Variant report for huB1FD55
- Data source: CGI sample GS01173-DNA_B07 from PGP sample 61499538
- This report: evidence.pgp-hms.org/genomes?e2ab062d47ab5ee7486fec8f0978340d24a61105
- Person ID: huB1FD55
- public profile: my.pgp-hms.org/profile/huB1FD55
- Download: source data, dbSNP and nsSNP report (129 MB)
- Processing status: processing
- Show debugging info
Log file:
Row number | Variant | Clinical Importance | Evidence | Impact | Allele freq | Summary | Sufficient |
---|---|---|---|---|---|---|---|
1 | PRPH-D141Y | High | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | 0.00365206 | Hypothesized to cause ALS (or increased susceptibility) in a recessive manner, but this is based on a single observation and may lack statistical significance. The mutant protein appears to form abnormal aggregates. | 1 |
2 | RYR2-G1886S | High | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | 0.0613424 | Reported to cause arrhythmogenic right ventricular cardiomyopathy when compound heterozygous with G1885E, although this finding is weakened after correcting for multiple hypotheses and it is unclear what penetrance such a genotype might have, if it is causal. | 1 |
3 | HFE-C282Y | Low | Well-established | Well-established pathogenic Recessive, Carrier (Heterozygous) | 0.0494516 | This variant is associated with hereditary haemochromatosis, 80% of patients with that disease are homozygous for this variant. However, the penetrance is low, in Beutler et al. they note that only 1 of their 158 homozygotes met criteria for diagnosis with the condition. | 1 |
4 | rs5186 | Low | Likely | Likely pathogenic Unknown, Heterozygous | 0.214878 | This common noncoding genetic variant has an allele frequency of ~30% and is associated with an increased risk of hypertension. If ~25% of non-carriers have hypertension, Bonnardeaux et al's data predict ~4% increased risk of hypertension per copy of this variant. This SNP is in the 3' noncoding region of the AGTR1 transcript (angiotensin II type 1 receptor), also known as AT2R1 or AT1R, which is a target of hypertension drugs. | 1 |
5 | MBL2-G54D | Low | Likely | Likely pathogenic Recessive, Carrier (Heterozygous) | 0.103923 | This variant is associated with mannose binding protein deficiency which leads to impaired complement system immune response to mannose-rich pathogens. Patients homozygous for this allele or compound heterozygous are likely to have increased susceptibility to infection, but Hellemann et al. report heterosis for intensive care outcomes in heterozygous subjects. The wild-type version of this gene is known as variant allele A, while this is called variant allele B. See R52C (variant D) and G57E (variant C). | 1 |
6 | KRT5-G138E | Low | Likely | Likely pathogenic Unknown, Heterozygous | 0.0521472 | This variant is associated with 1.25x increased risk of basal cell carcinoma (common skin cancer, rarely malignant). | 1 |
7 | MTRR-I49M | Low | Likely | Likely pathogenic Recessive, Carrier (Heterozygous) | 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 |
8 | ELAC2-S217L | Low | Uncertain | Uncertain pathogenic Complex/Other, Heterozygous | 0.273471 | Reported to be associated with increased susceptibility to prostate cancer, but later studies weaken the hypothesis. Xu et al.'s meta-analysis concludes that there is a small but significant increased risk (OR = 1.13). Assuming a lifetime risk of 16% for prostate cancer we calculate this leads to an increased risk of ~1.5% (17.5% total). | 1 |
9 | POLG-Q1236H | Low | Uncertain | Uncertain pathogenic Complex/Other, Homozygous | 0.0581893 | Generally a nonpathogenic polymorphism, but may have a modifier effect that increases severity when combined in cis with other pathogenic variants. | 1 |
10 | TGIF1-P83Shift | Low | Uncertain | Uncertain pathogenic Complex/Other, Homozygous | 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 |
11 | 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 |
12 | 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 |
13 | 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 |
14 | 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 |
15 | WFS1-R611H | Low | Uncertain | Uncertain not reviewed Recessive, Carrier (Heterozygous) | 0.400446 | This nonsynonymous SNP is associated with Wolfram Syndrome (known as DIDMOAD), which is characterized by early-onset non-autoimmune diabetes mellitus, diabetes insipidus, optic atrophy, and deafness) and to adult Type Two Diabetes Mellitus. The WFS1 gene maps to chromosome 4p16.3. The variant has been shown to be statistically associated with type II diabetes in six UK studies and one study of Ashkenazi Jews (Sandhu, M., et al., Minton et al.). | 1 |
16 | CYP2C9-R144C | Moderate | Well-established | Well-established pharmacogenetic Unknown, Heterozygous | 0.0970982 | This variant, also called CYP2C9*2, is a pharmacogenetic variant that modulates sensitivity for Warfarin (due to reduced metabolism). This variant is associated with Caucasians. The FDA has approved reduced recommended Warfarin dosage based on the presence of this variant. | 1 |
17 | ABCC6-R1268Q | Low | Uncertain | Uncertain pharmacogenetic Unknown, Heterozygous | 0.218907 | This common polymorphism appears to not have a significant phenotypic impact. A few studies report weak but significant associations with plasma lipids (in Inuits) and thalidomide toxicity. | 1 |
18 | PRNP-M129V | Low | Well-established | Well-established protective Complex/Other, Heterozygous | 0.339561 | This variant is associated with some protective effects for prion disease -- individuals homozygous for this variant are less susceptible to Creutzfeldt-Jakob, and Papua New Guinea individuals heterozygotes at this site are less susceptible to kuru. | 1 |
19 | CASP10-V410I | Low | Likely | Likely protective Dominant, Heterozygous | 0.0474066 | Reported to have a protective effect on breast cancer. If the lifetime risk of breast cancer is 12%, women with this variant may have a lower risk of 8-9% (30% less than average). | 1 |
20 | 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 |
21 | NPC1-H215R | Low | Likely | Likely protective Complex/Other, Homozygous | 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 |
22 | 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 |
23 | MTR-D919G | Low | Uncertain | Uncertain protective Complex/Other, Heterozygous | 0.217234 | This variant was weakly associated with a protective effect vs. colorectal cancer, but only in individuals with low alcohol consumption. | 1 |
24 | IRS2-G1057D | Low | Uncertain | Uncertain protective Unknown, Heterozygous | 0.232615 | a.k.a Gly1057Asp, insulin receptor substrate-2 IRS2. The rs1805097(G) allele is associated with the Gly, and the (A) allele with Asp. A longevity study concluded that rs1805097(A;A) individuals were about twice as likely to live over 85 y/o (odds ratio 2.03, CI:1.39-2.99, p = .0003). | 1 |
25 | LPL-S474X | Low | Uncertain | Uncertain protective Unknown, Heterozygous | 0.0844953 | This variant actually increases LPL enzyme activity despite creating a termination codon (see Rip J et al). It appears to be a protective variant, associated with lower triglyceride levels--although the effect is quite weak and explains only 0.5-1% of triglyceride variation. | 1 |
26 | DMD-R2155W | Low | Likely | Likely benign Unknown, Homozygous | 0.0269529 | Probably benign. | 1 |
27 | CACNA1S-L458H | Low | Likely | Likely benign Unknown, Homozygous | 0.27282 | Common polymorphism | 1 |
28 | FLT4-N149D | Low | Likely | Likely benign Unknown, Heterozygous | 0.0725056 | Other severe variants in this gene are implicated in causing Milroy Disease (primary lymphedema) in a recessive manner. Although this variant is rare (2.3% allele frequency), it is still common enough that it is highly unlikely to have a severe, high penetrance pathogenic effect. | 1 |
29 | MLH1-I219V | Low | Uncertain | Uncertain benign Dominant, Homozygous | 0.239822 | Computational evidence, functional assays, and case/control studies suggest this variant is probably benign. | 1 |
30 | LOXL1-R141L | Low | Uncertain | Uncertain benign Complex/Other, Homozygous | 0.255899 | Associated with exfoliative glaucoma & syndrome (XFG & XFS) in various populations, but with contradicting results (protective in Caucasians, pathogenic in Japanese). Based on this it seems the variation itself -- although it affects protein structure -- is not itself causing disease. Instead it is likely associated with other nearby causal variants. As such, it is evaluated as benign by GET-Evidence (which focuses on reporting causal variants). See detailed variant report for disease risk associations. | 1 |
31 | 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 |
32 | TPCN2-G734E | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.286166 | Pigmentation allele. | 1 |
33 | 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 |
34 | MUSK-T100M | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.023413 | Probably benign. | 1 |
35 | 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 |
36 | FANCA-S1088F | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0584681 | Probably benign. One report hypothesized this variant causing Fanconi Anemia, but the allele frequency (3-7%) is high enough to contradict a highly penetrant pathogenic effect. Later authors have concluded this is a polymorphism, not pathogenic. | 1 |
37 | BRCA1-Q356R | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0462911 | One common variant associated this variant with an increased risk of breast cancer, but a more recent, larger study found no association. | 1 |
38 | APOB-Y1422C | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.999628 | This position is almost certainly an error in the HG18 reference sequence. | 1 |
39 | NSD1-A2546T | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0254001 | Benign, reported as a polymorphism. | 1 |
40 | 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 |
41 | 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 |
42 | 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 |
43 | NTRK1-G613V | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0429448 | Also called G607V, this variant has been reported as a nonpathogenic polymorphism. | 1 |
44 | 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 |
Row number | Variant | Prioritization score | Allele freq | Num of articles | Zygosity and Prioritization Score Reasons | Sufficient |
---|
Exome coverage: 32796288 / 33282720 = 98.54%
Row number | Gene | Chromosome | Coverage | Missing | Length | Missing regions |
---|---|---|---|---|---|---|
1 | AGRN | 1 | 0.93939393939394 | 372 | 6138 | 955553-955678, 955706-955708, 955748-955753, 976210, 976653, 976665-976668, 976728, 977056-977082, 979003-979013, 981861, 981867, 981919, 981922, 981926, 981958-981963, 981970-981978, 981981-981986, 982024-982026, 982031, 983395-983397, 983408-983409, 983419, 983601-983745, 984696, 984699, 985654-985660, 986833-986834 |
2 | GABRD | 1 | 0.96688741721854 | 45 | 1359 | 1950863-1950886, 1950892-1950894, 1950897-1950905, 1950912, 1950923-1950930 |
3 | PEX10 | 1 | 0.99898063200815 | 1 | 981 | 2338318 |
4 | NPHP4 | 1 | 0.99976640971736 | 1 | 4281 | 5925252 |
5 | ESPN | 1 | 0.82183235867446 | 457 | 2565 | 6485103-6485106, 6485111, 6488319-6488336, 6488378-6488392, 6488426-6488432, 6500406, 6500421-6500455, 6500482-6500488, 6500686-6500792, 6500826-6500868, 6501062, 6501097-6501103, 6505776-6505798, 6505814-6505830, 6505844-6505923, 6508701-6508733, 6508760-6508766, 6508829-6508830, 6508922-6508928, 6508954-6508988, 6512127-6512133 |
6 | PLEKHG5 | 1 | 0.96864220758859 | 100 | 3189 | 6529463-6529464, 6534098-6534099, 6534103-6534120, 6534124-6534127, 6534130, 6534133-6534135, 6534165-6534168, 6534222-6534224, 6534521-6534523, 6534530-6534537, 6534547-6534584, 6534593-6534598, 6534607-6534613, 6534647 |
7 | KIF1B | 1 | 0.99736495388669 | 14 | 5313 | 10356996-10357003, 10357044, 10425557-10425558, 10425584-10425586 |
8 | TARDBP | 1 | 0.96144578313253 | 48 | 1245 | 11082315-11082362 |
9 | MFN2 | 1 | 0.99956024626209 | 1 | 2274 | 12066749 |
10 | CTRC | 1 | 0.9913258983891 | 7 | 807 | 15770000-15770006 |
11 | CLCNKA | 1 | 0.99660852713178 | 7 | 2064 | 16360141-16360147 |
12 | CLCNKB | 1 | 0.99321705426357 | 14 | 2064 | 16373044-16373050, 16383399-16383405 |
13 | ATP13A2 | 1 | 0.99689528648038 | 11 | 3543 | 17313568, 17322608-17322617 |
14 | PINK1 | 1 | 0.99083619702176 | 16 | 1746 | 20960230, 20960275, 20960321, 20960325-20960327, 20960385-20960388, 20960398-20960403 |
15 | HSPG2 | 1 | 0.99483910139648 | 68 | 13176 | 22175281-22175282, 22181422, 22191822, 22199495, 22263648-22263710 |
16 | WNT4 | 1 | 0.92708333333333 | 77 | 1056 | 22469339-22469415 |
17 | SEPN1 | 1 | 0.89028776978417 | 183 | 1668 | 26126722-26126904 |
18 | KCNQ4 | 1 | 0.98754789272031 | 26 | 2088 | 41249766-41249788, 41284292-41284294 |
19 | CLDN19 | 1 | 0.97333333333333 | 18 | 675 | 43201551-43201568 |
20 | STIL | 1 | 0.99612102404965 | 15 | 3867 | 47728588-47728599, 47767989-47767990, 47775975 |
21 | ORC1 | 1 | 0.99149265274555 | 22 | 2586 | 52841114-52841117, 52851544-52851561 |
22 | DHCR24 | 1 | 0.99161831076725 | 13 | 1551 | 55352584-55352588, 55352595-55352602 |
23 | PCSK9 | 1 | 0.997594997595 | 5 | 2079 | 55505546, 55505553-55505555, 55529187 |
24 | ALG6 | 1 | 0.98104575163399 | 29 | 1530 | 63881564, 63881573-63881600 |
25 | CTH | 1 | 0.9991789819376 | 1 | 1218 | 70883704 |
26 | GLMN | 1 | 0.97647058823529 | 42 | 1785 | 92731981-92732022 |
27 | RPL5 | 1 | 0.98545861297539 | 13 | 894 | 93307338, 93307355-93307358, 93307360-93307367 |
28 | ABCA4 | 1 | 0.99956024626209 | 3 | 6822 | 94490521, 94497527, 94497541 |
29 | DPYD | 1 | 0.99122807017544 | 27 | 3078 | 97564147, 97564150, 97847949, 97848010-97848017, 98060648-98060649, 98144691, 98144715, 98157302-98157313 |
30 | AGL | 1 | 0.99478147423353 | 24 | 4599 | 100340767-100340770, 100340781-100340784, 100380993-100381008 |
31 | DBT | 1 | 0.98274672187716 | 25 | 1449 | 100701043-100701067 |
32 | COL11A1 | 1 | 0.96261682242991 | 204 | 5457 | 103364222-103364314, 103364511-103364512, 103364527-103364541, 103364547-103364550, 103377757, 103388929, 103412442, 103427435, 103427743, 103427771-103427782, 103427786, 103427800, 103435776-103435782, 103435784-103435828, 103440425, 103470208-103470217, 103496714, 103496787, 103548411, 103548414, 103548525-103548528 |
33 | GSTM1 | 1 | 0.36834094368341 | 415 | 657 | 110230496-110230531, 110230792-110230816, 110230839-110230841, 110230854, 110231302, 110231670-110231672, 110231691, 110231710-110231751, 110231847-110231947, 110232893-110232988, 110233076-110233179, 110235881-110235882 |
34 | NGF | 1 | 0.99035812672176 | 7 | 726 | 115828691-115828696, 115828708 |
35 | VANGL1 | 1 | 0.99936507936508 | 1 | 1575 | 116226624 |
36 | HSD3B2 | 1 | 0.99910634495085 | 1 | 1119 | 119964974 |
37 | PHGDH | 1 | 0.99750312109863 | 4 | 1602 | 120286630-120286633 |
38 | NOTCH2 | 1 | 0.97262675296656 | 203 | 7416 | 120539665-120539714, 120539739-120539784, 120539913-120539939, 120547962-120547968, 120548025, 120548051, 120548055, 120548091-120548097, 120572544-120572575, 120572609-120572610, 120611960-120611967, 120612000-120612020 |
39 | FLG | 1 | 0.99803052683407 | 24 | 12186 | 152278434, 152279403-152279410, 152279726-152279732, 152279892, 152281350-152281356 |
40 | GBA | 1 | 0.98696461824953 | 21 | 1611 | 155204991-155205011 |
41 | SEMA4A | 1 | 0.99343832020997 | 15 | 2286 | 156131239-156131247, 156131254-156131259 |
42 | NTRK1 | 1 | 0.98285236302802 | 41 | 2391 | 156830727-156830752, 156830779-156830791, 156843606, 156843610 |
43 | MPZ | 1 | 0.998712998713 | 1 | 777 | 161276186 |
44 | SLC19A2 | 1 | 0.99799196787149 | 3 | 1494 | 169454958-169454960 |
45 | F5 | 1 | 0.99580524344569 | 28 | 6675 | 169510325-169510344, 169510364-169510370, 169521940 |
46 | DARS2 | 1 | 0.98968008255934 | 20 | 1938 | 173802554, 173802568-173802571, 173802577-173802584, 173803651-173803657 |
47 | NPHS2 | 1 | 0.99739583333333 | 3 | 1152 | 179544824-179544825, 179544828 |
48 | RNASEL | 1 | 0.99730458221024 | 6 | 2226 | 182555110-182555112, 182555115-182555117 |
49 | LAMC2 | 1 | 0.99972082635399 | 1 | 3582 | 183155508 |
50 | HMCN1 | 1 | 0.9995268511947 | 8 | 16908 | 186022115, 186034414, 186052068, 186052083, 186113309-186113312 |
51 | PDC | 1 | 0.96491228070175 | 26 | 741 | 186418566-186418591 |
52 | CDC73 | 1 | 0.99937343358396 | 1 | 1596 | 193111049 |
53 | CFH | 1 | 0.9672619047619 | 121 | 3696 | 196643067, 196643076-196643079, 196643090, 196648767-196648771, 196648853-196648864, 196648869-196648872, 196658603-196658610, 196658674-196658675, 196658706, 196659193, 196659283, 196659295, 196659346, 196682884, 196682920, 196697481, 196706605-196706615, 196706710, 196706715, 196706730-196706748, 196706751, 196716353-196716395 |
54 | CFHR1 | 1 | 0.96273917421954 | 37 | 993 | 196797213-196797247, 196801042, 196801078 |
55 | CFHR5 | 1 | 0.99122807017544 | 15 | 1710 | 196953091-196953092, 196953098, 196953211, 196953221-196953222, 196963281, 196967258, 196967269, 196967406-196967411 |
56 | ASPM | 1 | 0.99923327582902 | 8 | 10434 | 197060041, 197069606, 197072171, 197113179-197113180, 197113183, 197113214-197113215 |
57 | CACNA1S | 1 | 0.99982212735681 | 1 | 5622 | 201047111 |
58 | CD46 | 1 | 0.99166666666667 | 10 | 1200 | 207956658-207956667 |
59 | USH2A | 1 | 0.99692485104747 | 48 | 15609 | 215914843-215914844, 215914847, 215916519-215916548, 215916563, 215916593, 215916596-215916600, 215916636, 216251484, 216369951, 216496841, 216496863, 216496868, 216496871, 216496885 |
60 | GJC2 | 1 | 0.80984848484848 | 251 | 1320 | 228345540, 228345579-228345584, 228345593-228345597, 228345611-228345613, 228345624, 228345635, 228345639-228345642, 228345670, 228345675-228345683, 228345692-228345697, 228345701, 228345764, 228345780-228345784, 228345792, 228345803-228345831, 228345913-228345915, 228345980, 228345983, 228345986, 228346010-228346055, 228346066, 228346080-228346082, 228346085-228346108, 228346113-228346116, 228346141-228346170, 228346338-228346357, 228346364-228346372, 228346391-228346417, 228346475, 228346622-228346624, 228346632-228346633, 228346683 |
61 | ACTA1 | 1 | 0.98677248677249 | 15 | 1134 | 229567914-229567928 |
62 | GNPAT | 1 | 0.9990210474792 | 2 | 2043 | 231401094-231401095 |
63 | LYST | 1 | 0.98430650534806 | 179 | 11406 | 235875372-235875403, 235875422-235875447, 235875479-235875486, 235875491-235875497, 235896981-235896985, 235897140, 235897168, 235897831-235897834, 235907313-235907314, 235907421, 235907425, 235915324-235915327, 235916354, 235944326-235944332, 235944351, 235945242-235945253, 235950500-235950504, 235950531-235950580, 235956814-235956819, 235956883, 235967911, 235967915-235967917 |
64 | MTR | 1 | 0.99921011058452 | 3 | 3798 | 237060942-237060944 |
65 | RYR2 | 1 | 0.99570585077831 | 64 | 14904 | 237656299, 237656387, 237777834, 237791279-237791285, 237796906, 237798208, 237821244-237821277, 237821281-237821287, 237821321-237821322, 237838071, 237881767-237881770, 237881780-237881783 |
66 | FH | 1 | 0.99804305283757 | 3 | 1533 | 241661128, 241663862, 241672060 |
67 | NLRP3 | 1 | 0.99903567984571 | 3 | 3111 | 247588009-247588011 |
68 | NET1 | 10 | 0.99888330541597 | 2 | 1791 | 5493834-5493835 |
69 | CUBN | 10 | 0.99742457689478 | 28 | 10872 | 16960647, 17032385, 17032432, 17085835-17085841, 17085939, 17085944-17085945, 17085949, 17085958-17085961, 17142040-17142049 |
70 | PTF1A | 10 | 0.90577507598784 | 93 | 987 | 23481760-23481783, 23481871, 23481897-23481929, 23481941-23481975 |
71 | MYO3A | 10 | 0.99979385693671 | 1 | 4851 | 26385575 |
72 | PDSS1 | 10 | 0.99358974358974 | 8 | 1248 | 26998658-26998665 |
73 | RET | 10 | 0.97518684603886 | 83 | 3345 | 43572707-43572779, 43596033-43596042 |
74 | ERCC6 | 10 | 0.99152164212405 | 38 | 4482 | 50740804-50740841 |
75 | CHAT | 10 | 0.91944815309301 | 181 | 2247 | 50822246-50822256, 50822274-50822440, 50822454, 50822457, 50822469 |
76 | PCDH15 | 10 | 0.98573611818645 | 84 | 5889 | 55582485, 55582488-55582491, 55616935-55616937, 55721621-55721652, 55826517, 55826615, 55973714-55973722, 55973732-55973751, 56128893, 56128948-56128950, 56128966, 56138655-56138662 |
77 | CDH23 | 10 | 0.99990055688146 | 1 | 10056 | 73544794 |
78 | VCL | 10 | 0.99941262848752 | 2 | 3405 | 75871725-75871726 |
79 | LDB3 | 10 | 0.99725274725275 | 6 | 2184 | 88476084-88476086, 88476245, 88476248, 88476417 |
80 | BMPR1A | 10 | 0.99499687304565 | 8 | 1599 | 88677025-88677032 |
81 | PTEN | 10 | 0.99917491749175 | 1 | 1212 | 89692886 |
82 | LIPA | 10 | 0.99916666666667 | 1 | 1200 | 90988003 |
83 | HPS1 | 10 | 0.99952516619183 | 1 | 2106 | 100177369 |
84 | ABCC2 | 10 | 0.9969814575248 | 14 | 4638 | 101578953-101578966 |
85 | PAX2 | 10 | 0.99923017705928 | 1 | 1299 | 102566239 |
86 | FBXW4 | 10 | 0.99919289749798 | 1 | 1239 | 103371143 |
87 | HPS6 | 10 | 0.99742268041237 | 6 | 2328 | 103825323, 103827016-103827020 |
88 | SUFU | 10 | 0.98350515463918 | 24 | 1455 | 104263957-104263978, 104263987, 104309845 |
89 | EMX2 | 10 | 0.99077733860343 | 7 | 759 | 119302934-119302940 |
90 | FGFR2 | 10 | 0.99878197320341 | 3 | 2463 | 123246887-123246889 |
91 | HTRA1 | 10 | 0.92238392238392 | 112 | 1443 | 124221169-124221235, 124221246-124221250, 124221256-124221263, 124221281-124221297, 124221309, 124221316, 124221324, 124221336, 124221367-124221371, 124221382-124221386, 124221437 |
92 | OAT | 10 | 0.99924242424242 | 1 | 1320 | 126097185 |
93 | SLC25A22 | 11 | 0.97530864197531 | 24 | 972 | 792635, 792639-792645, 792666-792668, 792671-792673, 792686-792687, 792880-792886, 792901 |
94 | PNPLA2 | 11 | 0.9993399339934 | 1 | 1515 | 819887 |
95 | CTSD | 11 | 0.94430992736077 | 69 | 1239 | 1775326-1775368, 1785022, 1785029, 1785036-1785042, 1785045, 1785057, 1785064-1785073, 1785078-1785082 |
96 | TH | 11 | 0.98412698412698 | 25 | 1575 | 2191929-2191945, 2191948, 2191951-2191954, 2191965-2191966, 2191999 |
97 | KCNQ1 | 11 | 0.99606105366814 | 8 | 2031 | 2466332, 2466338-2466341, 2466505, 2466508-2466509 |
98 | CDKN1C | 11 | 0.71503680336488 | 271 | 951 | 2905903, 2905942-2905945, 2905957, 2905970-2905972, 2905999-2906002, 2906006-2906007, 2906016, 2906044-2906054, 2906062-2906216, 2906234, 2906240-2906241, 2906245, 2906319-2906321, 2906329, 2906391-2906396, 2906401-2906418, 2906440-2906479, 2906489-2906505 |
99 | SMPD1 | 11 | 0.99525316455696 | 9 | 1896 | 6411935-6411941, 6412745-6412746 |
100 | SBF2 | 11 | 0.99387387387387 | 34 | 5550 | 9838387-9838400, 9838404, 9983560, 10013978-10013995 |
101 | USH1C | 11 | 0.9662962962963 | 91 | 2700 | 17531044-17531047, 17531051, 17531113-17531129, 17531148-17531181, 17531232, 17531279, 17531303-17531335 |
102 | LDHA | 11 | 0.99299299299299 | 7 | 999 | 18422437-18422443 |
103 | ANO5 | 11 | 0.95660102115244 | 119 | 2742 | 22261141, 22276922-22276925, 22276932-22276937, 22276961-22277068 |
104 | PAX6 | 11 | 0.99921197793538 | 1 | 1269 | 31824310 |
105 | WT1 | 11 | 0.96911196911197 | 48 | 1554 | 32456508-32456514, 32456685-32456714, 32456723, 32456726, 32456736-32456741, 32456757-32456758, 32456792 |
106 | PDHX | 11 | 0.99933598937583 | 1 | 1506 | 34982042 |
107 | SLC35C1 | 11 | 0.99810606060606 | 2 | 1056 | 45827806, 45827840 |
108 | PEX16 | 11 | 0.99519692603266 | 5 | 1041 | 45937363, 45937366-45937369 |
109 | SLC39A13 | 11 | 0.99820788530466 | 2 | 1116 | 47431699, 47431728 |
110 | TMEM216 | 11 | 0.99621212121212 | 1 | 264 | 61165280 |
111 | BEST1 | 11 | 0.9971558589306 | 5 | 1758 | 61725758-61725761, 61725764 |
112 | BSCL2 | 11 | 0.99928005759539 | 1 | 1389 | 62472930 |
113 | SLC22A12 | 11 | 0.99879663056558 | 2 | 1662 | 64367289-64367290 |
114 | SPTBN2 | 11 | 0.9997211766346 | 2 | 7173 | 66472528, 66481856 |
115 | PC | 11 | 0.99886909810574 | 4 | 3537 | 66619341-66619343, 66620096 |
116 | AIP | 11 | 0.99597180261833 | 4 | 993 | 67257559-67257562 |
117 | TCIRG1 | 11 | 0.99839550742078 | 4 | 2493 | 67811346-67811349 |
118 | LRP5 | 11 | 0.98411716171617 | 77 | 4848 | 68080183-68080246, 68131220, 68131238-68131243, 68131246-68131247, 68207352, 68207378, 68207381-68207382 |
119 | DHCR7 | 11 | 0.98389355742297 | 23 | 1428 | 71146575-71146577, 71146584, 71146659-71146665, 71146675-71146686 |
120 | MYO7A | 11 | 0.99909747292419 | 6 | 6648 | 76922282-76922283, 76922292-76922295 |
121 | TYR | 11 | 0.99308176100629 | 11 | 1590 | 89017941-89017951 |
122 | MTMR2 | 11 | 0.98861283643892 | 22 | 1932 | 95657068, 95657091-95657109, 95657111, 95657115 |
123 | DYNC2H1 | 11 | 0.9784472769409 | 279 | 12945 | 102984294, 102984313-102984316, 102984364, 102984374, 102984388, 102984433-102984436, 102991490, 102991654-102991658, 102991668, 102991676, 102995903-102995909, 102999688, 102999705, 103024111, 103024159-103024172, 103024234-103024237, 103029406, 103029432-103029433, 103029513, 103029516, 103029524, 103029528, 103031689-103031690, 103031730, 103031744, 103031747, 103036759-103036761, 103043811-103043846, 103043908-103043924, 103043991, 103043997, 103044009-103044014, 103044032, 103052515-103052519, 103052540, 103052578-103052589, 103055668-103055671, 103059226-103059229, 103059234-103059236, 103059261-103059262, 103059269-103059275, 103059278-103059280, 103062246-103062274, 103062837, 103062919-103062925, 103062974, 103062985, 103070173, 103082533, 103082541, 103107164, 103114512-103114515, 103126880, 103126885-103126891, 103126894, 103126900-103126914, 103130682-103130686, 103173890-103173892, 103173901-103173906, 103173920, 103182638, 103191856-103191863, 103194621-103194638 |
124 | ACAT1 | 11 | 0.99922118380062 | 1 | 1284 | 108005941 |
125 | ATM | 11 | 0.97830116672119 | 199 | 9171 | 108098352-108098385, 108098532-108098538, 108098550-108098596, 108098613-108098614, 108126957-108126964, 108126975-108127067, 108153438, 108153441, 108172472-108172473, 108188246-108188248, 108196165 |
126 | RDX | 11 | 0.9925799086758 | 13 | 1752 | 110124733, 110134685-110134696 |
127 | DLAT | 11 | 0.97685185185185 | 45 | 1944 | 111909968-111909981, 111909996-111909999, 111910008-111910034 |
128 | APOA1 | 11 | 0.99751243781095 | 2 | 804 | 116706795-116706796 |
129 | TECTA | 11 | 0.99984532095901 | 1 | 6465 | 121031040 |
130 | ROBO3 | 11 | 0.99807738524393 | 8 | 4161 | 124745098-124745101, 124745104-124745105, 124748635-124748636 |
131 | WNK1 | 12 | 0.99846743295019 | 2 | 1305 | 977164-977165 |
132 | WNK1 | 12 | 0.99930060148272 | 5 | 7149 | 994810-994813, 996460 |
133 | CACNA1C | 12 | 0.99893308946807 | 7 | 6561 | 2794934-2794940 |
134 | KCNA1 | 12 | 0.99932795698925 | 1 | 1488 | 5020690 |
135 | VWF | 12 | 0.98803601042407 | 101 | 8442 | 6121282, 6122647-6122650, 6122709, 6122713-6122714, 6127655-6127661, 6127726-6127732, 6128167-6128173, 6128339-6128345, 6128449-6128451, 6128479, 6131925-6131932, 6131955-6131976, 6132003-6132033 |
136 | TNFRSF1A | 12 | 0.99926900584795 | 1 | 1368 | 6438612 |
137 | ATN1 | 12 | 0.99188357122866 | 29 | 3573 | 7045390, 7045597, 7045600, 7045603-7045604, 7045892-7045909, 7045917-7045922 |
138 | GYS2 | 12 | 0.99431818181818 | 12 | 2112 | 21712025-21712034, 21712051, 21712082 |
139 | ABCC9 | 12 | 0.9905376344086 | 44 | 4650 | 21958982, 21998562-21998568, 21998572-21998573, 21998587-21998589, 22025604-22025607, 22025641, 22061064, 22063764-22063766, 22063791, 22063803, 22063806-22063818, 22063828-22063830, 22063843, 22063860, 22068675, 22068688 |
140 | FGD4 | 12 | 0.99956540634507 | 1 | 2301 | 32751440 |
141 | DNM1L | 12 | 0.99909543193125 | 2 | 2211 | 32866241, 32883949 |
142 | PKP2 | 12 | 0.99880668257757 | 3 | 2514 | 33049450-33049452 |
143 | KIF21A | 12 | 0.99538708383474 | 23 | 4986 | 39719661, 39719680-39719686, 39726750-39726755, 39726791, 39756900-39756906, 39756910 |
144 | LRRK2 | 12 | 0.97705696202532 | 174 | 7584 | 40643674-40643684, 40645158, 40657611, 40677873-40677880, 40692110-40692121, 40716974-40716975, 40717016-40717053, 40761446-40761447, 40761459-40761513, 40761524-40761567 |
145 | IRAK4 | 12 | 0.99276934201012 | 10 | 1383 | 44166772-44166775, 44166794, 44171512, 44180252, 44180256, 44180353-44180354 |
146 | VDR | 12 | 0.99376947040498 | 8 | 1284 | 48251303-48251308, 48251347-48251348 |
147 | COL2A1 | 12 | 0.99977598566308 | 1 | 4464 | 48369780 |
148 | MLL2 | 12 | 0.98844348140123 | 192 | 16614 | 49424127-49424133, 49424153-49424156, 49424170-49424186, 49426656-49426671, 49426726-49426743, 49426770, 49426774-49426779, 49426929-49426935, 49426956-49426966, 49427032, 49427057, 49427093, 49427259-49427304, 49427408-49427409, 49427655-49427687, 49427946-49427949, 49431860-49431865, 49434078-49434082, 49434285-49434286, 49434293-49434296 |
149 | TUBA1A | 12 | 0.96271929824561 | 17 | 456 | 49522195-49522211 |
150 | ACVRL1 | 12 | 0.99933862433862 | 1 | 1512 | 52307362 |
151 | KRT81 | 12 | 0.98221343873518 | 27 | 1518 | 52682999-52683005, 52684021-52684027, 52685115-52685127 |
152 | KRT86 | 12 | 0.98836413415469 | 17 | 1461 | 52696925-52696933, 52697948-52697955 |
153 | KRT6B | 12 | 0.96519174041298 | 59 | 1695 | 52843577-52843585, 52843632-52843637, 52844378-52844385, 52845365-52845371, 52845432-52845438, 52845563-52845577, 52845798-52845804 |
154 | KRT6C | 12 | 0.97345132743363 | 45 | 1695 | 52865295-52865300, 52867024-52867030, 52867091-52867108, 52867230-52867236, 52867457-52867463 |
155 | KRT6A | 12 | 0.96637168141593 | 57 | 1695 | 52881617-52881623, 52884732-52884737, 52886542-52886559, 52886681-52886687, 52886907-52886925 |
156 | KRT5 | 12 | 0.95205865764241 | 85 | 1773 | 52908809-52908819, 52908838-52908902, 52908917, 52908967, 52908972, 52909019-52909024 |
157 | KRT1 | 12 | 0.9922480620155 | 15 | 1935 | 53070155-53070161, 53072484-53072485, 53072510-53072513, 53072517-53072518 |
158 | GNS | 12 | 0.9789029535865 | 35 | 1659 | 65141668-65141669, 65152990-65153022 |
159 | LEMD3 | 12 | 0.98720760233918 | 35 | 2736 | 65612335-65612369 |
160 | CEP290 | 12 | 0.96384408602151 | 269 | 7440 | 88443054, 88443060-88443061, 88443067, 88443070-88443071, 88462330-88462347, 88462371-88462381, 88471636, 88471649-88471654, 88471665-88471670, 88471674, 88472910-88472942, 88472986-88473006, 88477003, 88478511-88478534, 88479828, 88479846-88479848, 88479852, 88481623-88481641, 88481656, 88490693-88490699, 88490736-88490739, 88490746, 88496779, 88502866-88502868, 88505471, 88505534, 88505589, 88513940-88513962, 88514036-88514045, 88519038, 88519072-88519080, 88519116, 88519131-88519136, 88519142-88519146, 88520215, 88522752-88522760, 88522778, 88522782-88522786, 88522789, 88522794-88522795, 88530486, 88530501, 88530557, 88532949-88532968 |
161 | TMPO | 12 | 0.99952038369305 | 1 | 2085 | 98928018 |
162 | SYCP3 | 12 | 0.9957805907173 | 3 | 711 | 102122900, 102122912, 102122972 |
163 | IGF1 | 12 | 0.99829931972789 | 1 | 588 | 102813435 |
164 | ATXN2 | 12 | 0.95281582952816 | 186 | 3942 | 112036624-112036625, 112036628-112036629, 112036710, 112036715-112036717, 112036733-112036741, 112036744-112036746, 112036752-112036766, 112036773, 112036779-112036827, 112036861, 112036896-112036904, 112036915-112036919, 112036936-112036946, 112036949-112036954, 112036973, 112037020-112037024, 112037027, 112037049-112037087, 112037093-112037106, 112037210, 112037218-112037219, 112037222-112037227 |
165 | PTPN11 | 12 | 0.99102132435466 | 16 | 1782 | 112891157, 112891177-112891191 |
166 | SDS | 12 | 0.99290780141844 | 7 | 987 | 113831707-113831713 |
167 | TBX5 | 12 | 0.99935773924213 | 1 | 1557 | 114804124 |
168 | TBX3 | 12 | 0.99955197132616 | 1 | 2232 | 115112020 |
169 | HNF1A | 12 | 0.99736286919831 | 5 | 1896 | 121437408, 121437412, 121438902-121438904 |
170 | ATP6V0A2 | 12 | 0.99961104628549 | 1 | 2571 | 124203247 |
171 | SACS | 13 | 0.99890829694323 | 15 | 13740 | 23907769-23907779, 23949273-23949276 |
172 | PDX1 | 13 | 0.97183098591549 | 24 | 852 | 28494398-28494421 |
173 | BRCA2 | 13 | 0.99863507848299 | 14 | 10257 | 32972622-32972635 |
174 | FREM2 | 13 | 0.998738170347 | 12 | 9510 | 39261565-39261573, 39450256, 39450259, 39450269 |
175 | SUCLA2 | 13 | 0.99066091954023 | 13 | 1392 | 48528276, 48528280-48528284, 48547471, 48571016-48571020, 48571023 |
176 | RB1 | 13 | 0.99318263365626 | 19 | 2787 | 48878088, 48878091, 48934153, 48934216-48934227, 48941674-48941675, 49051519-49051520 |
177 | ATP7B | 13 | 0.99840836743975 | 7 | 4398 | 52523871-52523873, 52523877-52523880 |
178 | CLN5 | 13 | 0.99918300653595 | 1 | 1224 | 77575041 |
179 | ZIC2 | 13 | 0.90556597873671 | 151 | 1599 | 100634388-100634401, 100635008-100635010, 100637594-100637597, 100637636-100637637, 100637703-100637705, 100637723, 100637734-100637744, 100637805-100637877, 100637883-100637922 |
180 | PCCA | 13 | 0.99085505258345 | 20 | 2187 | 100909907-100909922, 100925450-100925452, 100962152 |
181 | ERCC5 | 13 | 0.99834866713848 | 7 | 4239 | 103468786, 103468791-103468793, 103468807-103468808, 103468867 |
182 | COL4A1 | 13 | 0.9998003992016 | 1 | 5010 | 110864266 |
183 | TEP1 | 14 | 0.99936580416032 | 5 | 7884 | 20846265-20846269 |
184 | SLC7A7 | 14 | 0.99544270833333 | 7 | 1536 | 23282122-23282128 |
185 | PABPN1 | 14 | 0.79478827361564 | 189 | 921 | 23790693-23790756, 23790817, 23790843, 23790854-23790862, 23790870-23790872, 23790877-23790892, 23790903-23790904, 23790911-23790915, 23790930, 23790943-23791029 |
186 | MYH7 | 14 | 0.99810606060606 | 11 | 5808 | 23886487-23886491, 23887585-23887590 |
187 | FOXG1 | 14 | 0.74421768707483 | 376 | 1470 | 29236542-29236571, 29236588, 29236620-29236964 |
188 | NKX2-1 | 14 | 0.98092868988391 | 23 | 1206 | 36986845-36986849, 36988373, 36988378-36988394 |
189 | FANCM | 14 | 0.97982755815845 | 124 | 6147 | 45623900, 45623911-45623919, 45623922, 45623928-45623934, 45623977-45623985, 45623988, 45623991-45624025, 45642299, 45646059-45646062, 45650633-45650650, 45650656-45650682, 45650900, 45650905-45650906, 45652988, 45667869-45667871, 45667903, 45667937, 45668079, 45668086 |
190 | C14orf104 | 14 | 0.99721559268099 | 7 | 2514 | 50092558, 50100811, 50101349-50101352, 50101633 |
191 | L2HGDH | 14 | 0.9992816091954 | 1 | 1392 | 50750620 |
192 | ATL1 | 14 | 0.96269554753309 | 62 | 1662 | 51054598-51054610, 51098962-51098968, 51098983-51099024 |
193 | PYGL | 14 | 0.99685534591195 | 8 | 2544 | 51381524-51381531 |
194 | GCH1 | 14 | 0.99734395750332 | 2 | 753 | 55310831, 55310834 |
195 | SYNE2 | 14 | 0.99194171009458 | 167 | 20724 | 64450592, 64457676-64457687, 64457698-64457705, 64457783-64457791, 64457798-64457799, 64457802-64457809, 64461817, 64467280-64467294, 64488120-64488123, 64488735, 64494378-64494401, 64498010, 64498016-64498017, 64498020, 64498027, 64516406-64516409, 64516412, 64519666-64519678, 64522727-64522764, 64522807, 64556318, 64556321, 64556349-64556359, 64556370-64556376 |
196 | VSX2 | 14 | 0.99907918968692 | 1 | 1086 | 74706434 |
197 | EIF2B2 | 14 | 0.96401515151515 | 38 | 1056 | 75471512-75471548, 75471593 |
198 | MLH3 | 14 | 0.99816597890876 | 8 | 4362 | 75506708-75506715 |
199 | ESRRB | 14 | 0.99279633267845 | 11 | 1527 | 76964701, 76964779-76964783, 76964788, 76964791-76964794 |
200 | GALC | 14 | 0.97959183673469 | 42 | 2058 | 88416189-88416227, 88448565, 88448568-88448569 |
201 | SPATA7 | 14 | 0.97444444444444 | 46 | 1800 | 88857758-88857765, 88859740-88859743, 88859812, 88859827-88859831, 88883149-88883176 |
202 | TTC8 | 14 | 0.99870801033592 | 2 | 1548 | 89305842, 89327609 |
203 | ATXN3 | 14 | 0.93554327808471 | 70 | 1086 | 92537355-92537357, 92559596-92559662 |
204 | VRK1 | 14 | 0.91015952980688 | 107 | 1191 | 97304099-97304154, 97322509-97322530, 97322557-97322585 |
205 | AMN | 14 | 0.94787077826725 | 71 | 1362 | 103390144, 103396526, 103396583-103396599, 103396608-103396633, 103396635-103396640, 103396643-103396648, 103396654, 103396812-103396819, 103396913-103396916, 103396922 |
206 | INF2 | 14 | 0.91733333333333 | 310 | 3750 | 105173771, 105173786, 105173859-105174149, 105174162-105174165, 105174167-105174170, 105174278-105174279, 105174285, 105174317, 105174323-105174327 |
207 | NIPA1 | 15 | 0.82020202020202 | 178 | 990 | 23086234-23086411 |
208 | OCA2 | 15 | 0.99523241954708 | 12 | 2517 | 28326939-28326942, 28326945-28326946, 28326972-28326977 |
209 | TRPM1 | 15 | 0.99376558603491 | 30 | 4812 | 31294061-31294075, 31294312-31294319, 31320555-31320561 |
210 | SLC12A6 | 15 | 0.99884158702577 | 4 | 3453 | 34547463-34547466 |
211 | SPRED1 | 15 | 0.98876404494382 | 15 | 1335 | 38614463, 38614469-38614471, 38614482, 38614488-38614490, 38641665-38641666, 38641676-38641679, 38641704 |
212 | CHST14 | 15 | 0.96463306808134 | 40 | 1131 | 40763446-40763470, 40763484-40763485, 40763503-40763508, 40763526-40763531, 40763588 |
213 | CDAN1 | 15 | 0.99972855591748 | 1 | 3684 | 43026515 |
214 | TTBK2 | 15 | 0.990093708166 | 37 | 3735 | 43067408, 43067856, 43103886-43103915, 43109256, 43109271, 43109290, 43164911, 43164916 |
215 | STRC | 15 | 0.98498498498498 | 80 | 5328 | 43896303-43896312, 43900150-43900156, 43903129, 43907745-43907751, 43910436-43910444, 43910858-43910903 |
216 | STRC | 15 | 0.99641025641026 | 7 | 1950 | 44007207-44007213 |
217 | DUOX2 | 15 | 0.99806326662363 | 9 | 4647 | 45398351-45398359 |
218 | GATM | 15 | 0.99921383647799 | 1 | 1272 | 45670617 |
219 | SLC12A1 | 15 | 0.99969696969697 | 1 | 3300 | 48577401 |
220 | FBN1 | 15 | 0.99918755803157 | 7 | 8616 | 48737574, 48784719-48784720, 48784733-48784736 |
221 | CEP152 | 15 | 0.99798590130916 | 10 | 4965 | 49036447, 49036500, 49036505, 49036521-49036526, 49061172 |
222 | SCG3 | 15 | 0.97938877043355 | 29 | 1407 | 51974714-51974742 |
223 | MAP2K1 | 15 | 0.99830795262267 | 2 | 1182 | 66779604-66779605 |
224 | HCN4 | 15 | 0.96373200442968 | 131 | 3612 | 73614874-73614909, 73614920-73614940, 73615029-73615062, 73616166-73616168, 73616591, 73659861-73659863, 73660074-73660096, 73660125, 73660304-73660305, 73660365-73660371 |
225 | PSTPIP1 | 15 | 0.99920063948841 | 1 | 1251 | 77328161 |
226 | POLG | 15 | 0.99650537634409 | 13 | 3720 | 89876828-89876839, 89876847 |
227 | MESP2 | 15 | 0.98994974874372 | 12 | 1194 | 90320138-90320149 |
228 | BLM | 15 | 0.9802538787024 | 84 | 4254 | 91328152, 91337401-91337422, 91337442-91337487, 91337522-91337525, 91337535-91337538, 91337545-91337551 |
229 | HBZ | 16 | 0.82983682983683 | 73 | 429 | 203956-203977, 203992, 204007, 204076, 204271-204315, 204341-204342, 204374 |
230 | HBM | 16 | 0.99295774647887 | 3 | 426 | 216338-216339, 216439 |
231 | IGFALS | 16 | 0.99792960662526 | 4 | 1932 | 1841099-1841102 |
232 | GFER | 16 | 0.91909385113269 | 50 | 618 | 2034229, 2034232-2034235, 2034239-2034241, 2034281-2034282, 2034288-2034290, 2034294-2034295, 2034319-2034326, 2034334-2034341, 2034346-2034349, 2034351-2034358, 2034361, 2034373-2034374, 2034411-2034414 |
233 | TSC2 | 16 | 0.99815634218289 | 10 | 5424 | 2103383-2103384, 2103394-2103397, 2103408, 2103433, 2103439-2103440 |
234 | PKD1 | 16 | 0.92479863692689 | 971 | 12912 | 2139889, 2139892, 2139895, 2140925, 2140932, 2140970-2141019, 2141029-2141058, 2147917, 2147946-2147973, 2149745-2149766, 2149873-2149921, 2149952-2149972, 2150019-2150025, 2150056-2150072, 2150167-2150174, 2150245-2150284, 2150397, 2150478-2150484, 2152086-2152092, 2152186-2152193, 2152605-2152611, 2152922-2152928, 2153302, 2153308, 2153592-2153598, 2153691-2153697, 2153711-2153742, 2153764-2153770, 2153820-2153826, 2153871, 2154570-2154611, 2155875-2155895, 2155981-2156024, 2156174-2156198, 2156399-2156404, 2156442-2156462, 2156494-2156500, 2156520-2156547, 2156935-2156941, 2158353, 2158521-2158527, 2158954-2158965, 2159042-2159048, 2159096-2159104, 2159113-2159114, 2159117, 2159127, 2159258, 2159403-2159409, 2159580-2159581, 2159712-2159735, 2159960-2159966, 2160721, 2160769-2160775, 2160812, 2161178, 2161697-2161709, 2162357-2162364, 2162917-2162919, 2163171-2163186, 2163251, 2164808, 2166535, 2166559-2166595, 2166972-2166982, 2167624-2167638, 2167871-2167877, 2167932, 2167975-2168001, 2168056-2168075, 2168129-2168170, 2168193-2168215, 2168390, 2185555-2185598, 2185607, 2185662-2185690 |
235 | ABCA3 | 16 | 0.99921798631476 | 4 | 5115 | 2354095-2354098 |
236 | CREBBP | 16 | 0.99577022786192 | 31 | 7329 | 3777731, 3778439, 3778443-3778447, 3778454-3778459, 3779027, 3779211, 3779420, 3779444-3779447, 3790422-3790430, 3830857, 3830860 |
237 | GLIS2 | 16 | 0.99873015873016 | 2 | 1575 | 4387371-4387372 |
238 | ALG1 | 16 | 0.94623655913978 | 75 | 1395 | 5128841-5128875, 5130993-5131000, 5131028-5131052, 5134815-5134821 |
239 | PMM2 | 16 | 0.99595141700405 | 3 | 741 | 8891778, 8891796, 8891802 |
240 | LITAF | 16 | 0.99588477366255 | 2 | 486 | 11643581-11643582 |
241 | ABCC6 | 16 | 0.9771719858156 | 103 | 4512 | 16313473-16313515, 16313679-16313685, 16315525-16315533, 16315576-16315611, 16315647-16315654 |
242 | UMOD | 16 | 0.99427977119085 | 11 | 1923 | 20344663-20344669, 20344688-20344690, 20360331 |
243 | OTOA | 16 | 0.99766081871345 | 8 | 3420 | 21742176-21742183 |
244 | SCNN1B | 16 | 0.99947997919917 | 1 | 1923 | 23360199 |
245 | COG7 | 16 | 0.9978383052313 | 5 | 2313 | 23436162-23436166 |
246 | PALB2 | 16 | 0.99943836001123 | 2 | 3561 | 23634354-23634355 |
247 | ATP2A1 | 16 | 0.99800399201597 | 6 | 3006 | 28912091-28912094, 28914760-28914761 |
248 | PHKG2 | 16 | 0.94021294021294 | 73 | 1221 | 30760150-30760195, 30760206-30760216, 30760219-30760232, 30760235-30760236 |
249 | FUS | 16 | 0.99430740037951 | 9 | 1581 | 31195279-31195284, 31195290, 31195293-31195294 |
250 | PHKB | 16 | 0.99786715417428 | 7 | 3282 | 47698803-47698808, 47698812 |
251 | CYLD | 16 | 0.99930118798043 | 2 | 2862 | 50788327, 50825474 |
252 | SALL1 | 16 | 0.98943396226415 | 42 | 3975 | 51171452-51171458, 51175469, 51175644-51175645, 51175648-51175657, 51175660-51175677, 51175687-51175690 |
253 | RPGRIP1L | 16 | 0.98632218844985 | 54 | 3948 | 53672249-53672295, 53682914, 53691365-53691370 |
254 | MMP2 | 16 | 0.99848714069592 | 3 | 1983 | 55513473-55513475 |
255 | SLC12A3 | 16 | 0.99935337859683 | 2 | 3093 | 56899207, 56921840 |
256 | GPR56 | 16 | 0.97722868217054 | 47 | 2064 | 57684245-57684247, 57695666-57695709 |
257 | HSD11B2 | 16 | 0.95402298850575 | 56 | 1218 | 67465165-67465167, 67465170-67465179, 67465199-67465209, 67465214-67465216, 67465236, 67465239-67465247, 67465255-67465264, 67465286-67465289, 67469976-67469979, 67469992 |
258 | LCAT | 16 | 0.99244142101285 | 10 | 1323 | 67973976-67973977, 67976992-67976996, 67977002-67977003, 67977111 |
259 | CDH3 | 16 | 0.99638554216867 | 9 | 2490 | 68679552-68679560 |
260 | CDH1 | 16 | 0.99660249150623 | 9 | 2649 | 68771335-68771337, 68771342, 68771350-68771354 |
261 | COG8 | 16 | 0.99836867862969 | 3 | 1839 | 69373258-69373260 |
262 | GCSH | 16 | 0.99808429118774 | 1 | 522 | 81116502 |
263 | MLYCD | 16 | 0.90688259109312 | 138 | 1482 | 83932787-83932793, 83932811-83932859, 83932877-83932910, 83932977-83932999, 83933009-83933027, 83933069, 83933099-83933102, 83933108 |
264 | FOXF1 | 16 | 0.99473684210526 | 6 | 1140 | 86544210-86544213, 86544216, 86544978 |
265 | JPH3 | 16 | 0.97774810858923 | 50 | 2247 | 87723268-87723274, 87723297-87723328, 87723345-87723355 |
266 | CYBA | 16 | 0.98469387755102 | 9 | 588 | 88709776, 88709803, 88709870-88709876 |
267 | APRT | 16 | 0.99815837937385 | 1 | 543 | 88876506 |
268 | GALNS | 16 | 0.9968132568515 | 5 | 1569 | 88923214-88923217, 88923263 |
269 | SPG7 | 16 | 0.99748743718593 | 6 | 2388 | 89579415-89579418, 89579421, 89579426 |
270 | FANCA | 16 | 0.99862637362637 | 6 | 4368 | 89838109-89838110, 89838113-89838116 |
271 | TUBB3 | 16 | 0.99260901699926 | 10 | 1353 | 90001927-90001929, 90001934-90001938, 90002039-90002040 |
272 | PRPF8 | 17 | 0.99985730593607 | 1 | 7008 | 1557123 |
273 | PAFAH1B1 | 17 | 0.99756690997567 | 3 | 1233 | 2579874-2579876 |
274 | ASPA | 17 | 0.99363057324841 | 6 | 942 | 3385068-3385072, 3402346 |
275 | ENO3 | 17 | 0.9992337164751 | 1 | 1305 | 4858481 |
276 | PITPNM3 | 17 | 0.96717948717949 | 96 | 2925 | 6358694-6358715, 6358724-6358794, 6459706, 6459719, 6459723 |
277 | GUCY2D | 17 | 0.98973429951691 | 34 | 3312 | 7906366-7906385, 7906398, 7906422, 7906438-7906440, 7919804-7919812 |
278 | ALOXE3 | 17 | 0.99953183520599 | 1 | 2136 | 8013244 |
279 | HES7 | 17 | 0.98525073746313 | 10 | 678 | 8024989-8024997, 8025002 |
280 | MYH8 | 17 | 0.99982800137599 | 1 | 5814 | 10316020 |
281 | MYH3 | 17 | 0.99982826721621 | 1 | 5823 | 10534937 |
282 | ELAC2 | 17 | 0.99556630390971 | 11 | 2481 | 12896188-12896197, 12903474 |
283 | COX10 | 17 | 0.97522522522523 | 33 | 1332 | 13977640-13977665, 14095345-14095351 |
284 | RAI1 | 17 | 0.99353259919594 | 37 | 5721 | 17696461, 17696482, 17697094-17697127, 17697131 |
285 | MYO15A | 17 | 0.99509109789484 | 52 | 10593 | 18024013-18024024, 18024033-18024041, 18024128, 18024148, 18024155, 18024283, 18024365-18024369, 18024405-18024411, 18024415-18024416, 18049333-18049338, 18057114, 18057134, 18057138-18057139, 18077173-18077175 |
286 | UNC119 | 17 | 0.92669432918396 | 53 | 723 | 26879356-26879381, 26879435, 26879441-26879443, 26879447-26879459, 26879509-26879511, 26879521-26879522, 26879533-26879537 |
287 | SLC6A4 | 17 | 0.99841521394612 | 3 | 1893 | 28543219, 28548904-28548905 |
288 | NF1 | 17 | 0.98333333333333 | 142 | 8520 | 29422341, 29422344, 29422356, 29422359-29422365, 29422374-29422387, 29546114-29546120, 29553690, 29554250-29554284, 29556224, 29559091, 29586089-29586090, 29588748-29588792, 29654517-29654527, 29654545, 29663388, 29664863-29664867, 29664876-29664883 |
289 | TCAP | 17 | 0.99007936507937 | 5 | 504 | 37822041-37822042, 37822114-37822116 |
290 | KRT10 | 17 | 0.91111111111111 | 156 | 1755 | 38975101, 38975118, 38975149, 38975205-38975253, 38975276-38975373, 38978763-38978768 |
291 | KRT9 | 17 | 0.99786324786325 | 4 | 1872 | 39723886-39723889 |
292 | KRT14 | 17 | 0.99577167019027 | 6 | 1419 | 39741304-39741309 |
293 | KRT16 | 17 | 0.92194092827004 | 111 | 1422 | 39766240-39766281, 39768412-39768418, 39768490-39768496, 39768658-39768698, 39768740-39768753 |
294 | KRT17 | 17 | 0.93379522709777 | 86 | 1299 | 39780378-39780420, 39780515-39780540, 39780555-39780571 |
295 | FKBP10 | 17 | 0.9937106918239 | 11 | 1749 | 39969288-39969297, 39969300 |
296 | STAT5B | 17 | 0.98942470389171 | 25 | 2364 | 40369477, 40369480, 40371359-40371365, 40371368-40371371, 40371441-40371452 |
297 | NAGLU | 17 | 0.99731182795699 | 6 | 2232 | 40688343, 40688653-40688657 |
298 | WNK4 | 17 | 0.9989281886388 | 4 | 3732 | 40932824, 40932829, 40932836-40932837 |
299 | BRCA1 | 17 | 0.99893899204244 | 6 | 5655 | 41222990-41222993, 41245686-41245687 |
300 | SOST | 17 | 0.99688473520249 | 2 | 642 | 41832881-41832882 |
301 | GRN | 17 | 0.98653198653199 | 24 | 1782 | 42429553-42429563, 42429582-42429593, 42429722 |
302 | ITGA2B | 17 | 0.99871794871795 | 4 | 3120 | 42463003-42463006 |
303 | PLEKHM1 | 17 | 0.99526963103122 | 15 | 3171 | 43522997-43523003, 43531203, 43535742-43535748 |
304 | WNT3 | 17 | 0.97097378277154 | 31 | 1068 | 44851098-44851105, 44851129, 44851137, 44851189, 44851197, 44851200-44851215, 44851221-44851223 |
305 | ITGB3 | 17 | 0.99493029150824 | 12 | 2367 | 45331237-45331248 |
306 | COL1A1 | 17 | 0.99886234357224 | 5 | 4395 | 48265936-48265939, 48265948 |
307 | NOG | 17 | 0.99856938483548 | 1 | 699 | 54671845 |
308 | RAD51C | 17 | 0.9973474801061 | 3 | 1131 | 56770068, 56809886-56809887 |
309 | TRIM37 | 17 | 0.99965457685665 | 1 | 2895 | 57168667 |
310 | AP1S2 | 17 | 0.99358974358974 | 4 | 624 | 58180053, 58180061-58180062, 58180066 |
311 | BRIP1 | 17 | 0.98026666666667 | 74 | 3750 | 59793370-59793373, 59857692, 59870982-59871019, 59871046-59871071, 59924504-59924505, 59934438, 59934451, 59934464 |
312 | ACE | 17 | 0.98928844682479 | 42 | 3921 | 61554480-61554517, 61566095, 61566098, 61574574, 61574607 |
313 | POLG2 | 17 | 0.99931412894376 | 1 | 1458 | 62476459 |
314 | AXIN2 | 17 | 0.99881516587678 | 3 | 2532 | 63554542-63554544 |
315 | SOX9 | 17 | 0.99346405228758 | 10 | 1530 | 70119828, 70120065-70120066, 70120070, 70120075-70120080 |
316 | COG1 | 17 | 0.98810737342847 | 35 | 2943 | 71189237, 71189258-71189263, 71189282-71189283, 71189286-71189287, 71189302, 71189315-71189317, 71189323, 71189339, 71189373, 71189423, 71196795-71196810 |
317 | DNAI2 | 17 | 0.99449944994499 | 10 | 1818 | 72306195-72306204 |
318 | TSEN54 | 17 | 0.99557242251739 | 7 | 1581 | 73512696, 73512986-73512991 |
319 | ITGB4 | 17 | 0.99908575607972 | 5 | 5469 | 73732422, 73751784-73751787 |
320 | UNC13D | 17 | 0.997861289337 | 7 | 3273 | 73826659-73826661, 73835939-73835942 |
321 | SEPT9 | 17 | 0.92277115275412 | 136 | 1761 | 75494605-75494740 |
322 | GAA | 17 | 0.99720181881777 | 8 | 2859 | 78082593-78082600 |
323 | NDUFV2 | 18 | 0.99733333333333 | 2 | 750 | 9102756-9102757 |
324 | MC2R | 18 | 0.99217002237136 | 7 | 894 | 13884711-13884717 |
325 | NPC1 | 18 | 0.9981756580662 | 7 | 3837 | 21124929, 21124945-21124946, 21124949, 21152093-21152095 |
326 | LAMA3 | 18 | 0.99860027994401 | 14 | 10002 | 21269656-21269657, 21269660-21269665, 21269689-21269691, 21269696-21269698 |
327 | DSC3 | 18 | 0.99479747305834 | 14 | 2691 | 28574308-28574309, 28581619-28581620, 28581660, 28581688-28581689, 28581695, 28622594-28622599 |
328 | DSC2 | 18 | 0.99778270509978 | 6 | 2706 | 28659934-28659937, 28660125, 28669518 |
329 | DSG2 | 18 | 0.99970211498362 | 1 | 3357 | 29078248 |
330 | MYO5B | 18 | 0.99296917252569 | 39 | 5547 | 47352912-47352950 |
331 | SMAD4 | 18 | 0.9873417721519 | 21 | 1659 | 48593439, 48593510, 48593513, 48603058, 48603061, 48603069, 48603073-48603087 |
332 | TCF4 | 18 | 0.99950396825397 | 1 | 2016 | 52946807 |
333 | ATP8B1 | 18 | 0.99121405750799 | 33 | 3756 | 55315865-55315867, 55398940-55398969 |
334 | RAX | 18 | 0.99903938520653 | 1 | 1041 | 56936488 |
335 | LMAN1 | 18 | 0.98434442270059 | 24 | 1533 | 57000360, 57000448-57000457, 57000465-57000476, 57016427 |
336 | CCBE1 | 18 | 0.997542997543 | 3 | 1221 | 57134044, 57134049, 57134063 |
337 | TNFRSF11A | 18 | 0.98541329011345 | 27 | 1851 | 59992586-59992587, 59992595-59992598, 59992601-59992620, 60021663 |
338 | ELANE | 19 | 0.88557213930348 | 92 | 804 | 853262-853339, 853342, 853349-853357, 853382-853385 |
339 | KISS1R | 19 | 0.9047619047619 | 114 | 1197 | 918612-918614, 918618, 918631-918668, 920290-920296, 920303, 920313, 920320-920324, 920335-920337, 920354-920356, 920360-920365, 920373, 920376-920389, 920431, 920462-920468, 920607, 920642, 920660-920662, 920670, 920704-920709, 920728, 920733-920738, 920745-920748 |
340 | MAP2K2 | 19 | 0.92352452202826 | 92 | 1203 | 4123781-4123872 |
341 | TUBB4 | 19 | 0.98576779026217 | 19 | 1335 | 6495477-6495490, 6495589, 6495593, 6495601-6495602, 6495608 |
342 | C3 | 19 | 0.99559294871795 | 22 | 4992 | 6707109-6707111, 6707116, 6707119, 6707159, 6707173-6707174, 6707237, 6707279-6707282, 6709720-6709728 |
343 | INSR | 19 | 0.99662569293806 | 14 | 4149 | 7184535-7184538, 7293860-7293864, 7293871, 7293876-7293877, 7293881-7293882 |
344 | MCOLN1 | 19 | 0.99942627653471 | 1 | 1743 | 7598506 |
345 | PNPLA6 | 19 | 0.99497991967871 | 20 | 3984 | 7614800-7614810, 7615930, 7616248-7616255 |
346 | TYK2 | 19 | 0.99887766554433 | 4 | 3564 | 10463141, 10463752, 10464242, 10476356 |
347 | DNM2 | 19 | 0.99846919249904 | 4 | 2613 | 10941666-10941668, 10941671 |
348 | LDLR | 19 | 0.99961285327139 | 1 | 2583 | 11200281 |
349 | PRKCSH | 19 | 0.99621928166352 | 6 | 1587 | 11558341-11558346 |
350 | CACNA1A | 19 | 0.98457651907991 | 116 | 7521 | 13318642-13318716, 13318782, 13318790-13318794, 13318797, 13318803-13318807, 13318810-13318813, 13318836, 13318839, 13318850-13318855, 13318862-13318864, 13319692-13319697, 13370412-13370418, 13616943 |
351 | NOTCH3 | 19 | 0.98277347114556 | 120 | 6966 | 15272165, 15281318-15281364, 15311641-15311646, 15311651-15311716 |
352 | JAK3 | 19 | 0.98548148148148 | 49 | 3375 | 17940932-17940966, 17940985-17940991, 17945491-17945496, 17945499 |
353 | SLC5A5 | 19 | 0.99482401656315 | 10 | 1932 | 17984973-17984982 |
354 | COMP | 19 | 0.97317502198769 | 61 | 2274 | 18900754-18900813, 18901669 |
355 | CEBPA | 19 | 0.80779944289694 | 207 | 1077 | 33792517, 33792520, 33792570, 33792592-33792613, 33792754-33792757, 33792857-33792860, 33792866-33792874, 33792885-33792893, 33792896, 33792914, 33792925-33792927, 33792935, 33792939-33792940, 33792947, 33792951-33792952, 33792959, 33792973, 33792982-33792995, 33793004-33793041, 33793140-33793181, 33793195-33793200, 33793204, 33793211-33793233, 33793238, 33793243-33793245, 33793284-33793298 |
356 | SCN1B | 19 | 0.95043370508055 | 40 | 807 | 35521725-35521764 |
357 | MAG | 19 | 0.99893673577884 | 2 | 1881 | 35791056, 35791080 |
358 | PRODH2 | 19 | 0.99813780260708 | 3 | 1611 | 36303306-36303308 |
359 | NPHS1 | 19 | 0.99919484702093 | 3 | 3726 | 36337076-36337078 |
360 | SDHAF1 | 19 | 0.98850574712644 | 4 | 348 | 36486178-36486180, 36486191 |
361 | RYR1 | 19 | 0.98954819077859 | 158 | 15117 | 38976709-38976713, 38976770, 38976779, 38987506-38987508, 38998405, 38998415, 38998420-38998421, 39037104, 39037107, 39055673-39055681, 39055777-39055799, 39055802-39055803, 39055812-39055816, 39055822, 39055831, 39055837-39055847, 39055850-39055857, 39055869-39055893, 39055903-39055904, 39055907-39055911, 39055918, 39055944-39055982, 39056160-39056166, 39061282-39061283, 39078055 |
362 | ACTN4 | 19 | 0.99744152046784 | 7 | 2736 | 39138427-39138428, 39138542, 39205121, 39214859-39214861 |
363 | PRX | 19 | 0.97628818969448 | 104 | 4386 | 40901307-40901332, 40909613-40909641, 40909652-40909691, 40909707-40909708, 40909711, 40909719, 40909733-40909734, 40909758-40909760 |
364 | TGFB1 | 19 | 0.98806479113384 | 14 | 1173 | 41837052, 41837069-41837071, 41854291-41854295, 41854298, 41858919-41858921, 41858929 |
365 | BCKDHA | 19 | 0.99925261584454 | 1 | 1338 | 41930452 |
366 | ATP1A3 | 19 | 0.99700924415443 | 11 | 3678 | 42470788, 42470794, 42470966-42470968, 42470986, 42471000, 42471353, 42471357, 42480569, 42480672 |
367 | ETHE1 | 19 | 0.99869281045752 | 1 | 765 | 44012186 |
368 | BCAM | 19 | 0.97615262321145 | 45 | 1887 | 45312414-45312416, 45312419-45312424, 45312427, 45321861-45321867, 45324052-45324079 |
369 | SIX5 | 19 | 0.9990990990991 | 2 | 2220 | 46271799, 46271878 |
370 | DMPK | 19 | 0.97301587301587 | 51 | 1890 | 46274275, 46285451, 46285458, 46285523-46285525, 46285529-46285534, 46285545-46285563, 46285566-46285568, 46285582-46285583, 46285587-46285589, 46285592-46285603 |
371 | FKRP | 19 | 0.9502688172043 | 74 | 1488 | 47259130-47259132, 47259150, 47259154-47259162, 47259165, 47259440, 47259497-47259504, 47259614-47259647, 47259671-47259682, 47259731-47259733, 47260081, 47260084 |
372 | DBP | 19 | 0.96932515337423 | 30 | 978 | 49138837, 49138840-49138845, 49138852, 49138859-49138861, 49138864-49138865, 49139113-49139116, 49139120, 49139124-49139126, 49139130-49139138 |
373 | MED25 | 19 | 0.9982174688057 | 4 | 2244 | 50335413, 50339526, 50339529-50339530 |
374 | MYH14 | 19 | 0.99885452462772 | 7 | 6111 | 50770232-50770234, 50770240-50770242, 50780122 |
375 | KCNC3 | 19 | 0.75021987686895 | 568 | 2274 | 50823503-50823592, 50823596, 50826242-50826244, 50826263-50826269, 50826278-50826282, 50826310, 50826350-50826352, 50826357-50826358, 50826373, 50826405-50826413, 50826419, 50826422-50826428, 50826440-50826443, 50826450-50826461, 50826464, 50826468, 50826560-50826565, 50831484-50831486, 50831499-50831501, 50831507, 50831530-50831531, 50831548, 50831558-50831560, 50831567, 50831686-50831720, 50831798-50831842, 50831879-50831930, 50831944-50831982, 50831988, 50832015-50832042, 50832123, 50832141-50832339 |
376 | PRKCG | 19 | 0.97421203438395 | 54 | 2094 | 54392949, 54392954-54392957, 54392960, 54393140-54393141, 54393143-54393144, 54393167-54393170, 54393189-54393192, 54393214-54393221, 54393227-54393233, 54393242-54393253, 54410082-54410090 |
377 | PRPF31 | 19 | 0.998 | 3 | 1500 | 54634799-54634801 |
378 | NLRP7 | 19 | 0.99775208734746 | 7 | 3114 | 55451167-55451173 |
379 | TNNT1 | 19 | 0.9936628643853 | 5 | 789 | 55658063-55658065, 55658068, 55658075 |
380 | AURKC | 19 | 0.96559139784946 | 32 | 930 | 57743124-57743155 |
381 | KLF11 | 2 | 0.9766081871345 | 36 | 1539 | 10183850-10183885 |
382 | MYCN | 2 | 0.96272401433692 | 52 | 1395 | 16082544-16082577, 16082585-16082602 |
383 | APOB | 2 | 0.99868536371604 | 18 | 13692 | 21225311-21225312, 21227183-21227185, 21255244, 21255249, 21266755-21266756, 21266785-21266793 |
384 | POMC | 2 | 0.96641791044776 | 27 | 804 | 25384429-25384432, 25384441, 25384444-25384445, 25384454-25384473 |
385 | HADHB | 2 | 0.99789473684211 | 3 | 1425 | 26508294, 26508344, 26508372 |
386 | OTOF | 2 | 0.97564230897564 | 146 | 5994 | 26696890, 26697395-26697401, 26699759-26699887, 26699897-26699903, 26700129, 26705366 |
387 | ALK | 2 | 0.99568167797656 | 21 | 4863 | 29451754-29451767, 29451772, 29451781-29451784, 30143519, 30143522 |
388 | SPAST | 2 | 0.86601836844949 | 248 | 1851 | 32289020-32289025, 32289033-32289064, 32289079-32289257, 32289265-32289268, 32289307-32289312, 32340815, 32340822, 32340830-32340838, 32340852-32340854, 32340857, 32341201-32341204, 32341211, 32341215 |
389 | CYP1B1 | 2 | 0.99448529411765 | 9 | 1632 | 38302289-38302297 |
390 | SOS1 | 2 | 0.99675162418791 | 13 | 4002 | 39224394-39224398, 39224535, 39224538, 39224548, 39233646, 39241981-39241983, 39281926 |
391 | ABCG5 | 2 | 0.99028629856851 | 19 | 1956 | 44058975-44058977, 44058988-44058996, 44065699-44065705 |
392 | ABCG8 | 2 | 0.99950544015826 | 1 | 2022 | 44102368 |
393 | LRPPRC | 2 | 0.99545997610514 | 19 | 4185 | 44128492, 44161345, 44161352-44161355, 44201029, 44202332-44202343 |
394 | SIX3 | 2 | 0.995995995996 | 4 | 999 | 45169435-45169438 |
395 | MSH2 | 2 | 0.99857397504456 | 4 | 2805 | 47639613-47639614, 47639646-47639647 |
396 | MSH6 | 2 | 0.98995836394808 | 41 | 4083 | 48010378-48010379, 48010458-48010466, 48010471-48010481, 48010487-48010488, 48010508, 48010512, 48010532-48010538, 48010541-48010545, 48010551, 48010558, 48032757 |
397 | LHCGR | 2 | 0.99857142857143 | 3 | 2100 | 48982785-48982787 |
398 | FSHR | 2 | 0.99952107279693 | 1 | 2088 | 49189935 |
399 | NRXN1 | 2 | 0.99638418079096 | 16 | 4425 | 51255379-51255394 |
400 | EFEMP1 | 2 | 0.95951417004049 | 60 | 1482 | 56102081-56102090, 56102094, 56102106-56102154 |
401 | ATP6V1B1 | 2 | 0.99610894941634 | 6 | 1542 | 71163109, 71163128-71163131, 71163137 |
402 | MCEE | 2 | 0.98681732580038 | 7 | 531 | 71351597-71351603 |
403 | SPR | 2 | 0.99745547073791 | 2 | 786 | 73114784, 73114800 |
404 | ALMS1 | 2 | 0.99864043506078 | 17 | 12504 | 73613032-73613046, 73659341, 73659344 |
405 | DCTN1 | 2 | 0.99947875944748 | 2 | 3837 | 74590484, 74598106 |
406 | HTRA2 | 2 | 0.99419026870007 | 8 | 1377 | 74757252, 74757392-74757393, 74757525-74757529 |
407 | SUCLG1 | 2 | 0.99135446685879 | 9 | 1041 | 84668564-84668572 |
408 | GGCX | 2 | 0.99648660518226 | 8 | 2277 | 85782669-85782670, 85788522-85788524, 85788530-85788532 |
409 | REEP1 | 2 | 0.94719471947195 | 32 | 606 | 86564602-86564633 |
410 | EIF2AK3 | 2 | 0.99104744852283 | 30 | 3351 | 88887500-88887502, 88887565-88887578, 88887581, 88887584-88887586, 88926730-88926738 |
411 | TMEM127 | 2 | 0.98047419804742 | 14 | 717 | 96931089-96931090, 96931108-96931119 |
412 | ZAP70 | 2 | 0.9994623655914 | 1 | 1860 | 98355851 |
413 | RANBP2 | 2 | 0.91317829457364 | 840 | 9675 | 109345588-109345589, 109347874-109347913, 109352102, 109352185-109352191, 109352632-109352638, 109356965-109356975, 109357110-109357137, 109363178-109363203, 109365377-109365383, 109365423-109365467, 109367751-109367781, 109367841-109367847, 109368082-109368110, 109369543-109369561, 109369896-109369914, 109369929-109369965, 109370345-109370363, 109370386-109370401, 109371396-109371402, 109371495-109371512, 109371632-109371662, 109374869-109374872, 109374901-109374918, 109382700-109382706, 109382748-109382754, 109382787-109382793, 109382889-109382895, 109382937-109382946, 109383052-109383058, 109383084-109383113, 109383142-109383148, 109383203-109383210, 109383268-109383274, 109383295-109383321, 109383354-109383360, 109383600-109383641, 109383672-109383721, 109383768-109383798, 109383822-109383828, 109383885-109383910, 109383992-109384013, 109384164-109384170, 109384505-109384511, 109384542-109384567, 109384609-109384652, 109384746-109384752, 109397725-109397735 |
414 | NPHP1 | 2 | 0.98967551622419 | 21 | 2034 | 110917704, 110917713-110917723, 110917734-110917741, 110917744 |
415 | MERTK | 2 | 0.999 | 3 | 3000 | 112656314, 112656321, 112656372 |
416 | GLI2 | 2 | 0.98571728628439 | 68 | 4761 | 121728118-121728121, 121728133, 121746098, 121746112, 121746115, 121746137, 121746141-121746147, 121746157-121746164, 121746202-121746207, 121746221-121746224, 121746233-121746257, 121746361-121746368, 121747072 |
417 | BIN1 | 2 | 0.99775533108866 | 4 | 1782 | 127808407-127808410 |
418 | PROC | 2 | 0.99134199134199 | 12 | 1386 | 128180643, 128180649-128180656, 128180664, 128180690, 128180702 |
419 | CFC1 | 2 | 0.96130952380952 | 26 | 672 | 131279079, 131280381, 131280387-131280390, 131280809-131280828 |
420 | RAB3GAP1 | 2 | 0.98438560760353 | 46 | 2946 | 135848574-135848585, 135848627-135848659, 135891524 |
421 | LCT | 2 | 0.99930843706777 | 4 | 5784 | 136564740, 136575555-136575557 |
422 | MCM6 | 2 | 0.99878345498783 | 3 | 2466 | 136620316-136620318 |
423 | NEB | 2 | 0.99259036747772 | 148 | 19974 | 152384099, 152421657, 152432671, 152432675-152432676, 152432680-152432682, 152432713-152432741, 152432750-152432822, 152432829-152432839, 152432868, 152482114-152482131, 152511842-152511849 |
424 | SCN2A | 2 | 0.98753738783649 | 75 | 6018 | 166210918-166210930, 166211063-166211069, 166223756, 166223783, 166234107-166234151, 166237624-166237627, 166237633, 166237650, 166237653, 166237658 |
425 | SCN1A | 2 | 0.99983324995831 | 1 | 5997 | 166866251 |
426 | SCN9A | 2 | 0.99730367374452 | 16 | 5934 | 167060906, 167060922, 167060925, 167083191, 167083196, 167083206-167083214, 167133702, 167151165 |
427 | ABCB11 | 2 | 0.99873928391326 | 5 | 3966 | 169814522, 169836376-169836379 |
428 | HOXD13 | 2 | 0.99418604651163 | 6 | 1032 | 176957825-176957828, 176957831-176957832 |
429 | AGPS | 2 | 0.96256954982296 | 74 | 1977 | 178285032-178285033, 178285045-178285046, 178285058-178285060, 178333146, 178333155-178333166, 178333246, 178346833-178346868, 178346894, 178346903, 178362479-178362493 |
430 | TTN | 2 | 0.99941145958024 | 59 | 100248 | 179392337-179392339, 179392360, 179394770-179394771, 179394775, 179434048, 179446754-179446755, 179458712-179458719, 179459114-179459121, 179510700-179510703, 179510717-179510721, 179523795-179523802, 179540708, 179540713-179540714, 179540719-179540720, 179571316-179571318, 179650756-179650760, 179665141-179665143 |
431 | CERKL | 2 | 0.99499687304565 | 8 | 1599 | 182423383-182423387, 182438553, 182438559, 182468806 |
432 | NEUROD1 | 2 | 0.99906629318394 | 1 | 1071 | 182542831 |
433 | COL3A1 | 2 | 0.99068393546921 | 41 | 4401 | 189850448-189850455, 189850459-189850460, 189850465-189850468, 189854165, 189855752-189855762, 189856941-189856946, 189867754, 189871663-189871665, 189871672-189871674, 189871701-189871702 |
434 | COL5A2 | 2 | 0.99777777777778 | 10 | 4500 | 189909928-189909930, 189909944, 189909948, 189916913, 189928706-189928709 |
435 | SLC40A1 | 2 | 0.99941724941725 | 1 | 1716 | 190426704 |
436 | PMS1 | 2 | 0.9967845659164 | 9 | 2799 | 190718735, 190718794-190718796, 190718808, 190718992-190718995 |
437 | MSTN | 2 | 0.98049645390071 | 22 | 1128 | 190925083-190925104 |
438 | STAT1 | 2 | 0.99866844207723 | 3 | 2253 | 191859796, 191859819, 191859940 |
439 | HSPD1 | 2 | 0.99883855981417 | 2 | 1722 | 198353177-198353178 |
440 | ALS2 | 2 | 0.99919581825493 | 4 | 4974 | 202593791, 202626387-202626389 |
441 | BMPR2 | 2 | 0.99615014436959 | 12 | 3117 | 203384824, 203384828-203384829, 203384834-203384842 |
442 | FASTKD2 | 2 | 0.99531176746367 | 10 | 2133 | 207652760-207652767, 207652772, 207652775 |
443 | ABCA12 | 2 | 0.99743194658449 | 20 | 7788 | 215797420, 215809728-215809731, 215809750, 215809792, 215854136-215854137, 215854146-215854148, 215854156, 215854172-215854177, 215901702 |
444 | SMARCAL1 | 2 | 0.99650959860384 | 10 | 2865 | 217285089-217285098 |
445 | PNKD | 2 | 0.9853195164076 | 17 | 1158 | 219135292-219135305, 219204596-219204598 |
446 | CYP27A1 | 2 | 0.99812030075188 | 3 | 1596 | 219646964-219646966 |
447 | DES | 2 | 0.99363057324841 | 9 | 1413 | 220283612, 220283710-220283711, 220283736, 220285374-220285378 |
448 | OBSL1 | 2 | 0.98084695132666 | 109 | 5691 | 220435626, 220435647-220435651, 220435672-220435689, 220435732-220435806, 220435898-220435900, 220435909-220435911, 220435920, 220435923-220435925 |
449 | COL4A4 | 2 | 0.99901263823065 | 5 | 5064 | 227942705-227942707, 227973982, 227984625 |
450 | COL4A3 | 2 | 0.98743267504488 | 63 | 5013 | 228115885, 228162532-228162536, 228163411-228163423, 228163441-228163483, 228163502 |
451 | SLC19A3 | 2 | 0.99932930918846 | 1 | 1491 | 228563983 |
452 | SP110 | 2 | 0.99253034547152 | 16 | 2142 | 231081509-231081524 |
453 | CHRND | 2 | 0.99420849420849 | 9 | 1554 | 233390927, 233390930-233390935, 233390965, 233390968 |
454 | CHRNG | 2 | 0.9993564993565 | 1 | 1554 | 233405404 |
455 | UGT1A1 | 2 | 0.9956304619226 | 7 | 1602 | 234668950-234668954, 234668958-234668959 |
456 | COL6A3 | 2 | 0.9992657856094 | 7 | 9534 | 238296522-238296528 |
457 | D2HGDH | 2 | 0.99233716475096 | 12 | 1566 | 242707299, 242707317, 242707322-242707330, 242707373 |
458 | AVP | 20 | 0.8989898989899 | 50 | 495 | 3063320-3063333, 3063339-3063341, 3063375, 3063388, 3063411, 3063623-3063628, 3063638-3063647, 3063652-3063657, 3063726, 3063758-3063760, 3063763, 3063768-3063769, 3063775 |
459 | PANK2 | 20 | 0.99416228838295 | 10 | 1713 | 3870137, 3870244-3870248, 3870255, 3870267, 3870272, 3870276 |
460 | MKKS | 20 | 0.99824868651489 | 3 | 1713 | 10386053-10386055 |
461 | JAG1 | 20 | 0.99945310363686 | 2 | 3657 | 10620275, 10654173 |
462 | C20orf7 | 20 | 0.98362235067437 | 17 | 1038 | 13782190-13782193, 13782196-13782204, 13782211, 13782216-13782218 |
463 | SNTA1 | 20 | 0.97496706192358 | 38 | 1518 | 32031179, 32031202, 32031206, 32031212, 32031369-32031399, 32031409, 32031412-32031413 |
464 | GDF5 | 20 | 0.98804780876494 | 18 | 1506 | 34025110-34025116, 34025119-34025129 |
465 | DPM1 | 20 | 0.97445721583653 | 20 | 783 | 49551681-49551682, 49551699-49551700, 49551710-49551717, 49557460, 49562274-49562280 |
466 | COL9A3 | 20 | 0.99318734793187 | 14 | 2055 | 61448443-61448448, 61456357-61456361, 61456364, 61456372-61456373 |
467 | CHRNA4 | 20 | 0.9984076433121 | 3 | 1884 | 61992495, 61992499, 61992503 |
468 | KCNQ2 | 20 | 0.99847269950363 | 4 | 2619 | 62073779, 62103707, 62103721, 62103730 |
469 | SOX18 | 20 | 0.68571428571429 | 363 | 1155 | 62680096-62680097, 62680253-62680255, 62680512-62680869 |
470 | SOD1 | 21 | 0.99139784946237 | 4 | 465 | 33039685-33039688 |
471 | IFNGR2 | 21 | 0.93293885601578 | 68 | 1014 | 34775850-34775860, 34775866-34775922 |
472 | RUNX1 | 21 | 0.99237699237699 | 11 | 1443 | 36164451-36164454, 36164600, 36164609-36164611, 36259284-36259286 |
473 | CLDN14 | 21 | 0.96111111111111 | 28 | 720 | 37833812-37833839 |
474 | HLCS | 21 | 0.99908298945438 | 2 | 2181 | 38309515-38309516 |
475 | AIRE | 21 | 0.995115995116 | 8 | 1638 | 45712927, 45712977, 45713016-45713020, 45713058 |
476 | ITGB2 | 21 | 0.97402597402597 | 60 | 2310 | 46308636-46308643, 46308651-46308682, 46308689-46308692, 46308695-46308699, 46308702-46308704, 46308720-46308727 |
477 | COL18A1 | 21 | 0.99430199430199 | 30 | 5265 | 46876562, 46888489, 46923944, 46924411-46924437 |
478 | COL6A1 | 21 | 0.98283122772919 | 53 | 3087 | 47401780-47401818, 47410174-47410175, 47410184, 47410309-47410315, 47410329-47410332 |
479 | COL6A2 | 21 | 0.98823529411765 | 36 | 3060 | 47552002-47552037 |
480 | FTCD | 21 | 0.99446494464945 | 9 | 1626 | 47565741, 47565754-47565755, 47565762, 47565765-47565768, 47565796 |
481 | PCNT | 21 | 0.98981120767156 | 102 | 10011 | 47744151-47744152, 47754446-47754466, 47754495-47754544, 47754560-47754579, 47754611-47754617, 47831467, 47858095 |
482 | PEX26 | 22 | 0.99782135076253 | 2 | 918 | 18561232-18561233 |
483 | PRODH | 22 | 0.99556295063783 | 8 | 1803 | 18908918, 18908932-18908936, 18923745, 18923749 |
484 | GP1BB | 22 | 0.97262479871176 | 17 | 621 | 19711713-19711717, 19711722-19711728, 19711734, 19711741, 19711746, 19711780, 19711837 |
485 | TBX1 | 22 | 0.81922043010753 | 269 | 1488 | 19748428-19748602, 19748661, 19748664, 19753459-19753506, 19753513-19753525, 19753921-19753923, 19753945, 19753948-19753956, 19753961, 19753964-19753974, 19754047-19754048, 19754058-19754061 |
486 | HPS4 | 22 | 0.99952651515152 | 1 | 2112 | 26866719 |
487 | CHEK2 | 22 | 0.89437819420784 | 186 | 1761 | 29083906-29083917, 29083931-29083965, 29085135-29085171, 29090086-29090092, 29091139-29091160, 29091173-29091203, 29091737-29091743, 29091837-29091844, 29126428-29126429, 29126434-29126442, 29126445-29126448, 29130676-29130687 |
488 | TCN2 | 22 | 0.99766355140187 | 3 | 1284 | 31019053-31019055 |
489 | TRIOBP | 22 | 0.98196675119752 | 128 | 7098 | 38119856-38119862, 38119879-38119921, 38120038-38120068, 38120394-38120440 |
490 | SOX10 | 22 | 0.98144182726624 | 26 | 1401 | 38369933-38369950, 38369960-38369967 |
491 | EP300 | 22 | 0.99779158040028 | 16 | 7245 | 41546051-41546054, 41546107-41546108, 41546127-41546130, 41574177, 41574194-41574197, 41574201 |
492 | TNFRSF13C | 22 | 0.90810810810811 | 51 | 555 | 42322124, 42322248-42322253, 42322256-42322260, 42322271-42322278, 42322295, 42322298-42322320, 42322323-42322329 |
493 | CYB5R3 | 22 | 0.99337748344371 | 6 | 906 | 43045316-43045321 |
494 | ALG12 | 22 | 0.99659168370825 | 5 | 1467 | 50297991, 50307386-50307389 |
495 | MLC1 | 22 | 0.99470899470899 | 6 | 1134 | 50502583, 50502593-50502595, 50502601, 50502610 |
496 | TYMP | 22 | 0.93581780538302 | 93 | 1449 | 50964260, 50964284-50964313, 50964463-50964523, 50964845 |
497 | ARSA | 22 | 0.99146981627297 | 13 | 1524 | 51063657, 51063716, 51063724, 51063731, 51063748, 51063809, 51063820, 51063825-51063827, 51063846, 51063873, 51063890 |
498 | SHANK3 | 22 | 0.83657513348589 | 857 | 5244 | 51113070-51113132, 51135957-51136143, 51158726-51159043, 51159058-51159066, 51159070, 51159073-51159074, 51159098-51159107, 51159112-51159120, 51159144-51159149, 51159152, 51159157-51159177, 51159188-51159195, 51159236, 51169204-51169210, 51169215, 51169218, 51169262-51169278, 51169437-51169442, 51169446, 51169472, 51169491-51169593, 51169603-51169609, 51169612-51169644, 51169662-51169675, 51169679-51169686, 51169714-51169735 |
499 | SUMF1 | 3 | 0.99733333333333 | 3 | 1125 | 4458817-4458818, 4458893 |
500 | FANCD2 | 3 | 0.98867753623188 | 50 | 4416 | 10088296-10088311, 10088340-10088346, 10091150-10091156, 10107165-10107171, 10114937-10114949 |
501 | RAF1 | 3 | 0.99640472521828 | 7 | 1947 | 12660113-12660119 |
502 | XPC | 3 | 0.99964576691463 | 1 | 2823 | 14214470 |
503 | COLQ | 3 | 0.99853801169591 | 2 | 1368 | 15563113, 15563119 |
504 | BTD | 3 | 0.98713235294118 | 21 | 1632 | 15686585-15686605 |
505 | GLB1 | 3 | 0.9960668633235 | 8 | 2034 | 33138504-33138507, 33138512-33138515 |
506 | CRTAP | 3 | 0.98341625207297 | 20 | 1206 | 33155586-33155604, 33155914 |
507 | MLH1 | 3 | 0.99779832672831 | 5 | 2271 | 37067200, 37067312, 37090487-37090489 |
508 | SCN5A | 3 | 0.99796230259806 | 12 | 5889 | 38645426-38645429, 38645433-38645440 |
509 | TMIE | 3 | 0.99363057324841 | 3 | 471 | 46751074-46751076 |
510 | TREX1 | 3 | 0.9972972972973 | 3 | 1110 | 48508078-48508079, 48508082 |
511 | COL7A1 | 3 | 0.99909451046972 | 8 | 8835 | 48627123, 48627130-48627131, 48627134-48627138 |
512 | RFT1 | 3 | 0.95756457564576 | 69 | 1626 | 53156425-53156432, 53156455-53156463, 53156515-53156533, 53156543-53156575 |
513 | HESX1 | 3 | 0.9336917562724 | 37 | 558 | 57232246-57232272, 57232304, 57232515-57232520, 57233944-57233946 |
514 | FLNB | 3 | 0.99743885260597 | 20 | 7809 | 57994463, 58062886-58062889, 58089784-58089798 |
515 | ATXN7 | 3 | 0.88548273431994 | 325 | 2838 | 63898275-63898599 |
516 | MITF | 3 | 0.99936020473448 | 1 | 1563 | 69928419 |
517 | ROBO2 | 3 | 0.9997582789461 | 1 | 4137 | 77530370 |
518 | GBE1 | 3 | 0.94357515410147 | 119 | 2109 | 81754595-81754598, 81754601-81754602, 81754613-81754637, 81754640-81754663, 81754669, 81754686-81754691, 81754701-81754757 |
519 | PROS1 | 3 | 0.97932053175775 | 42 | 2031 | 93595910, 93595917, 93595920, 93595953-93595954, 93595959, 93595962-93595973, 93595984-93595996, 93595999-93596000, 93596004-93596009, 93596018-93596020 |
520 | ARL13B | 3 | 0.98912198912199 | 14 | 1287 | 93762068, 93762078, 93768266, 93768270, 93768289-93768292, 93768360-93768365 |
521 | ARL6 | 3 | 0.92335115864528 | 43 | 561 | 97503799-97503839, 97503877, 97503890 |
522 | CPOX | 3 | 0.9985347985348 | 2 | 1365 | 98307585, 98312245 |
523 | HGD | 3 | 0.99701046337818 | 4 | 1338 | 120389293, 120389299, 120389316-120389317 |
524 | IQCB1 | 3 | 0.99387868670006 | 11 | 1797 | 121516054-121516061, 121547759-121547760, 121547807 |
525 | CASR | 3 | 0.99413036762434 | 19 | 3237 | 122003526-122003544 |
526 | ACAD9 | 3 | 0.9994640943194 | 1 | 1866 | 128628992 |
527 | GP9 | 3 | 0.9250936329588 | 40 | 534 | 128781016-128781019, 128781024-128781059 |
528 | NPHP3 | 3 | 0.95617330328074 | 175 | 3993 | 132409402, 132409405, 132411601-132411603, 132424655, 132438549-132438674, 132441051, 132441054, 132441058, 132441061-132441064, 132441071-132441098, 132441105-132441111, 132441173 |
529 | PCCB | 3 | 0.99938271604938 | 1 | 1620 | 136002733 |
530 | FOXL2 | 3 | 0.97789566755084 | 25 | 1131 | 138664661, 138664753-138664756, 138664802, 138664805, 138664820, 138664869-138664873, 138664891-138664900, 138665028, 138665045 |
531 | PLOD2 | 3 | 0.9433465085639 | 129 | 2277 | 145791102, 145802975-145802978, 145802988-145802990, 145804575-145804583, 145804602-145804651, 145804672-145804695, 145822086-145822095, 145828119-145828146 |
532 | HPS3 | 3 | 0.99635157545605 | 11 | 3015 | 148880627-148880637 |
533 | GFM1 | 3 | 0.99778368794326 | 5 | 2256 | 158380448-158380450, 158380454, 158399868 |
534 | IFT80 | 3 | 0.99226804123711 | 18 | 2328 | 159997137-159997138, 159997143-159997146, 160018694-160018695, 160018711-160018714, 160075316, 160075328, 160083831-160083834 |
535 | PDCD10 | 3 | 0.981220657277 | 12 | 639 | 167405022, 167405039, 167405046-167405055 |
536 | SLC2A2 | 3 | 0.99809523809524 | 3 | 1575 | 170716887-170716889 |
537 | SOX2 | 3 | 0.99475890985325 | 5 | 954 | 181430189, 181430231, 181430234, 181431064, 181431091 |
538 | MCCC1 | 3 | 0.99494949494949 | 11 | 2178 | 182756850-182756857, 182759380-182759382 |
539 | CLDN16 | 3 | 0.99891067538126 | 1 | 918 | 190106128 |
540 | OPA1 | 3 | 0.98359580052493 | 50 | 3048 | 193354984-193355004, 193355038-193355063, 193355069-193355070, 193363343 |
541 | PDE6B | 4 | 0.99571150097466 | 11 | 2565 | 652743-652746, 652757-652761, 652764-652765 |
542 | IDUA | 4 | 0.95616717635066 | 86 | 1962 | 980971, 980977-980979, 980985, 981649, 996258, 996262-996265, 996597-996649, 996942, 997137, 997143-997149, 997156-997166, 997174-997175 |
543 | FGFR3 | 4 | 0.99423156159868 | 14 | 2427 | 1801030-1801036, 1803355, 1806650-1806651, 1806656-1806657, 1806665, 1808649 |
544 | SH3BP2 | 4 | 0.99461497038234 | 10 | 1857 | 2819995, 2820018, 2820031, 2820037, 2820050, 2820064, 2835480-2835483 |
545 | HTT | 4 | 0.98568246897868 | 135 | 9429 | 3076600-3076603, 3076604-3076699, 3076778-3076785, 3076801, 3129073-3129078, 3215749-3215754, 3234897-3234909, 3240627 |
546 | DOK7 | 4 | 0.96039603960396 | 60 | 1515 | 3465135-3465139, 3465233-3465239, 3465246-3465278, 3494855-3494864, 3494869-3494873 |
547 | DOK7 | 4 | 0.9746192893401 | 15 | 591 | 3494855-3494864, 3494869-3494873 |
548 | EVC2 | 4 | 0.99974535268653 | 1 | 3927 | 5578130 |
549 | EVC | 4 | 0.98623699227929 | 41 | 2979 | 5713111-5713130, 5713159, 5713218-5713223, 5713242-5713251, 5806563-5806566 |
550 | SLC2A9 | 4 | 0.99876771410967 | 2 | 1623 | 9982294-9982295 |
551 | CC2D2A | 4 | 0.99958873123586 | 2 | 4863 | 15569056, 15569059 |
552 | PROM1 | 4 | 0.99884526558891 | 3 | 2598 | 16040596, 16040604, 16040607 |
553 | CNGA1 | 4 | 0.96622807017544 | 77 | 2280 | 47954600-47954640, 47954687-47954693, 47972940, 47972950, 47972975-47972983, 47973005, 47973067-47973082, 47973110 |
554 | SGCB | 4 | 0.95402298850575 | 44 | 957 | 52895874-52895909, 52895943-52895949, 52904405 |
555 | KIT | 4 | 0.99965881951552 | 1 | 2931 | 55599323 |
556 | SLC4A4 | 4 | 0.9869101978691 | 43 | 3285 | 72352665-72352667, 72352696-72352735 |
557 | ALB | 4 | 0.99781420765027 | 4 | 1830 | 74272404-74272407 |
558 | CDS1 | 4 | 0.98124098124098 | 26 | 1386 | 85560077-85560091, 85569772-85569782 |
559 | PKD2 | 4 | 0.98727210182319 | 37 | 2907 | 88928941-88928946, 88928949-88928953, 88928968, 88928970, 88928998-88929007, 88929010-88929011, 88929014-88929019, 88929077, 88973202, 88983117-88983120 |
560 | SNCA | 4 | 0.90307328605201 | 41 | 423 | 90743502-90743505, 90749300-90749315, 90749318-90749331, 90749333, 90756701-90756702, 90756705-90756708 |
561 | MTTP | 4 | 0.99925512104283 | 2 | 2685 | 100521828, 100529947 |
562 | MANBA | 4 | 0.98901515151515 | 29 | 2640 | 103592448-103592451, 103611799-103611816, 103611819, 103611823, 103611826-103611830 |
563 | CISD2 | 4 | 0.92647058823529 | 30 | 408 | 103808512-103808522, 103808569-103808587 |
564 | CFI | 4 | 0.98458904109589 | 27 | 1752 | 110723073-110723077, 110723087-110723107, 110723116 |
565 | GAR1 | 4 | 0.9954128440367 | 3 | 654 | 110745185-110745187 |
566 | ANK2 | 4 | 0.99924204143507 | 9 | 11874 | 114161642-114161643, 114161650, 114161653-114161657, 114161695 |
567 | BBS7 | 4 | 0.94972067039106 | 108 | 2148 | 122749817, 122754488-122754494, 122756411, 122756415, 122765151-122765152, 122766660-122766665, 122766674-122766675, 122766700-122766701, 122766704-122766705, 122766716, 122766818, 122770013, 122775860-122775861, 122775872-122775899, 122775912, 122775938-122775956, 122775966-122775972, 122782735, 122782744-122782756, 122782759-122782763, 122782814-122782817, 122782820 |
568 | MFSD8 | 4 | 0.99421965317919 | 9 | 1557 | 128851896, 128851955-128851956, 128859954-128859955, 128859968-128859971 |
569 | NR3C2 | 4 | 0.99560067681895 | 13 | 2955 | 149075980-149075985, 149075993-149075999 |
570 | FGB | 4 | 0.99932249322493 | 1 | 1476 | 155484266 |
571 | FGA | 4 | 0.99615532487505 | 10 | 2601 | 155507674-155507680, 155507950-155507952 |
572 | LRAT | 4 | 0.98845598845599 | 8 | 693 | 155670242-155670249 |
573 | CTSO | 4 | 0.95859213250518 | 40 | 966 | 156863568-156863607 |
574 | GLRB | 4 | 0.96117804551539 | 58 | 1494 | 158041708, 158041716-158041723, 158041729-158041730, 158041734-158041739, 158041753-158041757, 158041761-158041770, 158043539-158043544, 158060000, 158091619-158091636, 158091878 |
575 | ETFDH | 4 | 0.99838187702265 | 3 | 1854 | 159616651, 159618711-159618712 |
576 | GK | 4 | 0.95246690734055 | 79 | 1662 | 166199162-166199168, 166199237, 166199358-166199364, 166199423-166199432, 166199558-166199569, 166199584-166199610, 166200063, 166200447-166200453, 166200741-166200747 |
577 | SDHA | 5 | 0.95137844611529 | 97 | 1995 | 218486-218518, 223682-223683, 224475, 228319-228325, 236650-236682, 236693-236699, 256469-256475, 256511-256517 |
578 | TERT | 5 | 0.97705207413945 | 78 | 3399 | 1293646, 1294682, 1294686-1294687, 1294690-1294696, 1294700, 1294704, 1294712-1294713, 1294719-1294724, 1294914-1294935, 1295060-1295061, 1295072-1295104 |
579 | SDHA | 5 | 0.99388379204893 | 2 | 327 | 1593246, 1593266 |
580 | DNAH5 | 5 | 0.9901981981982 | 136 | 13875 | 13727653-13727664, 13766105-13766106, 13788998-13789001, 13792165, 13810319, 13862721-13862747, 13901477, 13916457-13916530, 13916559-13916563, 13919307-13919315 |
581 | FAM134B | 5 | 0.97121820615797 | 43 | 1494 | 16616835-16616874, 16616887, 16616896, 16616899 |
582 | AMACR | 5 | 0.99912967798085 | 1 | 1149 | 34007928 |
583 | NIPBL | 5 | 0.96339869281046 | 308 | 8415 | 36962235, 36962238-36962239, 36995756, 36995796, 36995884-36995892, 37014854-37014855, 37024704-37024705, 37024803-37024810, 37036481-37036589, 37044491-37044535, 37048604-37048692, 37048720-37048733, 37048753-37048777 |
584 | LIFR | 5 | 0.99028536733455 | 32 | 3294 | 38482706, 38482720-38482741, 38482751, 38482763-38482766, 38482768-38482769, 38490330, 38506007 |
585 | OXCT1 | 5 | 0.94625719769674 | 84 | 1563 | 41862744-41862777, 41862786-41862835 |
586 | GHR | 5 | 0.99947835159103 | 1 | 1917 | 42718969 |
587 | ITGA2 | 5 | 0.99520586576424 | 17 | 3546 | 52344545-52344558, 52347337, 52351849, 52374619 |
588 | NDUFS4 | 5 | 0.99810606060606 | 1 | 528 | 52899289 |
589 | ERCC8 | 5 | 0.98908480268682 | 13 | 1191 | 60199519-60199523, 60199532-60199534, 60199543, 60200654-60200655, 60200665, 60217902 |
590 | NDUFAF2 | 5 | 0.9 | 51 | 510 | 60394826, 60394838, 60394844-60394845, 60448584-60448591, 60448604-60448642 |
591 | SMN2 | 5 | 0.96271186440678 | 33 | 885 | 69359242-69359247, 69361860-69361883, 69362949, 69366567, 69372353 |
592 | SMN2 | 5 | 0.9638418079096 | 32 | 885 | 70234666-70234671, 70237284-70237307, 70238373, 70241992 |
593 | AP3B1 | 5 | 0.96712328767123 | 108 | 3285 | 77311234-77311261, 77311284-77311290, 77311372, 77411950-77411953, 77411963, 77411968-77411974, 77412053-77412056, 77461490, 77536759-77536760, 77563344-77563357, 77563381-77563419 |
594 | VCAN | 5 | 0.99960749681091 | 4 | 10191 | 82834323-82834326 |
595 | RASA1 | 5 | 0.94083969465649 | 186 | 3144 | 86628324-86628333, 86637107-86637112, 86637120-86637124, 86642524-86642529, 86669980-86670137, 86674336 |
596 | MEF2C | 5 | 0.98945147679325 | 15 | 1422 | 88024370-88024375, 88024382-88024383, 88024386, 88024391, 88024397-88024400, 88044906 |
597 | GPR98 | 5 | 0.99487342106654 | 97 | 18921 | 89914956, 89914971-89914974, 89914984-89914985, 89924414, 89925092, 89925153, 89941812-89941836, 89941847-89941850, 89949267, 89971941, 89979674-89979676, 89979681-89979684, 89979687-89979690, 89985700-89985703, 89989954-89989960, 90016012, 90020734, 90020798, 90086739, 90098616, 90144490, 90144521-90144527, 90144531-90144533, 90144548-90144550, 90144554, 90144559-90144561, 90144578-90144583, 90144606, 90459675-90459678 |
598 | WDR36 | 5 | 0.98109243697479 | 54 | 2856 | 110436308, 110436312, 110436317-110436324, 110436335-110436341, 110436344-110436345, 110436369-110436400, 110441773, 110459812-110459813 |
599 | APC | 5 | 0.99753867791842 | 21 | 8532 | 112102951-112102967, 112128173, 112128179, 112128184, 112128187 |
600 | HSD17B4 | 5 | 0.98552691090005 | 32 | 2211 | 118809604, 118809607, 118814559, 118824902, 118835079, 118835107-118835109, 118835137, 118835181-118835203 |
601 | ALDH7A1 | 5 | 0.99382716049383 | 10 | 1620 | 125894937, 125904038-125904041, 125904044-125904048 |
602 | LMNB1 | 5 | 0.99488926746167 | 9 | 1761 | 126113464, 126113468, 126113475, 126113478-126113481, 126113484, 126141317 |
603 | FBN2 | 5 | 0.99702483121639 | 26 | 8739 | 127645000, 127645078, 127702070-127702085, 127702100-127702105, 127702118-127702119 |
604 | MYOT | 5 | 0.96927187708751 | 46 | 1497 | 137221794-137221817, 137221851, 137221865-137221870, 137221879-137221883, 137221892-137221897, 137222642, 137222685, 137222940, 137222973 |
605 | MATR3 | 5 | 0.99764150943396 | 6 | 2544 | 138658506-138658507, 138658537-138658539, 138658594 |
606 | DIAPH1 | 5 | 0.98586017282011 | 54 | 3819 | 140953309, 140953387-140953388, 140953393-140953394, 140953397, 140953400-140953403, 140953406-140953410, 140953469, 140953487-140953488, 140953524-140953535, 140953548-140953550, 140953564-140953575, 140953660-140953661, 140953766-140953771, 140953774 |
607 | PPP2R2B | 5 | 0.96171171171171 | 51 | 1332 | 146077647-146077677, 146077688-146077707 |
608 | SPINK5 | 5 | 0.99878234398782 | 4 | 3285 | 147470779-147470782 |
609 | ADRB2 | 5 | 0.9951690821256 | 6 | 1242 | 148207626-148207629, 148207632-148207633 |
610 | TCOF1 | 5 | 0.99954086317723 | 2 | 4356 | 149755645-149755646 |
611 | GABRG2 | 5 | 0.99741602067183 | 4 | 1548 | 161522514-161522517 |
612 | MSX2 | 5 | 0.95273631840796 | 38 | 804 | 174151804-174151806, 174151851-174151885 |
613 | GRM6 | 5 | 0.98139711465452 | 49 | 2634 | 178421661-178421681, 178421856, 178421908, 178421911-178421918, 178421928-178421945 |
614 | SQSTM1 | 5 | 0.99546485260771 | 6 | 1323 | 179248006, 179248046-179248047, 179248056-179248058 |
615 | FLT4 | 5 | 0.99853372434018 | 6 | 4092 | 180076527-180076532 |
616 | FOXC1 | 6 | 0.92358604091456 | 127 | 1662 | 1610757-1610759, 1610766-1610768, 1610772-1610773, 1610859-1610863, 1610869-1610870, 1610873-1610875, 1611191-1611194, 1611410, 1611551, 1611643-1611651, 1611658-1611664, 1611689, 1611705, 1611721-1611722, 1611795-1611825, 1611918, 1611942, 1612014-1612060, 1612142-1612144 |
617 | TUBB2B | 6 | 0.97159940209268 | 38 | 1338 | 3225207, 3225211, 3225391-3225419, 3225602-3225608 |
618 | DSP | 6 | 0.99907149489322 | 8 | 8616 | 7575592-7575599 |
619 | DTNBP1 | 6 | 0.99810606060606 | 2 | 1056 | 15663086-15663087 |
620 | ATXN1 | 6 | 0.97589869281046 | 59 | 2448 | 16327433, 16327861-16327867, 16327870, 16327873, 16327876, 16327879, 16327882, 16327887-16327906, 16327909, 16327912, 16327915-16327928, 16327931, 16327944-16327952 |
621 | ALDH5A1 | 6 | 0.99939283545841 | 1 | 1647 | 24515404 |
622 | HLA-H | 6 | 0.884 | 87 | 750 | 29855845-29855869, 29856311-29856314, 29856318, 29856330, 29856347, 29856353, 29856368, 29856402, 29856424, 29856427, 29856516, 29856531-29856536, 29856546, 29856550, 29856583-29856614, 29856679, 29856686, 29856693, 29856711, 29856718-29856722 |
623 | TNXB | 6 | 0.94608605495075 | 104 | 1929 | 31976896-31976929, 31977376-31977394, 31977835-31977841, 31978498-31978518, 31978782-31978789, 31979461, 31979521-31979527, 31980130-31980136 |
624 | CYP21A2 | 6 | 0.99865591397849 | 2 | 1488 | 32006337, 32007849 |
625 | TNXB | 6 | 0.99206536255794 | 101 | 12729 | 32009631-32009664, 32010111-32010129, 32010569-32010575, 32011235, 32011248, 32011641-32011647, 32012313-32012315, 32012378, 32012965-32012990, 32036483-32036484 |
626 | HLA-DQA1 | 6 | 0.76822916666667 | 178 | 768 | 32605271, 32605294-32605300, 32609097, 32609105-32609106, 32609144-32609150, 32609169, 32609173, 32609181, 32609192, 32609212-32609233, 32609236-32609241, 32609277-32609279, 32609297-32609299, 32609786-32609788, 32609801, 32609806, 32609812-32609813, 32609873, 32609949-32609977, 32610008-32610009, 32610387-32610406, 32610433-32610469, 32610475-32610498, 32610534-32610535 |
627 | HLA-DQB1 | 6 | 0.51145038167939 | 384 | 786 | 32629124-32629173, 32629193-32629194, 32629199, 32629223-32629234, 32629780-32629802, 32629811-32629812, 32629819-32629834, 32629840-32629847, 32629955, 32632575-32632799, 32632815-32632844, 32634299-32634302, 32634305-32634306, 32634313, 32634316-32634318, 32634331, 32634341, 32634350, 32634373 |
628 | COL11A2 | 6 | 0.99692957205911 | 16 | 5211 | 33140129-33140130, 33140134-33140135, 33140142-33140148, 33140350, 33140354, 33140368-33140370 |
629 | SYNGAP1 | 6 | 0.93377976190476 | 267 | 4032 | 33388042-33388108, 33393587, 33393607, 33393620-33393631, 33393633, 33393643, 33393652-33393659, 33393673, 33411314, 33411350-33411353, 33411470, 33411482, 33411488-33411521, 33411541-33411662, 33411669, 33411671-33411677, 33411684, 33411689-33411691 |
630 | FANCE | 6 | 0.99441340782123 | 9 | 1611 | 35420556-35420564 |
631 | MOCS1 | 6 | 0.99424385138671 | 11 | 1911 | 39874701-39874707, 39881079-39881082 |
632 | PEX6 | 6 | 0.99898063200815 | 3 | 2943 | 42946468, 42946487, 42946657 |
633 | CUL7 | 6 | 0.99980380616049 | 1 | 5097 | 43011360 |
634 | RUNX2 | 6 | 0.97765006385696 | 35 | 1566 | 45390355, 45390415-45390426, 45390440, 45390443-45390444, 45390450-45390455, 45390466, 45390469, 45390477, 45390480-45390489 |
635 | MUT | 6 | 0.95517088326676 | 101 | 2253 | 49409553-49409571, 49409594-49409632, 49409660, 49409664-49409665, 49409676, 49419327-49419347, 49421343-49421345, 49421433-49421438, 49421444-49421449, 49421462-49421463, 49423850 |
636 | PKHD1 | 6 | 0.99885480572597 | 14 | 12225 | 51720735-51720745, 51768440, 51909804-51909805 |
637 | EYS | 6 | 0.98166401695813 | 173 | 9435 | 64940565-64940572, 64940575-64940577, 65098706, 65098709, 65098716-65098722, 65523297-65523348, 65523362, 65523375-65523411, 65596639-65596642, 65596652-65596658, 65596689, 66005817, 66005877-66005879, 66005888, 66005915, 66063481-66063486, 66063501-66063502, 66094288-66094323, 66204709 |
638 | LMBRD1 | 6 | 0.95933456561922 | 66 | 1623 | 70410720-70410743, 70462151-70462159, 70462170-70462186, 70462233-70462248 |
639 | COL9A1 | 6 | 0.99457700650759 | 15 | 2766 | 70964212, 70966508-70966513, 70981368, 71004002-71004008 |
640 | RIMS1 | 6 | 0.99409332545777 | 30 | 5079 | 72678748, 72889287, 72892080, 72892355-72892358, 72892361, 72945347-72945354, 72960133-72960136, 72974698, 72974710, 72974716, 73108711, 73108776-73108777, 73108793-73108796 |
641 | MYO6 | 6 | 0.99896319336444 | 4 | 3858 | 76599854-76599857 |
642 | LCA5 | 6 | 0.99426934097421 | 12 | 2094 | 80196732-80196738, 80196781, 80196832-80196834, 80196843 |
643 | BCKDHB | 6 | 0.93638676844784 | 75 | 1179 | 80881019-80881029, 80881039-80881089, 81053447-81053459 |
644 | SLC35A1 | 6 | 0.9861932938856 | 14 | 1014 | 88182726-88182730, 88218138-88218146 |
645 | RARS2 | 6 | 0.99884858952216 | 2 | 1737 | 88228595, 88231233 |
646 | NDUFAF4 | 6 | 0.92045454545455 | 42 | 528 | 97338980-97339002, 97339048-97339051, 97339054-97339060, 97339084-97339091 |
647 | PDSS2 | 6 | 0.99583333333333 | 5 | 1200 | 107780274, 107780279-107780282 |
648 | SEC63 | 6 | 0.99737187910644 | 6 | 2283 | 108204330-108204334, 108204337 |
649 | OSTM1 | 6 | 0.99900497512438 | 1 | 1005 | 108375791 |
650 | FIG4 | 6 | 0.99779735682819 | 6 | 2724 | 110053840-110053841, 110081478-110081481 |
651 | WISP3 | 6 | 0.99463806970509 | 6 | 1119 | 112389581-112389586 |
652 | RSPH4A | 6 | 0.99395629939563 | 13 | 2151 | 116937922-116937934 |
653 | LAMA2 | 6 | 0.99871835950016 | 12 | 9363 | 129380939, 129475752, 129513952-129513960, 129573275 |
654 | ARG1 | 6 | 0.99793601651187 | 2 | 969 | 131903801-131903802 |
655 | ENPP1 | 6 | 0.98956083513319 | 29 | 2778 | 132129211-132129213, 132129224, 132171184, 132171187-132171190, 132203487, 132203499, 132203554-132203569, 132203578-132203579 |
656 | EYA4 | 6 | 0.99375 | 12 | 1920 | 133767863, 133769285-133769287, 133769296-133769301, 133777758, 133783580 |
657 | AHI1 | 6 | 0.99303815093289 | 25 | 3591 | 135732503-135732514, 135759513-135759515, 135759553-135759556, 135759561-135759565, 135763851 |
658 | PEX7 | 6 | 0.96399176954733 | 35 | 972 | 137167218-137167220, 137167226-137167237, 137167247-137167256, 137167270-137167272, 137167283-137167288, 137167295 |
659 | PEX3 | 6 | 0.99554367201426 | 5 | 1122 | 143792100, 143792106, 143792124, 143792214, 143792532 |
660 | STX11 | 6 | 0.99652777777778 | 3 | 864 | 144507999-144508001 |
661 | EPM2A | 6 | 0.99899598393574 | 1 | 996 | 146056576 |
662 | IYD | 6 | 0.99885057471264 | 1 | 870 | 150719241 |
663 | SYNE1 | 6 | 0.99746154429037 | 67 | 26394 | 152542679, 152545777, 152545791-152545793, 152555012-152555025, 152590293-152590296, 152630966, 152630982, 152630987, 152642402-152642404, 152642922-152642929, 152679646, 152680519, 152685992-152686002, 152716679-152716682, 152716688-152716689, 152737829-152737835, 152819883-152819885, 152819891 |
664 | PARK2 | 6 | 0.97496423462089 | 35 | 1398 | 161969939, 161969945-161969948, 161969951-161969957, 161969966-161969988 |
665 | TBP | 6 | 0.95882352941176 | 42 | 1020 | 170871038-170871040, 170871043, 170871046, 170871049, 170871052, 170871055-170871087, 170871095, 170871167 |
666 | LFNG | 7 | 0.79912280701754 | 229 | 1140 | 2559496-2559594, 2559602-2559635, 2559642-2559650, 2559658-2559671, 2559698-2559700, 2559703, 2559706-2559708, 2559722, 2559731-2559733, 2559736-2559744, 2559764-2559791, 2559808-2559813, 2559816-2559817, 2559823-2559834, 2559842, 2559845-2559847, 2559878 |
667 | PMS2 | 7 | 0.98493626882966 | 39 | 2589 | 6043609-6043616, 6045523-6045529, 6045577-6045600 |
668 | TWIST1 | 7 | 0.68308702791461 | 193 | 609 | 19156608-19156616, 19156635-19156645, 19156650-19156654, 19156777-19156944 |
669 | DNAH11 | 7 | 0.98953728264073 | 142 | 13572 | 21630536-21630588, 21630598-21630604, 21630634, 21630913-21630914, 21630928-21630946, 21630953-21630958, 21840844-21840851, 21882311, 21882314, 21893939-21893979, 21894007, 21894072-21894073 |
670 | FAM126A | 7 | 0.98914431673052 | 17 | 1566 | 22985208-22985216, 23000854-23000855, 23000895-23000896, 23015829-23015832 |
671 | KLHL7 | 7 | 0.99943214082907 | 1 | 1761 | 23164709 |
672 | HOXA13 | 7 | 0.73007712082262 | 315 | 1167 | 27239078-27239103, 27239259-27239269, 27239286-27239562, 27239574 |
673 | GARS | 7 | 0.9963963963964 | 8 | 2220 | 30634702-30634708, 30640717 |
674 | GHRHR | 7 | 0.99921383647799 | 1 | 1272 | 31008459 |
675 | BBS9 | 7 | 0.98460960960961 | 41 | 2664 | 33303908, 33303917-33303923, 33303927-33303943, 33303962, 33303966-33303971, 33303974, 33303981-33303986, 33313516, 33384246 |
676 | GLI3 | 7 | 0.99789162977019 | 10 | 4743 | 42005042, 42005683-42005684, 42005687, 42005691-42005694, 42005852, 42005855 |
677 | GCK | 7 | 0.99500356887937 | 7 | 1401 | 44187323-44187329 |
678 | CCM2 | 7 | 0.97752808988764 | 30 | 1335 | 45039933-45039962 |
679 | GUSB | 7 | 0.99539877300613 | 9 | 1956 | 65441103-65441111 |
680 | KCTD7 | 7 | 0.95172413793103 | 42 | 870 | 66094091, 66094145-66094185 |
681 | SBDS | 7 | 0.9933598937583 | 5 | 753 | 66460277-66460281 |
682 | NCF1 | 7 | 0.91636363636364 | 69 | 825 | 72639957-72639989, 72640033-72640039, 72643704-72643710, 72644230-72644236, 72645924-72645930, 72648743-72648750 |
683 | ELN | 7 | 0.99310344827586 | 15 | 2175 | 73442527-73442531, 73442540, 73442551, 73466266-73466273 |
684 | NCF1 | 7 | 0.9846547314578 | 18 | 1173 | 74191613-74191614, 74193642, 74193668, 74197911-74197917, 74202423-74202429 |
685 | HGF | 7 | 0.99542752629172 | 10 | 2187 | 81340817-81340818, 81340827-81340834 |
686 | ABCB4 | 7 | 0.99973958333333 | 1 | 3840 | 87031485 |
687 | AKAP9 | 7 | 0.99564994882293 | 51 | 11724 | 91609626-91609631, 91609634-91609636, 91624036-91624039, 91624045-91624048, 91625048-91625054, 91671485-91671491, 91674483, 91682065, 91712776, 91714820, 91714901-91714902, 91714911, 91715607, 91727480-91727482, 91727485, 91732092, 91736708-91736714 |
688 | KRIT1 | 7 | 0.97919493441881 | 46 | 2211 | 91843925-91843926, 91843931-91843933, 91852166-91852176, 91867048, 91867054-91867060, 91867068, 91871429-91871449 |
689 | PEX1 | 7 | 0.99740394600208 | 10 | 3852 | 92116855, 92122389, 92122410-92122415, 92140299, 92140312 |
690 | COL1A2 | 7 | 0.99341623994148 | 27 | 4101 | 94030908-94030925, 94049703-94049708, 94049920, 94058698, 94058723 |
691 | SLC25A13 | 7 | 0.99852289512555 | 3 | 2031 | 95751304-95751306 |
692 | SLC26A5 | 7 | 0.99955257270694 | 1 | 2235 | 103017292 |
693 | RELN | 7 | 0.99961453213838 | 4 | 10377 | 103244835, 103417053, 103629802-103629803 |
694 | SLC26A4 | 7 | 0.9820742637644 | 42 | 2343 | 107323647-107323675, 107323979, 107340592-107340603 |
695 | SLC26A3 | 7 | 0.99346405228758 | 15 | 2295 | 107432275-107432289 |
696 | IFRD1 | 7 | 0.93289085545723 | 91 | 1356 | 112101969-112101971, 112102120-112102160, 112102178-112102224 |
697 | CFTR | 7 | 0.94485707855053 | 245 | 4443 | 117182079-117182080, 117188713-117188753, 117188760-117188800, 117188838-117188877, 117234992-117235112 |
698 | AASS | 7 | 0.99316792520676 | 19 | 2781 | 121769447-121769449, 121769503-121769509, 121769519-121769524, 121769531, 121769537, 121769552 |
699 | IMPDH1 | 7 | 0.99 | 18 | 1800 | 128035065-128035072, 128045860, 128049881, 128049888, 128049892, 128049908-128049913 |
700 | FLNC | 7 | 0.99951088285644 | 4 | 8178 | 128470902, 128470912-128470913, 128470935 |
701 | ATP6V0A4 | 7 | 0.97820055489497 | 55 | 2523 | 138394373-138394393, 138394402, 138394411, 138394416-138394420, 138394433-138394443, 138394452-138394456, 138394476-138394484, 138394530-138394531 |
702 | BRAF | 7 | 0.9813124728379 | 43 | 2301 | 140434422, 140453127-140453162, 140507800-140507803, 140508739, 140624408 |
703 | PRSS1 | 7 | 0.89650537634409 | 77 | 744 | 142459625-142459629, 142460310-142460342, 142460366-142460397, 142460798-142460804 |
704 | CNTNAP2 | 7 | 0.99774774774775 | 9 | 3996 | 145813983-145813988, 145813997, 147914481-147914482 |
705 | KCNH2 | 7 | 0.95258620689655 | 165 | 3480 | 150644694-150644736, 150644747-150644769, 150655186, 150671861, 150671864-150671870, 150671876, 150671879-150671888, 150671894, 150671930, 150671933-150671935, 150671941-150671942, 150671951-150671986, 150674966-150675001 |
706 | PRKAG2 | 7 | 0.99766081871345 | 4 | 1710 | 151272003-151272006 |
707 | SHH | 7 | 0.97696184305256 | 32 | 1389 | 155595753-155595754, 155595760-155595761, 155595769-155595794, 155595802, 155595829 |
708 | MNX1 | 7 | 0.78441127694859 | 260 | 1206 | 156798249-156798256, 156799280-156799295, 156802458, 156802463, 156802472, 156802522-156802530, 156802536-156802542, 156802645-156802763, 156802777-156802789, 156802796-156802813, 156802841-156802860, 156802879-156802888, 156802892, 156802896-156802927, 156802932-156802935 |
709 | GATA4 | 8 | 0.99924755455229 | 1 | 1329 | 11566403 |
710 | TUSC3 | 8 | 0.9665711556829 | 35 | 1047 | 15480596, 15480600-15480601, 15480629-15480634, 15480639-15480644, 15480650-15480653, 15517044-15517055, 15588231, 15588234-15588236 |
711 | ASAH1 | 8 | 0.99915824915825 | 1 | 1188 | 17928888 |
712 | THAP1 | 8 | 0.98598130841122 | 9 | 642 | 42693201-42693209 |
713 | HGSNAT | 8 | 0.99895178197065 | 2 | 1908 | 42995694-42995695 |
714 | RP1 | 8 | 0.99969092875908 | 2 | 6471 | 55540988, 55540991 |
715 | CHD7 | 8 | 0.99844340671559 | 14 | 8994 | 61732642, 61734382, 61734477-61734479, 61734599, 61749423, 61749513, 61777856-61777861 |
716 | TTPA | 8 | 0.99044205495818 | 8 | 837 | 63973970-63973972, 63978473-63978476, 63998490 |
717 | CYP7B1 | 8 | 0.99934253780408 | 1 | 1521 | 65527698 |
718 | EYA1 | 8 | 0.99775154581225 | 4 | 1779 | 72211317, 72211436, 72211451, 72246390 |
719 | CA2 | 8 | 0.99872286079183 | 1 | 783 | 86386022 |
720 | CNGB3 | 8 | 0.99958847736626 | 1 | 2430 | 87656897 |
721 | NBN | 8 | 0.99867549668874 | 3 | 2265 | 90960102-90960104 |
722 | DECR1 | 8 | 0.99900793650794 | 1 | 1008 | 91033157 |
723 | TMEM67 | 8 | 0.97991967871486 | 60 | 2988 | 94768007, 94768065, 94768070-94768076, 94777667, 94777670-94777671, 94777677-94777682, 94777692, 94777698-94777703, 94777817-94777821, 94777832-94777836, 94777841-94777852, 94777857-94777859, 94777868-94777874, 94811900, 94827551, 94827587 |
724 | GDF6 | 8 | 0.98318713450292 | 23 | 1368 | 97157165-97157167, 97157412, 97157446, 97157621-97157628, 97172902-97172911 |
725 | VPS13B | 8 | 0.99266299816575 | 88 | 11994 | 100050735, 100123406-100123464, 100146871, 100146878, 100160136-100160138, 100160144, 100287455, 100513939, 100514022, 100514034, 100844789, 100844792, 100883859-100883874 |
726 | GRHL2 | 8 | 0.99787007454739 | 4 | 1878 | 102631827-102631830 |
727 | RRM2B | 8 | 0.99905303030303 | 1 | 1056 | 103225117 |
728 | TRPS1 | 8 | 0.9997425997426 | 1 | 3885 | 116599479 |
729 | KIAA0196 | 8 | 0.99626436781609 | 13 | 3480 | 126073381-126073393 |
730 | KCNQ3 | 8 | 0.97556319205804 | 64 | 2619 | 133492497, 133492502, 133492556-133492557, 133492591-133492596, 133492638, 133492646, 133492687-133492708, 133492749-133492778 |
731 | TG | 8 | 0.99771277236066 | 19 | 8307 | 133882071, 134024190-134024207 |
732 | NDRG1 | 8 | 0.99915611814346 | 1 | 1185 | 134274319 |
733 | CYP11B1 | 8 | 0.89814814814815 | 154 | 1512 | 143956453-143956459, 143956541-143956565, 143957128-143957154, 143957195-143957210, 143957230-143957249, 143958288-143958294, 143958513-143958533, 143958572-143958602 |
734 | CYP11B2 | 8 | 0.94312169312169 | 86 | 1512 | 143993962-143993994, 143994026-143994032, 143994266, 143994702, 143994724, 143996536-143996556, 143998608-143998629 |
735 | PLEC | 8 | 0.9891853432942 | 152 | 14055 | 144990406, 144990460-144990462, 144990467-144990468, 144990478-144990483, 144990492, 144993725, 144993965, 144995034, 144995044, 144995051, 144995056, 144995066-144995067, 144995705, 144995807, 144996220, 144996224-144996233, 144996235, 144996255-144996261, 144996270, 144996281, 144996721-144996722, 144997891, 144998882, 144998901, 144998910-144998918, 144998927-144998928, 144998957, 144998972-144998974, 144998977, 144999225, 144999234-144999239, 144999656-144999660, 144999760-144999773, 145000003-145000018, 145000021-145000025, 145001740, 145003340, 145003400, 145004354, 145005721, 145006151-145006155, 145006182-145006200, 145007029, 145008240-145008243, 145009085-145009086, 145024477-145024480 |
736 | GPT | 8 | 0.99463447350771 | 8 | 1491 | 145730790, 145731281-145731282, 145731285, 145731492, 145731512, 145732031-145732032 |
737 | RECQL4 | 8 | 0.99944858009374 | 2 | 3627 | 145738764, 145738809 |
738 | DOCK8 | 9 | 0.99777777777778 | 14 | 6300 | 214999, 452053-452065 |
739 | VLDLR | 9 | 0.98588863463005 | 37 | 2622 | 2622228-2622264 |
740 | KCNV2 | 9 | 0.98778998778999 | 20 | 1638 | 2717983-2717984, 2717993, 2718340-2718346, 2718730-2718735, 2718764-2718767 |
741 | GLIS3 | 9 | 0.99892588614393 | 3 | 2793 | 4118018, 4118072, 4118105 |
742 | JAK2 | 9 | 0.97263901147396 | 93 | 3399 | 5066759, 5077453-5077532, 5077569-5077580 |
743 | TYRP1 | 9 | 0.99752168525403 | 4 | 1614 | 12694160-12694163 |
744 | CDKN2A | 9 | 0.99787685774947 | 1 | 471 | 21974777 |
745 | NPR2 | 9 | 0.99936386768448 | 2 | 3144 | 35792543, 35792687 |
746 | TMC1 | 9 | 0.99956197985107 | 1 | 2283 | 75369722 |
747 | VPS13A | 9 | 0.96472440944882 | 336 | 9525 | 79820312-79820324, 79824412, 79840864-79840898, 79841470-79841505, 79842374, 79842384-79842385, 79843056, 79843097, 79843146-79843151, 79843164, 79853195, 79891134-79891136, 79896783-79896829, 79897130, 79897133-79897134, 79897145-79897146, 79910613-79910615, 79928924-79928928, 79928932, 79928961, 79929021-79929025, 79931110, 79931163-79931166, 79931169, 79931177-79931183, 79931199, 79931203-79931206, 79932522-79932614, 79933151-79933152, 79933163-79933167, 79933170-79933174, 79933177-79933186, 79933192, 79934521, 79938107, 79952239, 79952243, 79952264, 79952291-79952293, 79952303-79952306, 79959097-79959099, 79959104-79959105, 79959141, 79959148-79959149, 79974254-79974255, 79996960-79996967, 79996970-79996973 |
748 | ROR2 | 9 | 0.99964689265537 | 1 | 2832 | 94486022 |
749 | SPTLC1 | 9 | 0.99789029535865 | 3 | 1422 | 94843189-94843191 |
750 | PTCH1 | 9 | 0.9933241252302 | 29 | 4344 | 98212159-98212166, 98231118-98231121, 98231377-98231392, 98270643 |
751 | HSD17B3 | 9 | 0.9957127545552 | 4 | 933 | 99064323-99064326 |
752 | FOXE1 | 9 | 0.9795008912656 | 23 | 1122 | 100616309-100616310, 100616326-100616327, 100616330-100616332, 100616698, 100616701-100616710, 100616719-100616722, 100617128 |
753 | TGFBR1 | 9 | 0.98082010582011 | 29 | 1512 | 101867493-101867498, 101867503-101867504, 101867538-101867556, 101867561, 101900171 |
754 | ABCA1 | 9 | 0.99970527556734 | 2 | 6786 | 107574867-107574868 |
755 | IKBKAP | 9 | 0.99974993748437 | 1 | 3999 | 111656322 |
756 | MUSK | 9 | 0.9992337164751 | 2 | 2610 | 113547851-113547852 |
757 | ALAD | 9 | 0.98992950654582 | 10 | 993 | 116152772-116152773, 116153203-116153210 |
758 | DFNB31 | 9 | 0.9985315712188 | 4 | 2724 | 117266692, 117266934, 117266996, 117267001 |
759 | NR5A1 | 9 | 0.9963924963925 | 5 | 1386 | 127245161-127245163, 127245166-127245167 |
760 | LMX1B | 9 | 0.98838248436104 | 13 | 1119 | 129456062-129456064, 129458202-129458206, 129458209-129458213 |
761 | STXBP1 | 9 | 0.99944812362031 | 1 | 1812 | 130415999 |
762 | TOR1A | 9 | 0.99499499499499 | 5 | 999 | 132586324, 132586327-132586330 |
763 | SETX | 9 | 0.99987552900174 | 1 | 8034 | 135139892 |
764 | TSC1 | 9 | 0.99799713876967 | 7 | 3495 | 135785967-135785973 |
765 | CEL | 9 | 0.83531483927785 | 374 | 2271 | 135937388-135937399, 135944521-135944534, 135944582-135944589, 135945985-135946018, 135946621-135946624, 135946633-135946636, 135946675-135946972 |
766 | SURF1 | 9 | 0.96899224806202 | 28 | 903 | 136218813, 136223163-136223164, 136223278-136223291, 136223300, 136223314-136223320, 136223324, 136223328-136223329 |
767 | ADAMTS13 | 9 | 0.98529411764706 | 63 | 4284 | 136293762-136293774, 136293796-136293802, 136293806-136293807, 136293818-136293845, 136295164, 136303443-136303445, 136307856-136307861, 136308654, 136308657, 136310145 |
768 | COL5A1 | 9 | 0.99891245241979 | 6 | 5517 | 137534085, 137534099-137534101, 137534104, 137534109 |
769 | LHX3 | 9 | 0.96526054590571 | 42 | 1209 | 139089309-139089311, 139090799-139090805, 139090809, 139090849-139090852, 139090885, 139090890-139090905, 139094857-139094866 |
770 | INPP5E | 9 | 0.98501291989664 | 29 | 1935 | 139326276-139326280, 139333156-139333157, 139333160, 139333308-139333311, 139333317-139333321, 139333332-139333339, 139333344-139333347 |
771 | NOTCH1 | 9 | 0.99465310380803 | 41 | 7668 | 139391255, 139391326, 139391549-139391554, 139391560-139391564, 139391574-139391579, 139391816, 139391879, 139391947, 139391967, 139391988-139391989, 139392002-139392010, 139395123-139395126, 139407499, 139440192-139440193 |
772 | AGPAT2 | 9 | 0.93309438470729 | 56 | 837 | 139581665, 139581748-139581802 |
773 | SLC34A3 | 9 | 0.95333333333333 | 84 | 1800 | 140127830-140127832, 140127837, 140128315-140128385, 140128576, 140128626, 140128634, 140128644, 140128688-140128691, 140130757 |
774 | EHMT1 | 9 | 0.99384141647421 | 24 | 3897 | 140605430-140605435, 140605444-140605453, 140605468-140605472, 140705913-140705915 |
775 | SHOX | X | 0.98634812286689 | 12 | 879 | 591741-591752 |
776 | CSF2RA | X | 0.9992337164751 | 1 | 1305 | 1422241 |
777 | FANCB | X | 0.99767441860465 | 6 | 2580 | 14877371-14877376 |
778 | ARX | X | 0.97276494967436 | 46 | 1689 | 25031285-25031286, 25031301-25031305, 25031480, 25031642-25031659, 25031664-25031673, 25031676, 25031682, 25031777-25031784 |
779 | NR0B1 | X | 0.99716914366596 | 4 | 1413 | 30326615-30326617, 30326620 |
780 | DMD | X | 0.99882438053898 | 13 | 11058 | 31697659, 32398634-32398638, 32398765-32398769, 32472859-32472860 |
781 | RPGR | X | 0.94680543509685 | 184 | 3459 | 38145338-38145385, 38145502-38145630, 38145655-38145660, 38145704 |
782 | NYX | X | 0.99792531120332 | 3 | 1446 | 41333050-41333052 |
783 | MAOA | X | 0.98800505050505 | 19 | 1584 | 43571963-43571981 |
784 | WAS | X | 0.99536116633532 | 7 | 1509 | 48547221-48547227 |
785 | AR | X | 0.98081795150199 | 53 | 2763 | 66765159-66765201, 66766373, 66766381-66766389 |
786 | MED12 | X | 0.99250076522804 | 49 | 6534 | 70338615-70338647, 70352034-70352036, 70360645-70360648, 70360661-70360662, 70361098-70361100, 70361110-70361113 |
787 | TAF1 | X | 0.97712073213657 | 130 | 5682 | 70586167-70586277, 70586287-70586291, 70586302-70586303, 70586313-70586324 |
788 | ATP7A | X | 0.99977792582723 | 1 | 4503 | 77298857 |
789 | BRWD3 | X | 0.9935293030135 | 35 | 5409 | 79991570-79991573, 80064940-80064970 |
790 | ZIC3 | X | 0.997150997151 | 4 | 1404 | 136651125, 136651161-136651163 |
791 | SOX3 | X | 0.99925428784489 | 1 | 1341 | 139586500 |
792 | SLC6A8 | X | 0.9517819706499 | 92 | 1908 | 152954051, 152954064-152954065, 152954110-152954114, 152954122-152954146, 152954162-152954211, 152954232-152954240 |
793 | ABCD1 | X | 0.98972296693476 | 23 | 2238 | 153008675-153008678, 153009137-153009155 |
794 | MECP2 | X | 0.9873079492318 | 19 | 1497 | 153295947, 153363087-153363104 |
795 | OPN1MW | X | 0.99908675799087 | 1 | 1095 | 153496198 |
796 | USP9Y | Y | 0.99843505477308 | 12 | 7668 | 14848436-14848437, 14898656-14898662, 14958323-14958325 |
Effect rank | Variant | Phase/ Zygosity | Allele freq | Impact | Evaluation | Summary / Info |
---|---|---|---|---|---|---|
5 | BRCA1-Q356R | het unknown | 0.023 | Dominant pathogenic | Moderate clinical importance, likely | This variant was associated with an increased susceptibility to breast cancer. Johnson et al. found strongest significance for a dominant hypothesis. We estimate a woman carrying this variant to have an attributable increased lifetime risk of breast cancer of ~6% (~18% total, assuming 12% average lifetime risk). |
5 | BRCA1-L246V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
5 | POLG-Q1236H | homozygous | 0.031 | Complex/Other pathogenic | Low clinical importance, uncertain | Generally a nonpathogenic polymorphism, but may have a modifier effect that increases severity when combined in cis with other pathogenic variants. |
3 | LOXL1-R141L | homozygous | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.998 (probably damaging) | |
3 | CASP10-V410I | het unknown | 0.031 | Dominant protective | Low clinical importance, likely | Reported to have a protective effect on breast cancer. If the lifetime risk of breast cancer is 12%, women with this variant may have a lower risk of 8-9% (30% less than average). |
3 | CASP10-L522I | homozygous | 0.309 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
2.5 | RANBP2-E580K | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
2.5 | RANBP2-C581Y | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
2.5 | RANBP2-T585M | het unknown | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.732 (possibly damaging), Testable gene in GeneTests | |
2.5 | RANBP2-T2492A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
2.5 | KRT5-G138E | het unknown | 0.031 | Unknown pathogenic | Low clinical importance, likely | This variant is associated with 1.25x increased risk of basal cell carcinoma (common skin cancer, rarely malignant). |
2 | NEFL-S472Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
2 | CCR5-R60S | het unknown | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.064 (benign) | |
2 | CHIT1-A442G | het unknown | 0.092 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
2 | CHIT1-G102S | homozygous | 0.268 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.057 (benign), Testable gene in GeneTests |
2 | TGIF1-P83Shift | homozygous | 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. |
2 | TGIF1-P292S | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
2 | TGIF1-P292L | het unknown | 0.073 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
2 | ITGAM-R77H | het unknown | 0.095 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.048 (benign) |
2 | ITGAM-A859V | het unknown | 0.136 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
2 | ITGAM-P1147S | het unknown | 0.141 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
2 | BLMH-I443V | homozygous | 0.241 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
1.5 | NPC1-I858V | homozygous | 0.480 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.061 (benign), Testable gene in GeneTests with associated GeneReview |
1.5 | NPC1-H215R | homozygous | 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). |
1.5 | LPL-S474* | het unknown | 0.096 | Unknown protective | Low clinical importance, uncertain | This variant actually increases LPL enzyme activity despite creating a termination codon (see Rip J et al). It appears to be a protective variant, associated with lower triglyceride levels--although the effect is quite weak and explains only 0.5-1% of triglyceride variation. |
1.5 | KCNJ11-V337I | homozygous | 0.761 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1.5 | KCNJ11-K23E | homozygous | 0.711 | Unknown protective | Low clinical importance, likely | This variant is associated with decreased risk of type 2 diabetes. It is unclear whether this variant has additive effects, or acts in a dominant or recessive manner. Assuming diabetes has a lifetime risk of 36%, we estimate a decreased risk of around 1-2% per copy of this variant. |
1.5 | CYP2C9-R144C | het unknown | 0.027 | Unknown pharmacogenetic | Moderate clinical importance, well-established | This variant, also called CYP2C9*2, is a pharmacogenetic variant that modulates sensitivity for Warfarin (due to reduced metabolism). This variant is associated with Caucasians. The FDA has approved reduced recommended Warfarin dosage based on the presence of this variant. |
1.25 | PRODH-R521Q | homozygous | 0.887 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
1.25 | PRODH-R431H | het unknown | 0.035 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests |
1.25 | PRODH-W185R | homozygous | 0.826 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
1.25 | RNASEL-D541E | homozygous | 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 | 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 | 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 | CYBA-V174A | het unknown | 0.417 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
1 | CYBA-Y72H | homozygous | 0.649 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
1 | PTPN22-W620R | homozygous | 0.970 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
1 | PTPN22-N514T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | AKAP10-I646V | het unknown | 0.434 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
1 | AKAP10-R249H | het unknown | 0.427 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | ELAC2-S217L | het unknown | 0.209 | Complex/Other pathogenic | Low clinical importance, uncertain | Reported to be associated with increased susceptibility to prostate cancer, but later studies weaken the hypothesis. Xu et al.'s meta-analysis concludes that there is a small but significant increased risk (OR = 1.13). Assuming a lifetime risk of 16% for prostate cancer we calculate this leads to an increased risk of ~1.5% (17.5% total). |
1 | PIK3R6-L609Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
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 | ZNF167-N494Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | HLA-DQA1-L8M | homozygous | 0.457 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | HLA-DQA1-F41S | homozygous | 0.544 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | HLA-DQA1-A68V | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
1 | HLA-DQA1-G84F | homozygous | 0.122 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | HLA-DQA1-R87T | homozygous | 0.170 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | HLA-DQA1-M89I | homozygous | 0.200 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | HLA-DQA1-Y103S | homozygous | 0.544 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | TNXB-W458C | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
1 | TNXB-R48P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
1 | HSH2D-S223Shift | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
1 | C19orf55-G398Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | INSR-A2G | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
1 | NR_015394-G45W | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | NR_015394-F74S | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | NR_015394-T113Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | AP1S2-R29P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
1 | CUL7-Q813R | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
1 | ALG6-S306F | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
1 | CD226-S307G | homozygous | 0.423 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
1 | CCDC66-D5Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | CCDC66-Q383R | homozygous | 0.934 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | CCDC66-R460Q | homozygous | 0.206 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.999 (probably damaging) |
1 | ZNF598-M637T | het unknown | 0.601 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | ZNF598-DM13AL | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | ZNF598-G6Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | ZFPM1-R22G | homozygous | 0.569 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | ZFPM1-E444Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | ZFPM1-L446Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | SH2B3-W262R | homozygous | 0.768 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
1 | CYP1B1-V432L | homozygous | 0.547 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | CYP1B1-A119S | het unknown | 0.080 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | CYP1B1-R48G | het unknown | 0.360 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | F5-L1285I | het unknown | 0.172 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | F5-Q534R | homozygous | 0.991 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | 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 | PTCHD3-*768Q | homozygous | 0.570 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | PTCHD3-I584M | homozygous | 0.963 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | PTCHD3-M521T | homozygous | 0.498 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | PTCHD3-D473G | homozygous | 0.499 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.849 (possibly damaging) |
1 | PTCHD3-C407G | homozygous | 0.490 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 1.0 (probably damaging) |
1 | PTCHD3-S309Shift | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
1 | KRT4-Q230R | het unknown | 0.301 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
1 | KRT4-G160GAGGFGAGFGTGGFG | homozygous | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
1 | KRT4-A146V | het unknown | 0.241 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
1 | B3GNT6-L316Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | B3GNT6-L335Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | USH2A-M3868V | het unknown | 0.131 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | USH2A-I2169T | homozygous | 0.575 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | USH2A-I2106T | homozygous | 0.629 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | USH2A-T2086N | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
1 | USH2A-I1665T | homozygous | 0.052 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.3 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
1 | USH2A-D644V | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.137 (benign), Testable gene in GeneTests with associated GeneReview |
1 | USH2A-A125T | het unknown | 0.777 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | TIRAP-S180L | het unknown | 0.073 | Complex/Other pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
1 | VDR-M1T | homozygous | 0.687 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests |
1 | HADHB-T2TT | homozygous | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
1 | HADHB-P429S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
1 | TSHR-P52T | homozygous | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
1 | TSHR-E727D | homozygous | 0.895 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
1 | THBS1-N700S | homozygous | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
1 | NR_027242-A221S | homozygous | 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 | DLL3-F172C | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests with associated GeneReview | |
1 | DLL3-L218P | homozygous | 0.650 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | DLL3-R387L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
1 | TSC2-R1706C | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.942 (probably damaging), Testable gene in GeneTests with associated GeneReview |
1 | GSPT1-G92C | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) | |
1 | KCP-H313Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | KCP-A16Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | NPRL3-L489Shift | homozygous | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
1 | KCNH2-K897T | het unknown | 0.098 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
1 | PLEKHA2-P389Shift | homozygous | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
1 | TTN-A19840P | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
1 | TTN-S3419N | homozygous | 0.850 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | TTN-V3261M | homozygous | 0.840 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | TTN-S1295L | homozygous | 0.881 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | TTN-K1201E | homozygous | 0.519 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | TTN-T811I | homozygous | 0.146 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | TTN-E190Shift | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview |
1 | FRZB-R200W | het unknown | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.999 (probably damaging) |
1 | ATG9B-A765Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | ATG9B-N493S | het unknown | 0.079 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | CHRNA5-D398N | het unknown | 0.158 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign) |
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 | 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 | IL7R-I66T | homozygous | 0.597 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
1 | IL7R-V138I | homozygous | 0.689 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
1 | IL7R-I356V | homozygous | 0.214 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
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 | SCARF2-A832G | 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 | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | IL13-Q144R | homozygous | 0.766 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
1 | BANK1-R61H | het unknown | 0.221 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
1 | BANK1-C650R | homozygous | 0.990 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | PADI6-V343Shift | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
1 | ZNF880-N106Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | ZNF880-N140NN | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | ZNF880-R198S | homozygous | 0.354 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | ZNF880-N202H | homozygous | 0.292 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | ZNF880-K316R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | ZNF880-S319T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | ZNF880-K471R | homozygous | 0.328 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | ZNF543-P55A | homozygous | 0.445 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.342 (possibly damaging) |
1 | ZNF543-Q107R | homozygous | 0.677 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | ZNF543-L246H | homozygous | 0.675 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | ZNF543-G559R | homozygous | 0.044 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.987 (probably damaging) |
1 | PCSK1-S690T | het unknown | 0.218 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.061 (benign), Testable gene in GeneTests |
1 | PCSK1-Q665E | het unknown | 0.238 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
1 | PCSK1-N221D | het unknown | 0.020 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.006 (benign), Testable gene in GeneTests |
1 | GPR98-L1093F | homozygous | 0.835 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | GPR98-V1951I | homozygous | 0.820 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | GPR98-P1987L | homozygous | 0.333 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.366 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
1 | GPR98-A2106V | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests with associated GeneReview |
1 | GPR98-Y2232C | homozygous | 0.349 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.989 (probably damaging), Testable gene in GeneTests with associated GeneReview |
1 | GPR98-N2345S | homozygous | 0.304 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
1 | GPR98-N2584S | homozygous | 0.825 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | GPR98-E3471K | homozygous | 0.834 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | GPR98-E3867K | homozygous | 0.356 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | GPR98-E5344G | homozygous | 0.903 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
1 | GPR98-V5427M | homozygous | 0.918 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | GPR98-V5876I | het unknown | 0.424 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.94 (probably damaging), Testable gene in GeneTests with associated GeneReview |
1 | VCAN-K349E | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests with associated GeneReview |
1 | VCAN-G428D | het unknown | 0.215 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.923 (probably damaging), Testable gene in GeneTests with associated GeneReview |
1 | KRTAP7-1-I61S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | KRTAP7-1-S51P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | KRTAP7-1-Y17Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | ZNF761-L47Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | ZNF761-I122S | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | ZNF761-V168I | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | ZNF761-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 | LDLRAP1-S202P | homozygous | 0.473 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.803 (possibly damaging), Testable gene in GeneTests |
1 | LDLRAP1-R238W | het unknown | 0.016 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests |
1 | TCEAL6-Q175Shift | homozygous | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
1 | KCNE1L-P33S | homozygous | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.979 (probably damaging) |
1 | BCOR-P305Del | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
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 | FAM58A-Q15Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests | |
1 | FAM58A-G4Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests | |
1 | IDUA-R105Q | homozygous | 0.147 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.023 (benign), Testable gene in GeneTests with associated GeneReview |
1 | IDUA-A361T | homozygous | 0.204 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | IDUA-V454I | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview | |
1 | AVPR2-G12E | homozygous | 0.033 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.011 (benign), Testable gene in GeneTests with associated GeneReview |
1 | RAB40A-H45L | homozygous | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.907 (probably damaging) |
1 | DGKK-L1014Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | BC112980-K147Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | EBP-R171C | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
1 | ITIH5L-W1041S | homozygous | 0.026 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.986 (probably damaging) |
1 | ATP7A-V767L | homozygous | 0.332 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.75 | PRNP-M129V | het unknown | 0.258 | Complex/Other protective | Low clinical importance, well-established | This variant is associated with some protective effects for prion disease -- individuals homozygous for this variant are less susceptible to Creutzfeldt-Jakob, and Papua New Guinea individuals heterozygotes at this site are less susceptible to kuru. |
0.75 | ABCC6-R1268Q | het unknown | 0.142 | Unknown pharmacogenetic | Low clinical importance, uncertain | This common polymorphism appears to not have a significant phenotypic impact. A few studies report weak but significant associations with plasma lipids (in Inuits) and thalidomide toxicity. |
0.75 | ABCC6-M848V | homozygous | 0.954 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.75 | ABCC6-H632Q | het unknown | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.75 | ABCC6-V614A | het unknown | 0.354 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, 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 |
0.625 | RYR2-G1886S | het unknown | 0.115 | Recessive pathogenic | High clinical importance, uncertain | Reported to cause arrhythmogenic right ventricular cardiomyopathy when compound heterozygous with G1885E, although this finding is weakened after correcting for multiple hypotheses and it is unclear what penetrance such a genotype might have, if it is causal. |
0.625 | RYR2-Q2958R | homozygous | 0.133 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.625 | MTRR-I49M | het unknown | 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. |
0.625 | MTRR-S202L | het unknown | 0.285 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | COL9A1-Q621R | het unknown | 0.335 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | COL9A1-S339P | homozygous | 0.507 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CDK5RAP2-V1540L | het unknown | 0.714 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CDK5RAP2-E289Q | homozygous | 0.801 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | 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 | 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 | FKBP15-P993T | het unknown | 0.029 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.976 (probably damaging) |
0.5 | FKBP15-E946EE | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | FKBP15-A847S | het unknown | 0.113 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.306 (possibly damaging) |
0.5 | SLC26A2-I574T | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | IKBKAP-I816L | het unknown | 0.316 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | IKBKAP-G765E | het unknown | 0.315 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | IKBKAP-R525Q | het unknown | 0.088 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DYSF-A614V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | DYSF-G1492S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | DYSF-D1915N | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | MCEE-R104L | homozygous | 0.194 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | NEBL-K60N | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
0.5 | SLC9A10-V1058A | het unknown | 0.075 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.021 (benign) |
0.5 | SLC9A10-M844V | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
0.5 | SLC9A10-Q732K | het unknown | 0.789 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.99 (probably damaging) |
0.5 | SLC9A10-T705I | het unknown | 0.790 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.005 (benign) |
0.5 | CUBN-E3002G | het unknown | 0.088 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | CUBN-I2984V | het unknown | 0.062 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | CUBN-A2914V | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | CUBN-L2879I | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | CUBN-S2717W | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | CUBN-C2162Y | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | CUBN-L2153F | het unknown | 0.102 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | CUBN-P1559S | homozygous | 0.565 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | CUBN-P389T | het unknown | 0.513 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | CUBN-F253S | homozygous | 0.801 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | FAM166A-P84L | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
0.5 | HSPA1L-T493M | homozygous | 0.868 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign) |
0.5 | RETNLB-L14Shift | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
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 | DENND4C-I5L | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.956 (probably damaging) |
0.5 | CNGB3-I307V | het unknown | 0.062 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (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 | BST1-R125H | het unknown | 0.049 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
0.5 | PEX2-C184R | homozygous | 0.990 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | 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 | EIF2B5-I587V | homozygous | 0.370 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | 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 | FER1L6-D1110E | homozygous | 0.780 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | FER1L6-R1720Q | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
0.5 | TRMT12-W28R | het unknown | 0.615 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | TRMT12-D195Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
0.5 | TRMT12-D195E | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.015 (benign) |
0.5 | DOCK8-P97T | homozygous | 0.512 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests |
0.5 | CLDN16-R55Shift | homozygous | 0.172 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift, Testable gene in GeneTests |
0.5 | RECQL4-R1005Q | het unknown | 0.258 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | RECQL4-R766Shift | homozygous | 0.278 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests with associated GeneReview |
0.5 | RECQL4-E267D | het unknown | 0.471 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | RECQL4-S92P | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | AK094577-C82Shift | het unknown | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
0.5 | NEB-I6534V | het unknown | 0.372 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | NEB-A6277P | homozygous | 0.691 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | NEB-R4389T | homozygous | 0.724 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | NEB-W3348C | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | NEB-K2613N | het unknown | 0.138 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | NEB-V1491M | homozygous | 0.453 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | NEB-Y1301H | homozygous | 0.668 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | NEB-K1027N | homozygous | 0.476 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ZC3H3-S881Del | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | ZC3H3-P857S | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.994 (probably damaging) |
0.5 | ZC3H3-S452G | homozygous | 0.754 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | ZC3H3-S399G | homozygous | 0.375 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | ZC3H3-A228S | homozygous | 0.140 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.068 (benign) |
0.5 | ZC3H3-E151D | homozygous | 0.406 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 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-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 | KIAA1949-G339R | het unknown | 0.050 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
0.5 | XDH-I703V | het unknown | 0.082 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.336 (possibly damaging), Testable gene in GeneTests |
0.5 | XDH-I646V | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | FGFR3-P451S | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | BAG3-C151R | het unknown | 0.065 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | FGFR4-P136L | het unknown | 0.768 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | FGFR4-G388R | het unknown | 0.301 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.481 (possibly damaging) |
0.5 | 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 | COL17A1-D1370G | het unknown | 0.257 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | COL17A1-M703V | homozygous | 0.672 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | COL17A1-G428S | homozygous | 0.771 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | COL17A1-T210M | homozygous | 0.557 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | GRK5-Q41L | het unknown | 0.096 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.016 (benign) |
0.5 | OR2T3-Y109H | het unknown | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
0.5 | GRM6-A807V | het unknown | 0.030 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.418 (possibly damaging), Testable gene in GeneTests |
0.5 | GRM6-Q59P | het unknown | 0.211 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
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 | SPTY2D1-K617R | het unknown | 0.194 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.597 (possibly damaging) |
0.5 | SPTY2D1-R447Q | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.932 (probably 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 | PROP1-A142T | het unknown | 0.206 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | PROP1-N20S | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | MTR-D919G | het unknown | 0.262 | Complex/Other protective | Low clinical importance, uncertain | This variant was weakly associated with a protective effect vs. colorectal cancer, but only in individuals with low alcohol consumption. |
0.5 | 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 | POLN-Q121H | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) |
0.5 | TPO-A373S | homozygous | 0.188 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
0.5 | TPO-S398T | homozygous | 0.684 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.988 (probably damaging), Testable gene in GeneTests |
0.5 | TPO-V847A | homozygous | 0.674 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
0.5 | CHAT-L243F | het unknown | 0.023 | 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 | 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 | NHLRC1-P111L | homozygous | 0.250 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.992 (probably damaging), 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 | ZFP57-D368V | het unknown | 0.087 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ERCC6-G446D | het unknown | 0.014 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.205 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | KIF4B-R580L | homozygous | 0.685 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | KIF4B-I834Shift | het unknown | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
0.5 | CDH23-G488A | homozygous | 0.180 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CDH23-N1349D | het unknown | 0.772 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CDH23-A1572T | het unknown | 0.720 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CDH23-V1672I | het unknown | 0.133 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CDH23-R1801Q | het unknown | 0.172 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CDH23-T1996S | het unknown | 0.248 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CDH23-E2041K | het unknown | 0.344 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CDH23-R2355Q | het unknown | 0.349 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CDH23-P2377L | het unknown | 0.338 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | BC040901-C89W | het unknown | 0.706 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | BC040901-P93S | het unknown | 0.548 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | BC040901-A106Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
0.5 | CYP2C8-K399R | het unknown | 0.061 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign) |
0.5 | CYP2C8-R139K | het unknown | 0.078 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.015 (benign) |
0.5 | APOB-A4481T | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | APOB-S4338N | het unknown | 0.725 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | APOB-P2739L | het unknown | 0.346 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | APOB-I2313V | het unknown | 0.964 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | APOB-Y1422C | homozygous | 0.994 | Unknown benign | Low clinical importance, uncertain | This position is almost certainly an error in the HG18 reference sequence. |
0.5 | APOB-A618V | het unknown | 0.494 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | MYOF-D342N | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
0.5 | ANXA11-R230C | het unknown | 0.382 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
0.5 | TUBB2B-C201S | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.379 (possibly damaging), Testable gene in GeneTests | |
0.5 | FLT4-R1146H | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | 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 |
0.5 | FLT4-N149D | het unknown | 0.023 | Unknown benign | Low clinical importance, likely | Other severe variants in this gene are implicated in causing Milroy Disease (primary lymphedema) in a recessive manner. Although this variant is rare (2.3% allele frequency), it is still common enough that it is highly unlikely to have a severe, high penetrance pathogenic effect. |
0.5 | BCHE-A567T | homozygous | 0.138 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | BCHE-E283D | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | SPATA18-S227P | het unknown | 0.311 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.27 (possibly damaging) |
0.5 | SPATA18-R267H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | SPATA18-K292R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.877 (probably damaging) |
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 | ZXDC-P562L | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging) |
0.5 | WDR41-R441H | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
0.5 | WDR41-V329I | het unknown | 0.533 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
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 | MUT-I671V | homozygous | 0.522 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | MUT-R532H | het unknown | 0.238 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | 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-E269K | het unknown | 0.096 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | COL4A3-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 | DNAH11-T1038A | het unknown | 0.747 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DNAH11-I1334T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | DNAH11-N2641S | het unknown | 0.367 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DNAH11-A3474T | het unknown | 0.501 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DNAH11-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 | COL4A4-S1400P | homozygous | 0.504 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | COL4A4-V1327M | homozygous | 0.464 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | COL4A4-P1004L | homozygous | 0.528 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | COL4A4-P482S | homozygous | 0.493 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | IQCF1-R114Q | het unknown | 0.020 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
0.5 | EPDR1-A36Shift | het unknown | 0.012 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
0.5 | CCNO-I219Shift | het unknown | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
0.5 | CCNO-CG205FC | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
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 | homozygous | 0.723 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | OBSL1-R723K | homozygous | 0.770 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | BDP1-D38E | homozygous | 0.755 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | BDP1-K722E | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging) |
0.5 | BDP1-R757C | het unknown | 0.314 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | BDP1-V778M | het unknown | 0.400 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.009 (benign) |
0.5 | BDP1-G1180S | het unknown | 0.419 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | BDP1-F1244I | het unknown | 0.402 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | BDP1-I1264M | homozygous | 0.794 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | BDP1-V1347M | homozygous | 0.808 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | BDP1-K1469E | het unknown | 0.379 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.038 (benign) |
0.5 | BDP1-I2013L | homozygous | 0.824 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | BDP1-N2555S | het unknown | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.009 (benign) |
0.5 | GHRHR-M422T | het unknown | 0.028 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | SRA1-V110RL | homozygous | 0.360 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | SLC6A5-G102S | homozygous | 0.420 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | SLC6A5-F124S | homozygous | 0.803 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | SLC6A5-A162G | homozygous | 0.997 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | RSPH4A-T149S | het unknown | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | RSPH4A-L589P | het unknown | 0.707 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | LAMA2-R619H | het unknown | 0.300 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | LAMA2-G1584S | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | LAMA2-A2585V | het unknown | 0.594 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | SACM1L-A337Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.5 | SACM1L-F338Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.5 | SACM1L-Y434F | homozygous | 0.531 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.011 (benign) |
0.5 | SEC63-T676I | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.288 (possibly damaging), Testable gene in GeneTests |
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 | UMPS-G213A | het unknown | 0.170 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | SLC22A4-I306T | het unknown | 0.588 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
0.5 | SLC22A4-L503F | het unknown | 0.142 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
0.5 | SLC41A3-L501Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
0.5 | SLC41A3-T62A | homozygous | 0.982 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | ATG16L1-T300A | homozygous | 0.347 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
0.5 | PKHD1-Q4048R | het unknown | 0.566 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | PKHD1-Q3899R | het unknown | 0.546 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | PKHD1-L1870V | homozygous | 0.905 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | PKHD1-A1262V | homozygous | 0.239 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | PKHD1-R760C | homozygous | 0.318 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | MLH1-I219V | homozygous | 0.124 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | SYNE1-G8323A | het unknown | 0.310 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | SYNE1-F7302V | homozygous | 0.991 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | SYNE1-L5015M | homozygous | 0.866 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | SYNE1-S4596T | homozygous | 0.800 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | SYNE1-K4121R | homozygous | 0.835 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | SYNE1-E4060D | homozygous | 0.539 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | EYS-R2326Q | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | EYS-N1902I | homozygous | 0.316 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | EYS-L1419S | homozygous | 0.780 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | EYS-L852P | het unknown | 0.655 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | EYS-E641V | het unknown | 0.112 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | VTA1-L283Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
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 | 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 | BLVRA-A3T | homozygous | 0.835 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | BLVRA-Q56R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) | |
0.5 | COL3A1-A698T | homozygous | 0.181 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | COL3A1-H1353Q | homozygous | 0.990 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | 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 | ADRB2-G16R | het unknown | 0.477 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
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 | SLC39A7-G124R | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.961 (probably damaging) |
0.5 | FNIP2-S551R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.986 (probably damaging) |
0.5 | BBS12-R386Q | het unknown | 0.515 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | BBS12-D467N | het unknown | 0.094 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CDK5-Y285D | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
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 | SFTPC-T138N | homozygous | 0.172 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | SFTPC-S186N | homozygous | 0.222 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | BMP3-Y67N | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.987 (probably damaging) |
0.5 | BMP3-L205F | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.17 (benign) |
0.5 | TNXB-R2597Q | het unknown | 0.157 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | TNXB-G2518E | homozygous | 0.658 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | TNXB-G2495S | het unknown | 0.153 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | TNXB-V2127M | het unknown | 0.141 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | TNXB-E1905K | het unknown | 0.061 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | TNXB-H1161R | het unknown | 0.568 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | TNXB-S921A | het unknown | 0.173 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | TNXB-R650H | het unknown | 0.078 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | TNXB-R511H | het unknown | 0.181 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | TNXB-T302A | het unknown | 0.030 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | TNXB-V203M | het unknown | 0.078 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | NAT2-I114T | het unknown | 0.220 | Recessive pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
0.5 | NAT2-R197Q | het unknown | 0.272 | Recessive pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
0.5 | NAT2-R268K | het unknown | 0.675 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | HLA-DQB1-D167G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | HLA-DQB1-G157A | homozygous | 0.539 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | 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-R304I | het unknown | 0.075 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | MCPH1-D314H | het unknown | 0.648 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | MCPH1-D392G | homozygous | 0.979 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | MCPH1-A761V | het unknown | 0.504 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | MCPH1-P828S | het unknown | 0.241 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | AF035281-S47Shift | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
0.5 | AF035281-Q119R | het unknown | 0.697 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | NSD1-M2250I | het unknown | 0.061 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.168 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | NSD1-M2261T | het unknown | 0.064 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | NSD1-A2546T | het unknown | 0.026 | Unknown benign | Low clinical importance, uncertain | Benign, reported as a polymorphism. |
0.5 | PON1-Q192R | homozygous | 0.572 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
0.5 | TULP1-K261N | homozygous | 0.805 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | TULP1-T67R | homozygous | 0.877 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | 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 | AKAP9-M463I | het unknown | 0.376 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | AKAP9-K1335KQ | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | AKAP9-N2792S | het unknown | 0.271 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | AKAP9-L3588P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
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 | EGFR-R521K | het unknown | 0.259 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
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 | CYP3A7-R409T | homozygous | 0.669 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | CLCN1-H29P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | CLCN1-G118W | homozygous | 0.995 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DNAH5-I4450V | het unknown | 0.481 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DNAH5-A4134V | het unknown | 0.450 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DNAH5-Q2463R | het unknown | 0.263 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | DNAH5-I766L | het unknown | 0.404 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.026 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | DNAH5-T558A | 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-H12Q | homozygous | 0.896 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | PCDHB6-H636Q | homozygous | 0.617 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.393 (possibly damaging) |
0.5 | PCDHB6-L684F | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.985 (probably damaging) |
0.5 | PCDHB6-G776D | het unknown | 0.102 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | CARD6-L30Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
0.5 | CYP3A4-D174H | het unknown | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.005 (benign) | |
0.5 | AX746964-G175Shift | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
0.5 | AX746964-K166I | het unknown | 0.628 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | HEATR7B2-D1529G | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging) |
0.5 | HEATR7B2-L1179P | homozygous | 0.779 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | HEATR7B2-F890L | het unknown | 0.040 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
0.5 | HEATR7B2-R526H | het unknown | 0.199 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.947 (probably damaging) |
0.5 | HEATR7B2-V496I | homozygous | 0.780 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | HEATR7B2-E468V | het unknown | 0.033 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.025 (benign) |
0.5 | HEATR7B2-W191R | homozygous | 0.786 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | HEATR7B2-M11V | het unknown | 0.216 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.129 (benign) |
0.5 | 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-I723V | het unknown | 0.057 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | LRRK2-S1647T | het unknown | 0.294 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | LRRK2-M2397T | het unknown | 0.526 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | TK2-P33A | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | TK2-K30R | het unknown | 0.270 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
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 | ITGB4-L1779P | homozygous | 0.486 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | 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 | SCN4A-N1376D | homozygous | 0.604 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | SCN4A-S524G | homozygous | 0.938 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | 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 | 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 | BRIP1-S919P | homozygous | 0.652 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DPYD-I543V | het unknown | 0.199 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | DPYD-R29C | homozygous | 0.731 | Complex/Other pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | ENGASE-R321H | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.989 (probably damaging) |
0.5 | DSG3-S771F | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) |
0.5 | DSG3-T912A | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
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 | COL6A2-D227N | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.184 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | COL6A2-S399N | homozygous | 0.727 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | COL6A2-R680H | homozygous | 0.389 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | LSS-L642V | homozygous | 0.789 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | LSS-R614W | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.974 (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 | CCDC40-L752P | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) |
0.5 | GAA-H199R | homozygous | 0.574 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | GAA-R223H | homozygous | 0.606 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | GAA-V780I | homozygous | 0.720 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | LRRIQ3-A558V | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.01 (benign) |
0.5 | LRRIQ3-E434K | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.955 (probably damaging) |
0.5 | LRRIQ3-M129I | het unknown | 0.059 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.819 (possibly damaging) |
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 | KRTAP2-1-R59C | het unknown | 0.040 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.984 (probably damaging) |
0.5 | KRTAP2-1-F10L | het unknown | 0.330 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.914 (probably damaging) |
0.5 | SEC22B-D70Y | het unknown | 0.003 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | SEC22B-T81K | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | SEC22B-R107Q | het unknown | 0.002 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | SEC22B-C129R | het unknown | 0.085 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | SEC22B-R131* | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
0.5 | SEC22B-H189R | het unknown | 0.508 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | HPS4-Q620H | homozygous | 0.806 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | HPS4-H601Y | homozygous | 0.807 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | HPS4-V547M | homozygous | 0.780 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | HPS4-L438V | het unknown | 0.344 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | HPS4-E224G | homozygous | 0.779 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | FANCA-T1328A | het unknown | 0.088 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | FANCA-S1088F | het unknown | 0.036 | Unknown benign | Low clinical importance, uncertain | Probably benign. One report hypothesized this variant causing Fanconi Anemia, but the allele frequency (3-7%) is high enough to contradict a highly penetrant pathogenic effect. Later authors have concluded this is a polymorphism, not pathogenic. |
0.5 | FANCA-G809D | homozygous | 0.671 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | FANCA-P643A | het unknown | 0.103 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | FANCA-G501S | het unknown | 0.654 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | FANCA-A412V | het unknown | 0.093 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | FANCA-T266A | homozygous | 0.708 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | 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 | HP-D70N | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | HP-K71E | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
0.5 | KCNQ2-N780T | homozygous | 0.509 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | NQO1-P187S | het unknown | 0.283 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.215 (possibly damaging) |
0.5 | IL6R-D358A | het unknown | 0.266 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.911 (probably damaging) |
0.5 | CTNS-T260I | homozygous | 0.825 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | PDE4DIP-D1910E | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | PDE4DIP-R1867C | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.999 (probably damaging) |
0.5 | PDE4DIP-A1757T | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
0.5 | PDE4DIP-Q1665Shift | het unknown | 0.328 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift |
0.5 | PDE4DIP-R1504Q | het unknown | 0.904 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | PDE4DIP-R1466G | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.971 (probably damaging) |
0.5 | PDE4DIP-W1396R | het unknown | 0.667 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | PDE4DIP-K1359E | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.028 (benign) |
0.5 | PDE4DIP-A1066T | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.123 (benign) |
0.5 | PDE4DIP-F1013I | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | PDE4DIP-M783I | het unknown | 0.098 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.235 (possibly damaging) |
0.5 | PDE4DIP-C708R | homozygous | 0.900 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
0.5 | PDE4DIP-R681H | het unknown | 0.282 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.997 (probably damaging) |
0.5 | PDE4DIP-W560* | het unknown | 0.269 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Nonsense mutation |
0.5 | PDE4DIP-S536T | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.914 (probably damaging) |
0.5 | PDE4DIP-E410V | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.995 (probably damaging) |
0.5 | PDE4DIP-R295H | het unknown | 0.254 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
0.5 | PDE4DIP-S275L | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.419 (possibly damaging) |
0.5 | PDE4DIP-R25L | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 1.0 (probably damaging) |
0.5 | NR_027052-R29H | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | NR_027052-T53Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.5 | NR_027052-Y63N | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | NR_027052-Q90* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
0.5 | NR_027052-S129G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | ERBB2-I654V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | ERBB2-I655V | homozygous | 0.121 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.18 (benign) |
0.5 | ERBB2-P1170A | homozygous | 0.275 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.983 (probably damaging) |
0.5 | ERBB2-A1216D | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) |
0.5 | PCNT-G704E | homozygous | 0.855 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | PCNT-V1038A | homozygous | 0.847 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | PCNT-A1194T | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.078 (benign), Testable gene in GeneTests |
0.5 | PCNT-N1841S | het unknown | 0.221 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | PCNT-S2191P | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.707 (possibly damaging), Testable gene in GeneTests |
0.5 | PCNT-Q2659H | het unknown | 0.572 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.849 (possibly damaging), Testable gene in GeneTests |
0.5 | PCNT-Q2792R | het unknown | 0.732 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.006 (benign), Testable gene in GeneTests |
0.5 | CCDC34-N298S | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.929 (probably damaging) |
0.5 | CCDC34-E264A | het unknown | 0.139 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.966 (probably damaging) |
0.5 | AMY2B-G319R | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
0.5 | BC127741-E39* | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
0.5 | MFSD6L-P214T | homozygous | 0.241 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.251 (possibly damaging) |
0.5 | MFSD6L-L85I | het unknown | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.914 (probably damaging) |
0.5 | PPM1J-I291T | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.983 (probably damaging) |
0.5 | PPM1J-V236I | homozygous | 0.974 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | SLC19A1-H27R | homozygous | 0.447 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.002 (benign) |
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 | CTDP1-T340M | het unknown | 0.085 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | FUT2-G258S | het unknown | 0.390 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.954 (probably damaging) |
0.5 | HSPG2-V4332I | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | HSPG2-A1503V | het unknown | 0.777 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | HSPG2-Q1294K | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 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 | 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 |
0.5 | 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 |
0.5 | SIX5-TS629ST | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | SIX5-L556V | homozygous | 0.833 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CBR3-V244M | homozygous | 0.398 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.014 (benign) |
0.5 | CEACAM16-L55Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
0.5 | ERCC2-K751Q | het unknown | 0.218 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ERCC2-D312N | het unknown | 0.145 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.032 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | ERCC2-K181T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
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 | ZNF480-C3Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.5 | NLRP12-F402L | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests |
0.5 | FERMT1-R526K | homozygous | 0.468 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | FERMT1-R255C | het unknown | 0.069 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests |
0.5 | FERMT1-I160T | het unknown | 0.106 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.004 (benign), Testable gene in GeneTests |
0.5 | BPIL1-D359H | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.924 (probably damaging) |
0.5 | COL9A3-G17E | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | COL9A3-P296L | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.314 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | 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 |
0.5 | CRLS1-P193L | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.988 (probably damaging) |
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 | AK094748-D110A | het unknown | 0.049 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | AK094748-S209Shift | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
0.5 | DEFB126-P106Shift | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
0.5 | C20orf54-I303V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | C20orf54-T278M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | C20orf54-P267L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | 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 | BCKDHA-P39H | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | TYK2-P1104A | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests |
0.5 | TYK2-V362F | het unknown | 0.268 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
0.5 | COL18A1-V144I | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | COL18A1-V1076I | het unknown | 0.133 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | COL18A1-P1121R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | TSPAN16-S233Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
0.5 | COL5A3-A1488P | het unknown | 0.382 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | COL5A3-R1122H | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
0.5 | COL5A3-R322G | homozygous | 0.925 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
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 | ADAT3-K53E | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.884 (probably damaging) |
0.5 | PEX11G-L216F | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
0.5 | AKR1A1-N52S | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.987 (probably damaging) |
0.5 | MAN2B1-R337Q | homozygous | 0.237 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.027 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | MAN2B1-T312I | homozygous | 0.324 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.045 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | MAN2B1-L278V | het unknown | 0.236 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | LEPRE1-G349R | het unknown | 0.076 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.805 (possibly damaging), Testable gene in GeneTests |
0.5 | LEPRE1-A47S | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | CNKSR1-P284Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
0.5 | ATP4A-V265A | homozygous | 0.676 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | ATP4A-P240H | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.929 (probably damaging) |
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 | UNC13A-L1121P | homozygous | 0.992 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | UNC13A-A447T | het unknown | 0.227 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | UNC13A-A53Shift | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
0.5 | DEM1-L151P | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.948 (probably damaging) |
0.5 | UBASH3A-L28F | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.949 (probably damaging) |
0.5 | UBASH3A-D428E | het unknown | 0.094 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | RASAL3-R594C | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.958 (probably damaging) |
0.5 | TMPRSS3-A90T | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.957 (probably damaging), 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-P49S | het unknown | 0.062 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.928 (probably damaging) |
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 | AGT-M268T | homozygous | 0.733 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | 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-R2155W | homozygous | 0.022 | Unknown benign | Low clinical importance, likely | Probably benign. |
0.5 | HIP1R-C938F | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (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 | TOR1AIP1-M146T | het unknown | 0.583 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | TOR1AIP1-P276R | het unknown | 0.572 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.982 (probably damaging) |
0.5 | TOR1AIP1-Q293H | het unknown | 0.033 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.874 (probably damaging) |
0.5 | KRT83-H493Y | homozygous | 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 | ATRX-Q929E | homozygous | 0.565 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | BEST3-K59Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
0.5 | SACS-V3369A | homozygous | 0.244 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.769 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | 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 | HSPA6-A150T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | HSPA6-ND153SN | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | HSPA6-G447V | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
0.5 | GPR56-S281R | het unknown | 0.750 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | GPR56-Q306H | het unknown | 0.094 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | FANCM-S175F | homozygous | 0.242 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | FANCM-V878L | het unknown | 0.268 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | FANCM-P1812A | het unknown | 0.062 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.958 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | PSMB5-R24C | het unknown | 0.035 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.982 (probably damaging) |
0.5 | FCRLB-T32I | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (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 | DDR2-M441I | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
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 | XIAP-Q423P | homozygous | 0.277 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.053 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | 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 | LAMC2-A200E | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | MEN1-T546A | homozygous | 0.791 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | TCIRG1-L257Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | TCIRG1-Q259L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | AHNAK-Q3003K | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | AHNAK-G2527D | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging) |
0.5 | AHNAK-V1274A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | AHNAK-G596E | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | MS4A14-I56Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.5 | MS4A14-N177Y | homozygous | 0.543 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.981 (probably damaging) |
0.5 | MS4A14-G584R | het unknown | 0.513 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
0.5 | F8-D1260E | homozygous | 0.263 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | PEX16-V167M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 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 | EPHX1-Y113H | het unknown | 0.290 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.997 (probably damaging) |
0.5 | CPT1A-A275T | het unknown | 0.030 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ATM-N1983S | homozygous | 0.991 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | F9-T194A | homozygous | 0.144 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | 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 | 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 | OPN1LW-L153M | homozygous | 0.182 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | OPN1LW-S180A | homozygous | 0.229 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | VWF-F2561Y | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | VWF-T1381A | homozygous | 0.754 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | VWF-Q852R | homozygous | 0.904 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | VWF-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 |
0.5 | CACNA1S-L1800S | het unknown | 0.251 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
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 | CACNA1S-L458H | homozygous | Unknown benign | Low clinical importance, likely | Common polymorphism | |
0.5 | ASPM-L2647I | het unknown | 0.198 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ASPM-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-S2562G | het unknown | 0.212 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ASPM-Y2494H | homozygous | 0.992 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | 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 | DDHD1-G106A | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging) | |
0.5 | SIX6-H141N | homozygous | 0.314 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | ADAMTSL3-H146R | het unknown | 0.706 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.04 (benign) |
0.5 | ADAMTSL3-L290V | homozygous | 0.833 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | ADAMTSL3-V661L | het unknown | 0.711 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
0.5 | ADAMTSL3-L869F | het unknown | 0.272 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.148 (benign) |
0.5 | ADAMTSL3-T1660I | het unknown | 0.106 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
0.5 | ALPK3-T414S | het unknown | 0.155 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.436 (possibly damaging) |
0.5 | ALPK3-G579E | het unknown | 0.149 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.961 (probably damaging) |
0.5 | ALPK3-P1299L | homozygous | 0.827 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | ALPK3-A1557D | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.009 (benign) |
0.5 | ALPK3-L1622P | homozygous | 0.136 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.895 (probably damaging) |
0.5 | ALPK3-K1838Q | het unknown | 0.020 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.949 (probably damaging) |
0.5 | BBS4-I354T | homozygous | 0.399 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | 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 | SLC28A2-P22L | het unknown | 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 | 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 | GON4L-T1545Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.5 | GON4L-M1544Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.5 | FANCI-A86V | homozygous | 0.219 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | FANCI-C742S | homozygous | 0.234 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | GTF3C1-R1630H | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
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 | 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 | TNRC6A-Q1112H | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
0.5 | ERCC4-R415Q | het unknown | 0.030 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
0.5 | GFER-F166L | het unknown | 0.035 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | PKD1-H2638R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | PKD1-V1339M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | PKD1-L950P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | PKD1-HC507QP | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | MYH9-I1626V | homozygous | 0.289 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | MYH9-L46F | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | TRIOBP-S217N | homozygous | 0.413 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests |
0.5 | TRIOBP-Q398Del | het unknown | 0.308 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | TRIOBP-K413R | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
0.5 | TRIOBP-S540Del | het unknown | 0.114 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | TRIOBP-N863K | het unknown | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests |
0.5 | TRIOBP-P1030R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests |
0.5 | TRIOBP-F1187L | het unknown | 0.320 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests |
0.5 | TRIOBP-H1300R | het unknown | 0.431 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.006 (benign), Testable gene in GeneTests |
0.5 | TRIOBP-W1377R | homozygous | 0.964 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.084 (benign), Testable gene in GeneTests |
0.5 | KCNJ10-R18Q | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.454 (possibly damaging), Testable gene in GeneTests |
0.5 | MLH3-P844L | het unknown | 0.298 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | MLH3-N826D | homozygous | 0.981 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | 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 | PPARA-L162V | het unknown | 0.012 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.013 (benign) |
0.5 | RNF207-N573S | het unknown | 0.474 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | RNF207-G603A | het unknown | 0.165 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign) |
0.5 | YLPM1-P254L | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.981 (probably damaging) |
0.5 | SYNE2-R1393W | het unknown | 0.036 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.54 (possibly damaging), Testable gene in GeneTests |
0.5 | SYNE2-M1969T | homozygous | 0.637 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests |
0.5 | SYNE2-A2284V | homozygous | 0.637 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests |
0.5 | SYNE2-S2359N | homozygous | 0.676 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests |
0.5 | SYNE2-A2395T | homozygous | 0.835 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | SYNE2-S2802G | homozygous | 0.864 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.012 (benign), Testable gene in GeneTests |
0.5 | SYNE2-I2942V | homozygous | 0.622 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | SYNE2-D3253H | homozygous | 0.684 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests |
0.5 | SYNE2-H3309R | homozygous | 0.647 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
0.5 | SYNE2-E4913K | het unknown | 0.030 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.251 (possibly 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 | ZFYVE26-N1891S | homozygous | 0.900 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | ZFYVE26-T898S | het unknown | 0.046 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests |
0.5 | SLAMF1-P333T | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
0.5 | SPTBN5-L3460R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | SPTBN5-A3240G | het unknown | 0.197 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | SPTBN5-Y2922H | het unknown | 0.078 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | SPTBN5-Q2827R | het unknown | 0.494 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | SPTBN5-G2786R | het unknown | 0.182 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | SPTBN5-T2678I | het unknown | 0.221 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | SPTBN5-R2081Q | het unknown | 0.991 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | SPTBN5-R1848* | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
0.5 | SPTBN5-R1310H | het unknown | 0.139 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | SPTBN5-V1025I | het unknown | 0.201 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | SPTBN5-C1000R | homozygous | 0.859 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | SPTBN5-Q960H | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | SPTBN5-H398R | homozygous | 0.870 | 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-R102* | het unknown | 0.026 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
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 | TUBGCP6-R1763W | het unknown | 0.020 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) |
0.5 | TUBGCP6-V1621L | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | TUBGCP6-T1377A | homozygous | 0.408 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
0.5 | TUBGCP6-L567S | homozygous | 0.860 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.012 (benign) |
0.5 | PLA2G4D-R807Q | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.976 (probably damaging) |
0.5 | PLA2G4D-R783Q | het unknown | 0.054 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.01 (benign) |
0.5 | PLA2G4D-A649G | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | PLA2G4D-K639Q | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | PLA2G4D-Y627C | het unknown | 0.062 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | PLA2G4D-R601H | het unknown | 0.062 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
0.5 | PLA2G4D-S434T | het unknown | 0.266 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.064 (benign) |
0.5 | PLA2G4D-P275R | het unknown | 0.250 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | PLA2G4D-P10T | het unknown | 0.080 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.11 (benign) |
0.5 | ZFYVE19-R48Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
0.5 | ZFYVE19-S376A | homozygous | 0.814 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
0.5 | BDNF-V148M | het unknown | 0.208 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
0.5 | FHAD1-R182H | het unknown | 0.229 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | FHAD1-E919G | het unknown | 0.259 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.014 (benign) |
0.5 | FHAD1-M1262V | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.99 (probably damaging) |
0.5 | FHAD1-I1325V | het unknown | 0.474 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | BAHD1-E26G | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.983 (probably damaging) |
0.5 | BAHD1-Q298K | het unknown | 0.706 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.16 (benign) |
0.375 | MMP9-Q279R | het unknown | 0.477 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.375 | MMP9-C373* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
0.375 | MMP9-R574P | homozygous | 0.813 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.375 | EVC-Y258H | het unknown | 0.721 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests |
0.375 | EVC-F583S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.375 | EVC-E585G | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.063 (benign), Testable gene in GeneTests |
0.375 | THBD-P501L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.375 | THBD-A473V | het unknown | 0.117 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.375 | TMEM67-I604V | het unknown | 0.710 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.375 | TMEM67-P721S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.25 | ALG1L2-T84A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | ALG1L2-L157Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | COL11A1-S1547P | het unknown | 0.752 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | COL11A1-P1335L | het unknown | 0.479 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | CDA-K27Q | het unknown | 0.190 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.25 | GLI2-A1156S | het unknown | 0.536 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | GLI2-D1306N | het unknown | 0.595 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | MYO7B-G21S | het unknown | 0.461 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | MYO7B-V1348A | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.006 (benign) |
0.25 | MYO7B-E1350L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | MYO7B-L1351Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | MYO7B-E1647D | het unknown | 0.137 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.136 (benign) |
0.25 | MYO7B-Q2105R | het unknown | 0.169 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.949 (probably damaging) |
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 | 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 | ALMS1-S524SP | het unknown | 0.578 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | ALMS1-V671G | het unknown | 0.857 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | ALMS1-S2574N | het unknown | 0.144 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | ALMS1-D2672H | het unknown | 0.136 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | ALMS1-R4029K | het unknown | 0.527 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | FMO3-E158K | het unknown | 0.374 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | COG2-I146Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | COG2-I346V | het unknown | 0.076 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
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 | 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 | CEP350-E945Q | homozygous | 0.586 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.168 (benign) |
0.25 | CEP350-D1804Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | 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 |
0.25 | GPATCH4-F357Shift | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift |
0.25 | GPATCH4-A151Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | UBQLN4-A503Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | UBQLN4-I495M | het unknown | 0.416 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
0.25 | GBE1-I334V | het unknown | 0.979 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | MYH15-T1125A | het unknown | 0.180 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.007 (benign) |
0.25 | MYH15-H1015D | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | MYH15-H504Y | homozygous | 0.578 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.997 (probably damaging) |
0.25 | DRD3-G9S | het unknown | 0.482 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
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 | POLQ-A2547V | het unknown | 0.044 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.25 | POLQ-Q2513R | homozygous | 0.734 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | POLQ-I1421Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | POLQ-H1201R | het unknown | 0.306 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | POLQ-K1025Del | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | POLQ-T982R | het unknown | 0.703 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | POLQ-R66I | homozygous | 0.973 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | POMGNT1-M623V | homozygous | 0.878 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | POMGNT1-W612R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.25 | LEPR-Q223R | het unknown | 0.569 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.484 (possibly damaging), Testable gene in GeneTests |
0.25 | GBA-K144R | het unknown | 0.619 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | GBA-R140W | het unknown | 0.357 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | CTLA4-T17A | het unknown | 0.463 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign) |
0.25 | ATIC-T116S | het unknown | 0.184 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign) |
0.25 | KBTBD5-N345S | het unknown | 0.609 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | KBTBD5-L618Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | KBTBD5-C617R | het unknown | 0.901 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | COL6A3-A3012P | het unknown | 0.843 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | COL6A3-M2927T | het unknown | 0.674 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | 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 | CALHM1-L86P | het unknown | 1.000 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.25 | FREM2-S745P | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | FREM2-F1070S | het unknown | 0.527 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | FREM2-T3013M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
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 | 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 | KRT6C-R182Q | het unknown | 0.281 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.805 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.25 | IRS2-G1057D | het unknown | 0.232 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.024 (benign) |
0.25 | TEP1-I2486M | het unknown | 0.373 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | TEP1-V2214I | het unknown | 0.326 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | DUOX2-S1067L | homozygous | 0.662 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | DUOX2-P303R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.25 | DUOX2-P138L | homozygous | 0.926 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | SPG11-F463S | het unknown | 0.470 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | XRCC3-T241M | het unknown | 0.218 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.188 (benign) |
0.25 | MYH6-V1101A | het unknown | 0.422 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | SERPINA1-V237A | het unknown | 0.293 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | 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 | SLCO1B3-S112A | het unknown | 0.646 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.25 | SLCO1B3-M233I | het unknown | 0.659 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.131 (benign) |
0.25 | SMPD1-G508R | het unknown | 0.151 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | TRIM5-G249D | het unknown | 0.278 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | TRIM5-A168Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | H19-G355R | het unknown | 0.359 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | H19-V94I | het unknown | 0.361 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | H19-W38R | het unknown | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | OPA1-S158N | het unknown | 0.482 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
0.25 | PDHX-R15C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.25 | PDHX-R23C | het unknown | 0.210 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | PDHX-R24G | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.055 (benign), Testable gene in GeneTests |
0.25 | ALX4-P102S | het unknown | 0.217 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | ALX4-R35T | het unknown | 0.393 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.25 | 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-P480L | het unknown | 0.151 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.977 (probably damaging) |
0.25 | SNX19-S407G | het unknown | 0.202 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | SNX19-D396E | het unknown | 0.151 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | SNX19-G381S | het unknown | 0.151 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
0.25 | SNX19-V361L | het unknown | 0.671 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | DPAGT1-I393V | het unknown | 0.431 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | DYNC2H1-R2871Q | homozygous | 0.705 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | DYNC2H1-F4310L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.25 | PTPRJ-Q276P | het unknown | 0.173 | Complex/Other not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.007 (benign) |
0.25 | PTPRJ-R326Q | het unknown | 0.249 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.004 (benign) |
0.25 | PTPRJ-E872D | het unknown | 0.368 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.047 (benign) |
0.25 | MYO7A-L16S | het unknown | 0.550 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | SLC28A1-L140LV | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | SLC28A1-V189I | het unknown | 0.313 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.25 | SLC28A1-Q237K | het unknown | 0.241 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | SLC28A1-D521N | het unknown | 0.226 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.25 | DHODH-K7Q | het unknown | 0.560 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.004 (benign) |
0.25 | TDRD12-K413E | homozygous | 0.603 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | TDRD12-S553Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | TDRD12-T748M | homozygous | 0.087 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.983 (probably damaging) |
0.25 | TDRD12-Q1117L | homozygous | 0.086 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | CYP4F2-V433M | het unknown | 0.216 | Recessive pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.309 (possibly damaging) |
0.25 | CYP4F2-W12G | het unknown | 0.058 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
0.25 | NOTCH3-A2223V | het unknown | 0.553 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | 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 | CD3EAP-K428Del | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | CD3EAP-Q504K | het unknown | 0.284 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.002 (benign) |
0.25 | SLC8A2-G336Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | SLC8A2-V335L | het unknown | Unknown | 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 | 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 | 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 | FPR1-E346A | het unknown | 0.800 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | FPR1-N192K | het unknown | 0.516 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | FPR1-I11T | het unknown | 0.831 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.25 | SALL4-I798L | het unknown | 0.100 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
0.25 | RAX-D44E | het unknown | 0.189 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
0.25 | DSG2-R773K | het unknown | 0.221 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
0.25 | MPDU1-A229T | het unknown | 0.188 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | 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 | YBX2-R280Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | YBX2-S63P | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.017 (benign) | |
0.25 | YBX2-G9V | homozygous | 0.912 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | LRRC50-L659V | het unknown | 0.112 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
0.25 | 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 | LRRC48-R191W | het unknown | 0.578 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | LRRC48-R444Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | DSC2-I776V | het unknown | 0.223 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | SGSH-R456H | het unknown | 0.302 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | SGSH-G251A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.25 | ACOX1-I312M | homozygous | 0.492 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | ACOX1-R6C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.25 | SLFN12L-Y412C | het unknown | 0.804 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | SLFN12L-N233Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
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 | GPR123-G55S | het unknown | 0.656 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | GPR123-R60G | het unknown | 0.653 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | GPR123-A218P | het unknown | 0.585 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | GPR123-G496Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | GPR123-R539G | het unknown | 0.600 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | GARS-P42A | het unknown | 0.654 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | SLC22A16-H49R | het unknown | 0.333 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 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 |
0.25 | 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 | 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 | PDE6C-S270T | het unknown | 0.419 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | FAM20C-I320Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | FAM20C-N564D | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | PARK2-S167N | het unknown | 0.143 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | SLC22A2-S270A | het unknown | 0.876 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.25 | PLG-D472N | het unknown | 0.151 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.25 | IP6K3-I368Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | IP6K3-V312I | het unknown | 0.452 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.782 (possibly damaging) |
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 | GFM2-R573H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | GFM2-L415Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | GHR-I544L | het unknown | 0.473 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests |
0.25 | TLR6-S249P | het unknown | 0.855 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.25 | DOK7-G461D | het unknown | 0.128 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.565 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.25 | TLR1-S602I | het unknown | 0.727 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.25 | TLR1-H305L | het unknown | 0.026 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.318 (possibly damaging) |
0.25 | TLR1-N248S | het unknown | 0.643 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
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 | 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 | MICA-L145V | het unknown | 0.191 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | MICA-G198S | het unknown | 0.337 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | MICA-T204R | het unknown | 0.008 | 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 | HLA-C-A366Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | HLA-C-T363A | het unknown | 0.727 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | HLA-C-C350S | het unknown | 0.730 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.009 (benign) |
0.25 | HLA-C-TAM329AVV | het unknown | 0.224 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | HLA-C-V327M | het unknown | 0.089 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | HLA-C-Q291P | het unknown | 0.605 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | HLA-C-M285V | het unknown | 0.712 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | HLA-C-R243W | het unknown | 0.259 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | HLA-C-S140F | het unknown | 0.316 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
0.25 | HLA-C-D138N | het unknown | 0.184 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | HLA-C-K90N | het unknown | 0.119 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
0.25 | HLA-C-S48A | het unknown | 0.851 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | HLA-C-R38W | het unknown | 0.056 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
0.25 | HLA-C-A35S | het unknown | 0.137 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | HLA-C-D33S | het unknown | 0.100 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | CDSN-N527D | homozygous | 0.849 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | CDSN-L410S | het unknown | 0.699 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | CDSN-S408A | het unknown | 0.162 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | CDSN-N143S | homozygous | 0.848 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | CDSN-M18L | het unknown | 0.298 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.25 | 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 | TRIM15-S324N | het unknown | 0.155 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.25 | IQCE-V301Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | IQCE-L666V | het unknown | 0.416 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | IQCE-T690M | het unknown | 0.057 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.966 (probably damaging) |
0.25 | NBN-E185Q | het unknown | 0.338 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | FKTN-R203Q | het unknown | 0.177 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.166 (benign), Testable gene in GeneTests with associated GeneReview |
0.25 | KANK1-E432Q | het unknown | 0.145 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.009 (benign) |
0.25 | KANK1-A654D | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | KANK1-Y845Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | KANK1-S846R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | GPT-H14N | het unknown | 0.363 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | NPSR1-N107I | het unknown | 0.462 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
0.25 | NPSR1-S143G | het unknown | 0.013 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.796 (possibly damaging) |
0.25 | NPSR1-Q344R | het unknown | 0.309 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | SVEP1-K3383Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | SVEP1-S3127P | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.157 (benign) |
0.25 | SVEP1-T1878I | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.83 (possibly damaging) |
0.25 | SVEP1-M1444L | het unknown | 0.352 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
0.25 | SVEP1-K1416Q | het unknown | 0.090 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
0.25 | SVEP1-K899R | homozygous | 0.178 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | SVEP1-D693E | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.031 (benign) |
0.25 | SVEP1-V507I | het unknown | 0.282 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.778 (possibly damaging) |
0.25 | CHD5-S1539P | het unknown | 0.716 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | CHD5-I612M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | CHD5-E87Shift | 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 | PCDH15-D440A | het unknown | 0.343 | 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 | C10orf113-D100H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | C10orf113-R62G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | C10orf113-S22Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
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 | homozygous | 0.344 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | TG-D1838N | homozygous | 0.304 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.061 (benign), Testable gene in GeneTests |
0.25 | TG-R1999W | het unknown | 0.372 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | TG-R2530Q | het unknown | 0.586 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
0.25 | NOS3-D298E | het unknown | 0.844 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
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 | ABCB1-S893A | het unknown | 0.625 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
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 | 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 | PON2-S311C | het unknown | 0.258 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | PON2-A148G | het unknown | 0.257 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
0.25 | CHRNA2-T125A | het unknown | 0.644 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | CHRNA2-T22I | het unknown | 0.256 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | GPR124-C417CRDITRV | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | GPR124-N421Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | EPHX2-R287Q | het unknown | 0.148 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 1.0 (probably damaging) |
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 | MBL2-G54D | het unknown | 0.102 | Recessive pathogenic | Low clinical importance, likely | This variant is associated with mannose binding protein deficiency which leads to impaired complement system immune response to mannose-rich pathogens. Patients homozygous for this allele or compound heterozygous are likely to have increased susceptibility to infection, but Hellemann et al. report heterosis for intensive care outcomes in heterozygous subjects. The wild-type version of this gene is known as variant allele A, while this is called variant allele B. See R52C (variant D) and G57E (variant C). |
0 | CREBBP-P1878Shift | 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. |
0 | COL5A1-Q547Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
0 | HFE-C282Y | het unknown | 0.018 | Recessive pathogenic | Low clinical importance, well-established | This variant is associated with hereditary haemochromatosis, 80% of patients with that disease are homozygous for this variant. However, the penetrance is low, in Beutler et al. they note that only 1 of their 158 homozygotes met criteria for diagnosis with the condition. |
0 | PRPH-D141Y | het unknown | Recessive pathogenic | High clinical importance, uncertain | Associated with ALS in a recessive manner, may cause the disease or susceptibility to it when homozygous. Very rare, was seen homozygously in 1 out of 30 ALS cases. The mutant protein forms abnormal aggregates. |
Input file format: CGIVAR
Genome build: b37
Genome coverage: 2,758,097,038 bases (96.5% of callable positions, 89.5% of total positions)
Coding region coverage: 32,796,288 bases (98.5% of all genes, 99.1% of genes with clinical testing available)
Chromosomes: chr1, chr10, chr11, chr12, chr13, chr14, chr15, chr16, chr17, chr18, chr19, chr2, chr20, chr21, chr22, chr3, chr4, chr5, chr6, chr7, chr8, chr9, chrM, chrX, chrY