a reduced risk of obesity, with an additive effect of -0.084 BMI per allele (an average of 0.54 pounds less, per allele, in a 5'6" individual). | 1 |
17 | CFH-V62I | Low | Likely | Likely protective Complex/Other, Heterozygous | 0.391616 | Associated with a decreased risk for age related macular degeneration (ARMD). Homozygotes for this have a 4-5% decreased attributable risk (3-4% vs. average 8% risk), heterozygotes have slightly lower than average risk (7%). Non-carriers have an increased risk (12-13%). ARMD impairs sharp vision as age progresses. While there is no cure, treatment can slow progression of the disease and environmental factors (smoking and obesity) contribute to higher risk. | 1 |
18 | TOR1A-D216H | Low | Likely | Likely protective Unknown, Heterozygous | 0.102993 | This SNP has been shown to be benign and play a protective role against Dystonia. | 1 |
19 | 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 |
20 | LIG4-A3V | Low | Uncertain | Uncertain protective Dominant, Heterozygous | 0.035843 | One report has associated this with a decreased risk of multiple myeloma. | 1 |
21 | MLH1-I219V | Low | Uncertain | Uncertain benign Dominant, Heterozygous | 0.239822 | Computational evidence, functional assays, and case/control studies suggest this variant is probably benign. | 1 |
22 | RPGRIP1-A547S | Low | Uncertain | Uncertain benign Complex/Other, Heterozygous | 0.232202 | Probably benign. Implicated in causing autosomal recessive cone-rod dystrophy, but a later report found the same incidence in controls and concludes it is not causal. | 1 |
23 | TAS2R38-I296V | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.463376 | This variant is associated with "taster" status of PTC, along with 49P and 262A. Due to linkage disequilibrium, the independent effects of positions 296 and 262 is unclear. The presence of 49P confers taster status in a dominant fashion, but in the absence of 49P, the presence of 262A/296V is still positively associated with tasting PTC. | 1 |
24 | UNC13D-R928C | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0157473 | This variant was seen, along with other variants, in two cases of haemophagocytic lymphohistiocytosis — however, the variant frequency in these cases does not significantly differ from later reported frequency of the variant in exome sequencing data (1.4%). If the variant were causal it would be significantly enriched in cases; instead, it is likely a polymorphism unrelated to the disease in these patients. | 1 |
25 | TYR-S192Y | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.270682 | This variant is reported to affect skin pigmentation. It is associated with lighter skin in South Asians (OR 4-5) and with a lack of freckles in Europeans (OR 1.3). | 1 |
26 | TPCN2-G734E | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.286166 | Pigmentation allele. | 1 |
27 | TAS2R38-A49P | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.431121 | This variant is strongly associated with causing the "taster" phenotype of phenylthiocarbamine (PTC) in a dominant manner. | 1 |
28 | PCSK9-G670E | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.888269 | This variant is likely benign. | 1 |
29 | GUCY2D-A52S | Low | Uncertain | Uncertain benign Recessive, Carrier (Heterozygous) | 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 |
30 | FAH-R341W | Low | Uncertain | Uncertain benign Recessive, Carrier (Heterozygous) | 0.0172895 | This variant shows pseudodeficiency for production of FAH protein which is connected with hereditary tyrosinemia type I. Pseudodeficiency was confirmed with site-directed mutagenesis and expression in a rabbit reticulocyte lysate system. The allelic frequency in 516 Norwegian controls was 0.022. | 1 |
31 | CBLC-H405Y | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0374605 | Probably benign. | 1 |
32 | APOB-Y1422C | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.999628 | This position is almost certainly an error in the HG18 reference sequence. | 1 |
33 | MAPT-R370W | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.155549 | Probably benign. | 1 |
34 | NTRK1-H604Y | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0431307 | Various databases and papers treat this variant as a non-pathogenic polymorphism, although it is fairly uncommon and is computational methods predict it to be damaging. | 1 |
35 | RP1-N985Y | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.348671 | Probably benign. One report linked this variant to high triglycerides, but a later paper found a nearby SNP with similar association and suggests that both findings are caused by linkage to an undiscovered causal variant. | 1 |
36 | PTCH1-P1315L | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.29631 | Common polymorphism, presumed benign. | 1 |
37 | PKP2-L366P | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.221231 | This variant is a benign polymorphism. | 1 |
38 | NTRK1-G613V | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0429448 | Also called G607V, this variant has been reported as a nonpathogenic polymorphism. | 1 |
39 | SLC45A2-L374F | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.691764 | Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma. | 1 |
Row number | Variant | Prioritization score | Allele freq | Num of articles | Zygosity and Prioritization Score Reasons | Sufficient |
---|
Exome coverage: 32819928 / 33212919 = 98.82%
Row number | Gene | Chromosome | Coverage | Missing | Length | Missing regions |
---|---|---|---|---|---|---|
1 | AGRN | 1 | 0.95063538611926 | 303 | 6138 | 955553-955599, 955606-955657, 955667, 955674, 955697, 955700, 976210-976216, 976251-976260, 977056-977082, 977517-977532, 981795-981796, 981806, 981861, 981977-981984, 981987-981988, 983425, 983604-983721, 983734, 983737-983740, 983744-983745 |
2 | GABRD | 1 | 0.95069904341428 | 67 | 1359 | 1950864-1950930 |
3 | NPHP4 | 1 | 0.99976640971736 | 1 | 4281 | 5935151 |
4 | ESPN | 1 | 0.94970760233918 | 129 | 2565 | 6500416, 6500482-6500488, 6500717-6500738, 6500756-6500764, 6500782, 6500839-6500868, 6501029-6501035, 6505844-6505890, 6508822-6508826 |
5 | PLEKHG5 | 1 | 0.94951395421762 | 161 | 3189 | 6534125-6534164, 6534173-6534195, 6534217-6534224, 6534511-6534594, 6534608-6534609, 6557380-6557383 |
6 | KIF1B | 1 | 0.99153020892151 | 45 | 5313 | 10356974-10357003, 10425549-10425559, 10425584-10425587 |
7 | TARDBP | 1 | 0.95100401606426 | 61 | 1245 | 11080523-11080534, 11082322-11082369, 11082530 |
8 | CLCNKA | 1 | 0.98982558139535 | 21 | 2064 | 16358268-16358274, 16360134-16360147 |
9 | CLCNKB | 1 | 0.98643410852713 | 28 | 2064 | 16373044-16373050, 16378881-16378887, 16383392-16383405 |
10 | ATP13A2 | 1 | 0.99802427321479 | 7 | 3543 | 17313607, 17322608, 17322619-17322623 |
11 | PINK1 | 1 | 0.99656357388316 | 6 | 1746 | 20960307-20960310, 20960317, 20960322 |
12 | HSPG2 | 1 | 0.99461141469338 | 71 | 13176 | 22190597-22190604, 22263648-22263710 |
13 | WNT4 | 1 | 0.92708333333333 | 77 | 1056 | 22469339-22469415 |
14 | GALE | 1 | 0.99713467048711 | 3 | 1047 | 24123033-24123035 |
15 | SEPN1 | 1 | 0.89028776978417 | 183 | 1668 | 26126722-26126904 |
16 | KCNQ4 | 1 | 0.99712643678161 | 6 | 2088 | 41249776, 41249993, 41284245, 41284259, 41284303-41284304 |
17 | CLDN19 | 1 | 0.97481481481481 | 17 | 675 | 43201567-43201580, 43201589-43201591 |
18 | MPL | 1 | 0.99947589098532 | 1 | 1908 | 43818356 |
19 | STIL | 1 | 0.99689681923972 | 12 | 3867 | 47755246-47755257 |
20 | ORC1 | 1 | 0.99883990719258 | 3 | 2586 | 52851553-52851555 |
21 | DHCR24 | 1 | 0.99806576402321 | 3 | 1551 | 55352600-55352602 |
22 | PCSK9 | 1 | 0.999037999038 | 2 | 2079 | 55505551-55505552 |
23 | LEPR | 1 | 0.99799885648942 | 7 | 3498 | 66083728, 66085701-66085706 |
24 | DPYD | 1 | 0.98960363872645 | 32 | 3078 | 97847949-97847951, 97847955-97847965, 97847975-97847992 |
25 | AGL | 1 | 0.99956512285279 | 2 | 4599 | 100340776-100340777 |
26 | COL11A1 | 1 | 0.978009895547 | 120 | 5457 | 103364222-103364282, 103364288-103364292, 103364315-103364329, 103364497-103364498, 103364540-103364545, 103381204-103381211, 103412455-103412456, 103412462, 103435811-103435823, 103435828, 103470189, 103470192, 103471841, 103471861, 103471864, 103548485 |
27 | GSTM1 | 1 | 0.41552511415525 | 384 | 657 | 110230496-110230531, 110230792-110230815, 110230839, 110230841, 110230854, 110230858, 110231295-110231342, 110231688-110231694, 110231714, 110231721, 110231724-110231729, 110231742-110231744, 110231847-110231947, 110232893-110232898, 110232905, 110232928, 110232934-110232943, 110232953-110232988, 110233076-110233174 |
28 | NOTCH2 | 1 | 0.98692017259978 | 97 | 7416 | 120458189-120458191, 120539668, 120539687, 120539691, 120539711, 120539778-120539784, 120539913-120539939, 120547962-120547968, 120548025, 120548051, 120548055, 120548091-120548097, 120572544-120572575, 120611960, 120611964, 120612003-120612004, 120612006, 120612013-120612014 |
29 | FLG | 1 | 0.99696372886919 | 37 | 12186 | 152276487-152276493, 152276668-152276674, 152277032-152277038, 152277498, 152278434, 152280570-152280576, 152281350-152281356 |
30 | LMNA | 1 | 0.97354497354497 | 15 | 567 | 156105077-156105091 |
31 | LMNA | 1 | 0.99248120300752 | 15 | 1995 | 156105077-156105091 |
32 | NTRK1 | 1 | 0.99539941447093 | 11 | 2391 | 156830727-156830729, 156830735, 156830751-156830753, 156830779, 156830782, 156830787, 156843440 |
33 | MPZ | 1 | 0.998712998713 | 1 | 777 | 161276186 |
34 | F5 | 1 | 0.99700374531835 | 20 | 6675 | 169510325-169510343, 169510475 |
35 | DARS2 | 1 | 0.9984520123839 | 3 | 1938 | 173802577, 173802580-173802581 |
36 | NPHS2 | 1 | 0.99913194444444 | 1 | 1152 | 179544863 |
37 | LAMC2 | 1 | 0.99720826353992 | 10 | 3582 | 183155493-183155501, 183155518 |
38 | HMCN1 | 1 | 0.9995268511947 | 8 | 16908 | 186031081-186031088 |
39 | PDC | 1 | 0.9919028340081 | 6 | 741 | 186418584-186418589 |
40 | CFH | 1 | 0.98593073593074 | 52 | 3696 | 196658731, 196658735, 196682887-196682890, 196706732-196706733, 196706751, 196716353-196716395 |
41 | CFHR1 | 1 | 0.99194360523666 | 8 | 993 | 196797354-196797360, 196801078 |
42 | CFHR5 | 1 | 0.99707602339181 | 5 | 1710 | 196953091-196953094, 196967258 |
43 | ASPM | 1 | 0.99808318957255 | 20 | 10434 | 197069698, 197069709-197069717, 197069725-197069729, 197069767-197069769, 197113167, 197113186 |
44 | CRB1 | 1 | 0.99928926794598 | 3 | 4221 | 197396963-197396965 |
45 | CD46 | 1 | 0.98416666666667 | 19 | 1200 | 207940409-207940427 |
46 | USH2A | 1 | 0.99935934396822 | 10 | 15609 | 215916553, 215916563, 215931937-215931938, 216251510, 216496823, 216496828, 216496925-216496927 |
47 | GJC2 | 1 | 0.84469696969697 | 205 | 1320 | 228345514-228345521, 228345571-228345588, 228345625-228345631, 228345681-228345685, 228345689, 228345752-228345758, 228345784-228345809, 228346030-228346070, 228346095-228346109, 228346336-228346404, 228346449-228346451, 228346475, 228346593, 228346598, 228346604, 228346632 |
48 | ACTA1 | 1 | 0.99911816578483 | 1 | 1134 | 229567925 |
49 | LYST | 1 | 0.9973698053656 | 30 | 11406 | 235875446, 235875465-235875466, 235875474, 235875495, 235907365-235907366, 235929577, 235938385-235938386, 235944237-235944239, 235944265, 235944268, 235944329, 235944339, 235950500-235950501, 235950672-235950673, 235967839, 235967842-235967844, 235972224, 235972391-235972394 |
50 | MTR | 1 | 0.99578725645076 | 16 | 3798 | 237013668, 237013724, 237013807-237013818, 237024425-237024426 |
51 | RYR2 | 1 | 0.99738325281804 | 39 | 14904 | 237656317-237656318, 237656323, 237821244-237821271, 237821301, 237824110-237824111, 237881767, 237881770, 237881776-237881778 |
52 | NET1 | 10 | 0.99609156895589 | 7 | 1791 | 5454768-5454774 |
53 | GATA3 | 10 | 0.99475655430712 | 7 | 1335 | 8100742-8100748 |
54 | DCLRE1C | 10 | 0.996632996633 | 7 | 2079 | 14981847-14981853 |
55 | CUBN | 10 | 0.99668874172185 | 36 | 10872 | 16878294-16878302, 16949565-16949579, 17085891, 17085973-17085976, 17142033-17142038, 17142048 |
56 | PTF1A | 10 | 0.9918946301925 | 8 | 987 | 23481870-23481875, 23481912-23481913 |
57 | PDSS1 | 10 | 0.99919871794872 | 1 | 1248 | 26994267 |
58 | RET | 10 | 0.99013452914798 | 33 | 3345 | 43572707-43572717, 43572731-43572732, 43572741-43572746, 43572749-43572751, 43572762-43572770, 43572778-43572779 |
59 | ERCC6 | 10 | 0.99977688531905 | 1 | 4482 | 50740819 |
60 | CHAT | 10 | 0.92790387182911 | 162 | 2247 | 50822266-50822427 |
61 | PCDH15 | 10 | 0.99643402954661 | 21 | 5889 | 55587206, 55587209-55587220, 55587231-55587236, 55587243, 55719508 |
62 | CDH23 | 10 | 0.99860779634049 | 14 | 10056 | 73206075, 73462364-73462365, 73567279-73567281, 73574756-73574763 |
63 | PSAP | 10 | 0.99936507936508 | 1 | 1575 | 73579579 |
64 | MAT1A | 10 | 0.99158249158249 | 10 | 1188 | 82045284-82045293 |
65 | LDB3 | 10 | 0.99862637362637 | 3 | 2184 | 88476088, 88476091, 88476206 |
66 | BMPR1A | 10 | 0.99937460913071 | 1 | 1599 | 88683146 |
67 | GLUD1 | 10 | 0.99582587954681 | 7 | 1677 | 88836362-88836368 |
68 | LIPA | 10 | 0.99916666666667 | 1 | 1200 | 90988036 |
69 | HPS1 | 10 | 0.98385565052232 | 34 | 2106 | 100177326-100177359 |
70 | PAX2 | 10 | 0.98768283294842 | 16 | 1299 | 102566307-102566322 |
71 | FBXW4 | 10 | 0.99596448748991 | 5 | 1239 | 103436141-103436142, 103454358-103454360 |
72 | HPS6 | 10 | 0.9995704467354 | 1 | 2328 | 103826692 |
73 | SUFU | 10 | 0.99175257731959 | 12 | 1455 | 104263975-104263980, 104263983-104263988 |
74 | HTRA1 | 10 | 0.94733194733195 | 76 | 1443 | 124221169-124221217, 124221219-124221224, 124221252-124221253, 124221256, 124221270, 124221276, 124221316-124221323, 124221336-124221337, 124221347-124221352 |
75 | UROS | 10 | 0.98245614035088 | 14 | 798 | 127483517-127483530 |
76 | SLC25A22 | 11 | 0.97427983539095 | 25 | 972 | 792625-792626, 792630-792631, 792634-792636, 792647-792649, 792659-792661, 792665-792670, 792673-792675, 792682-792683, 792884 |
77 | PNPLA2 | 11 | 0.99339933993399 | 10 | 1515 | 819807, 819828-819836 |
78 | CTSD | 11 | 0.97013720742534 | 37 | 1239 | 1775329-1775358, 1785070-1785073, 1785079-1785081 |
79 | TNNI2 | 11 | 0.99817850637523 | 1 | 549 | 1861760 |
80 | TH | 11 | 0.99555555555556 | 7 | 1575 | 2191963-2191968, 2191979 |
81 | CDKN1C | 11 | 0.69716088328076 | 288 | 951 | 2905927-2905986, 2905999-2906005, 2906061-2906262, 2906409, 2906412-2906415, 2906424, 2906460-2906462, 2906466, 2906470-2906476, 2906496, 2906502 |
82 | SMPD1 | 11 | 0.99947257383966 | 1 | 1896 | 6411935 |
83 | SBF2 | 11 | 0.99693693693694 | 17 | 5550 | 9838398, 9985340-9985341, 9985395-9985406, 10052614-10052615 |
84 | USH1C | 11 | 0.99925925925926 | 2 | 2700 | 17531080, 17531335 |
85 | ANO5 | 11 | 0.97556528081692 | 67 | 2742 | 22249052-22249060, 22276987-22277005, 22277011, 22277014, 22277023-22277029, 22277039-22277068 |
86 | RAG1 | 11 | 0.99872286079183 | 4 | 3132 | 36594873, 36594924, 36594927-36594928 |
87 | SLC35C1 | 11 | 0.99905303030303 | 1 | 1056 | 45827805 |
88 | MADD | 11 | 0.99858414239482 | 7 | 4944 | 47331113-47331119 |
89 | SLC39A13 | 11 | 0.99910394265233 | 1 | 1116 | 47431750 |
90 | SERPING1 | 11 | 0.99933466400532 | 1 | 1503 | 57365761 |
91 | ROM1 | 11 | 0.99905303030303 | 1 | 1056 | 62381084 |
92 | SLC22A12 | 11 | 0.98616125150421 | 23 | 1662 | 64367216-64367217, 64367268-64367288 |
93 | MEN1 | 11 | 0.99945887445887 | 1 | 1848 | 64573223 |
94 | BBS1 | 11 | 0.99607182940516 | 7 | 1782 | 66299430-66299436 |
95 | NDUFV1 | 11 | 0.99928315412186 | 1 | 1395 | 67379927 |
96 | LRP5 | 11 | 0.99443069306931 | 27 | 4848 | 68080197, 68080209-68080211, 68080215-68080218, 68080221-68080238, 68131221 |
97 | IGHMBP2 | 11 | 0.99094567404427 | 27 | 2982 | 68704530-68704556 |
98 | DHCR7 | 11 | 0.98179271708683 | 26 | 1428 | 71146573-71146585, 71146590-71146595, 71146606-71146612 |
99 | MYO7A | 11 | 0.99804452466907 | 13 | 6648 | 76922282, 76922295-76922304, 76922308-76922309 |
100 | FZD4 | 11 | 0.99938042131351 | 1 | 1614 | 86666081 |
101 | DYNC2H1 | 11 | 0.98632676709154 | 177 | 12945 | 102984295, 102984301, 102984315-102984316, 102984319-102984320, 102984368-102984369, 102992207-102992213, 103006665, 103006672, 103006675-103006677, 103029457-103029484, 103029744, 103031716, 103036735, 103043811-103043836, 103043954-103043956, 103044033, 103049831, 103052517-103052541, 103059240-103059277, 103059318, 103062253, 103062907-103062910, 103062919-103062922, 103082518, 103082540-103082541, 103082565-103082570, 103093711-103093713, 103093717, 103126877-103126883, 103130666, 103130681 |
102 | ATM | 11 | 0.98887798495257 | 102 | 9171 | 108126958-108126961, 108126970-108127067 |
103 | ALG9 | 11 | 0.99128540305011 | 16 | 1836 | 111728429-111728444 |
104 | DLAT | 11 | 0.99691358024691 | 6 | 1944 | 111909973-111909978 |
105 | ROBO3 | 11 | 0.99086757990868 | 38 | 4161 | 124738935, 124738938, 124739423-124739426, 124739435, 124748635-124748636, 124750436-124750464 |
106 | KCNJ1 | 11 | 0.99744897959184 | 3 | 1176 | 128709135-128709137 |
107 | CACNA2D4 | 12 | 0.997949619215 | 7 | 3414 | 2022196-2022202 |
108 | CACNA1C | 12 | 0.99862825788752 | 9 | 6561 | 2705093-2705094, 2794934-2794940 |
109 | VWF | 12 | 0.98377161809998 | 137 | 8442 | 6103069-6103071, 6103082, 6122709, 6125301-6125307, 6125372, 6125718-6125728, 6127532-6127538, 6127637-6127661, 6128554-6128560, 6128784-6128790, 6131925-6131932, 6131955-6131982, 6132003-6132033 |
110 | TNFRSF1A | 12 | 0.99707602339181 | 4 | 1368 | 6439004-6439007 |
111 | SCNN1A | 12 | 0.99908550525834 | 2 | 2187 | 6472762-6472763 |
112 | ATN1 | 12 | 0.99104394066611 | 32 | 3573 | 7045599-7045600, 7045603-7045604, 7045607-7045608, 7045892-7045917 |
113 | GYS2 | 12 | 0.99810606060606 | 4 | 2112 | 21712065-21712068 |
114 | ABCC9 | 12 | 0.99655913978495 | 16 | 4650 | 21998552, 22015987-22015988, 22025602, 22063800-22063801, 22063815, 22063874, 22063886, 22069995-22069998, 22070005-22070007 |
115 | KRAS | 12 | 0.99824561403509 | 1 | 570 | 25380242 |
116 | DNM1L | 12 | 0.99909543193125 | 2 | 2211 | 32890094-32890095 |
117 | KIF21A | 12 | 0.99699157641396 | 15 | 4986 | 39756978, 39761759-39761768, 39761775-39761778 |
118 | LRRK2 | 12 | 0.99116561181435 | 67 | 7584 | 40645156, 40696666, 40753068, 40761446-40761479, 40761494-40761519, 40761525-40761527, 40761544 |
119 | VDR | 12 | 0.98520249221184 | 19 | 1284 | 48251352-48251358, 48251368-48251371, 48251382-48251389 |
120 | COL2A1 | 12 | 0.99820788530466 | 8 | 4464 | 48375914-48375921 |
121 | MLL2 | 12 | 0.99632839773685 | 61 | 16614 | 49426641-49426643, 49426737, 49426740-49426742, 49426749, 49426754, 49426770-49426774, 49426890-49426892, 49426915-49426918, 49427262-49427291, 49427652-49427658, 49427664, 49427667, 49431842 |
122 | TUBA1A | 12 | 0.87719298245614 | 56 | 456 | 49522195-49522241, 49522308-49522314, 49522578, 49522605 |
123 | KRT81 | 12 | 0.97430830039526 | 39 | 1518 | 52684021-52684027, 52684881-52684905, 52685160-52685166 |
124 | KRT86 | 12 | 0.98015058179329 | 29 | 1461 | 52695754, 52696045-52696051, 52696927-52696933, 52699030-52699036, 52699545-52699551 |
125 | KRT6B | 12 | 0.94749262536873 | 89 | 1695 | 52841338-52841344, 52844243, 52844246, 52844265, 52845397-52845410, 52845527-52845534, 52845597-52845604, 52845662-52845687, 52845798-52845820 |
126 | KRT6C | 12 | 0.93805309734513 | 105 | 1695 | 52863213, 52865900-52865928, 52866060, 52867091-52867108, 52867186-52867193, 52867257-52867264, 52867321-52867353, 52867457-52867463 |
127 | KRT6A | 12 | 0.96342182890855 | 62 | 1695 | 52881868-52881874, 52886553-52886559, 52886638-52886644, 52886707-52886714, 52886772-52886797, 52886908-52886914 |
128 | KRT5 | 12 | 0.99661590524535 | 6 | 1773 | 52908849-52908850, 52908855-52908857, 52908893 |
129 | KRT1 | 12 | 0.9906976744186 | 18 | 1935 | 53072484-53072485, 53072504-53072518, 53073950 |
130 | MYO1A | 12 | 0.99968071519796 | 1 | 3132 | 57424880 |
131 | TSFM | 12 | 0.9959100204499 | 4 | 978 | 58176625-58176628 |
132 | GNS | 12 | 0.99879445449066 | 2 | 1659 | 65153018-65153019 |
133 | LEMD3 | 12 | 0.98501461988304 | 41 | 2736 | 65612359-65612399 |
134 | CEP290 | 12 | 0.99368279569892 | 47 | 7440 | 88454607-88454608, 88454615, 88454619, 88462339, 88472986, 88479839-88479842, 88490742, 88505633, 88513970-88513971, 88513982, 88514020-88514025, 88519038, 88519096-88519102, 88520097-88520103, 88520178, 88522745, 88522794, 88532962-88532968, 88534764 |
135 | PAH | 12 | 0.99926416482708 | 1 | 1359 | 103288640 |
136 | ATXN2 | 12 | 0.94266869609335 | 226 | 3942 | 112036614, 112036617, 112036726-112036753, 112036761-112036768, 112036777-112036779, 112036782, 112036785, 112036790, 112036793, 112036797-112036800, 112036804-112036810, 112036814-112036823, 112036826, 112036893-112036895, 112036908, 112036911, 112036929-112036940, 112036949-112037020, 112037026-112037078, 112037187-112037202, 112037221 |
137 | HNF1A | 12 | 0.98101265822785 | 36 | 1896 | 121434358-121434369, 121437306-121437316, 121437381-121437392, 121438910 |
138 | PUS1 | 12 | 0.99844236760125 | 2 | 1284 | 132425974, 132426014 |
139 | SGCG | 13 | 0.99885844748858 | 1 | 876 | 23777835 |
140 | SACS | 13 | 0.99970887918486 | 4 | 13740 | 23912861-23912863, 23915064 |
141 | PDX1 | 13 | 0.94483568075117 | 47 | 852 | 28494547-28494593 |
142 | B3GALTL | 13 | 0.99131596526386 | 13 | 1497 | 31774228-31774240 |
143 | FREM2 | 13 | 0.99968454258675 | 3 | 9510 | 39261568-39261570 |
144 | SUCLA2 | 13 | 0.9992816091954 | 1 | 1392 | 48571020 |
145 | RB1 | 13 | 0.99928238249013 | 2 | 2787 | 48947572, 49051499 |
146 | ATP7B | 13 | 0.99931787175989 | 3 | 4398 | 52523871-52523873 |
147 | SLITRK1 | 13 | 0.99282639885222 | 15 | 2091 | 84455505-84455519 |
148 | ZIC2 | 13 | 0.93245778611632 | 108 | 1599 | 100634393, 100634399, 100634402, 100634405-100634408, 100635013-100635016, 100635019, 100637704-100637734, 100637737, 100637740-100637747, 100637754-100637755, 100637758, 100637788-100637792, 100637798, 100637802-100637808, 100637824-100637842, 100637845-100637858, 100637877, 100637880-100637884, 100637900 |
149 | ERCC5 | 13 | 0.98985609813635 | 43 | 4239 | 103468807-103468830, 103468890-103468893, 103514594-103514605, 103514608-103514610 |
150 | PABPN1 | 14 | 0.89250814332248 | 99 | 921 | 23790742, 23790854-23790857, 23790872-23790875, 23790880-23790899, 23790921-23790973, 23790996-23791005, 23791014-23791020 |
151 | MYH6 | 14 | 0.99914089347079 | 5 | 5820 | 23855313-23855317 |
152 | PCK2 | 14 | 0.99895995839834 | 2 | 1923 | 24568258-24568259 |
153 | TGM1 | 14 | 0.99755501222494 | 6 | 2454 | 24724266-24724271 |
154 | FOXG1 | 14 | 0.76734693877551 | 342 | 1470 | 29236561, 29236620-29236960 |
155 | NKX2-1 | 14 | 0.99917081260365 | 1 | 1206 | 36986835 |
156 | FANCM | 14 | 0.97966487717586 | 125 | 6147 | 45623900-45623963, 45623972-45624025, 45644340, 45653101-45653105, 45668054 |
157 | GCH1 | 14 | 0.99734395750332 | 2 | 753 | 55369235, 55369238 |
158 | SYNE2 | 14 | 0.9994209612044 | 12 | 20724 | 64457693, 64457710-64457714, 64460553-64460554, 64518310-64518311, 64522843, 64587749 |
159 | EIF2B2 | 14 | 0.99810606060606 | 2 | 1056 | 75471484, 75471531 |
160 | ESRRB | 14 | 0.99934512115259 | 1 | 1527 | 76964706 |
161 | SPATA7 | 14 | 0.99444444444444 | 10 | 1800 | 88859830, 88883144-88883149, 88883154, 88883169, 88883173 |
162 | TTC8 | 14 | 0.99741602067183 | 4 | 1548 | 89337904-89337907 |
163 | ATXN3 | 14 | 0.98066298342541 | 21 | 1086 | 92537329-92537338, 92537354-92537358, 92537366, 92559645, 92559649-92559650, 92559661-92559662 |
164 | VRK1 | 14 | 0.98908480268682 | 13 | 1191 | 97304119, 97304143-97304154 |
165 | AMN | 14 | 0.98751835535977 | 17 | 1362 | 103396580, 103396583-103396584, 103396587, 103396590, 103396613, 103396913-103396916, 103396928-103396934 |
166 | INF2 | 14 | 0.92533333333333 | 280 | 3750 | 105173756, 105173762, 105173773, 105173779-105173781, 105173859-105174124, 105174185-105174190, 105174246, 105174324 |
167 | NIPA1 | 15 | 0.82020202020202 | 178 | 990 | 23086234-23086411 |
168 | UBE3A | 15 | 0.98439878234399 | 41 | 2628 | 25584284-25584292, 25601867-25601884, 25616251-25616257, 25616620-25616626 |
169 | TRPM1 | 15 | 0.99979218620116 | 1 | 4812 | 31320554 |
170 | CHST14 | 15 | 0.98496905393457 | 17 | 1131 | 40763429-40763438, 40763455-40763457, 40763498, 40763501, 40763508, 40763747 |
171 | TTBK2 | 15 | 0.99812583668005 | 7 | 3735 | 43103886-43103888, 43103897, 43103910-43103912 |
172 | STRC | 15 | 0.99643393393393 | 19 | 5328 | 43892194-43892200, 43905329, 43910867-43910872, 43910878-43910881, 43910888 |
173 | STRC | 15 | 0.99162479061977 | 5 | 597 | 44004787-44004791 |
174 | DUOX2 | 15 | 0.99655691844201 | 16 | 4647 | 45399072-45399087 |
175 | CEP152 | 15 | 0.99979859013092 | 1 | 4965 | 49036443 |
176 | CYP19A1 | 15 | 0.99074074074074 | 14 | 1512 | 51507967-51507980 |
177 | HCN4 | 15 | 0.98560354374308 | 52 | 3612 | 73614877-73614885, 73615034, 73615596, 73615599, 73616163-73616177, 73616188-73616193, 73660096-73660097, 73660103, 73660112-73660122, 73660512-73660516 |
178 | POLG | 15 | 0.99758064516129 | 9 | 3720 | 89876828-89876836 |
179 | MESP2 | 15 | 0.97738693467337 | 27 | 1194 | 90320121-90320146, 90320161 |
180 | HBZ | 16 | 0.83449883449883 | 71 | 429 | 203945-203975, 204302-204305, 204315-204350 |
181 | HBM | 16 | 0.99765258215962 | 1 | 426 | 216279 |
182 | GFER | 16 | 0.86084142394822 | 86 | 618 | 2034227-2034234, 2034298-2034327, 2034340-2034387 |
183 | TSC2 | 16 | 0.99760324483776 | 13 | 5424 | 2103345-2103348, 2103399, 2103407, 2111872-2111877, 2121868 |
184 | PKD1 | 16 | 0.93060718711276 | 896 | 12912 | 2140747, 2140958, 2140967-2140972, 2140975, 2140978-2140988, 2141013, 2141027, 2141137, 2141147-2141175, 2141818-2141827, 2147195-2147196, 2149672, 2149741-2149771, 2149862-2149879, 2149962-2149979, 2150019-2150025, 2150069-2150071, 2150245-2150256, 2150470-2150503, 2152086-2152092, 2152126-2152174, 2152605-2152611, 2153299-2153326, 2153592-2153598, 2153721-2153741, 2153764-2153782, 2153820-2153826, 2153848-2153874, 2154570-2154611, 2155426, 2155875-2155912, 2155981-2155987, 2156120-2156126, 2156248-2156254, 2156427-2156433, 2156590, 2156596, 2156599-2156600, 2156610, 2159144-2159150, 2159313-2159319, 2159403-2159409, 2159479-2159481, 2160718-2160734, 2160769-2160775, 2163179-2163185, 2164208-2164214, 2164805-2164838, 2165486-2165507, 2166563-2166595, 2166835-2166845, 2166915-2166921, 2166976-2166982, 2167797-2167835, 2167871-2167878, 2167969-2168000, 2168056-2168075, 2168141-2168170, 2168206-2168215, 2168254-2168271, 2169115, 2185552-2185562, 2185579-2185623, 2185659-2185690 |
185 | SLX4 | 16 | 0.99818346957312 | 10 | 5505 | 3639445-3639454 |
186 | CREBBP | 16 | 0.99317778687406 | 50 | 7329 | 3777808-3777811, 3778401-3778403, 3778409-3778445, 3778449-3778453, 3778953 |
187 | GLIS2 | 16 | 0.99174603174603 | 13 | 1575 | 4387036-4387040, 4387050-4387052, 4387055-4387058, 4387202 |
188 | ALG1 | 16 | 0.9405017921147 | 83 | 1395 | 5128860, 5128879, 5130969-5130999, 5132572-5132606, 5132636, 5134776-5134782, 5134815-5134821 |
189 | MYH11 | 16 | 0.9996632996633 | 2 | 5940 | 15839093-15839094 |
190 | ABCC6 | 16 | 0.98825354609929 | 53 | 4512 | 16308229-16308235, 16313531-16313539, 16315575-16315611 |
191 | UMOD | 16 | 0.99011960478419 | 19 | 1923 | 20360115-20360125, 20360129-20360132, 20360138-20360141 |
192 | OTOA | 16 | 0.99795321637427 | 7 | 3420 | 21768527-21768533 |
193 | OTOA | 16 | 0.9929718875502 | 7 | 996 | 22584667-22584673 |
194 | PHKG2 | 16 | 0.92219492219492 | 95 | 1221 | 30760142-30760236 |
195 | FUS | 16 | 0.99936748893106 | 1 | 1581 | 31195306 |
196 | CYLD | 16 | 0.99965059399022 | 1 | 2862 | 50811838 |
197 | SALL1 | 16 | 0.99069182389937 | 37 | 3975 | 51175644-51175676, 51175682-51175684, 51175687 |
198 | RPGRIP1L | 16 | 0.99848024316109 | 6 | 3948 | 53672225, 53682912-53682913, 53730162-53730164 |
199 | MMP2 | 16 | 0.99949571356531 | 1 | 1983 | 55513464 |
200 | CETP | 16 | 0.98785425101215 | 18 | 1482 | 57017506-57017523 |
201 | HSD11B2 | 16 | 0.8743842364532 | 153 | 1218 | 67465160-67465275, 67465295, 67465298-67465307, 67465313-67465320, 67469983, 67469987-67470002, 67470285 |
202 | CIRH1A | 16 | 0.99902959728287 | 2 | 2061 | 69173752-69173753 |
203 | COG8 | 16 | 0.9994562262099 | 1 | 1839 | 69364802 |
204 | TAT | 16 | 0.9970695970696 | 4 | 1365 | 71604714-71604717 |
205 | GAN | 16 | 0.99386845039019 | 11 | 1794 | 81348837-81348847 |
206 | MLYCD | 16 | 0.93252361673414 | 100 | 1482 | 83932808-83932823, 83932836-83932837, 83932847-83932894, 83932973-83933000, 83933082-83933086, 83933098 |
207 | FOXF1 | 16 | 0.99736842105263 | 3 | 1140 | 86544211-86544213 |
208 | JPH3 | 16 | 0.99287939474855 | 16 | 2247 | 87723683-87723687, 87723694-87723700, 87723707-87723710 |
209 | CYBA | 16 | 0.98299319727891 | 10 | 588 | 88709867-88709876 |
210 | GALNS | 16 | 0.9993626513703 | 1 | 1569 | 88923221 |
211 | SPG7 | 16 | 0.99706867671692 | 7 | 2388 | 89579413-89579416, 89579419-89579420, 89579423 |
212 | FANCA | 16 | 0.99931318681319 | 3 | 4368 | 89842213-89842215 |
213 | TUBB3 | 16 | 0.99852180339985 | 2 | 1353 | 90002030, 90002095 |
214 | ASPA | 17 | 0.99893842887473 | 1 | 942 | 3402370 |
215 | GP1BA | 17 | 0.99947916666667 | 1 | 1920 | 4837750 |
216 | PITPNM3 | 17 | 0.9965811965812 | 10 | 2925 | 6358765, 6358769, 6358776, 6358796-6358801, 6358919 |
217 | GUCY2D | 17 | 0.96829710144928 | 105 | 3312 | 7906366-7906390, 7906400-7906479 |
218 | HES7 | 17 | 0.99557522123894 | 3 | 678 | 8024999, 8025002-8025003 |
219 | MYH2 | 17 | 0.99776862341229 | 13 | 5826 | 10446431-10446434, 10446443-10446446, 10446469-10446473 |
220 | ELAC2 | 17 | 0.99637243047158 | 9 | 2481 | 12896189-12896197 |
221 | COX10 | 17 | 0.98873873873874 | 15 | 1332 | 14095306-14095312, 14095344-14095351 |
222 | RAI1 | 17 | 0.99563013459185 | 25 | 5721 | 17697099-17697102, 17697105, 17697114-17697133 |
223 | MYO15A | 17 | 0.99886717643727 | 12 | 10593 | 18024013, 18024040-18024043, 18024145, 18024774, 18049333-18049337 |
224 | UNC119 | 17 | 0.97233748271093 | 20 | 723 | 26879373, 26879376-26879378, 26879392, 26879400-26879403, 26879407, 26879412, 26879435, 26879441, 26879457-26879458, 26879494-26879495, 26879501-26879502, 26879509 |
225 | NF1 | 17 | 0.98908450704225 | 93 | 8520 | 29422328-29422329, 29422347-29422348, 29422367-29422369, 29422382-29422387, 29527566-29527572, 29546084, 29556221-29556258, 29586080-29586081, 29586091-29586093, 29586123-29586130, 29588748-29588768 |
226 | KRT10 | 17 | 0.98974358974359 | 18 | 1755 | 38975121-38975130, 38975136, 38975145-38975148, 38978766-38978768 |
227 | KRT14 | 17 | 0.9492600422833 | 72 | 1419 | 39738749-39738763, 39741304-39741309, 39742829-39742872, 39743030-39743036 |
228 | KRT16 | 17 | 0.92827004219409 | 102 | 1422 | 39766240-39766281, 39768412-39768418, 39768490-39768496, 39768658-39768664, 39768721-39768759 |
229 | KRT17 | 17 | 0.96843725943033 | 41 | 1299 | 39780414-39780440, 39780465-39780471, 39780516-39780522 |
230 | STAT5B | 17 | 0.99450084602369 | 13 | 2364 | 40371359-40371371 |
231 | SOST | 17 | 0.99844236760125 | 1 | 642 | 41832767 |
232 | GRN | 17 | 0.99775533108866 | 4 | 1782 | 42429884, 42430054-42430056 |
233 | PLEKHM1 | 17 | 0.99653106275623 | 11 | 3171 | 43531617-43531624, 43552537, 43552921, 43555372 |
234 | MAPT | 17 | 0.999570999571 | 1 | 2331 | 44073816 |
235 | WNT3 | 17 | 0.99906367041199 | 1 | 1068 | 44851210 |
236 | SGCA | 17 | 0.99914089347079 | 1 | 1164 | 48247650 |
237 | RAD51C | 17 | 0.99911582670203 | 1 | 1131 | 56770068 |
238 | BRIP1 | 17 | 0.99866666666667 | 5 | 3750 | 59793319-59793322, 59793406 |
239 | ACE | 17 | 0.99413414945167 | 23 | 3921 | 61554481-61554502, 61566095 |
240 | POLG2 | 17 | 0.99725651577503 | 4 | 1458 | 62476432-62476434, 62493015 |
241 | AXIN2 | 17 | 0.9980252764613 | 5 | 2532 | 63554542-63554546 |
242 | SOX9 | 17 | 0.99607843137255 | 6 | 1530 | 70120081, 70120111-70120115 |
243 | COG1 | 17 | 0.99626231736323 | 11 | 2943 | 71189259-71189262, 71189280, 71189314-71189316, 71189331, 71189359, 71189417 |
244 | ITGB4 | 17 | 0.99926860486378 | 4 | 5469 | 73751790-73751793 |
245 | UNC13D | 17 | 0.99847234952643 | 5 | 3273 | 73827374, 73827377, 73827380-73827382 |
246 | SEPT9 | 17 | 0.92277115275412 | 136 | 1761 | 75494605-75494740 |
247 | LAMA3 | 18 | 0.99880023995201 | 12 | 10002 | 21269658-21269662, 21269665, 21269673, 21269754-21269757, 21293884 |
248 | DSC3 | 18 | 0.99256781865478 | 20 | 2691 | 28598666-28598685 |
249 | DSG2 | 18 | 0.99910634495085 | 3 | 3357 | 29078233-29078235 |
250 | LOXHD1 | 18 | 0.97709463532248 | 152 | 6636 | 44126858-44127009 |
251 | MYO5B | 18 | 0.99206778438796 | 44 | 5547 | 47352944-47352980, 47364149-47364155 |
252 | SMAD4 | 18 | 0.99879445449066 | 2 | 1659 | 48593504, 48603095 |
253 | ATP8B1 | 18 | 0.99574014909478 | 16 | 3756 | 55398954-55398969 |
254 | RAX | 18 | 0.99903938520653 | 1 | 1041 | 56936558 |
255 | LMAN1 | 18 | 0.99478147423353 | 8 | 1533 | 57000414-57000420, 57000447 |
256 | CCBE1 | 18 | 0.996723996724 | 4 | 1221 | 57134040, 57134046, 57134058-57134059 |
257 | TNFRSF11A | 18 | 0.99459751485683 | 10 | 1851 | 59992598-59992606, 59992609 |
258 | CTDP1 | 18 | 0.999306999307 | 2 | 2886 | 77440008, 77440012 |
259 | ELANE | 19 | 0.86691542288557 | 107 | 804 | 853262-853367, 853403 |
260 | KISS1R | 19 | 0.92564745196324 | 89 | 1197 | 918646, 918657-918658, 920314-920353, 920382, 920393-920395, 920400-920414, 920420, 920424-920427, 920580-920583, 920602, 920605, 920611, 920631, 920636, 920642-920645, 920723-920727, 920732-920735 |
261 | MAP2K2 | 19 | 0.92352452202826 | 92 | 1203 | 4123781-4123872 |
262 | TUBB4 | 19 | 0.98801498127341 | 16 | 1335 | 6495566-6495567, 6495576-6495581, 6495592-6495595, 6495602-6495605 |
263 | C3 | 19 | 0.99519230769231 | 24 | 4992 | 6707092, 6707100-6707104, 6707114-6707127, 6709722-6709725 |
264 | INSR | 19 | 0.99445649554109 | 23 | 4149 | 7184495, 7293869-7293879, 7293883-7293893 |
265 | PNPLA6 | 19 | 0.99548192771084 | 18 | 3984 | 7605174-7605189, 7615914-7615915 |
266 | PRKCSH | 19 | 0.99621928166352 | 6 | 1587 | 11558341-11558346 |
267 | CACNA1A | 19 | 0.98351283074059 | 124 | 7521 | 13318569, 13318670, 13318673-13318691, 13318702-13318705, 13318712, 13318779-13318813, 13318820-13318865, 13319692-13319697, 13409588-13409590, 13409605, 13414642-13414648 |
268 | NOTCH3 | 19 | 0.99454493252943 | 38 | 6966 | 15281355-15281358, 15311619-15311621, 15311632, 15311635-15311641, 15311646-15311652, 15311660-15311666, 15311676-15311681, 15311696-15311698 |
269 | JAK3 | 19 | 0.99911111111111 | 3 | 3375 | 17940937-17940938, 17945483 |
270 | SLC5A5 | 19 | 0.99948240165631 | 1 | 1932 | 17984965 |
271 | COMP | 19 | 0.99956024626209 | 1 | 2274 | 18900759 |
272 | CEBPA | 19 | 0.93964716805942 | 65 | 1077 | 33792757, 33792766, 33792985, 33792988, 33792999-33793001, 33793004-33793010, 33793013-33793015, 33793020, 33793143-33793145, 33793167, 33793171-33793180, 33793184, 33793187-33793217, 33793248 |
273 | SCN1B | 19 | 0.95043370508055 | 40 | 807 | 35521725-35521764 |
274 | WDR62 | 19 | 0.99912510936133 | 4 | 4572 | 36583671-36583674 |
275 | RYR1 | 19 | 0.99794932857048 | 31 | 15117 | 38931386, 38931391-38931393, 38931448, 38985070, 38993169, 38993172, 39014562-39014564, 39037108, 39055749-39055755, 39055760, 39055764-39055770, 39055890, 39055895, 39055899, 39055908 |
276 | PRX | 19 | 0.99475604195166 | 23 | 4386 | 40901321-40901330, 40909681-40909685, 40909692-40909693, 40909699, 40909709, 40909753, 40909767-40909769 |
277 | TGFB1 | 19 | 0.99914748508099 | 1 | 1173 | 41858751 |
278 | ATP1A3 | 19 | 0.99918433931485 | 3 | 3678 | 42470836, 42470997, 42471019 |
279 | BCAM | 19 | 0.99470058293588 | 10 | 1887 | 45321861-45321862, 45324038-45324040, 45324075-45324079 |
280 | SIX5 | 19 | 0.9954954954955 | 10 | 2220 | 46270019, 46272023, 46272037-46272044 |
281 | DMPK | 19 | 0.94867724867725 | 97 | 1890 | 46285488-46285495, 46285502-46285555, 46285576-46285610 |
282 | DBP | 19 | 0.94069529652352 | 58 | 978 | 49138837-49138883, 49138892-49138893, 49138937, 49138940-49138943, 49138946, 49139009-49139010, 49139074 |
283 | MED25 | 19 | 0.99866310160428 | 3 | 2244 | 50333777, 50334130-50334131 |
284 | PNKP | 19 | 0.99233716475096 | 12 | 1566 | 50365640-50365651 |
285 | KCNC3 | 19 | 0.8570800351803 | 325 | 2274 | 50823503-50823585, 50826278, 50826292, 50826438, 50831522-50831524, 50831528, 50831554, 50831583, 50831591-50831594, 50831638-50831640, 50831706-50831715, 50831739, 50831743, 50831750, 50831757-50831761, 50831878, 50831901, 50831942-50831966, 50831993-50831998, 50832006-50832011, 50832025-50832028, 50832141-50832145, 50832180-50832339 |
286 | NLRP12 | 19 | 0.99529190207156 | 15 | 3186 | 54313662, 54313665, 54313855-54313860, 54313870-54313875, 54313884 |
287 | PRKCG | 19 | 0.97086914995224 | 61 | 2094 | 54393143, 54393146-54393148, 54393160, 54393163-54393169, 54393172, 54393191-54393192, 54393219-54393223, 54393231-54393271 |
288 | TSEN34 | 19 | 0.9903536977492 | 9 | 933 | 54695337, 54697188-54697195 |
289 | NLRP7 | 19 | 0.99229287090559 | 24 | 3114 | 55450724-55450740, 55451167-55451173 |
290 | TNNT1 | 19 | 0.99746514575412 | 2 | 789 | 55652312, 55657813 |
291 | TNNI3 | 19 | 0.98850574712644 | 7 | 609 | 55665492-55665498 |
292 | KLF11 | 2 | 0.98960363872645 | 16 | 1539 | 10183860-10183865, 10183871-10183880 |
293 | APOB | 2 | 0.99780893952673 | 30 | 13692 | 21233076-21233077, 21255241-21255258, 21266775-21266783, 21266803 |
294 | POMC | 2 | 0.98880597014925 | 9 | 804 | 25384469-25384477 |
295 | HADHB | 2 | 0.99298245614035 | 10 | 1425 | 26477130-26477139 |
296 | OTOF | 2 | 0.98448448448448 | 93 | 5994 | 26697412-26697414, 26697417-26697418, 26699759-26699778, 26699788, 26699802-26699811, 26699822-26699830, 26699845-26699859, 26699872-26699904 |
297 | C2orf71 | 2 | 0.99896560641324 | 4 | 3867 | 29293895-29293898 |
298 | ALK | 2 | 0.99958873123586 | 2 | 4863 | 29451757, 29451796 |
299 | SPAST | 2 | 0.91572123176661 | 156 | 1851 | 32289013-32289036, 32289083-32289102, 32289113, 32289126-32289129, 32289139-32289228, 32289232-32289242, 32289247-32289249, 32340806, 32340831, 32341208 |
300 | SOS1 | 2 | 0.99975012493753 | 1 | 4002 | 39224501 |
301 | MSH2 | 2 | 0.9982174688057 | 5 | 2805 | 47639652, 47641451-47641454 |
302 | MSH6 | 2 | 0.97697771246632 | 94 | 4083 | 48010420, 48010438-48010471, 48010525-48010539, 48010547-48010582, 48023122-48023129 |
303 | LHCGR | 2 | 0.99809523809524 | 4 | 2100 | 48982784-48982787 |
304 | NRXN1 | 2 | 0.99954802259887 | 2 | 4425 | 50765567-50765568 |
305 | EFEMP1 | 2 | 0.99055330634278 | 14 | 1482 | 56102083, 56102097, 56102180, 56102184, 56103835-56103842, 56144955-56144956 |
306 | FANCL | 2 | 0.99379432624113 | 7 | 1128 | 58392918-58392924 |
307 | ATP6V1B1 | 2 | 0.99870298313878 | 2 | 1542 | 71163132, 71163136 |
308 | ALMS1 | 2 | 0.99672104926424 | 41 | 12504 | 73613002-73613003, 73613008, 73613015-73613041, 73613050-73613052, 73827996-73828002, 73828342 |
309 | MOGS | 2 | 0.99880668257757 | 3 | 2514 | 74689081-74689083 |
310 | GGCX | 2 | 0.99648660518226 | 8 | 2277 | 85788523-85788530 |
311 | SFTPB | 2 | 0.99738219895288 | 3 | 1146 | 85895264-85895266 |
312 | REEP1 | 2 | 0.98349834983498 | 10 | 606 | 86564605, 86564615-86564618, 86564629-86564633 |
313 | EIF2AK3 | 2 | 0.99910474485228 | 3 | 3351 | 88926730-88926732 |
314 | RANBP2 | 2 | 0.91720930232558 | 801 | 9675 | 109347316-109347341, 109347874-109347894, 109351990-109352029, 109352701, 109357029-109357056, 109357069-109357116, 109365423-109365429, 109365544-109365573, 109367754, 109367831-109367847, 109368046-109368052, 109368074-109368110, 109368430-109368440, 109369543-109369561, 109369942-109369948, 109370369-109370401, 109371483-109371512, 109371632-109371662, 109371682-109371715, 109374869-109374872, 109374901-109374918, 109378633, 109382787-109382793, 109382840-109382846, 109382889-109382913, 109382937-109382946, 109383000-109383006, 109383032-109383058, 109383107-109383148, 109383204-109383210, 109383268-109383274, 109383295-109383321, 109383354-109383360, 109383672-109383708, 109383768-109383798, 109383822-109383828, 109383885-109383891, 109383980-109384013, 109384164-109384170, 109384466-109384472, 109384505-109384511, 109384561-109384567, 109384597-109384615, 109384628-109384634, 109399144-109399147, 109399157-109399159 |
315 | NPHP1 | 2 | 0.99410029498525 | 12 | 2034 | 110917774-110917785 |
316 | MERTK | 2 | 0.99366666666667 | 19 | 3000 | 112656315-112656317, 112656320-112656330, 112722768-112722770, 112786428, 112786441 |
317 | GLI2 | 2 | 0.99537912203319 | 22 | 4761 | 121746116, 121746168-121746174, 121746177-121746183, 121746219, 121746243-121746247, 121746252 |
318 | PROC | 2 | 0.99062049062049 | 13 | 1386 | 128180494, 128180509, 128180700-128180701, 128180705, 128180722-128180723, 128180726-128180731 |
319 | CFC1 | 2 | 0.99702380952381 | 2 | 672 | 131280380, 131280383 |
320 | LCT | 2 | 0.99982710926694 | 1 | 5784 | 136564742 |
321 | MCM6 | 2 | 0.99959448499594 | 1 | 2466 | 136627931 |
322 | MMADHC | 2 | 0.98540965207632 | 13 | 891 | 150432225-150432233, 150432969-150432972 |
323 | NEB | 2 | 0.99634524882347 | 73 | 19974 | 152432726-152432731, 152432735, 152432739-152432745, 152432755-152432761, 152432769-152432772, 152432783-152432820, 152432864, 152515580-152515587, 152515595 |
324 | SCN2A | 2 | 0.99318710535061 | 41 | 6018 | 166167009-166167024, 166172086-166172098, 166221766, 166234112-166234117, 166237610-166237614 |
325 | GALNT3 | 2 | 0.99474237644585 | 10 | 1902 | 166611173, 166611176, 166611179-166611180, 166611191-166611194, 166621565-166621566 |
326 | SCN9A | 2 | 0.99460734748905 | 32 | 5934 | 167060963, 167060974, 167083122-167083137, 167083147-167083151, 167083198-167083206 |
327 | HOXD13 | 2 | 0.99903100775194 | 1 | 1032 | 176957972 |
328 | AGPS | 2 | 0.95852301466869 | 82 | 1977 | 178346814-178346871, 178346880-178346899, 178362490-178362493 |
329 | TTN | 2 | 0.99961096480728 | 39 | 100248 | 179466239-179466250, 179523794-179523802, 179542478, 179543206, 179633485-179633500 |
330 | COL3A1 | 2 | 0.99022949329698 | 43 | 4401 | 189849969-189849973, 189854149-189854157, 189856917, 189868756, 189868760-189868763, 189871663-189871681, 189871692-189871695 |
331 | PMS1 | 2 | 0.99857091818507 | 4 | 2799 | 190718770, 190718807-190718808, 190728731 |
332 | CASP8 | 2 | 0.98763141620284 | 20 | 1617 | 202149585, 202149617-202149635 |
333 | BMPR2 | 2 | 0.99935835739493 | 2 | 3117 | 203384863, 203384866 |
334 | ABCA12 | 2 | 0.9989727786338 | 8 | 7788 | 215809769, 215809816-215809819, 215809826-215809828 |
335 | SMARCAL1 | 2 | 0.99755671902269 | 7 | 2865 | 217347531-217347534, 217347542, 217347552, 217347565 |
336 | WNT10A | 2 | 0.99681020733652 | 4 | 1254 | 219745752-219745755 |
337 | OBSL1 | 2 | 0.99964856791425 | 2 | 5691 | 220435670, 220435781 |
338 | COL4A4 | 2 | 0.99980252764613 | 1 | 5064 | 227942774 |
339 | CHRND | 2 | 0.997425997426 | 4 | 1554 | 233390930-233390931, 233390934-233390935 |
340 | AGXT | 2 | 0.9991518235793 | 1 | 1179 | 241808308 |
341 | D2HGDH | 2 | 0.99361430395913 | 10 | 1566 | 242689575-242689583, 242707237 |
342 | C20orf54 | 20 | 0.97730496453901 | 32 | 1410 | 744354-744385 |
343 | AVP | 20 | 0.84848484848485 | 75 | 495 | 3063386-3063391, 3063398-3063404, 3063623-3063636, 3063647, 3063657, 3063660-3063664, 3063668-3063682, 3063716-3063720, 3063772, 3063775-3063782, 3063786, 3063790-3063793, 3063813-3063819 |
344 | PANK2 | 20 | 0.9877408056042 | 21 | 1713 | 3870227-3870228, 3870244-3870257, 3870263, 3870267-3870270 |
345 | C20orf7 | 20 | 0.99132947976879 | 9 | 1038 | 13782208, 13782211-13782218 |
346 | SNTA1 | 20 | 0.98880105401845 | 17 | 1518 | 32031224, 32031382-32031391, 32031401-32031406 |
347 | HNF4A | 20 | 0.99228070175439 | 11 | 1425 | 43052772-43052782 |
348 | CTSA | 20 | 0.99799599198397 | 3 | 1497 | 44520238-44520240 |
349 | SALL4 | 20 | 0.99905123339658 | 3 | 3162 | 50418882-50418884 |
350 | COL9A3 | 20 | 0.9985401459854 | 3 | 2055 | 61456372, 61461904-61461905 |
351 | SOX18 | 20 | 0.68917748917749 | 359 | 1155 | 62680088, 62680512-62680869 |
352 | BACH1 | 21 | 0.99728629579376 | 6 | 2211 | 30715035-30715040 |
353 | IFNGR2 | 21 | 0.96351084812623 | 37 | 1014 | 34775858-34775868, 34775871, 34775876, 34775887-34775894, 34775897-34775902, 34775906-34775909, 34775912-34775917 |
354 | RCAN1 | 21 | 0.99868247694335 | 1 | 759 | 35987214 |
355 | RUNX1 | 21 | 0.998613998614 | 2 | 1443 | 36164517, 36259354 |
356 | HLCS | 21 | 0.99770747363595 | 5 | 2181 | 38309515-38309519 |
357 | CBS | 21 | 0.9957729468599 | 7 | 1656 | 44492115-44492121 |
358 | AIRE | 21 | 0.96703296703297 | 54 | 1638 | 45712879, 45712884, 45712930-45712931, 45712942-45712945, 45712983-45712992, 45713013-45713035, 45713046-45713058 |
359 | ITGB2 | 21 | 0.9982683982684 | 4 | 2310 | 46308630, 46308659, 46308663, 46308721 |
360 | COL18A1 | 21 | 0.99620132953466 | 20 | 5265 | 46875483-46875499, 46876562, 46927489, 46931080 |
361 | COL6A1 | 21 | 0.98736637512148 | 39 | 3087 | 47401809-47401815, 47410172-47410189, 47410323-47410336 |
362 | COL6A2 | 21 | 0.99934640522876 | 2 | 3060 | 47531486-47531487 |
363 | PCNT | 21 | 0.99270802117671 | 73 | 10011 | 47754408-47754473, 47754494-47754500 |
364 | PEX26 | 22 | 0.99782135076253 | 2 | 918 | 18561225-18561226 |
365 | PRODH | 22 | 0.99556295063783 | 8 | 1803 | 18905842, 18923545-18923550, 18923565 |
366 | GP1BB | 22 | 0.94847020933977 | 32 | 621 | 19711651, 19711679, 19711682-19711692, 19711784-19711789, 19711809, 19711814-19711823, 19711831, 19711902 |
367 | TBX1 | 22 | 0.87365591397849 | 188 | 1488 | 19748428-19748599, 19748666-19748669, 19753505, 19753510-19753512, 19753968, 19754240-19754242, 19754245-19754248 |
368 | CHEK2 | 22 | 0.93469619534355 | 115 | 1761 | 29083906-29083917, 29083946-29083965, 29085135-29085171, 29091173-29091203, 29091737-29091743, 29091837-29091844 |
369 | NF2 | 22 | 0.99608501118568 | 7 | 1788 | 30074303-30074309 |
370 | LARGE | 22 | 0.99735799207398 | 6 | 2271 | 33700336-33700338, 33700342-33700344 |
371 | MYH9 | 22 | 0.99983001869794 | 1 | 5883 | 36688090 |
372 | TRIOBP | 22 | 0.96759650605804 | 230 | 7098 | 38119846-38119862, 38119879-38119905, 38120006, 38120140-38120156, 38120172-38120199, 38120297-38120346, 38120417-38120453, 38120482-38120485, 38120542, 38120666-38120710, 38122448, 38165151-38165152 |
373 | PLA2G6 | 22 | 0.99339116067741 | 16 | 2421 | 38531017-38531032 |
374 | EP300 | 22 | 0.99889579020014 | 8 | 7245 | 41533734-41533741 |
375 | TNFRSF13C | 22 | 0.92792792792793 | 40 | 555 | 42322247-42322262, 42322269-42322278, 42322293-42322296, 42322301-42322305, 42322316-42322320 |
376 | CYB5R3 | 22 | 0.98896247240618 | 10 | 906 | 43045312-43045321 |
377 | MLC1 | 22 | 0.96913580246914 | 35 | 1134 | 50502463-50502494, 50502593-50502595 |
378 | TYMP | 22 | 0.97308488612836 | 39 | 1449 | 50964248, 50964262-50964263, 50964451, 50964463-50964466, 50964486, 50964489, 50964492, 50964512-50964520, 50964546, 50964700, 50964808-50964824 |
379 | ARSA | 22 | 0.99475065616798 | 8 | 1524 | 51063695, 51063811-51063817 |
380 | SHANK3 | 22 | 0.83562166285278 | 862 | 5244 | 51113070-51113132, 51135957-51136143, 51158721-51159041, 51159076-51159077, 51159080, 51159083-51159085, 51159093-51159094, 51159097-51159101, 51159108, 51159150-51159161, 51159166-51159187, 51159324, 51169180-51169225, 51169300, 51169324-51169331, 51169432-51169448, 51169480-51169533, 51169549-51169584, 51169606-51169635, 51169659-51169667, 51169671-51169673, 51169683-51169687, 51169708-51169740 |
381 | FANCD2 | 3 | 0.99275362318841 | 32 | 4416 | 10088296-10088311, 10091150-10091156, 10114941-10114949 |
382 | RAF1 | 3 | 0.9994863893169 | 1 | 1947 | 12650834 |
383 | CRTAP | 3 | 0.99336650082919 | 8 | 1206 | 33155787, 33155883-33155889 |
384 | MLH1 | 3 | 0.99955966534566 | 1 | 2271 | 37067184 |
385 | TMIE | 3 | 0.98089171974522 | 9 | 471 | 46751074-46751082 |
386 | COL7A1 | 3 | 0.99932088285229 | 6 | 8835 | 48627056-48627057, 48627066-48627068, 48627076 |
387 | GNAT1 | 3 | 0.99525166191833 | 5 | 1053 | 50229228-50229231, 50229239 |
388 | RFT1 | 3 | 0.99753997539975 | 4 | 1626 | 53138089-53138090, 53156437, 53156486 |
389 | TKT | 3 | 0.9957264957265 | 8 | 1872 | 53262341-53262348 |
390 | ATXN7 | 3 | 0.8985200845666 | 288 | 2838 | 63898275-63898403, 63898410-63898411, 63898420-63898424, 63898434-63898441, 63898449-63898591, 63898883 |
391 | GBE1 | 3 | 0.94215267899478 | 122 | 2109 | 81754625, 81754644-81754764 |
392 | PROS1 | 3 | 0.98276710979813 | 35 | 2031 | 93595964-93595993, 93596002-93596006 |
393 | ARL13B | 3 | 0.998445998446 | 2 | 1287 | 93762026, 93762084 |
394 | ARL6 | 3 | 0.98752228163993 | 7 | 561 | 97503811-97503817 |
395 | NPHP3 | 3 | 0.96218382168795 | 151 | 3993 | 132438549-132438674, 132441009, 132441037, 132441045-132441052, 132441056, 132441063-132441064, 132441067-132441068, 132441117-132441126 |
396 | FOXL2 | 3 | 0.95667550839965 | 49 | 1131 | 138664660-138664680, 138664707, 138664726, 138664793-138664794, 138664816, 138664819, 138664864-138664874, 138664878, 138664884-138664887, 138664890, 138665034, 138665045-138665046, 138665051-138665052 |
397 | PLOD2 | 3 | 0.99692577953448 | 7 | 2277 | 145804574-145804577, 145804632, 145804690, 145804695 |
398 | CLRN1 | 3 | 0.97997138769671 | 14 | 699 | 150645916-150645929 |
399 | IFT80 | 3 | 0.99613402061856 | 9 | 2328 | 160037688-160037695, 160075341 |
400 | SLC2A2 | 3 | 0.99936507936508 | 1 | 1575 | 170716883 |
401 | GHSR | 3 | 0.98910081743869 | 12 | 1101 | 172163088-172163099 |
402 | SOX2 | 3 | 0.99475890985325 | 5 | 954 | 181430206-181430208, 181430223, 181430228 |
403 | IDUA | 4 | 0.99898063200815 | 2 | 1962 | 981637, 997173 |
404 | FGFR3 | 4 | 0.99958796868562 | 1 | 2427 | 1803645 |
405 | SH3BP2 | 4 | 0.99623047926764 | 7 | 1857 | 2819973-2819979 |
406 | HTT | 4 | 0.98790964047089 | 114 | 9429 | 3076605-3076647, 3076650-3076666, 3076669-3076672, 3076684-3076702, 3076709-3076715, 3076728-3076744, 3076766-3076772 |
407 | DOK7 | 4 | 0.98151815181518 | 28 | 1515 | 3465116, 3465241, 3465252-3465277 |
408 | MSX1 | 4 | 0.99671052631579 | 3 | 912 | 4861907, 4861968-4861969 |
409 | EVC | 4 | 0.99865726753944 | 4 | 2979 | 5713180, 5713227, 5754653-5754654 |
410 | CNGA1 | 4 | 0.98947368421053 | 24 | 2280 | 47954609, 47954613-47954619, 47954669-47954683, 47972924 |
411 | SGCB | 4 | 0.99791013584117 | 2 | 957 | 52904402-52904403 |
412 | SLC4A4 | 4 | 0.99939117199391 | 2 | 3285 | 72352665-72352666 |
413 | PKD2 | 4 | 0.97592019263846 | 70 | 2907 | 88928933-88928961, 88928977-88929017 |
414 | SNCA | 4 | 0.88179669030733 | 50 | 423 | 90743497-90743504, 90749294-90749335 |
415 | MANBA | 4 | 0.99280303030303 | 19 | 2640 | 103611767-103611779, 103611790-103611793, 103611801, 103611804 |
416 | CISD2 | 4 | 0.92156862745098 | 32 | 408 | 103808498-103808522, 103808569-103808575 |
417 | ANK2 | 4 | 0.99941047667172 | 7 | 11874 | 114161651, 114161654, 114161657, 114161661-114161664 |
418 | BBS7 | 4 | 0.99487895716946 | 11 | 2148 | 122766675, 122775907, 122775916-122775918, 122775970-122775971, 122782809-122782812 |
419 | FGB | 4 | 0.99932249322493 | 1 | 1476 | 155484279 |
420 | CTSO | 4 | 0.99585921325052 | 4 | 966 | 156863570-156863573 |
421 | GLRB | 4 | 0.94846050870147 | 77 | 1494 | 158041708-158041741, 158041751-158041793 |
422 | GK | 4 | 0.9488567990373 | 85 | 1662 | 166199162-166199179, 166199345, 166199361, 166199426-166199469, 166199558-166199569, 166200028, 166200063, 166200504-166200510 |
423 | SDHA | 5 | 0.95238095238095 | 95 | 1995 | 224630-224636, 228378-228399, 233592-233598, 236673-236681, 251107-251114, 251143-251149, 251500-251506, 254526-254532, 254571-254577, 256469-256475, 256511-256517 |
424 | TERT | 5 | 0.97999411591645 | 68 | 3399 | 1294611, 1294668-1294704, 1294718-1294735, 1295063-1295066, 1295075-1295082 |
425 | SDHA | 5 | 0.95718654434251 | 14 | 327 | 1593261-1593267, 1593352-1593358 |
426 | DNAH5 | 5 | 0.99618018018018 | 53 | 13875 | 13810318, 13841157-13841165, 13914651-13914664, 13916457-13916461, 13916516-13916517, 13916523-13916544 |
427 | AMACR | 5 | 0.99825935596171 | 2 | 1149 | 34007929, 34007977 |
428 | NIPBL | 5 | 0.96470588235294 | 297 | 8415 | 37016169-37016172, 37016183, 37017126-37017128, 37024778-37024790, 37036481-37036589, 37044801-37044809, 37048604-37048742, 37048761-37048762, 37048772-37048773, 37064895-37064909 |
429 | LIFR | 5 | 0.9802671523983 | 65 | 3294 | 38482691-38482692, 38482722, 38482728, 38482737-38482749, 38482752-38482769, 38506043, 38506046-38506053, 38506066-38506083, 38506085-38506087 |
430 | OXCT1 | 5 | 0.94433781190019 | 87 | 1563 | 41862744-41862786, 41862789-41862792, 41862798-41862823, 41862827-41862831, 41862842-41862850 |
431 | ERCC8 | 5 | 0.99748110831234 | 3 | 1191 | 60186811, 60200642-60200643 |
432 | NDUFAF2 | 5 | 0.99607843137255 | 2 | 510 | 60448603-60448604 |
433 | SMN2 | 5 | 0.97966101694915 | 18 | 885 | 69362945-69362961, 69372353 |
434 | SMN2 | 5 | 0.98079096045198 | 17 | 885 | 70238369-70238385 |
435 | MCCC2 | 5 | 0.99231678486998 | 13 | 1692 | 70900277-70900289 |
436 | HEXB | 5 | 0.98803111909037 | 20 | 1671 | 73981094-73981113 |
437 | AP3B1 | 5 | 0.99147640791476 | 28 | 3285 | 77412011, 77471519, 77471616-77471619, 77521380, 77536760, 77563393-77563396, 77563404-77563419 |
438 | VCAN | 5 | 0.99980374840546 | 2 | 10191 | 82836218-82836219 |
439 | RASA1 | 5 | 0.95706106870229 | 135 | 3144 | 86669980-86669984, 86669999-86670005, 86670015-86670137 |
440 | MEF2C | 5 | 0.98804500703235 | 17 | 1422 | 88024374, 88024391-88024398, 88024405-88024411, 88024417 |
441 | GPR98 | 5 | 0.99836160879446 | 31 | 18921 | 89914967-89914969, 89925143-89925149, 89941796-89941797, 89941842, 89971911-89971914, 90049542, 90049556, 90074337, 90101117-90101120, 90144505, 90144562-90144564, 90144595, 90144635, 90261251 |
442 | PCSK1 | 5 | 0.99867374005305 | 3 | 2262 | 95764945-95764947 |
443 | WDR36 | 5 | 0.99299719887955 | 20 | 2856 | 110432801, 110436324, 110436340-110436342, 110436352, 110436356-110436363, 110436374-110436377, 110436384-110436385 |
444 | APC | 5 | 0.99894514767932 | 9 | 8532 | 112111326-112111327, 112128143-112128144, 112128154, 112128157, 112128179, 112128183, 112128186 |
445 | HSD17B4 | 5 | 0.99683401175938 | 7 | 2211 | 118867066-118867072 |
446 | FBN2 | 5 | 0.99370637372697 | 55 | 8739 | 127645707-127645713, 127681229-127681248, 127702072-127702073, 127702079-127702103, 127702120 |
447 | TGFBI | 5 | 0.9995126705653 | 1 | 2052 | 135364878 |
448 | MYOT | 5 | 0.98463593854375 | 23 | 1497 | 137221737-137221756, 137221798, 137221809, 137221858 |
449 | MATR3 | 5 | 0.99764150943396 | 6 | 2544 | 138658510-138658515 |
450 | NDUFA2 | 5 | 0.98666666666667 | 4 | 300 | 140027143-140027145, 140027148 |
451 | DIAPH1 | 5 | 0.99450117831893 | 21 | 3819 | 140953397-140953399, 140953425-140953426, 140953440, 140953519, 140953564-140953572, 140953575-140953576, 140953586, 140962831-140962832 |
452 | PPP2R2B | 5 | 0.98948948948949 | 14 | 1332 | 146077569-146077582 |
453 | GRM6 | 5 | 0.9791192103265 | 55 | 2634 | 178421742, 178421750, 178421764, 178421769-178421770, 178421863, 178421869-178421873, 178421893-178421919, 178421929-178421945 |
454 | SQSTM1 | 5 | 0.99848828420257 | 2 | 1323 | 179248005, 179248010 |
455 | FLT4 | 5 | 0.99389051808407 | 25 | 4092 | 180057747-180057751, 180076526-180076545 |
456 | FOXC1 | 6 | 0.97894103489771 | 35 | 1662 | 1611659, 1611692, 1611698-1611704, 1611707-1611710, 1611713-1611724, 1612018-1612027 |
457 | TUBB2B | 6 | 0.96337817638266 | 49 | 1338 | 3225438-3225478, 3225602-3225609 |
458 | GCM2 | 6 | 0.99934253780408 | 1 | 1521 | 10874472 |
459 | ATXN1 | 6 | 0.97753267973856 | 55 | 2448 | 16327863-16327868, 16327876-16327896, 16327919-16327927, 16327930-16327943, 16327946-16327947, 16327953-16327955 |
460 | TNXB | 6 | 0.9751166407465 | 48 | 1929 | 31977552, 31978782-31978815, 31979413-31979423, 31980000, 31980074 |
461 | CYP21A2 | 6 | 0.99462365591398 | 8 | 1488 | 32006317, 32006337, 32007323-32007328 |
462 | TNXB | 6 | 0.9988215884987 | 15 | 12729 | 32010043-32010044, 32012267-32012274, 32018088, 32046810-32046813 |
463 | HLA-DQA1 | 6 | 0.734375 | 204 | 768 | 32605271-32605274, 32609166-32609315, 32609949-32609977, 32609999-32610012, 32610492-32610498 |
464 | HLA-DQB1 | 6 | 0.66666666666667 | 262 | 786 | 32629124-32629173, 32629190-32629213, 32629227, 32629844-32629908, 32629932-32629958, 32634279-32634358, 32634370-32634384 |
465 | COL11A2 | 6 | 0.99616196507388 | 20 | 5211 | 33137218-33137232, 33138123-33138124, 33138127, 33140356-33140357 |
466 | SYNGAP1 | 6 | 0.91666666666667 | 336 | 4032 | 33388042-33388108, 33393590, 33393594, 33393606-33393619, 33393631-33393635, 33393637-33393642, 33393645, 33393656-33393680, 33410906, 33410982-33410985, 33411488-33411698 |
467 | MOCS1 | 6 | 0.99738356881214 | 5 | 1911 | 39874703-39874707 |
468 | RUNX2 | 6 | 0.96807151979566 | 50 | 1566 | 45390442, 45390445-45390449, 45390456-45390461, 45390464-45390466, 45390469, 45390472-45390480, 45390486-45390491, 45390504-45390510, 45390515-45390520, 45390523-45390528 |
469 | CD2AP | 6 | 0.99010416666667 | 19 | 1920 | 47549772-47549784, 47563646-47563649, 47563692, 47563706 |
470 | MUT | 6 | 0.96493564136707 | 79 | 2253 | 49409574-49409636, 49415388-49415400, 49416556-49416557, 49419278 |
471 | PKHD1 | 6 | 0.9921472392638 | 96 | 12225 | 51929753-51929848 |
472 | EYS | 6 | 0.98717541070482 | 121 | 9435 | 64940569-64940580, 65523326-65523357, 65523399-65523434, 65596626, 66005836-66005839, 66005848, 66005857, 66005885-66005900, 66005922-66005939 |
473 | LMBRD1 | 6 | 0.99938385705484 | 1 | 1623 | 70410729 |
474 | RIMS1 | 6 | 0.99901555424296 | 5 | 5079 | 72974743, 72974746, 72974749, 73108792-73108793 |
475 | LCA5 | 6 | 0.99952244508118 | 1 | 2094 | 80196815 |
476 | BCKDHB | 6 | 0.99491094147583 | 6 | 1179 | 80881025, 80881028, 80881066, 80881093-80881095 |
477 | SLC35A1 | 6 | 0.99605522682446 | 4 | 1014 | 88210377-88210378, 88210876-88210877 |
478 | SEC63 | 6 | 0.99299167761717 | 16 | 2283 | 108218919-108218934 |
479 | OSTM1 | 6 | 0.99900497512438 | 1 | 1005 | 108366006 |
480 | FIG4 | 6 | 0.9985315712188 | 4 | 2724 | 110081478-110081481 |
481 | WISP3 | 6 | 0.99910634495085 | 1 | 1119 | 112386086 |
482 | ENPP1 | 6 | 0.98704103671706 | 36 | 2778 | 132129187, 132129193, 132171184, 132171187-132171190, 132203494-132203517, 132203568-132203572 |
483 | EYA4 | 6 | 0.99635416666667 | 7 | 1920 | 133769280, 133769283-133769287, 133769290 |
484 | PEX7 | 6 | 0.91666666666667 | 81 | 972 | 137167222-137167293, 137167311-137167319 |
485 | EPM2A | 6 | 0.98393574297189 | 16 | 996 | 146056484-146056492, 146056502, 146056514-146056519 |
486 | SYNE1 | 6 | 0.99916647722967 | 22 | 26394 | 152529277-152529279, 152545790-152545796, 152716679-152716682, 152737829-152737832, 152748859, 152774736-152774738 |
487 | PARK2 | 6 | 0.9656652360515 | 48 | 1398 | 161969945-161969992 |
488 | TBP | 6 | 0.92843137254902 | 73 | 1020 | 170871008-170871014, 170871025, 170871028, 170871031, 170871034, 170871037-170871091, 170871097-170871102, 170871107 |
489 | LFNG | 7 | 0.80964912280702 | 217 | 1140 | 2559496-2559554, 2559575-2559576, 2559580, 2559594-2559639, 2559650-2559680, 2559698-2559704, 2559718, 2559748, 2559759-2559784, 2559792-2559794, 2559799-2559813, 2559823-2559841, 2559876-2559881 |
490 | PMS2 | 7 | 0.97025878717652 | 77 | 2589 | 6013045-6013052, 6013149-6013156, 6026905-6026918, 6026988, 6027002, 6045523-6045529, 6045563-6045600 |
491 | TWIST1 | 7 | 0.7487684729064 | 153 | 609 | 19156550, 19156793-19156944 |
492 | DNAH11 | 7 | 0.99764220453876 | 32 | 13572 | 21630557-21630576, 21630580, 21630583-21630584, 21630616, 21847644-21847651 |
493 | HOXA13 | 7 | 0.81319622964867 | 218 | 1167 | 27239312, 27239315-27239321, 27239324, 27239332-27239333, 27239362, 27239370-27239372, 27239388-27239590 |
494 | GARS | 7 | 0.99369369369369 | 14 | 2220 | 30673449-30673462 |
495 | RP9 | 7 | 0.9984984984985 | 1 | 666 | 33148935 |
496 | BBS9 | 7 | 0.996996996997 | 8 | 2664 | 33303913, 33303916, 33303923-33303928 |
497 | GLI3 | 7 | 0.99978916297702 | 1 | 4743 | 42005678 |
498 | CCM2 | 7 | 0.97752808988764 | 30 | 1335 | 45039933-45039962 |
499 | GRB10 | 7 | 0.99887955182073 | 2 | 1785 | 50771604-50771605 |
500 | EGFR | 7 | 0.99944949077897 | 2 | 3633 | 55087012-55087013 |
501 | SBDS | 7 | 0.99070385126162 | 7 | 753 | 66456158-66456164 |
502 | NCF1 | 7 | 0.8969696969697 | 85 | 825 | 72639957-72639989, 72640033-72640039, 72643704-72643710, 72644230-72644236, 72648669-72648699 |
503 | ELN | 7 | 0.99264367816092 | 16 | 2175 | 73442540-73442553, 73466286-73466287 |
504 | NCF1 | 7 | 0.93606138107417 | 75 | 1173 | 74188403-74188409, 74193642, 74193668, 74197385-74197391, 74197911-74197917, 74202349-74202379, 74202903-74202923 |
505 | CD36 | 7 | 0.99929527836505 | 1 | 1419 | 80285968 |
506 | HGF | 7 | 0.99954275262917 | 1 | 2187 | 81340803 |
507 | AKAP9 | 7 | 0.99667349027636 | 39 | 11724 | 91609603-91609621, 91609640-91609647, 91714844, 91714911, 91714915-91714923, 91714938 |
508 | PEX1 | 7 | 0.99948078920042 | 2 | 3852 | 92140297, 92157704 |
509 | COL1A2 | 7 | 0.99390392587174 | 25 | 4101 | 94030899, 94049713-94049728, 94049933-94049936, 94049947-94049950 |
510 | SLC25A13 | 7 | 0.99803052683407 | 4 | 2031 | 95751294-95751297 |
511 | TFR2 | 7 | 0.99958437240233 | 1 | 2406 | 100238652 |
512 | SLC26A5 | 7 | 0.99955257270694 | 1 | 2235 | 103017277 |
513 | SLC26A4 | 7 | 0.99829278702518 | 4 | 2343 | 107323657-107323659, 107323668 |
514 | IFRD1 | 7 | 0.99705014749263 | 4 | 1356 | 112102122, 112102134-112102136 |
515 | CFTR | 7 | 0.95138419986496 | 216 | 4443 | 117188713-117188753, 117188760-117188800, 117188838-117188853, 117234984-117235025, 117235030, 117235038-117235112 |
516 | AASS | 7 | 0.99784250269687 | 6 | 2781 | 121769543, 121769546, 121769586-121769589 |
517 | IMPDH1 | 7 | 0.99944444444444 | 1 | 1800 | 128049912 |
518 | FLNC | 7 | 0.99914404499878 | 7 | 8178 | 128498187-128498193 |
519 | ATP6V0A4 | 7 | 0.9889021006738 | 28 | 2523 | 138394378, 138394389, 138394393-138394399, 138394409-138394414, 138394425-138394431, 138394436-138394441 |
520 | BRAF | 7 | 0.99521946979574 | 11 | 2301 | 140453086, 140624404-140624411, 140624415, 140624423 |
521 | PRSS1 | 7 | 0.79301075268817 | 154 | 744 | 142458411-142458440, 142459625-142459629, 142459664-142459682, 142459781-142459817, 142459863-142459878, 142460295, 142460313, 142460332-142460342, 142460366-142460397, 142460719-142460720 |
522 | CNTNAP2 | 7 | 0.9974974974975 | 10 | 3996 | 145813983-145813988, 145813994-145813997 |
523 | KCNH2 | 7 | 0.95229885057471 | 166 | 3480 | 150644694-150644700, 150644704-150644721, 150644727-150644731, 150644754-150644757, 150644780, 150645562, 150648903, 150671852-150671871, 150671880-150671883, 150671887-150671890, 150671906, 150671909, 150671913-150671916, 150671924, 150671927, 150671933-150671936, 150671941-150671945, 150671956-150672002, 150674965-150675001 |
524 | PRKAG2 | 7 | 0.99941520467836 | 1 | 1710 | 151269757 |
525 | SHH | 7 | 0.99568034557235 | 6 | 1389 | 155595596, 155595777-155595781 |
526 | MNX1 | 7 | 0.88474295190713 | 139 | 1206 | 156799288-156799291, 156802659-156802760, 156802779-156802783, 156802797-156802813, 156802844, 156802857, 156802899-156802907 |
527 | GATA4 | 8 | 0.99247554552295 | 10 | 1329 | 11565909-11565910, 11607662-11607664, 11607672-11607676 |
528 | ASAH1 | 8 | 0.99915824915825 | 1 | 1188 | 17915131 |
529 | NEFL | 8 | 0.99877450980392 | 2 | 1632 | 24813415-24813416 |
530 | FGFR1 | 8 | 0.98700771416971 | 32 | 2463 | 38275885-38275888, 38285910-38285937 |
531 | ADAM9 | 8 | 0.99512195121951 | 12 | 2460 | 38959389-38959395, 38959403, 38961216-38961219 |
532 | ANK1 | 8 | 0.99947312961012 | 3 | 5694 | 41550362-41550364 |
533 | THAP1 | 8 | 0.99688473520249 | 2 | 642 | 42693202, 42693242 |
534 | CHD7 | 8 | 0.9996664442962 | 3 | 8994 | 61655092, 61734592, 61749464 |
535 | TMEM67 | 8 | 0.9946452476573 | 16 | 2988 | 94768082-94768085, 94768094, 94777692-94777696, 94777852-94777854, 94777870-94777872 |
536 | GDF6 | 8 | 0.99561403508772 | 6 | 1368 | 97157416-97157421 |
537 | VPS13B | 8 | 0.99666499916625 | 40 | 11994 | 100123392-100123393, 100123423-100123452, 100146872, 100160139-100160140, 100160143, 100514006, 100514011-100514012, 100514029 |
538 | KIAA0196 | 8 | 0.99971264367816 | 1 | 3480 | 126079844 |
539 | KCNQ3 | 8 | 0.98281786941581 | 45 | 2619 | 133492735-133492779 |
540 | TG | 8 | 0.99987961959793 | 1 | 8307 | 133882071 |
541 | CYP11B1 | 8 | 0.96097883597884 | 59 | 1512 | 143958288-143958294, 143958513-143958533, 143958572-143958602 |
542 | CYP11B2 | 8 | 0.95965608465608 | 61 | 1512 | 143993988-143993994, 143994026-143994032, 143994101-143994108, 143994768-143994785, 143996536-143996556 |
543 | PLEC | 8 | 0.99124866595518 | 123 | 14055 | 144990455, 144994388-144994391, 144994394, 144995051-144995057, 144995512-144995517, 144995662, 144996242-144996260, 144996523-144996556, 144997837, 144997842, 144997885-144997891, 144997984-144997993, 144998911-144998937, 145003348, 145003353, 145003403, 145003406 |
544 | GPT | 8 | 0.99329309188464 | 10 | 1491 | 145730819, 145731268, 145732018-145732025 |
545 | RECQL4 | 8 | 0.99421009098428 | 21 | 3627 | 145738734-145738740, 145738749-145738753, 145738768, 145738772-145738773, 145738776-145738781 |
546 | KCNV2 | 9 | 0.98717948717949 | 21 | 1638 | 2718338, 2718757, 2718760-2718767, 2718962, 2718982-2718989, 2718993-2718994 |
547 | GLIS3 | 9 | 0.99677765843179 | 9 | 2793 | 4117853, 4117856-4117858, 4118057-4118061 |
548 | JAK2 | 9 | 0.98323036187114 | 57 | 3399 | 5077468, 5077477-5077498, 5077503-5077530, 5077569, 5077574, 5077577-5077580 |
549 | TMC1 | 9 | 0.98072711344722 | 44 | 2283 | 75403371, 75403374, 75420371-75420412 |
550 | VPS13A | 9 | 0.97994750656168 | 191 | 9525 | 79820314, 79824399-79824401, 79824411-79824413, 79824417, 79840871, 79840874, 79842392, 79843061, 79843093, 79843107-79843112, 79843122-79843126, 79843152-79843180, 79891061, 79896783-79896786, 79896796-79896842, 79908362, 79908386-79908391, 79908400, 79910628, 79929027, 79929035, 79931189-79931190, 79932536-79932539, 79932542-79932547, 79932550, 79932557, 79932594-79932614, 79933447, 79933455-79933457, 79934491-79934500, 79952448, 79954775-79954782, 79996892-79996898, 79996905-79996911, 79996938, 79996965, 79996979 |
551 | PTCH1 | 9 | 0.99976979742173 | 1 | 4344 | 98270643 |
552 | FOXE1 | 9 | 0.96345811051693 | 41 | 1122 | 100616697-100616737 |
553 | TGFBR1 | 9 | 0.96230158730159 | 57 | 1512 | 101867536-101867561, 101867571-101867577, 101900152-101900159, 101910007-101910022 |
554 | ABCA1 | 9 | 0.99985263778367 | 1 | 6786 | 107576468 |
555 | FKTN | 9 | 0.9992784992785 | 1 | 1386 | 108380341 |
556 | DFNB31 | 9 | 0.99082232011747 | 25 | 2724 | 117266936, 117266996-117267019 |
557 | NR5A1 | 9 | 0.9992784992785 | 1 | 1386 | 127245174 |
558 | LMX1B | 9 | 0.98748882931189 | 14 | 1119 | 129376831-129376844 |
559 | STXBP1 | 9 | 0.99889624724062 | 2 | 1812 | 130374683, 130374689 |
560 | ENG | 9 | 0.99898836621143 | 2 | 1977 | 130588028, 130588036 |
561 | TOR1A | 9 | 0.998998998999 | 1 | 999 | 132586199 |
562 | SETX | 9 | 0.99788399302962 | 17 | 8034 | 135139870-135139884, 135139887, 135202224 |
563 | CEL | 9 | 0.84896521356231 | 343 | 2271 | 135944521-135944528, 135944582-135944589, 135945985-135946018, 135946653, 135946658, 135946675-135946702, 135946708-135946969, 135946986 |
564 | SURF1 | 9 | 0.99778516057586 | 2 | 903 | 136223304, 136223307 |
565 | ADAMTS13 | 9 | 0.98179271708683 | 78 | 4284 | 136293768-136293778, 136293790-136293853, 136293879-136293881 |
566 | COL5A1 | 9 | 0.98350552836687 | 91 | 5517 | 137534041-137534074, 137534082-137534137, 137726997 |
567 | LHX3 | 9 | 0.98759305210918 | 15 | 1209 | 139090796-139090797, 139090800-139090805, 139090854, 139090873, 139090893, 139094833-139094835, 139094847 |
568 | INPP5E | 9 | 0.97260981912145 | 53 | 1935 | 139326276-139326280, 139327011-139327037, 139333317-139333321, 139333329-139333340, 139333343-139333346 |
569 | NOTCH1 | 9 | 0.99569640062598 | 33 | 7668 | 139391820, 139440188-139440198, 139440208-139440228 |
570 | AGPAT2 | 9 | 0.97132616487455 | 24 | 837 | 139581738-139581740, 139581744, 139581750, 139581754, 139581763-139581770, 139581776, 139581781-139581788, 139581791 |
571 | SLC34A3 | 9 | 0.98666666666667 | 24 | 1800 | 140128319-140128324, 140128329-140128330, 140128334-140128336, 140128351, 140128593-140128594, 140128604, 140128606, 140128610-140128617 |
572 | GPR143 | X | 0.9921568627451 | 10 | 1275 | 9707664, 9709433-9709434, 9709438, 9709444-9709447, 9733695, 9733747 |
573 | OFD1 | X | 0.99605133267522 | 12 | 3039 | 13780490-13780501 |
574 | SMS | X | 0.96639418710263 | 37 | 1101 | 21958949-21958967, 21958976-21958991, 21985337, 21985340 |
575 | ARX | X | 0.88869153345175 | 188 | 1689 | 25031264-25031292, 25031381-25031385, 25031462-25031463, 25031466, 25031473, 25031529-25031574, 25031643-25031697, 25031712-25031715, 25031718-25031722, 25031768-25031769, 25031772-25031809 |
576 | GK | X | 0.99939831528279 | 1 | 1662 | 30725712 |
577 | DMD | X | 0.9994574064026 | 6 | 11058 | 31645945-31645946, 32383304, 32398750-32398751, 32404443 |
578 | RPGR | X | 0.87684301821336 | 426 | 3459 | 38145317-38145375, 38145383-38145446, 38145453-38145755 |
579 | NYX | X | 0.98340248962656 | 24 | 1446 | 41332929-41332935, 41333091-41333100, 41333156, 41333234, 41333299, 41333321, 41333463, 41333545, 41333927 |
580 | ZNF674 | X | 0.99942726231386 | 1 | 1746 | 46360534 |
581 | RP2 | X | 0.99905033238367 | 1 | 1053 | 46739175 |
582 | CFP | X | 0.99148936170213 | 12 | 1410 | 47485727-47485735, 47488923, 47488981, 47489004 |
583 | ZNF81 | X | 0.99798590130916 | 4 | 1986 | 47747409-47747412 |
584 | WAS | X | 0.98807157057654 | 18 | 1509 | 48547187-48547194, 48547204-48547210, 48547255-48547256, 48547261 |
585 | CACNA1F | X | 0.99983147960903 | 1 | 5934 | 49086935 |
586 | FGD1 | X | 0.997227997228 | 8 | 2886 | 54494249-54494254, 54497144-54497145 |
587 | AR | X | 0.97140788997467 | 79 | 2763 | 66765157-66765205, 66766196, 66766362, 66766365-66766390, 66942766-66942767 |
588 | OPHN1 | X | 0.99958488999585 | 1 | 2409 | 67412825 |
589 | DLG3 | X | 0.99837000814996 | 4 | 2454 | 69665282-69665285 |
590 | MED12 | X | 0.99770431588613 | 15 | 6534 | 70338631-70338633, 70338655, 70338700-70338703, 70349619-70349621, 70360663-70360665, 70361106 |
591 | GJB1 | X | 0.99765258215962 | 2 | 852 | 70444392, 70444396 |
592 | TAF1 | X | 0.97289686730025 | 154 | 5682 | 70586165-70586263, 70586270-70586277, 70586296, 70586299, 70586313-70586344, 70602927-70602939 |
593 | SLC16A2 | X | 0.97774158523344 | 41 | 1842 | 73641368-73641407, 73641466 |
594 | ABCB7 | X | 0.99690539345712 | 7 | 2262 | 74293538-74293543, 74293567 |
595 | ATP7A | X | 0.99955585165445 | 2 | 4503 | 77276522, 77276525 |
596 | BRWD3 | X | 0.99242004067295 | 41 | 5409 | 79952325, 79991557, 79991580-79991587, 80064940-80064970 |
597 | CHM | X | 0.99847094801223 | 3 | 1962 | 85282529, 85282543-85282544 |
598 | PCDH19 | X | 0.99969751966122 | 1 | 3306 | 99663409 |
599 | COL4A5 | X | 0.9992091735864 | 4 | 5058 | 107834419-107834422 |
600 | XIAP | X | 0.99866131191432 | 2 | 1494 | 123025097, 123025106 |
601 | SLC9A6 | X | 0.99762583095916 | 5 | 2106 | 135104755-135104758, 135104842 |
602 | ZIC3 | X | 0.97364672364672 | 37 | 1404 | 136651105, 136651129-136651164 |
603 | SOX3 | X | 0.98956002982849 | 14 | 1341 | 139585949-139585951, 139586149, 139586493, 139586508, 139586511-139586513, 139586692-139586696 |
604 | FMR1 | X | 0.98525539757767 | 28 | 1899 | 147009840-147009867 |
605 | MTM1 | X | 0.98896247240618 | 20 | 1812 | 149807449-149807468 |
606 | SLC6A8 | X | 0.88259958071279 | 224 | 1908 | 152954047-152954249, 152958538-152958546, 152959470-152959472, 152959701, 152960206, 152960547-152960553 |
607 | ABCD1 | X | 0.93699731903485 | 141 | 2238 | 153008473-153008516, 153008675-153008678, 153008705-153008715, 153008785-153008791, 153008944-153008946, 153008981-153008987, 153009014-153009033, 153009111-153009155 |
608 | MECP2 | X | 0.95724782899132 | 64 | 1497 | 153296186-153296187, 153363061-153363122 |
609 | OPN1LW | X | 0.94246575342466 | 63 | 1095 | 153416312-153416318, 153416343-153416365, 153418521-153418544, 153421912, 153421916, 153421966-153421972 |
610 | OPN1MW | X | 0.97260273972603 | 30 | 1095 | 153448204, 153455651-153455668, 153458965, 153458971-153458972, 153458978, 153459096-153459102 |
611 | OPN1MW | X | 0.97534246575342 | 27 | 1095 | 153485322, 153492769-153492786, 153496121, 153496214-153496220 |
612 | F8 | X | 0.99574829931973 | 30 | 7056 | 154157682-154157697, 154158016-154158029 |
Effect rank | Variant | Phase/ Zygosity | Allele freq | Impact | Evaluation | Summary / Info |
---|---|---|---|---|---|---|
3 | CASP10-V410I | homozygous | 0.031 | Dominant protective | Low clinical importance, likely | Reported to have a protective effect on breast cancer. If the lifetime risk of breast cancer is 12%, women with this variant may have a lower risk of 8-9% (30% less than average). |
3 | CASP10-L522I | homozygous | 0.309 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
2.5 | C3-P314L | het unknown | 0.079 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.159 (benign), Testable gene in GeneTests with associated GeneReview |
2.5 | C3-R102G | het unknown | 0.053 | Complex/Other pathogenic | Moderate clinical importance, likely | This variant (also called C3F) is common in Europeans (10.2% allele frequency), and is associated with age-related macular degeneration. In the US, 1.5% of adults over 40 have the disease, but the incidence increases strongly with age (>15% in women over 80). Assuming an average lifetime risk of ~10%, heterozygous individuals have a ~13% risk and homozygous have ~20%. |
2.5 | MUSK-S159G | het unknown | 0.134 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
2.5 | MUSK-V790M | het unknown | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 6 Polyphen 2: 0.984 (probably damaging), Testable gene in GeneTests with associated GeneReview | |
2.5 | TP53-P72R | homozygous | 0.550 | Unknown pathogenic | Low clinical importance, uncertain | This is a common variant was first reported as a polymorphism. It has since had mixed associations with cancer: Storey et al. conclude a 7x *increased* risk of HPV cancer for homozygotes vs hets, but Jones et al. find a 1.98x *decreased* risk for colorectal cancer. This variant may have significant impact on particular cancers, but it is unclear what effect it has on the overall burden of cancer. |
2 | ALAD-K59N | het unknown | 0.060 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests |
2 | APOA5-S19W | het unknown | 0.039 | Unknown pathogenic | Low clinical importance, likely | This variant, also known as APOA5*3, is associated with higher plasma triglyceride concentrations but no significant correlation with coronary artery disease itself has been found. |
2 | NEFL-S472Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
2 | SLCO1B1-N130D | homozygous | 0.663 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
2 | SLCO1B1-V174A | homozygous | 0.097 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
2 | ABCA4-D2177N | het unknown | 0.008 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.004 (benign), Testable gene in GeneTests |
2 | ABCA4-H423R | het unknown | 0.232 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
2 | LIG4-T9I | het unknown | 0.132 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.966 (probably damaging) |
2 | LIG4-A3V | het unknown | 0.023 | Dominant protective | Low clinical importance, uncertain | One report has associated this with a decreased risk of multiple myeloma. |
2 | SEMA4A-R713Q | het unknown | 0.062 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.553 (possibly damaging), 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 | homozygous | 0.285 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1.5 | KCNJ11-V337I | homozygous | 0.761 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1.5 | KCNJ11-K23E | homozygous | 0.711 | Unknown protective | Low clinical importance, likely | This variant is associated with decreased risk of type 2 diabetes. It is unclear whether this variant has additive effects, or acts in a dominant or recessive manner. Assuming diabetes has a lifetime risk of 36%, we estimate a decreased risk of around 1-2% per copy of this variant. |
1.25 | SP110-M523T | homozygous | 0.319 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1.25 | SP110-L425S | het unknown | 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. |
1.25 | SP110-G299R | het unknown | 0.822 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1.25 | SP110-W112R | het unknown | 0.945 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1.25 | RNASEL-D541E | het unknown | 0.470 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
1.25 | RNASEL-R462Q | het unknown | 0.208 | Complex/Other pathogenic | Low clinical importance, uncertain | Associated with increased risk of prostate cancer in individuals who already have a family history of prostate cancer, but studies have been unable to replicate this finding in sporadic (non-familial) prostate cancer cases. |
1.25 | LRP5-W211* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Nonsense mutation, Testable gene in GeneTests with associated GeneReview | |
1.25 | LRP5-A1330V | het unknown | 0.120 | Complex/Other pathogenic | Low clinical importance, uncertain | In a study of a UK population this variant was associated with a small increased risk of osteoporosis and osteoporotic bone fractures, with each copy of the variant presumed to have an additive effect. A study in Chinese young men failed to find an association with peak bone density. |
1 | B3GNT6-L316Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | B3GNT6-L335Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | BDNF-V148M | homozygous | 0.208 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
1 | C14orf104-D768G | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
1 | C14orf104-E62D | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
1 | MS4A14-I56Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | MS4A14-N177Y | homozygous | 0.543 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.981 (probably damaging) |
1 | MS4A14-G584R | homozygous | 0.513 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
1 | MTHFD1-K134R | homozygous | 0.846 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | MTHFD1-R653Q | homozygous | 0.320 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.008 (benign) |
1 | TIRAP-S180L | het unknown | 0.073 | Complex/Other pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
1 | ANKK1-A239T | het unknown | 0.320 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.852 (probably damaging) |
1 | ANKK1-G318R | het unknown | 0.165 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.006 (benign) |
1 | ANKK1-G442R | homozygous | 0.541 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | ANKK1-H490R | het unknown | 0.210 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
1 | ANKK1-E713K | het unknown | 0.347 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
1 | NR_027242-C222Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
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 | 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 | KRT10-H487Y | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
1 | KRT10-G126S | het unknown | 0.109 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
1 | KRT10-I101S | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
1 | 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 | KRT16-R41C | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.928 (probably damaging), Testable gene in GeneTests with associated GeneReview | |
1 | MAPT-P202L | homozygous | 0.108 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests with associated GeneReview |
1 | MAPT-D285N | homozygous | 0.081 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview |
1 | MAPT-V289A | homozygous | 0.081 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | MAPT-R370W | homozygous | 0.116 | Unknown benign | Low clinical importance, uncertain | Probably benign. |
1 | MAPT-S447P | homozygous | 0.055 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | MAPT-GT539AA | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | TGIF1-P83Shift | het unknown | 0.139 | Complex/Other pathogenic | Low clinical importance, uncertain | Severe variants in this gene are associated with holoprosencephaly disorders when combined with loss-of-function variants in SHH. Haploinsufficiency was identified in some families with this condition. It is unclear how likely this variant is to occur in combination with an SHH variant, or what phenotypic effect the variant would have on its own. |
1 | AP1S2-T35A | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
1 | AP1S2-R29P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
1 | PIK3R6-L609Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | ENO3-N71S | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
1 | ENO3-V85A | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
1 | CHRNA5-D398N | het unknown | 0.158 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign) |
1 | CILP-G1166S | het unknown | 0.766 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | CILP-Q979R | homozygous | 0.986 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | CILP-K575E | homozygous | 0.974 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | CILP-I395T | het unknown | 0.491 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
1 | CILP-R95Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | NPRL3-L489Shift | homozygous | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
1 | ZNF598-M637T | homozygous | 0.601 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | ZNF598-A608T | homozygous | 0.117 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | ZNF598-S453Y | homozygous | 0.107 | 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 | SPG7-T503A | het unknown | 0.095 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
1 | SPG7-R688Q | het unknown | 0.072 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.203 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
1 | GSPT1-V100A | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | GSPT1-G92C | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) | |
1 | RNF207-N573S | homozygous | 0.474 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | RNF207-G603A | homozygous | 0.165 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign) |
1 | HABP2-T50M | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
1 | ZNF167-N494Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | ADD1-G460W | het unknown | 0.232 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.995 (probably damaging) |
1 | ADD1-S617C | het unknown | 0.334 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | ADH1B-H48R | homozygous | 0.678 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
1 | AX746903-T82Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | AK298931-E88Q | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | AK298931-W38* | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
1 | AK298931-T4S | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | TTN-R30856H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
1 | TTN-I23649T | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
1 | TTN-A19840P | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
1 | TTN-R9852H | het unknown | 0.198 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | TTN-G9378R | het unknown | 0.395 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | TTN-S3419N | homozygous | 0.850 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | TTN-V3261M | homozygous | 0.840 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | TTN-S1295L | homozygous | 0.881 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | TTN-K1201E | homozygous | 0.519 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | HNMT-T105I | het unknown | 0.112 | Complex/Other pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.821 (possibly damaging) |
1 | HRNR-Q2781H | homozygous | 0.395 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | HRNR-C1414Y | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | HRNR-S799T | homozygous | 0.569 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | HRNR-F669S | het unknown | 0.081 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | HRNR-D668C | het unknown | 0.057 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | HRNR-R664Q | het unknown | 0.568 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | HRNR-G492E | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | HRNR-G492R | het unknown | 0.588 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | HRNR-H491Y | het unknown | 0.053 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | HRNR-G490S | het unknown | 0.050 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
1 | HRNR-E473G | homozygous | 0.951 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | HRNR-G427D | het unknown | 0.357 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | HRNR-Q376R | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | HRNR-H273Q | het unknown | 0.383 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | HRNR-R85H | homozygous | 0.553 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.078 (benign) |
1 | HRNR-M1Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | PADI6-V343Shift | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
1 | F5-Q534R | homozygous | 0.991 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | MYOC-R76K | homozygous | 0.094 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests |
1 | CYP1B1-N453S | het unknown | 0.094 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.837 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
1 | CYP1B1-V432L | homozygous | 0.547 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | CHIT1-G102S | het unknown | 0.268 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.057 (benign), Testable gene in GeneTests |
1 | PCSK1-S690T | homozygous | 0.218 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.061 (benign), Testable gene in GeneTests |
1 | PCSK1-Q665E | homozygous | 0.238 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
1 | IL13-Q144R | homozygous | 0.766 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
1 | PLEKHA2-P389Shift | homozygous | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
1 | TOR1A-D216H | het unknown | 0.089 | Unknown protective | Low clinical importance, likely | This SNP has been shown to be benign and play a protective role against Dystonia. |
1 | INSR-A2G | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
1 | CYP2C9-I359L | het unknown | 0.016 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.048 (benign) |
1 | CUBN-T3422I | homozygous | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
1 | CUBN-S2717W | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
1 | CUBN-C2162Y | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
1 | CUBN-S1935G | het unknown | 0.127 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
1 | CUBN-P1559S | homozygous | 0.565 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
1 | CUBN-P389T | homozygous | 0.513 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
1 | CUBN-F253S | het unknown | 0.801 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
1 | ATG9B-A765Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | KCP-H313Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | KCP-A16Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | CUL7-Q813R | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
1 | 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 | EYS-R2326Q | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
1 | EYS-L852P | het unknown | 0.655 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
1 | EYS-T120M | het unknown | 0.165 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
1 | AIM1-Q293P | het unknown | 0.181 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | AIM1-C491R | het unknown | 0.181 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.091 (benign) |
1 | AIM1-E1196A | homozygous | 0.935 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.015 (benign) |
1 | AIM1-C1395Y | het unknown | 0.243 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.958 (probably damaging) |
1 | ABCB1-S893A | het unknown | 0.625 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
1 | ABCB1-N21D | het unknown | 0.044 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
1 | FAM20C-I320Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | FAM20C-R558W | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | FAM20C-N564D | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | POMT1-D411E | homozygous | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
1 | NR_027052-R29H | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | NR_027052-T53Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | NR_027052-Y63N | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
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 | ZNF761-G528S | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | ZNF761-E603Q | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | SCARF2-DV772EL | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | SCARF2-E764Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | SCARF2-P747Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | SCARF2-A745Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | SCARF2-P174S | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | C19orf55-G398Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | HSH2D-S223Shift | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
1 | VSIG10L-Q860Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | VSIG10L-R592Q | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | VSIG10L-M356I | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | VSIG10L-N3T | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | DGKK-L1014Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | KCNC3-D63G | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
1 | DLL3-L142Q | homozygous | 0.020 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.707 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
1 | COL18A1-PGP1362Del | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
1 | TCEAL6-Q175Shift | homozygous | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
1 | NUDT19-R142Q | homozygous | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
1 | KRTAP7-1-Y17Shift | homozygous | Unknown | 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 | |
0.875 | NPC1-S1123C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.875 | NPC1-W1122Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
0.875 | NPC1-I858V | het unknown | 0.480 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.061 (benign), Testable gene in GeneTests with associated GeneReview |
0.875 | NPC1-M642I | homozygous | 0.863 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.875 | NPC1-H215R | het unknown | 0.222 | Complex/Other protective | Low clinical importance, likely | This variant is associated with a reduced risk of obesity, with an additive effect of -0.084 BMI per allele (an average of 0.54 pounds less, per allele, in a 5'6" individual). |
0.625 | SYNE1-F7302V | homozygous | 0.991 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.625 | SYNE1-L5015M | het unknown | 0.866 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.625 | SYNE1-S4596T | het unknown | 0.800 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.625 | SYNE1-K4121R | het unknown | 0.835 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.625 | 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 |
0.625 | SYNE1-H2558Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
0.625 | BRCA2-N372H | het unknown | 0.230 | Recessive pathogenic | Low clinical importance, uncertain | This is a common variant of BRCA2 (HapMap allele frequency of 23%). The variant is weakly associated with an increased chance of breast cancer, and zygosity of the variant is associated with sex of children: male children are more likely to be homozygous for this variant, female children are more likely to be heterozygous. |
0.625 | BRCA2-V2466A | homozygous | 0.954 | Dominant benign | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | PEX2-C184R | homozygous | 0.990 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | SLC30A8-R325W | het unknown | 0.225 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
0.5 | SLC18A1-L392V | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
0.5 | SLC18A1-I136T | het unknown | 0.788 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | PCM1-M597V | homozygous | 0.733 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
0.5 | PCM1-R1251H | het unknown | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.986 (probably damaging) |
0.5 | MCPH1-R171S | homozygous | 0.865 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | MCPH1-D314H | homozygous | 0.648 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | MCPH1-D392G | homozygous | 0.979 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | MCPH1-A761V | homozygous | 0.504 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | MCPH1-P828S | het unknown | 0.241 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ALK-I1461V | homozygous | 0.982 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | COL6A2-A68V | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | GGH-A31T | het unknown | 0.198 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | GGH-C6R | het unknown | 0.088 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | NR_027251-H75Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.5 | CNGB3-T298P | het unknown | 0.681 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | CNGB3-C234W | homozygous | 0.939 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | SLCO5A1-R375Q | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
0.5 | SLCO5A1-L33F | het unknown | 0.512 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | COL6A2-S399N | homozygous | 0.727 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | COL6A2-R680H | het unknown | 0.389 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | THADA-C1605Y | het unknown | 0.137 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.387 (possibly damaging) |
0.5 | THADA-T1385S | het unknown | 0.180 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | THADA-T1187A | het unknown | 0.149 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.384 (possibly damaging) |
0.5 | CCM2-V53I | het unknown | 0.053 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | CCM2-V120I | het unknown | 0.091 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | EGFR-R521K | het unknown | 0.259 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | ELN-G422S | homozygous | 0.225 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | RANBP2-S255N | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | RANBP2-I2803V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | NR_024390-W43* | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
0.5 | NR_024390-A104P | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | GLI2-A1156S | homozygous | 0.536 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | GLI2-D1306N | homozygous | 0.595 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | NPHP1-P39T | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.052 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | EPDR1-A36Shift | het unknown | 0.012 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
0.5 | COL1A2-P549A | homozygous | 0.907 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ALMS1-S524SP | homozygous | 0.578 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ALMS1-V671G | homozygous | 0.857 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ALMS1-N1786D | het unknown | 0.008 | 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: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | TRMT12-W28R | het unknown | 0.615 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | TRMT12-D195Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
0.5 | TRMT12-D195E | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.015 (benign) |
0.5 | LRGUK-R433C | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
0.5 | CLCN1-G118W | homozygous | 0.995 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CLCN1-P727L | het unknown | 0.325 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | RELN-V2092M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | RELN-V1762I | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.813 (possibly damaging), Testable gene in GeneTests |
0.5 | MBLAC1-S43C | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.902 (probably damaging) |
0.5 | BAIAP2L1-E216K | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.906 (probably damaging) |
0.5 | CYP3A7-R409T | homozygous | 0.669 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | CYP3A43-Y25Shift | het unknown | 0.148 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift |
0.5 | CYP3A43-P340A | het unknown | 0.215 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.925 (probably damaging) |
0.5 | PLEC-GS4647VT | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | PLEC-T4044M | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | PLEC-R2969H | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | PLEC-S2791P | het unknown | 0.272 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | PLEC-A2194V | het unknown | 0.210 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | PLEC-H1459R | het unknown | 0.512 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | PLEC-R1386Q | het unknown | 0.276 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | PLEC-V991L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | PLEC-A641V | het unknown | 0.210 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | C2orf71-S1225SS | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | C2orf71-L792V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
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 | RBP3-R346H | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) | |
0.5 | EPHX1-Y113H | het unknown | 0.290 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.997 (probably damaging) |
0.5 | EPHX1-H139R | het unknown | 0.210 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
0.5 | MTR-R52Q | het unknown | 0.002 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | MTR-G90E | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | MTR-G90E | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | RYR2-Q2958R | homozygous | 0.133 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | TPO-A373S | het unknown | 0.188 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
0.5 | TPO-S398T | homozygous | 0.684 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.988 (probably damaging), Testable gene in GeneTests |
0.5 | TPO-V847A | het unknown | 0.674 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
0.5 | COL5A1-G530S | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | COL5A1-N951S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | AK094914-K152N | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | AK094914-T33Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.5 | AK094914-C16Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.5 | AK094914-A13Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.5 | CHAT-D400N | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.202 (possibly damaging), Testable gene in GeneTests with associated GeneReview | |
0.5 | CHAT-V461M | homozygous | 0.927 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | PCDH15-R934Q | het unknown | 0.283 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | PCDH15-N642S | het unknown | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | PCDH15-S19A | het unknown | 0.174 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | GPATCH2-M474V | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
0.5 | COL17A1-M703V | het unknown | 0.672 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | COL17A1-G428S | homozygous | 0.771 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | COL17A1-T210M | het unknown | 0.557 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | USH2A-M3868V | het unknown | 0.131 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | USH2A-E3411A | het unknown | 0.638 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | USH2A-I2106T | het unknown | 0.629 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | USH2A-R1486K | homozygous | 0.646 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | ZFYVE27-V82I | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | ZFYVE27-G138V | homozygous | 0.720 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | DRD3-G9S | homozygous | 0.482 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
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-T1996S | het unknown | 0.248 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CDH23-E2041K | het unknown | 0.344 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CDH23-R2355Q | het unknown | 0.349 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CDH23-P2377L | het unknown | 0.338 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CDH23-F3122L | het unknown | 0.055 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ANXA11-L337Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | ANXA11-R191Q | het unknown | 0.030 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
0.5 | RGR-S245F | het unknown | 0.044 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | ADAMTS13-R7W | het unknown | 0.062 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | ADAMTS13-Q448E | het unknown | 0.211 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | ADAMTS13-P618A | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests |
0.5 | REXO4-T283A | het unknown | 0.035 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.957 (probably damaging) |
0.5 | REXO4-R141K | het unknown | 0.097 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | GCKR-L446P | het unknown | 0.673 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
0.5 | ROR2-V819I | homozygous | 0.798 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ROR2-T245A | homozygous | 0.619 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | IPPK-L376F | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.865 (probably damaging) |
0.5 | TAF1L-M371V | het unknown | 0.038 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging) |
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-D63N | het unknown | 0.079 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests |
0.5 | DOCK8-P97T | het unknown | 0.512 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests |
0.5 | DOCK8-A597V | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.96 (probably damaging), Testable gene in GeneTests |
0.5 | SCRIB-H1217P | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.949 (probably damaging) |
0.5 | SCRIB-L984V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | SCRIB-V674E | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
0.5 | SCRIB-A551T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | SCRIB-P422L | het unknown | 0.516 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.998 (probably damaging) |
0.5 | GARS-P42A | homozygous | 0.654 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | 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 | FKTN-R203Q | homozygous | 0.177 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.166 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | APOB-S4338N | homozygous | 0.725 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | APOB-E4181K | het unknown | 0.121 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | APOB-I2313V | het unknown | 0.964 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | APOB-Y1422C | homozygous | 0.994 | Unknown benign | Low clinical importance, uncertain | This position is almost certainly an error in the HG18 reference sequence. |
0.5 | APOB-T98I | het unknown | 0.149 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | SETX-I1386V | homozygous | 0.494 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | SETX-G1252R | homozygous | 0.494 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | SETX-D1192E | homozygous | 0.598 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | TTF1-A885V | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | MATN3-R391C | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.159 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | CBR3-V244M | homozygous | 0.398 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.014 (benign) |
0.5 | TTC3-M840T | het unknown | 0.646 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | TTC3-R924H | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
0.5 | TTC3-D1751H | het unknown | 0.791 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | DFNB31-V783A | het unknown | 0.405 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DFNB31-H752Q | homozygous | 0.983 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DFNB31-M613T | het unknown | 0.487 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DFNB31-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: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CDK5RAP2-E289Q | het unknown | 0.801 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ZBTB26-S158Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
0.5 | CLDN20-G94E | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
0.5 | DNAH11-E34L | het unknown | 0.335 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DNAH11-V1023A | het unknown | 0.193 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DNAH11-T1038A | homozygous | 0.747 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DNAH11-A3474T | het unknown | 0.501 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DNAH11-V3715L | het unknown | 0.452 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DNAH11-M4172V | 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 | homozygous | 0.359 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CFI-T300A | homozygous | 0.957 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | SYNPO2-R147Del | homozygous | 0.273 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | SYNPO2-G154A | het unknown | 0.236 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.135 (benign) |
0.5 | SYNPO2-T573A | homozygous | 0.829 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | SYNPO2-R1009W | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.986 (probably damaging) |
0.5 | DNAJB7-E41A | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.957 (probably damaging) |
0.5 | XPC-Q939K | homozygous | 0.683 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | 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 | AGPAT9-R386K | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
0.5 | ABCG2-Q141K | het unknown | 0.131 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.548 (possibly damaging) |
0.5 | TET2-P29R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) | |
0.5 | TET2-L1721W | het unknown | 0.070 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.032 (benign) |
0.5 | FAT1-S4542Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.5 | FAT1-S4542Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.5 | FAT1-K4059N | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | FAT1-S3554A | het unknown | 0.595 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | FAT1-Q2933P | homozygous | 0.695 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | FAT1-I2718V | het unknown | 0.061 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | FAT1-H1273R | homozygous | 0.697 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | FAT1-R1064G | homozygous | 0.752 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | FAT1-V862L | homozygous | 0.671 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | FAT1-F614L | homozygous | 0.685 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | FAT1-V482I | homozygous | 0.297 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | FAT1-S404R | homozygous | 0.354 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | FAM83F-R436G | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.939 (probably damaging) | |
0.5 | GPR98-L1093F | het unknown | 0.835 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | GPR98-V1951I | het unknown | 0.820 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | GPR98-P1987L | het unknown | 0.333 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.366 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | GPR98-Y2232C | het unknown | 0.349 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.989 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | GPR98-N2345S | het unknown | 0.304 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | GPR98-N2584S | het unknown | 0.825 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | GPR98-A3217V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 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 | COL6A3-T3069I | homozygous | 0.364 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | COL6A3-A3012P | homozygous | 0.843 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | COL6A3-M2927T | homozygous | 0.674 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DMXL1-M1589V | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.984 (probably damaging) |
0.5 | AP3B1-V585E | homozygous | 0.806 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | CCNO-I219Shift | het unknown | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
0.5 | DNAH5-I4450V | homozygous | 0.481 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DNAH5-A4134V | homozygous | 0.450 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DNAH5-L2862F | het unknown | 0.212 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | DNAH5-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 | het unknown | 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 | TMEM43-K168N | homozygous | 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 | FANCD2-G901V | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | FAM175A-D373N | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.899 (probably damaging) |
0.5 | FAM175A-A348T | het unknown | 0.375 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.16 (benign) |
0.5 | UGT2B15-Y85D | homozygous | 0.500 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | IDUA-H33Q | homozygous | 0.750 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | IDUA-R105Q | het unknown | 0.147 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.023 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | IDUA-A361T | het unknown | 0.204 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | IDUA-V454I | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview | |
0.5 | GBE1-I334V | homozygous | 0.979 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | HTT-Y2309H | het unknown | 0.459 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | HTT-V2786I | het unknown | 0.193 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CPN2-V536M | het unknown | 0.262 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.935 (probably damaging), Testable gene in GeneTests |
0.5 | CPN2-Q509R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | CPN2-Q509R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | CPN2-A305T | het unknown | 0.359 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.005 (benign), Testable gene in GeneTests |
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 | CASR-A986S | het unknown | 0.070 | Unknown benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
0.5 | CASR-R990G | het unknown | 0.199 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.939 (probably damaging), Testable gene in GeneTests |
0.5 | CASR-E1011Q | homozygous | 0.916 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | CEP63-Q185H | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
0.5 | CEP63-S651L | het unknown | 0.329 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.027 (benign) |
0.5 | NDUFB5-T34P | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
0.5 | ATXN7-V862M | homozygous | 0.485 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | EVC-Y258H | homozygous | 0.721 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests |
0.5 | EVC-T449K | homozygous | 0.871 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | EVC-R576Q | homozygous | 0.274 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests |
0.5 | KAL1-V534I | homozygous | 0.543 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | SLC30A9-M50V | homozygous | 0.555 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
0.5 | SLC30A9-P52S | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
0.5 | SLC30A9-T97A | homozygous | 0.987 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | CCBP2-V41A | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.97 (probably damaging) |
0.5 | N4BP2-S101I | het unknown | 0.109 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.127 (benign) |
0.5 | N4BP2-D611N | homozygous | 0.817 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | N4BP2-E861V | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
0.5 | TLR6-S249P | homozygous | 0.855 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | WFS1-V333I | homozygous | 0.889 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | WFS1-R456H | het unknown | 0.065 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | WFS1-R611H | het unknown | 0.442 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | ABHD14A-R32Q | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.99 (probably damaging) |
0.5 | TLR1-S602I | homozygous | 0.727 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | TLR1-N248S | homozygous | 0.643 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
0.5 | ALDH7A1-K439Q | het unknown | 0.072 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | 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 | FBN2-A68V | het unknown | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | PKHD1-Q4048R | homozygous | 0.566 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | PKHD1-Q3899R | homozygous | 0.546 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | PKHD1-L1870V | homozygous | 0.905 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | EFHC1-I619L | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests |
0.5 | DFNB59-R265C | het unknown | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.962 (probably damaging), Testable gene in GeneTests |
0.5 | ENPP5-I171V | het unknown | 0.384 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.139 (benign) |
0.5 | ENPP5-R39P | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
0.5 | ENPP5-L6I | het unknown | 0.384 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
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 | TULP1-K261N | het unknown | 0.805 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | TULP1-I259T | het unknown | 0.344 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | TULP1-T67R | homozygous | 0.877 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | BC112980-K147Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.5 | DNAH7-L3319P | homozygous | 0.914 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | DNAH7-I1020T | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | DNAH7-R545C | het unknown | 0.498 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.02 (benign) |
0.5 | DNAH7-M380R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
0.5 | ABCB11-V444A | homozygous | 0.606 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | MYO6-T845I | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | SLC22A2-S270A | homozygous | 0.876 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | PRODH-R521Q | homozygous | 0.887 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | PRODH-W185R | homozygous | 0.826 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | PRODH-P30S | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | PRODH-P19Q | het unknown | 0.562 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | PMS2-K541E | homozygous | 0.904 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | PMS2-D70G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | WDR11-E988K | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.97 (probably damaging) |
0.5 | HIVEP2-L1538P | homozygous | 0.972 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | HIVEP2-Y1242C | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) |
0.5 | 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: 3 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 | SCN9A-W1150R | het unknown | 0.896 | Dominant benign | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | SCN9A-R1110Q | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
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 | ALS2-V368M | homozygous | 0.869 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | NOTCH4-G835V | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
0.5 | COL4A3-G43R | het unknown | 0.239 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | COL4A3-L141P | homozygous | 0.760 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | COL4A3-E162G | homozygous | 0.764 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | COL4A3-D326Y | het unknown | 0.203 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | COL4A3-R408H | het unknown | 0.064 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | COL4A3-H451R | het unknown | 0.090 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | COL4A3-S1147F | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | KIF4B-R580L | het unknown | 0.685 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | KIF4B-R680H | het unknown | 0.176 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.999 (probably damaging) |
0.5 | KIF4B-V755I | het unknown | 0.094 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.877 (probably damaging) |
0.5 | KIF4B-I834Shift | het unknown | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
0.5 | KIF4B-K851E | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | KIF4B-R1029H | het unknown | 0.119 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.043 (benign) |
0.5 | NIPAL4-S453L | het unknown | 0.094 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | SLC26A2-I574T | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ADRB2-E27Q | het unknown | 0.773 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
0.5 | ISX-S28G | homozygous | 0.810 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | ISX-P57S | het unknown | 0.791 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.004 (benign) |
0.5 | ISX-R83Q | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
0.5 | ISX-T182M | het unknown | 0.094 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
0.5 | DMD-R2937Q | homozygous | 0.899 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DMD-Q2574H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | DMD-R1745H | het unknown | 0.387 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | DMD-D882G | het unknown | 0.727 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DMD-T630A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | DMD-I585S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | AX746964-G175Shift | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
0.5 | SOX30-C55R | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.996 (probably damaging) |
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 | 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-R723K | homozygous | 0.770 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ABCA12-S777T | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | TNXB-G3212V | het unknown | 0.035 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | TNXB-R1414Q | het unknown | 0.050 | 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 | 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-G109S | het unknown | 0.208 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | HLA-H-R141Q | het unknown | 0.188 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | HLA-H-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-P226L | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 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 | 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 | NEFH-P562A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | NEFH-P615L | het unknown | 0.167 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 1.0 (probably damaging) |
0.5 | NEFH-A672E | het unknown | 0.013 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.889 (probably damaging) |
0.5 | NEFH-E805A | het unknown | 0.110 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | BTN2A2-A4V | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | BTN2A2-P39A | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
0.5 | BTN2A2-S432T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | BTN2A2-K513T | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
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 | PTPN22-W620R | het unknown | 0.970 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
0.5 | CD19-L174V | homozygous | 0.876 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CD2BP2-T88S | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
0.5 | SALL1-V1275I | homozygous | 0.983 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | SH2B1-T484A | het unknown | 0.217 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
0.5 | LRP8-R952Q | het unknown | 0.130 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
0.5 | LRP8-D46E | homozygous | 0.621 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | DKC1-K505Del | het unknown | 0.011 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | LEPR-K656N | het unknown | 0.098 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.454 (possibly damaging), Testable gene in GeneTests |
0.5 | ABCC6-M848V | homozygous | 0.954 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ABCC6-R265G | het unknown | 0.073 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | RBL2-Y210C | het unknown | 0.085 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.125 (benign) |
0.5 | RBL2-E575Q | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
0.5 | RPGRIP1L-R744Q | het unknown | 0.071 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | LRRC50-D387E | het unknown | 0.070 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.951 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | CYBA-V174A | het unknown | 0.417 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | CYBA-Y72H | het unknown | 0.649 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | ANKRD11-P2263S | het unknown | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.979 (probably damaging) |
0.5 | ANKRD11-A2023P | het unknown | 0.036 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | ANKRD11-S1161* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
0.5 | ANKRD11-A971V | het unknown | 0.551 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | TOE1-V36I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | TOE1-R341H | het unknown | 0.013 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
0.5 | GCSH-S21L | homozygous | 0.750 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CPT2-V368I | het unknown | 0.477 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CPT2-M647V | het unknown | 0.093 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | NQO1-P187S | het unknown | 0.283 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.215 (possibly damaging) |
0.5 | SPATA6-E228K | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging) |
0.5 | DPYD-I543V | het unknown | 0.199 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | VASN-R161Q | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.862 (probably damaging) |
0.5 | VASN-E384A | het unknown | 0.687 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.172 (benign) |
0.5 | ARMS2-A69S | het unknown | 0.294 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 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 | NR2E3-T318Shift | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift, Testable gene in GeneTests |
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 | MGA-T716S | homozygous | 0.780 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | MGA-C1270R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
0.5 | CHIA-N45D | het unknown | 0.150 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | CHIA-D47N | het unknown | 0.150 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.008 (benign) |
0.5 | CHIA-R61M | het unknown | 0.155 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | CHIA-I339V | het unknown | 0.664 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | CHIA-F354S | het unknown | 0.408 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 1.0 (probably damaging) |
0.5 | CHIA-F377L | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.956 (probably damaging) |
0.5 | CHIA-V432G | het unknown | 0.635 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | NM_001080841-R42C | het unknown | 0.328 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | NM_001080841-R85C | het unknown | 0.209 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | NM_001080841-R102* | het unknown | 0.026 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
0.5 | ACPT-P95L | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.994 (probably damaging) |
0.5 | KIAA1324-H55Y | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
0.5 | KIAA1324-I86V | homozygous | 0.988 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | KIAA1324-T623P | het unknown | 0.686 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | KIAA1324-L1009P | homozygous | 0.878 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | HEXA-I436V | homozygous | 0.748 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | HEXA-N196S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | BCAM-R77H | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests |
0.5 | BCAM-V196I | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | BCAM-T539A | het unknown | 0.261 | Unknown benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
0.5 | EME2-Q387* | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
0.5 | ZNF224-M118V | homozygous | 0.793 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | ZNF224-H162L | homozygous | 0.780 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.262 (possibly damaging) |
0.5 | ZNF224-K640E | homozygous | 0.593 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | DBT-S384G | homozygous | 0.869 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | FANCI-A86V | het unknown | 0.219 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | FANCI-C742S | het unknown | 0.234 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | FANCI-I877L | het unknown | 0.086 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | LOXL1-G153D | het unknown | 0.269 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.135 (benign) |
0.5 | DHDH-S66N | het unknown | 0.545 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | DHDH-A173Shift | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
0.5 | DHDH-V247A | homozygous | 0.473 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | DHDH-E294Shift | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
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 | AGBL1-R112C | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.928 (probably damaging) |
0.5 | AGBL1-S435P | het unknown | 0.116 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.354 (possibly damaging) |
0.5 | AGBL1-Q1010R | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | PRX-G1132R | homozygous | 0.978 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | PRX-P850A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | PRX-A244V | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.036 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | TMEM54-L110F | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.926 (probably damaging) |
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 | MTHFR-E429A | het unknown | 0.243 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.099 (benign), Testable gene in GeneTests |
0.5 | ATP8B1-A1152T | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | AATK-F1266S | het unknown | 0.404 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.981 (probably damaging) |
0.5 | AATK-G703C | het unknown | 0.307 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.044 (benign) |
0.5 | AATK-G486Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.5 | AATK-G484Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.5 | GAA-H199R | homozygous | 0.574 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | GAA-R223H | homozygous | 0.606 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | GAA-V780I | homozygous | 0.720 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CROCC-R7G | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | CROCC-A439V | het unknown | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
0.5 | CROCC-P493L | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
0.5 | CROCC-P511S | het unknown | 0.904 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.94 (probably damaging) |
0.5 | CROCC-V1110M | het unknown | 0.066 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.18 (benign) |
0.5 | CROCC-R1124Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | CROCC-T1361A | het unknown | 0.096 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | CROCC-G1471R | het unknown | 0.062 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | CROCC-S1744G | het unknown | 0.199 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | CLCNKA-R83G | homozygous | 0.653 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | CLCNKA-Y315F | het unknown | 0.222 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | CLCNKA-A447T | homozygous | 0.688 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | CLCNKA-T454A | het unknown | 0.070 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | CLCNKA-V457I | het unknown | 0.070 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | CLCNKA-R534W | het unknown | 0.018 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | RNF157-G208R | het unknown | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.859 (probably damaging) |
0.5 | CD226-S307G | het unknown | 0.423 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
0.5 | CTDP1-S61A | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | ADAMTS10-H1101Q | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ADAMTS10-T134S | homozygous | 0.910 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | TYK2-V362F | homozygous | 0.268 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
0.5 | QTRT1-S129F | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.983 (probably damaging) |
0.5 | MASP2-D371Y | homozygous | 0.512 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | MASP2-D120G | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | RNASEH2A-L202S | het unknown | 0.059 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DOT1L-G1386S | het unknown | 0.384 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | DOT1L-V1418L | het unknown | 0.266 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | DOT1L-G1443C | het unknown | 0.013 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.988 (probably damaging) |
0.5 | VMAC-R109H | het unknown | 0.018 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.99 (probably damaging) |
0.5 | NOTCH3-A2223V | homozygous | 0.553 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | 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 | DNAI2-A558T | homozygous | 0.674 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | LSR-R519RR | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | LSR-E645Q | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.877 (probably damaging) |
0.5 | CCDC55-K86T | het unknown | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.932 (probably damaging) |
0.5 | GPR179-K1150E | het unknown | 0.283 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | GPR179-R884W | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
0.5 | HSPG2-G2950R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | HSPG2-I2038M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | HSPG2-A1503V | homozygous | 0.777 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | HSPG2-N765S | homozygous | 0.896 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | HSPG2-M638V | homozygous | 0.978 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | DNAH2-T3600I | homozygous | 0.622 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | DNAH2-P4325R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
0.5 | NLRP1-M1184V | homozygous | 0.433 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | NLRP1-V1059M | homozygous | 0.165 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.006 (benign) |
0.5 | NLRP1-L155H | homozygous | 0.120 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.064 (benign) |
0.5 | SYTL1-G365D | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
0.5 | SYTL1-Q444R | homozygous | 0.440 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | SEPN1-C108Y | het unknown | 0.789 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | SEPN1-N467K | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | CDA-K27Q | homozygous | 0.190 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | ALDH4A1-P16L | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | CPAMD8-T1315I | het unknown | 0.698 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | CPAMD8-P783H | homozygous | 0.255 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | CPAMD8-H593R | het unknown | 0.639 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | CPAMD8-D586E | het unknown | 0.380 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | CPAMD8-V369M | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | CPAMD8-V355I | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | CPAMD8-R341Q | het unknown | 0.335 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.814 (possibly damaging) |
0.5 | CPAMD8-R341W | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
0.5 | CPAMD8-M312T | homozygous | 0.733 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | ATP13A2-V467Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests | |
0.5 | SCN4A-S906T | het unknown | 0.008 | 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: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ABCC3-R1297H | het unknown | 0.030 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
0.5 | COL1A1-T1075A | homozygous | 0.961 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | JUP-M697L | homozygous | 0.520 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | BRCA1-S1634G | het unknown | 0.292 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | BRCA1-K1183R | het unknown | 0.302 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | BRCA1-E1038G | het unknown | 0.265 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | BRCA1-P871L | het unknown | 0.555 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | BRCA1-D693N | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | ADAM11-L93S | het unknown | 0.615 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | ADAM11-R141* | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
0.5 | ADAM11-A226T | het unknown | 0.610 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | ADAM11-P255S | het unknown | 0.619 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | GNGT2-Q17R | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
0.5 | SLC28A2-P22L | homozygous | 0.248 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | SLC28A2-S75R | homozygous | 0.253 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | KRT4-G160GAGGFGAGFGTGGFG | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | DCP1B-N195D | het unknown | 0.021 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.859 (probably damaging) |
0.5 | GALNT8-Y53D | het unknown | 0.422 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | GALNT8-G245E | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) |
0.5 | GALNT8-E267G | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.049 (benign) |
0.5 | GALNT8-V515F | het unknown | 0.362 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.131 (benign) |
0.5 | CLECL1-S52Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
0.5 | WNK1-T665I | het unknown | 0.067 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | WNK1-T1056P | homozygous | 0.838 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | WNK1-C1506S | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | WNK1-M1808I | het unknown | 0.431 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | LAMC2-M1R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | LAMC2-T124M | het unknown | 0.076 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | C20orf54-I303V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | C20orf54-P267L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | DPAGT1-I393V | homozygous | 0.431 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DEFB126-P106Shift | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
0.5 | RAB40A-H45L | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.907 (probably damaging) |
0.5 | SLCO1B3-S112A | homozygous | 0.646 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | SLCO1B3-M233I | homozygous | 0.659 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.131 (benign) |
0.5 | SLCO1B3-G256A | het unknown | 0.102 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.981 (probably damaging) |
0.5 | HTR2C-C23S | het unknown | 0.191 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.004 (benign) |
0.5 | DDR2-M441I | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | KRT74-T503A | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | KRT74-E271D | homozygous | 0.792 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.017 (benign) |
0.5 | KRT74-D225V | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
0.5 | KRT74-L178Q | het unknown | 0.133 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | KRT83-H493Y | het unknown | 0.791 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | KRT83-I279M | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | KRT83-R149C | het unknown | 0.141 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | MLL2-P813L | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests |
0.5 | LRRK2-R50H | homozygous | 0.927 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | LRRK2-M2397T | het unknown | 0.526 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | VDR-M1T | het unknown | 0.687 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests |
0.5 | AMPD1-K287I | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests |
0.5 | PANK2-G126A | homozygous | 0.917 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ATM-N1983S | homozygous | 0.991 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | USH1C-E819D | homozygous | 0.408 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | SLC6A5-G102S | het unknown | 0.420 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | SLC6A5-F124S | het unknown | 0.803 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | SLC6A5-A162G | homozygous | 0.997 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | SLC6A5-K457N | het unknown | 0.065 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.051 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | SLC6A5-D463N | het unknown | 0.177 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.122 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | OGFR-D40G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | OGFR-R250Q | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
0.5 | OGFR-S519L | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.495 (possibly damaging) |
0.5 | OGFR-G658R | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.824 (possibly damaging) |
0.5 | ABCC8-A1369S | homozygous | 0.755 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CR1L-R97C | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.933 (probably damaging) |
0.5 | CR1L-R116G | het unknown | 0.530 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | CR1L-I139V | het unknown | 0.146 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.089 (benign) |
0.5 | CR1L-C207Y | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
0.5 | CR1L-G263V | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | CR1L-I455V | het unknown | 0.653 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | CR1L-L491P | het unknown | 0.333 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.065 (benign) |
0.5 | CUZD1-I285T | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.984 (probably damaging) |
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 | 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 |
0.5 | SBF2-E679K | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | PDHX-V326L | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.576 (possibly damaging), Testable gene in GeneTests |
0.5 | ALX4-P102S | homozygous | 0.217 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ALX4-R35T | homozygous | 0.393 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | SPTBN2-R1880H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | SPTBN2-L1188E | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | SPTBN2-V1034A | het unknown | 0.204 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.002 (benign), Testable gene in GeneTests |
0.5 | SPTBN2-S825G | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | ASPM-Q2620H | het unknown | 0.025 | 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: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | MYO7A-L16S | het unknown | 0.550 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | MYO7A-S1666C | homozygous | 0.610 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | MAP3K11-R730H | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.91 (probably damaging) |
0.5 | CACNA1S-R1539C | het unknown | 0.073 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | PEX16-V116I | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | WFDC3-R63L | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
0.5 | WFDC3-H36D | homozygous | 0.670 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.207 (possibly damaging) |
0.5 | MEN1-T546A | homozygous | 0.791 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ATP7A-E1350K | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | COL2A1-V1331I | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | COL2A1-T9S | homozygous | 0.598 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | HTR2A-H452Y | het unknown | 0.098 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.489 (possibly damaging) |
0.5 | ZNF528-G443A | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.969 (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 | het unknown | 0.211 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DOCK9-A435V | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | DOCK9-R18W | het unknown | 0.044 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
0.5 | DIAPH3-P588L | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
0.5 | SUCLA2-S199T | homozygous | 0.722 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | OPN1LW-T65I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | OPN1LW-L153M | het unknown | 0.182 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | OPN1LW-I230T | het unknown | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | OPN1LW-A233S | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | OPN1LW-M236V | het unknown | 0.099 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | RDH12-R161Q | het unknown | 0.076 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.941 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | SYNE2-M1969T | homozygous | 0.637 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests |
0.5 | SYNE2-A2284V | homozygous | 0.637 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests |
0.5 | SYNE2-S2359N | homozygous | 0.676 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests |
0.5 | SYNE2-A2395T | homozygous | 0.835 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | SYNE2-S2802G | homozygous | 0.864 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.012 (benign), Testable gene in GeneTests |
0.5 | SYNE2-I2942V | homozygous | 0.622 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | SYNE2-D3253H | homozygous | 0.684 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests |
0.5 | FLG-E2652D | homozygous | 0.304 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.406 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | FLG-E2074Q | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | FLG-R971H | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | FLG-T581S | 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 | ZNF880-V12M | het unknown | 0.132 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | ZNF880-N106Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.5 | ZNF880-N140NN | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | ZNF880-Y150C | het unknown | 0.173 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | ZNF880-R198S | het unknown | 0.354 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | ZNF880-N202H | het unknown | 0.292 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | ZNF880-K471R | het unknown | 0.328 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | TEP1-S1195P | homozygous | 0.703 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | TEP1-R1055C | homozygous | 0.631 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 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: 2 Polyphen 2: Unknown, 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 | ADPRHL1-T163I | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
0.5 | CCDC63-Y303F | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.996 (probably damaging) |
0.5 | ADAMTSL4-A193P | het unknown | 0.625 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | ADAMTSL4-S268F | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.961 (probably damaging) | |
0.5 | PGLYRP3-G126S | het unknown | 0.475 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.997 (probably damaging) |
0.5 | PGLYRP3-R68Q | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
0.5 | SEC22B-L39Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
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 | B3GALTL-E370K | homozygous | 0.612 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | SPATA7-V74M | homozygous | 0.412 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ZBTB7B-P190S | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.932 (probably damaging) |
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 | DDX55-V101L | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.939 (probably damaging) |
0.5 | DDX55-N264S | het unknown | 0.197 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | GALC-T641A | homozygous | 0.892 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | GALC-I562T | het unknown | 0.446 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.167 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | GALC-R184C | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.746 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.375 | COL9A3-R103Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.375 | COL9A3-A435E | het unknown | 0.218 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.568 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.375 | FUT6-R303G | het unknown | 0.107 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.725 (possibly damaging) |
0.375 | FUT6-P124S | homozygous | 0.496 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.614 (possibly damaging) |
0.375 | SACS-V3369A | het unknown | 0.244 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.769 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.375 | SACS-A2510T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.375 | OTOF-V575M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.375 | OTOF-R82C | het unknown | 0.229 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
0.375 | CPS1-G150E | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.375 | CPS1-T344A | het unknown | 0.583 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.375 | CPS1-T1406N | het unknown | 0.263 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.375 | NAT2-I114T | het unknown | 0.220 | Recessive pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
0.375 | NAT2-R268K | het unknown | 0.675 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.25 | NOTCH2-P210L | het unknown | 0.333 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | SCN1A-A1056T | het unknown | 0.806 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | TLR5-D846G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | TLR5-F822L | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | TLR5-I644F | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | TLR5-F616L | het unknown | 0.263 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.011 (benign) |
0.25 | TLR5-N592S | het unknown | 0.211 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
0.25 | TLR5-L487I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | CCDC148-K516Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | CCDC148-K329R | homozygous | 0.969 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | FAM104B-Q80* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
0.25 | FAM104B-D75N | het unknown | 0.171 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | FAM104B-P63R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | FAM104B-AS60ED | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | FAM104B-I54L | het unknown | 0.525 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | DNAH14-T43S | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.25 | DNAH14-F405L | het unknown | 0.030 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.25 | DNAH14-L828V | homozygous | 0.710 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | DNAH14-K1010R | homozygous | 0.617 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | DNAH14-R1011Q | homozygous | 0.674 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | DNAH14-N1099Y | het unknown | 0.677 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | DNAH14-M1110I | homozygous | 0.663 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | DNAH14-K1925Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | DNAH14-N2435S | het unknown | 0.030 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.25 | DNAH14-N3969K | homozygous | 0.346 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | DNAH14-L4096P | homozygous | 0.544 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | DNAH14-F4244C | homozygous | 0.513 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | NEB-I6534V | het unknown | 0.372 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | NEB-A6277P | het unknown | 0.691 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | NEB-R4389T | het unknown | 0.724 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | NEB-S2912P | het unknown | 0.526 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | NEB-K2613N | het unknown | 0.138 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | NEB-H1991Y | het unknown | 0.194 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | NEB-V1491M | het unknown | 0.453 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | NEB-V1479I | het unknown | 0.422 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | NEB-Y1301H | het unknown | 0.668 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | NEB-K1027N | het unknown | 0.476 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | SULT1C4-D5E | het unknown | 0.371 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.25 | CCDC66-D5Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | CCDC66-Q383R | homozygous | 0.934 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | CCDC66-R460Q | het unknown | 0.206 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.999 (probably damaging) |
0.25 | CCDC66-S606SS | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | CCDC66-E835V | het unknown | 0.076 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.063 (benign) |
0.25 | CCDC66-L836S | het unknown | 0.076 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
0.25 | CFH-V62I | het unknown | 0.495 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | CFH-H402Y | het unknown | 0.818 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | MYRIP-M65S | het unknown | 0.109 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | MYRIP-R66Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | SLC16A2-S107P | het unknown | 0.444 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | KCNQ4-H455Q | het unknown | 0.156 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.191 (benign), Testable gene in GeneTests with associated GeneReview |
0.25 | SELP-V640L | het unknown | 0.295 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
0.25 | SELP-D603N | het unknown | 0.780 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | XDH-I1179T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.25 | XDH-G172R | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.004 (benign), Testable gene in GeneTests |
0.25 | KCNE4-G27Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | KCNE4-D145E | het unknown | 0.638 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.25 | LMNA-L15P | het unknown | 0.227 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | LMNA-M174T | het unknown | 0.289 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | COL4A4-P1004L | het unknown | 0.528 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | COL4A4-P482S | het unknown | 0.493 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | C2orf83-W141* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
0.25 | C2orf83-E104Q | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | WDR12-M227Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | WDR12-I75V | het unknown | 0.046 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.25 | LRP2-D4242G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | LRP2-I4210L | homozygous | 0.462 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.993 (probably damaging) |
0.25 | LRP2-K4094E | het unknown | 0.744 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.25 | LRP2-A2872T | het unknown | 0.327 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | LRP2-N83S | het unknown | 0.306 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
0.25 | CFHR1-H157Y | het unknown | 0.169 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | CFHR1-L159V | het unknown | 0.473 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | CFHR1-E175Q | het unknown | 0.518 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | MLH1-I219V | het unknown | 0.124 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
0.25 | MCEE-A76V | het unknown | 0.177 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | F8-D1260E | het unknown | 0.263 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | ATG16L1-T300A | het unknown | 0.347 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
0.25 | ABCG8-Y54C | het unknown | 0.431 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.01 (benign), Testable gene in GeneTests |
0.25 | ABCG8-P74A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.25 | ABCG8-V632A | het unknown | 0.908 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | HMCN1-I2418T | het unknown | 0.553 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests |
0.25 | HMCN1-E2893G | het unknown | 0.617 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.91 (probably damaging), Testable gene in GeneTests |
0.25 | MGAM-N858D | homozygous | 0.978 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | MGAM-K1099Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | DBH-A211T | het unknown | 0.115 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | DBH-A318S | het unknown | 0.104 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
0.25 | 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 | CELA1-L210Shift | het unknown | 0.156 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift |
0.25 | CELA1-M59V | het unknown | 0.142 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.24 (possibly damaging) |
0.25 | CELA1-Y5P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | CELA1-V3Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | VWF-H484R | het unknown | 0.498 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.83 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.25 | VWF-V471I | het unknown | 0.109 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | SNX19-L878R | het unknown | 0.808 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.25 | SNX19-N753S | het unknown | 0.617 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | SNX19-L618F | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | SNX19-R362Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | SNX19-V361L | het unknown | 0.671 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | KRT5-D197E | het unknown | 0.276 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview |
0.25 | MMAB-M239K | het unknown | 0.469 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | PYGL-V222I | het unknown | 0.119 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.336 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.25 | RPGRIP1-K192E | het unknown | 0.446 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | RPGRIP1-A547S | het unknown | 0.164 | Complex/Other benign | Low clinical importance, uncertain | Probably benign. Implicated in causing autosomal recessive cone-rod dystrophy, but a later report found the same incidence in controls and concludes it is not causal. |
0.25 | RPGRIP1-E1033Q | het unknown | 0.256 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | ATP7B-V1140A | het unknown | 0.495 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | ATP7B-R952K | het unknown | 0.481 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | ATP7B-K832R | het unknown | 0.455 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.461 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.25 | ATP7B-V456L | het unknown | 0.360 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
0.25 | ATP7B-S406A | het unknown | 0.355 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
0.25 | ACADS-G209S | het unknown | 0.128 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests |
0.25 | CPB2-I347T | het unknown | 0.814 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | CPB2-A169T | het unknown | 0.345 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | CPB2-I147Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | ROBO3-G192S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.25 | ROBO3-V423M | het unknown | 0.062 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.005 (benign), Testable gene in GeneTests |
0.25 | ROBO3-P868L | het unknown | 0.286 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.074 (benign), Testable gene in GeneTests |
0.25 | CASP5-L347V | het unknown | 0.622 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | CASP5-T119A | homozygous | 0.422 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | CASP5-R23Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | BMPR1A-P2T | het unknown | 0.549 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | ERCC6-Q1413R | het unknown | 0.145 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview |
0.25 | ERCC6-R1213G | het unknown | 0.159 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.25 | ERCC6-M1097V | het unknown | 0.153 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | ANKRD30A-E110* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
0.25 | ANKRD30A-P319A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | ANKRD30A-T590I | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.25 | ANKRD30A-Q621E | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.25 | ANKRD30A-T768A | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | ANKRD30A-E782G | het unknown | 0.035 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.25 | ANKRD30A-D785V | het unknown | 0.033 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.25 | ANKRD30A-N786K | het unknown | 0.033 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.25 | ANKRD30A-F789L | het unknown | 0.033 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.25 | KCNE1-S38G | het unknown | 0.710 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
0.25 | 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 | CALHM1-L86P | het unknown | 1.000 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
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 | THBD-A473V | het unknown | 0.117 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | GTSF1L-A41V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | GTSF1L-N33Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | POLA2-G583R | het unknown | 0.118 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.024 (benign) |
0.25 | USP47-L24Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | USP47-G75V | het unknown | 0.858 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | SLC22A20-E80K | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.046 (benign) | |
0.25 | SLC22A20-M144I | het unknown | 0.368 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.998 (probably damaging) |
0.25 | SLC22A20-W169* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
0.25 | SLC22A20-L236V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | SLC22A20-E300Q | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | SLC22A20-T380I | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | SLC22A20-E453D | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | SLC22A20-V504F | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 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 | ZFYVE26-A2268T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.25 | ZFYVE26-N1891S | homozygous | 0.900 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | RAI1-G90A | het unknown | 0.281 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | RAI1-P165T | het unknown | 0.542 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.25 | NPHS1-E117K | het unknown | 0.297 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests |
0.25 | CHRNB1-E32G | het unknown | 0.172 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.288 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.25 | CTNS-T260I | het unknown | 0.825 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | KRT14-A94T | het unknown | 0.269 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | KRT14-C63Y | het unknown | 0.976 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | UQCRFS1-*275Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | UQCRFS1-P255T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | UQCRFS1-S6A | homozygous | 0.935 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | STXBP2-I526V | het unknown | 0.725 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | DSC3-R102K | het unknown | 0.479 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | DSC3-S78T | het unknown | 0.478 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.314 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.25 | 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 | IL12RB1-G378R | het unknown | 0.329 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
0.25 | IL12RB1-M365T | het unknown | 0.297 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | IL12RB1-R283Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.25 | IL12RB1-Q214R | het unknown | 0.281 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | BRIP1-S919P | het unknown | 0.652 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | FANCA-G809D | het unknown | 0.671 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | FANCA-G501S | het unknown | 0.654 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | FANCA-T266A | het unknown | 0.708 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.25 | PKD1L2-M2313I | homozygous | 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-A1739V | het unknown | 0.141 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | PKD1L2-Y1699C | het unknown | 0.198 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | PKD1L2-M1645V | het unknown | 0.195 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | PKD1L2-D1632G | het unknown | 0.055 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | PKD1L2-Q1616R | het unknown | 0.194 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | PKD1L2-V1505M | het unknown | 0.212 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | PKD1L2-I1331V | homozygous | 0.241 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 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 | het unknown | 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 | het unknown | 0.461 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | PKD1L2-R1040* | het unknown | 0.407 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Nonsense mutation |
0.25 | PKD1L2-L1036P | het unknown | 0.407 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | PKD1L2-Q999H | het unknown | 0.266 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | PKD1L2-R998C | het unknown | 0.262 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 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-G785C | het unknown | 0.193 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | PKD1L2-L711P | het unknown | 0.805 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | PKD1L2-R636H | het unknown | 0.134 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | PKD1L2-P512L | het unknown | 0.751 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | PKD1L2-K416Q | het unknown | 0.788 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | PKD1L2-P301A | het unknown | 0.524 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | PKD1L2-R252W | het unknown | 0.560 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | PKD1L2-N236Shift | het unknown | 0.389 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift |
0.25 | PKD1L2-E221G | het unknown | 0.708 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | PKD1L2-V183I | het unknown | 0.212 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | SLC28A1-L140LV | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | SLC28A1-D521N | het unknown | 0.226 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.25 | MYO9A-S1971L | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | MYO9A-Y1422Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | MYO9A-S1362P | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.25 | MYO9A-G1193E | homozygous | 0.866 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | ATXN3-V212M | het unknown | 0.358 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | PTPN21-R1088* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
0.25 | PTPN21-V936A | homozygous | 0.385 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | PTPN21-L385F | homozygous | 0.341 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | C14orf102-N1118S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | C14orf102-S486Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | SIX5-V693M | het unknown | 0.261 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.086 (benign), Testable gene in GeneTests with associated GeneReview |
0.25 | SIX5-P635S | het unknown | 0.533 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.25 | SIX5-L556V | het unknown | 0.833 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | LITAF-I92V | het unknown | 0.102 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | DHODH-K7Q | het unknown | 0.560 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.004 (benign) |
0.25 | GPR56-S281R | het unknown | 0.750 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | ITPRIPL2-L437Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | ITPRIPL2-P522S | het unknown | 0.064 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.716 (possibly damaging) |
0.25 | CYP2B6-Q172H | het unknown | 0.295 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.009 (benign) |
0.25 | CYP2B6-K262R | het unknown | 0.298 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.25 | MYH11-A1241T | het unknown | 0.223 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | 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 | HPS4-Q620H | het unknown | 0.806 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.25 | HPS4-H601Y | het unknown | 0.807 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | HPS4-V547M | het unknown | 0.780 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | HPS4-E224G | het unknown | 0.779 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | FLT4-H890Q | het unknown | 0.355 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.714 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.25 | 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 | TCOF1-P1139R | het unknown | 0.211 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | C5orf20-R117* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
0.25 | C5orf20-N97D | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | C5orf20-T75P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | SRA1-V110RL | het unknown | 0.360 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | MICA-A47T | het unknown | 0.063 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | MICA-Y59C | het unknown | 0.293 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | MICA-E148K | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.25 | MICA-V152M | het unknown | 0.314 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | MICA-E196K | het unknown | 0.363 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | MICA-S229G | het unknown | 0.320 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | MICA-R233W | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | MICA-I236T | het unknown | 0.570 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | MICA-R274Q | het unknown | 0.538 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.25 | MICA-G318Shift | het unknown | 0.163 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift |
0.25 | HSPA1L-T493M | het unknown | 0.868 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign) |
0.25 | ABO-V276M | homozygous | 0.218 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | ABO-F215I | homozygous | 0.338 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | ABO-W180* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
0.25 | KIF6-W719R | het unknown | 0.538 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.01 (benign) |
0.25 | FANCE-A502T | het unknown | 0.214 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
0.25 | HLA-DQA1-L8M | het unknown | 0.457 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | HLA-DQA1-C34Y | het unknown | 0.547 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | HLA-DQA1-F41S | het unknown | 0.544 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | HLA-DQA1-T130I | het unknown | 0.151 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | HLA-DQA1-Q152H | het unknown | 0.526 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | HLA-DQA1-M230V | het unknown | 0.782 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | COL11A2-E276K | het unknown | 0.320 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.651 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.25 | APC-V1822D | het unknown | 0.887 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | 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-K413R | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
0.25 | TRIOBP-S493N | het unknown | 0.139 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | TRIOBP-T817S | het unknown | 0.080 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.16 (benign), 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 | het unknown | 0.431 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.006 (benign), 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 | SLC2A9-P350L | homozygous | 0.232 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | SLC2A9-R294H | het unknown | 0.296 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests |
0.25 | SLC2A9-G25R | het unknown | 0.358 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
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 | DOK7-R38G | het unknown | 0.208 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | DOK7-R38G | het unknown | 0.208 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | DOK7-G461D | het unknown | 0.128 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.565 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.25 | EIF2B5-I587V | het unknown | 0.370 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
0.25 | ARSE-G424S | het unknown | 0.543 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
0.25 | UCHL1-S18Y | het unknown | 0.111 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.029 (benign) |
0.25 | CNGA1-S3F | het unknown | 0.401 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | CNGA1-E2K | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.25 | GHR-I544L | het unknown | 0.473 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests |
0.25 | MYO10-S1663T | homozygous | 0.822 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | MYO10-R1643* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
0.25 | MYO10-R324W | homozygous | 0.485 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | ARSA-T391S | het unknown | 0.423 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | UGT2B7-Y268H | het unknown | 0.727 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.25 | SHANK3-I245T | het unknown | 0.357 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | PEX6-P939Q | het unknown | 0.339 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | PCNT-G704E | homozygous | 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 | homozygous | 0.847 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, 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-N1841S | het unknown | 0.221 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | PCNT-L2097P | het unknown | 0.262 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
0.25 | PCNT-H2125P | het unknown | 0.310 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | PCNT-M2188R | het unknown | 0.186 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | PCNT-W2239R | het unknown | 0.210 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
0.25 | PCNT-H2247Y | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.25 | PCNT-Q2361R | het unknown | 0.262 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.005 (benign), Testable gene in GeneTests |
0.25 | PCNT-A2549T | het unknown | 0.237 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.009 (benign), 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 | COL6A1-R850H | het unknown | 0.264 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | NOS3-D298E | het unknown | 0.844 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.25 | MAN2B1-L278V | het unknown | 0.236 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | MUT-I671V | het unknown | 0.522 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | CFTR-V470M | het unknown | 0.621 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | SLC19A1-H27R | het unknown | 0.447 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.002 (benign) |
0.25 | RP1-N985Y | het unknown | 0.206 | Unknown benign | Low clinical importance, uncertain | Probably benign. One report linked this variant to high triglycerides, but a later paper found a nearby SNP with similar association and suggests that both findings are caused by linkage to an undiscovered causal variant. |
0.25 | RP1-C2033Y | het unknown | 0.186 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests |
0.25 | SIK1-G643Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | SIK1-A615V | homozygous | 0.854 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.011 (benign) |
0.25 | SIK1-G15S | het unknown | 0.165 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
0.25 | TMC1-E81K | het unknown | 0.308 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | TMC1-R141W | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.25 | FAM201A-G53D | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | FAM201A-Q115* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
0.25 | TMEM67-I604V | het unknown | 0.710 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | TG-S734A | het unknown | 0.698 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | TG-M1028V | het unknown | 0.696 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
0.25 | TG-D1312G | het unknown | 0.344 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | TG-R1999W | homozygous | 0.372 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | TG-W2501R | het unknown | 0.566 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.031 (benign), Testable gene in GeneTests |
0.25 | TG-R2530Q | homozygous | 0.586 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
0.25 | PON1-Q192R | het unknown | 0.572 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
0.25 | PON1-L55M | het unknown | 0.230 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
0.25 | SYNJ2-Y61Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | SYNJ2-E1468G | het unknown | 0.548 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
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 | GLI3-T183A | het unknown | 0.663 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | RSPH4A-R556H | het unknown | 0.203 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.25 | RSPH4A-L589P | het unknown | 0.707 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | SLC22A16-H49R | het unknown | 0.333 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
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 | SOD2-V16A | het unknown | 0.362 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.25 | PRIM2-L39* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
0.25 | PRIM2-E181K | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | PRIM2-D204G | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | PRIM2-S259G | het unknown | 0.002 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.25 | PRIM2-L286P | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | PRIM2-Y287C | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | PRIM2-H289R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | PRIM2-N298Shift | het unknown | 0.389 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift |
0.25 | PRIM2-C302R | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | PRIM2-T323A | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | PRIM2-Q325* | het unknown | 0.492 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Nonsense mutation |
0.25 | PRIM2-D342G | het unknown | 0.468 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | PRIM2-Y345C | het unknown | 0.468 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | PRIM2-R349C | het unknown | 0.468 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | PRIM2-H445Q | het unknown | 0.892 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | PRIM2-S464P | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | TXNDC3-R43K | het unknown | 0.291 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 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: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | TXNDC3-I493T | het unknown | 0.289 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.074 (benign), Testable gene in GeneTests with associated GeneReview |
0.25 | NPSR1-N107I | het unknown | 0.462 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
0.25 | NPSR1-Q344R | het unknown | 0.309 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | LMBRD1-D469E | het unknown | 0.393 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
0 | UNC13D-R928C | het unknown | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview | |
0 | SERPINA1-E288V | het unknown | 0.047 | Recessive pathogenic | Low clinical importance, well-established | This variant represents the PiS variant in alpha-1-antitrypsin deficiency where a homozygous individual has 60% enzymatic activity. This variant alone is unlikely to much effect, but 3-4% of heterozygotes are compound heterozygous with the more severe PiZ variant, which is associated with an increased risk of emphysema and COPD. |
0 | HPS6-A486Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
0 | DCTN1-A318Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
0 | CLEC7A-Y238* | het unknown | 0.043 | Recessive pathogenic | Low clinical importance, uncertain | This variant has been found to impair homan mucosal antifungal defense and was implicated in vulvovaginal candidiasis and mucocutaneous infections in a Dutch family. |
Input file format: CGIVAR
Genome build: b37
Genome coverage: 2,745,351,077 bases (96.9% of callable positions, 90.8% of total positions)
Coding region coverage: 32,819,928 bases (98.8% of all genes, 99.4% of genes with clinical testing available)
Chromosomes: chr1, chr10, chr11, chr12, chr13, chr14, chr15, chr16, chr17, chr18, chr19, chr2, chr20, chr21, chr22, chr3, chr4, chr5, chr6, chr7, chr8, chr9, chrM, chrX