anonymous WGS - GET-Evidence variant report

Variant report for anonymous WGS

Log file: 




VariantClinical
Importance
ImpactAllele
freq
Summary
1CRB1-V162MHighUncertainUncertain pathogenic

Dominant, Heterozygous
0.000836586Very rare, reported to cause pigmented paravenous chorioretinal atrophy in a dominant manner, with variable effect -- some carriers asymptomatic, while another had vision loss in early 30s. Only one family reported. This variant had a strong association with the disease in that family, but different publication concluded the variant is benign and does not segregate with disease.1
2ITGB2-G273RHighUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
Reported to cause leukocyte adhesion deficiency in a recessive manner. Only one case reported. This variant appears to be too rare to establish statistical significance for this association, but the variant gene fails to produce product when studied in vitro.1
3C3-R102GModerateLikelyLikely pathogenic

Complex/Other, Heterozygous
0.152073This variant (also called C3F) is common in Europeans (10.2% allele frequency), and is associated with age-related macular degeneration. In the US, 1.5% of adults over 40 have the disease, but the incidence increases strongly with age (>15% in women over 80). Assuming an average lifetime risk of ~10%, heterozygous individuals have a ~13% risk and homozygous have ~20%.1
4PPARG-P12AModerateUncertainUncertain not reviewed

Unknown, Heterozygous
0.08867821
5COL4A1-Q1334HLowLikelyLikely pathogenic

Dominant, Heterozygous
0.324689This common variant has been associated with arterial stiffness and, in Japanese, a small increased risk of myocardial infarction (MI, a.k.a. heart attack). This last observation supported a dominant effect for this variant and, assuming a lifetime risk of 15% for MI, we estimate carriers have an additional risk of 0.5-3%.1
6KRT5-G138ELowLikelyLikely pathogenic

Unknown, Heterozygous
0.0521472This variant is associated with 1.25x increased risk of basal cell carcinoma (common skin cancer, rarely malignant).1
7H6PD-R453QLowUncertainUncertain pathogenic

Recessive, Homozygous
0.308886This common variant may have a small pathogenic effect by contributing to cortisone reductase deficiency (a rare abnormality) when homozygous and combined with a serious pathogenic variant. The same authors have tested and ruled out a contribution to polycystic ovary syndrome (similar phenotype, more common disease).1
8RNASEL-R462QLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.278026Associated 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
9ELAC2-S217LLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.273471Reported 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
10ERCC6-R1213GLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.196877When homozygous, this variant may cause Cockayne Syndrome, which is a severe autosomal-recessive disorder characterized by abnormal early growth and development, abnormal sensitivity to sunlight, and premature aging. Cockayne Syndrome Type I and Type II lead to death in early childhood. Several other variants in the ERCC6 gene are linked to Cockayne Syndrome. This variant may also be linked to age-related macular degeneration like other ERCC6 variants, and has been linked to colorectal cancer in one study. 1
11WFS1-R611HLowUncertainUncertain not reviewed

Recessive, Carrier (Heterozygous)
0.400446This 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
12TP53-P72RLowUncertainUncertain pathogenic

Unknown, Heterozygous
0.627743This is a common variant was first reported as a polymorphism. It has since had mixed associations with cancer: Storey et al. conclude a 7x *increased* risk of HPV cancer for homozygotes vs hets, but Jones et al. find a 1.98x *decreased* risk for colorectal cancer. This variant may have significant impact on particular cancers, but it is unclear what effect it has on the overall burden of cancer.1
13SP110-L425SLowUncertainUncertain pathogenic

Unknown, Homozygous
0.863357This 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
14HFE-H63DLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.109965There have been some hypotheses that this variant contributes to causing hereditary hemochromatosis, possibly as a compound heterozygote, but some others treat it as a polymorphism. Cys282Tyr is the classic causal variant and itself has very low penetrance. Mouse studies indicates this variant has a similar but weaker effect; if it has any effect at all its penetrance may be quite low and/or require modifier alleles.1
15DYX1C1-E417XLowUncertainUncertain pathogenic

Unknown, Heterozygous
0.20147One study reports this variant to be associated with dyslexia. The study group was relatively small and so the results did not have strong significance. If they are representative this variant is associated with a doubled risk for dyslexia, but it is unclear whether the effect would be additive, dominant, or recessive.1
16CYP2C9-R144CModerateWell-establishedWell-established pharmacogenetic

Unknown, Heterozygous
0.0970982This 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
17FUT2-W154XModerateWell-establishedWell-established protective

Recessive, Carrier (Heterozygous)
0.490519This recessive protective variant confers resistance to norovirus (which causes stomach flu). 20% of Caucasians and Africans are homozygous for this variant and are "non-secretors": they do not express ABO blood type antigens in their saliva or mucosal surfaces. Most strains of norovirus bind to these antigens in the gut, and so this non-secretor status confers almost total resistantance to most types of norovirus. There are notable exceptions, some strains of norovirus bind a different target and are equally infectious for secretors and non-secretors.1
18PRNP-M129VLowWell-establishedWell-established protective

Complex/Other, Heterozygous
0.339561This 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
19CFH-V62ILowLikelyLikely protective

Complex/Other, Heterozygous
0.391616Associated 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
20NPC1-H215RLowLikelyLikely protective

Complex/Other, Heterozygous
0.295687This 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
21IL7R-T244ILowLikelyLikely protective

Unknown, Heterozygous
0.210169The reference genome variant for this allele has been associated with a slight increased risk of multiple sclerosis. Thus, this variant can be treated as a "protective" variant -- carriers of this variant are slightly less likely to have MS. Because the disease is rare and the effect of this variant is not very strong, the absolute decreased risk for carriers of this variant is less than .05% (less than 1 in 2000).1
22KCNJ11-K23ELowLikelyLikely protective

Unknown, Homozygous
0.738148This 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
23TOR1A-D216HLowLikelyLikely protective

Unknown, Heterozygous
0.102993This SNP has been shown to be benign and play a protective role against Dystonia. 1
24LIG4-A3VLowUncertainUncertain protective

Dominant, Heterozygous
0.035843One report has associated this with a decreased risk of multiple myeloma.1
25IRS2-G1057DLowUncertainUncertain protective

Unknown, Heterozygous
0.232615a.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
26ARSA-N350SLowWell-establishedWell-established benign

Unknown, Heterozygous
0.183199This common variant (HapMap 24.1% allele frequency) causes a loss of a glycosylation site (affecting the size of the protein when studied with gel electrophoresis) but does not affect enzyme activity or stability.1
27FANCA-M717ILowLikelyLikely benign

Unknown, Heterozygous
0.0216583Rare polymorphism, not considered pathogenic.1
28HTRA2-A141SLowLikelyLikely benign

Unknown, Heterozygous
0.016814Probably benign. One report proposed an association with increased risk for Parkinson's disease, but had very weak statistical significance. A later study found an equal incidence of this variant in cases and controls, contradicting any association with the disease.1
29CACNA1S-L458HLowLikelyLikely benign

Unknown, Homozygous
0.27282Common polymorphism1
30OCA2-R419QLowLikelyLikely benign

Unknown, Heterozygous
0.0565161This variant is associated with eye color, as is OCA2 R305W. Individuals with this variant are reported to be more likely to have green/hazel eyes as opposed to blue/gray eyes. Other variants in this gene are associated with oculocutaneous albinism (albinism which involves skin and eyes).1
31PKD1-A4059VLowLikelyLikely benign

Unknown, Heterozygous
0.0570413Probably benign.1
32PMS2-P470SLowLikelyLikely benign

Unknown, Heterozygous
0.374884Benign, common variant.1
33FBN2-S2580LLowUncertainUncertain benign

Dominant, Heterozygous
0.0779885Probably benign -- initially associated with congenital contractual arachnodactyly, but later reports classify it as a nonpathogenic polymorphism.1
34USH2A-V230MLowUncertainUncertain benign

Recessive, Carrier (Heterozygous)
0.0157092This rare variant may be associated with Usher Syndrome II, but the literature seems to have concluded that it is a non-pathogenic polymorphism (including authors who earlier reported it as pathogenic).1
35APOB-Y1422CLowUncertainUncertain benign

Unknown, Homozygous
0.999628This position is almost certainly an error in the HG18 reference sequence. 1
36ABCC11-G180RLowUncertainUncertain benign

Unknown, Heterozygous
0.0976947This variant is associated with dry type ear wax (a benign trait) in a recessive manner.1
37SDHB-S163PLowUncertainUncertain benign

Unknown, Heterozygous
0.0104109We evaluate as uncertain but presumed benign. One report linked this variant to Cowden-like syndromes, but the significance of their findings is unclear and other reports treat this as a non-pathological variation.1
38TYR-S192YLowUncertainUncertain benign

Unknown, Heterozygous
0.270682This 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
39GAA-D91NLowUncertainUncertain benign

Recessive, Carrier (Heterozygous)
0.0237033This is a rare but non-pathogenic coding polymorphism in GAA that creates variant allozyme, known as GAA*2. 1
40SPTA1-A970DLowUncertainUncertain benign

Unknown, Heterozygous
0.0373134This variant, also called alpha-IIa, has been seen frequently in individuals with recessive Hereditary spherocytosis. This appears to be the result of linkage to alpha-LEPRA (a C>T substitution at position -99 of intron 30); A970D is later reported as functionally neutral.1
41PTCH1-P1315LLowUncertainUncertain benign

Unknown, Heterozygous
0.29631Common polymorphism, presumed benign.1
42GUCY2D-A52SLowUncertainUncertain benign

Recessive, Carrier (Heterozygous)
0.21016One 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
43PCSK9-G670ELowUncertainUncertain benign

Unknown, Homozygous
0.888269This variant is likely benign. 1
44SLC45A2-L374FLowUncertainUncertain benign

Unknown, Homozygous
0.691764Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma.1
45ELN-G581RLowUncertainUncertain benign

Unknown, Heterozygous
0.072876Probably a benign SNP, not rare (4.8% allele frequency in GET-Evidence data).1
46CD19-R514HLowUncertainUncertain benign

Unknown, Heterozygous
0.0482432Presumed benign.1
47MAPT-R370WLowUncertainUncertain benign

Unknown, Heterozygous
0.155549Probably benign.1
48TPCN2-G734ELowUncertainUncertain benign

Unknown, Heterozygous
0.286166Pigmentation allele.1
VariantPrioritization scoreAllele
freq
Num of
articles
Zygosity and Prioritization Score Reasons

Exome coverage: 32948437 / 33282720 = 99.00%

GeneChromosomeCoverageMissingLengthMissing regions
1AGRN10.965461062235262126138955553-955560, 955569, 955584-955589, 955591-955592, 955600-955604, 955630, 955647-955655, 955658, 955665-955670, 955673-955675, 976685-976691, 981888-981895, 981947-981957, 983602-983656, 983659-983745, 986833-986834
2GABRD10.967623252391464413591950865-1950881, 1950885, 1950892-1950915, 1950921-1950922
3PEX1010.96636085626911339812337923-2337955
4ESPN10.8393762183235941225656488301-6488336, 6488377-6488392, 6488426-6488432, 6500482-6500488, 6500709-6500734, 6500750-6500791, 6500829-6500868, 6501029-6501065, 6501097-6501103, 6505776-6505820, 6505849-6505868, 6505888-6505921, 6508701-6508733, 6508760-6508766, 6511907-6511933, 6512127-6512154
5PLEKHG510.986202571338984431896534092-6534097, 6534102-6534105, 6534114, 6534129-6534133, 6534216-6534222, 6534538-6534541, 6534552, 6534556, 6534564-6534568, 6534576-6534581, 6557380-6557383
6KIF1B10.9949181253529127531310381806, 10425549-10425557, 10425584-10425600
7TARDBP10.9654618473895643124511073983-11073994, 11082322-11082345, 11082660-11082666
8MTHFR10.997970573313044197111853983-11853986
9CLCNKA10.9898255813953521206416349191-16349197, 16354391-16354397, 16358268-16358274
10CLCNKB10.9927325581395315206416373044-16373050, 16383398-16383405
11ATP13A210.998306519898396354317322608-17322611, 17322614, 17322619
12ALPL10.998730158730162157521903904-21903905
13HSPG210.99521857923497631317622263648-22263710
14WNT410.9270833333333377105622469339-22469415
15FUCA110.998572448251252140124194499-24194500
16LDLRAP110.99568500539374492725870205-25870208
17SEPN110.89028776978417183166826126722-26126904
18KCNQ410.999042145593872208841249774, 41249785
19CLDN1910.985185185185191067543201567-43201573, 43201578-43201580
20POMGNT110.997982854261224198346660237-46660240
21STIL10.999482803206622386747726098-47726099
22DHCR2410.99935525467441155155352602
23PCSK910.9995189995191207955521826
24ALG610.9810457516339929153063885083-63885111
25LEPR10.9962835906232113349866088589-66088601
26ACADM10.997652582159623127876228444-76228446
27GLMN10.998319327731093178592732011-92732013
28RPL510.970917225950782689493303118-93303141, 93307336-93307337
29DPYD10.9821312540610855307897847949-97847990, 97847994-97848006
30AGL10.9980430528375794599100342126-100342129, 100342140-100342142, 100342152-100342153
31DBT10.995169082125671449100700992-100700996, 100701041, 100701064
32COL11A110.973428623785961455457103364222-103364225, 103364235-103364256, 103364265-103364273, 103364285-103364287, 103364295-103364301, 103364326-103364329, 103364545, 103412405-103412408, 103435775-103435828, 103470182-103470207, 103488325-103488332, 103548516-103548517, 103548525
33GSTM110.40030441400304394657110230496-110230531, 110230792-110230816, 110230839, 110230854, 110230859, 110231295-110231317, 110231670-110231674, 110231688-110231696, 110231714, 110231724, 110231847-110231947, 110232893-110232988, 110233076-110233163, 110235877, 110235882, 110235886-110235888, 110235892
34HSD3B210.9937444146559471119119965218-119965224
35NOTCH210.979908306364621497416120539665-120539714, 120539739-120539745, 120539778-120539784, 120539913-120539939, 120547962-120547968, 120548051, 120548091-120548097, 120572544-120572575, 120612000-120612010
36FLG10.99934350894469812186152276726, 152278431-152278437
37GBA10.98634388578523221611155204991-155205011, 155205043
38NTRK110.9983270598076142391156830727-156830729, 156830787
39MPZ10.9832689832689813777161276157-161276164, 161276175-161276178, 161276183
40TBX1910.999257609502611347168274317
41F510.9914606741573576675169510269-169510275, 169510338-169510370, 169510377-169510383, 169510502, 169510515, 169510524, 169510634-169510640
42DARS210.99484004127967101938173802531-173802539, 173802582
43HMCN110.99994085639934116908186036966
44PDC10.9541160593792234741186418531-186418534, 186418562-186418591
45CFH10.997835497835583696196648823, 196658740-196658744, 196706730, 196706742
46CFHR110.998992950654581993196797357
47CFHR510.9970760233918151710196967373, 196967377-196967380
48ASPM10.99980831895726210434197069686-197069687
49LAMB310.99602159704461143519209806417-209806430
50USH2A10.996732654237945115609215916523-215916566, 215916588-215916594
51GJC210.95757575757576561320228345686, 228346037, 228346046, 228346060, 228346087-228346088, 228346343, 228346345-228346360, 228346365-228346368, 228346372-228346376, 228346400-228346407, 228346411, 228346417-228346430, 228346434
52GNPAT10.9960841899167982043231396396-231396403
53LYST10.992635455023678411406235875357, 235875468-235875497, 235897821-235897836, 235907290-235907294, 235907300, 235907304-235907308, 235907315-235907324, 235950510-235950518, 235950537-235950543
54MTR10.9994734070563523798237024425-237024426
55RYR210.998322597960282514904237656380, 237821244-237821246, 237881770-237881772, 237881805-237881808, 237972259-237972272
56CUBN100.99889624724062121087216877156-16877163, 17146559-17146562
57PDSS1100.997596153846153124826994240, 26994247, 26994303
58RET100.9907324364723531334543572714-43572717, 43572724-43572750
59ERCC6100.997991967871499448250740792-50740793, 50740796-50740802
60CHAT100.93101913662661155224750822270-50822424
61PCDH15100.99881134318227588955719492-55719496, 56138701-56138702
62CDH23100.9994033412887861005673567280-73567281, 73567290-73567293
63VCL100.9967694566813511340575874614-75874624
64BMPR1A100.995622263914957159988683143-88683149
65PAX2100.9992301770592811299102587335
66HPS6100.999570446735412328103827020
67COL17A1100.99688473520249144494105816793, 105816799-105816803, 105816806-105816807, 105816810-105816815
68EMX2100.990777338603437759119302852-119302858
69HTRA1100.97366597366597381443124221169-124221173, 124221183-124221184, 124221191, 124221224, 124221231-124221256, 124221312, 124221364, 124221374
70SLC25A22110.9855967078189314972792614, 792623-792630, 792635, 792639-792642
71KCNQ1110.99950763170852120312466482
72CDKN1C110.818086225026291739512905912, 2905927, 2905934-2905938, 2905945-2905946, 2905960-2905963, 2905969-2905974, 2906072, 2906089-2906140, 2906163-2906176, 2906178-2906235, 2906253, 2906397-2906404, 2906409-2906421, 2906439-2906445
73SBF2110.999819819819821555010014062
74USH1C110.998148148148155270017531123-17531126, 17531296
75HPS5110.9958702064896814339018313477-18313490
76SLC6A5110.9928989139515517239420668404-20668420
77ANO5110.9733770970094873274222276929, 22276997-22277068
78WT1110.9974259974264155432456747, 32456752-32456753, 32456760
79RAG1110.999680715197961313236594921
80ROM1110.999053030303031105662381260
81SLC22A12110.998194945848383166264367192-64367194
82PYGM110.99920917358642252964518867-64518868
83LRP5110.9931930693069333484868080183, 68080196-68080199, 68080207, 68080218-68080228, 68080232-68080246, 68207368
84DHCR7110.9894957983193315142871146574-71146579, 71146590-71146595, 71146608-71146610
85MYO7A110.99984957882071664876922282
86TYR110.995597484276737159089018058-89018064
87DYNC2H1110.9830822711471621912945102984288, 102984302-102984308, 102984312-102984333, 102984343-102984374, 102999687-102999695, 103029406-103029409, 103029528, 103029535-103029538, 103036721, 103036756-103036757, 103041763-103041769, 103043855, 103044007, 103049776, 103059226-103059272, 103059324, 103062320-103062327, 103080673-103080688, 103082536-103082540, 103082546, 103082558, 103093733-103093743, 103130618-103130622, 103130636, 103130639, 103130678-103130706
88ATM110.988550866862941059171108098598-108098615, 108126951, 108127005-108127067, 108196125-108196147
89DLAT110.9963991769547371944111909993-111909999
90CACNA1C120.997866178936141465612794934-2794940, 2795425-2795431
91VWF120.989575929874448884426122647-6122650, 6125372, 6127865-6127871, 6128167-6128173, 6128451, 6128464, 6131925-6131932, 6131955-6131982, 6132003-6132033
92TNFRSF1A120.99926900584795113686438611
93ATN1120.992723201791212635737045600, 7045603-7045604, 7045608, 7045892-7045912, 7045924
94GYS2120.998579545454553211221712034, 21712045, 21712059
95ABCC9120.9937634408602229465021998562, 21998566-21998567, 21998572-21998585, 21998595-21998598, 22063802-22063805, 22063818-22063820, 22063832
96KRAS120.99473684210526357025380227-25380229
97DNM1L120.999547715965631221132866165
98LRRK2120.9894514767932580758440713851, 40713873, 40742254, 40742271-40742272, 40761458, 40761462-40761479, 40761491-40761545, 40761567
99MLL2120.9996990489948251661449426906-49426908, 49431542-49431543
100TUBA1A120.89692982456144745649522195-49522241
101KRT81120.9888010540184517151852684021-52684027, 52684882, 52685093-52685101
102KRT86120.9904175222450414146152695851-52695857, 52696927-52696933
103KRT6B120.995870206489687169552845443-52845449
104KRT6A120.988200589970520169552881524-52881542, 52884675
105KRT5120.998307952622673177352908861, 52908890, 52908919
106KRT1120.996382428940577193553072495-53072499, 53072515-53072516
107LEMD3120.998172514619885273665612359, 65612363, 65612371, 65612385-65612386
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252SLC4A520.9956063268892815341474451990-74452004
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277CHRND20.99356499356499101554233390929-233390931, 233390937-233390939, 233390955-233390958
278D2HGDH20.9980842911877431566242707288, 242707303, 242707311
279C20orf54200.9950354609929171410744354-744360
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283SNTA1200.9637681159420355151832031371-32031425
284GDF5200.993359893758310150634025112-34025116, 34025121-34025125
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298PRODH220.999445368829731180318908910
299GP1BB220.99838969404187162119711576
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302LARGE220.999559665345661227133700240
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306CYB5R3220.983443708609271590643045307-43045321
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308TYMP220.9813664596273327144950964465-50964467, 50964493-50964497, 50964501, 50964506-50964523
309ARSA220.9927821522309711152451063814, 51063822-51063830, 51063845
310SHANK3220.90808543096873482524451113070-51113132, 51113490, 51135957-51136143, 51158755-51158756, 51158764, 51158770-51158775, 51158780-51158799, 51158805-51158813, 51158823-51158824, 51158841-51158843, 51158860, 51158865-51158872, 51158878, 51158884-51158886, 51158896-51158901, 51158907-51158935, 51158946-51158966, 51158983, 51159020-51159028, 51159330, 51169436-51169478, 51169541, 51169571-51169573, 51169576-51169577, 51169632-51169638, 51169670-51169721
311SUMF130.99733333333333311254458849-4458851
312FANCD230.9900362318840644441610085533-10085539, 10088296-10088311, 10088340-10088346, 10091150-10091156, 10106473-10106479
313RAF130.995377503852089194712660113-12660121
314BTD30.99693627450985163215686590, 15686602-15686605
315SCN5A30.99881134318227588938592925-38592931
316TMIE30.99363057324841347146751074-46751076
317GNAT130.9971509971513105350231546-50231548
318RFT130.997539975399754162653156568-53156571
319ATXN730.90274841437632276283863898275-63898327, 63898345-63898403, 63898412-63898575
320ROBO230.9966159052453514413777684121-77684134
321GBE130.9644381223328675210981754616-81754618, 81754630, 81754642-81754678, 81754691-81754705, 81754718-81754725, 81754730, 81754745-81754754
322PROS130.997538158542595203193595921, 93595965-93595966, 93595986, 93596008
323ARL13B30.9984459984462128793762006-93762007
324ARL630.978609625668451256197503808-97503816, 97503822-97503824
325NPHP330.965940395692461363993132438549-132438674, 132441051, 132441118-132441126
326FOXL230.96286472148541421131138664665-138664671, 138664701-138664718, 138664724-138664726, 138664866-138664873, 138664897-138664901, 138665052
327PLOD230.95783926218709962277145802970, 145802974-145802975, 145804592-145804682, 145804694-145804695
328IDUA40.9974515800203951962996930-996934
329FGFR340.98969921714052524271803463-1803464, 1808630, 1808897-1808918
330HTT40.992576095025987094293076606, 3076614-3076661, 3076682, 3076685-3076695, 3123108-3123116
331DOK740.992739273927391115153465151-3465153, 3465261-3465268
332EVC40.99966431688486129795713200
333PROM140.997305619707477259816002155-16002161
334CNGA140.9837719298245637228047954603-47954635, 47954668, 47972976, 47972995, 47973110
335PDGFRA40.9944954128440418327055152075-55152092
336SLC4A440.9939117199391220328572352665-72352669, 72352675, 72352679-72352688, 72352695, 72352719, 72352730-72352731
337PKD240.9944960440316516290788928943-88928945, 88928954, 88928966-88928968, 88929001, 88929005-88929010, 88929027-88929028
338SNCA40.910165484633573842390743497-90743504, 90749294-90749298, 90749308-90749311, 90749326-90749335, 90756698-90756708
339CISD240.9166666666666734408103808506-103808522, 103808569-103808585
340CFI40.9994292237442911752110723080
341BBS740.933891992551211422148122766716, 122766727-122766729, 122775859-122775955, 122775964-122775975, 122782754-122782757, 122782760-122782761, 122782807-122782813, 122782816-122782817, 122782821-122782834
342MFSD840.9987154784842621557128851958, 128859941
343FGA40.99615532487505102601155507674-155507680, 155507940-155507942
344CTSO40.997929606625262966156863562, 156863604
345GLRB40.9471218206158791494158041708-158041710, 158041720-158041789, 158041793, 158041796-158041800
346GK40.96570397111913571662166199346-166199364, 166199389-166199390, 166199763, 166200390-166200417, 166200447-166200453
347SDHA50.97593984962406481995223682-223683, 236673-236681, 251143-251179
348TERT50.9979405707561733991294678-1294681, 1294694, 1295064, 1295077
349MTRR50.993572084481181421787886772-7886784, 7886816
350DNAH550.9956036036036611387513788998-13789001, 13841157-13841171, 13916486-13916522, 13916555, 13919310-13919312, 13919316
351FAM134B50.995314591700137149416616857-16616863
352NIPBL50.97825311942959183841536976082, 37006656-37006662, 37016197, 37036481-37036489, 37036506, 37036509-37036514, 37036523-37036589, 37048604-37048691, 37048769-37048771
353LIFR50.9872495446265942329438482709-38482713, 38482718-38482728, 38482737-38482740, 38482749-38482769, 38490361
354OXCT150.966090850927753156341862752, 41862760-41862765, 41862788-41862833
355ERCC850.99832073887492119160224692, 60224704
356NDUFAF250.99411764705882351060448531-60448533
357SMN250.99887005649718188569362949
358SMN250.99887005649718188570238373
359AP3B150.9945205479452118328577458700-77458715, 77563406, 77563410
360RASA150.96660305343511105314486669988-86669992, 86670034-86670037, 86670039-86670099, 86670103-86670137
361MEF2C50.9753867791842535142288024310-88024312, 88024393-88024424
362GPR9850.99915437873263161892189941793, 89941800, 89941803-89941807, 89971939-89971941, 90144532, 90144554, 90144566-90144567, 90144570, 90144575
363WDR3650.99194677871148232856110436308, 110436322, 110436337-110436339, 110436394-110436401, 110436412-110436420, 110441765
364APC50.9985935302391128532112102899, 112102931, 112102941-112102946, 112128186-112128189
365FBN250.99393523286417538739127645714-127645750, 127702091-127702095, 127702113-127702123
366TGFBI50.999512670565312052135364878
367MYOT50.99331997327989101497137221863-137221867, 137221875-137221879
368NDUFA250.996666666666671300140027148
369DIAPH150.99685781618225123819140953560-140953569, 140953577-140953578
370GRM650.98101746393318502634178421782, 178421794, 178421891-178421901, 178421909-178421945
371FLT450.9992668621700934092180076528-180076530
372FOXC160.984356197352592616621611659, 1611687, 1611690, 1611693-1611699, 1611703-1611705, 1612006-1612007, 1612016-1612018, 1612024-1612025, 1612042-1612047
373TUBB2B60.973094170403593613383225540-3225575
374DTNBP160.9839015151515217105615627621-15627630, 15663074-15663076, 15663082-15663083, 15663090-15663091
375ATXN160.982843137254942244816327869-16327871, 16327879-16327883, 16327891, 16327894, 16327897, 16327899-16327902, 16327907-16327924, 16327927-16327935
376HLA-H60.99866666666667175029856397
377TNXB60.9673405909797863192931976896-31976929, 31977388-31977394, 31977835-31977841, 31979421-31979428, 31980130-31980136
378CYP21A260.9892473118279616148832006317, 32006337, 32007846-32007852, 32008195-32008201
379TNXB60.99505067169456631272932009631-32009664, 32010123-32010129, 32010569-32010575, 32012275-32012282, 32012984-32012990
380HLA-DQA160.8632812510576832605254-32605299, 32609173, 32609195, 32609199, 32609207, 32609213, 32609216-32609228, 32609231-32609233, 32609236, 32609239-32609241, 32609253-32609255, 32609264, 32609271, 32609278-32609279, 32609286, 32609299, 32609312, 32609749, 32610387-32610406, 32610436, 32610453, 32610461
381HLA-DQB160.7786259541984717478632629161, 32629190-32629213, 32629227, 32629847, 32629889, 32629904-32629905, 32629932-32629958, 32632621-32632637, 32632642, 32632769-32632775, 32632777, 32632795, 32634279-32634353, 32634370-32634384
382COL11A260.9936672423719133521133140338-33140370
383SYNGAP160.94246031746032232403233388042-33388108, 33393616-33393623, 33393634-33393640, 33393661-33393672, 33393679-33393680, 33411503-33411526, 33411546-33411548, 33411554-33411559, 33411562-33411646, 33411658-33411665, 33411675-33411683, 33411698
384PRPH260.996157540826134104142672152, 42672168-42672170
385RUNX260.999361430395911156645390445
386CD2AP60.9927083333333314192047575675-47575688
387MUT60.9813581890812342225349409563-49409573, 49409576-49409589, 49409603, 49409614-49409619, 49409624, 49409633-49409639, 49409661, 49409667
388EYS60.98865924748278107943565098714, 65523277, 65523286, 65523351-65523398, 65596605-65596652, 65596670, 65596685, 66005866, 66005905, 66005924, 66063430, 66200544-66200545
389LMBRD160.994454713493539162370410740-70410748
390RIMS160.9972435518802914507973108783-73108796
391LCA560.999522445081181209480196727
392BCKDHB60.9855810008481817117980877407, 80880999-80881008, 80881037, 80881060-80881061, 80881073-80881075
393SEC6360.9969338589575172283108192920-108192926
394FIG460.999265785609422724110081478-110081479
395WISP360.996425379803441119112389470, 112389582, 112389585, 112389589
396COL10A160.9955947136563992043116442360-116442363, 116442369-116442371, 116442400-116442401
397GJA160.9939077458659771149121768922-121768928
398LAMA260.99850475275019149363129714205-129714218
399ENPP160.99640028797696102778132171187-132171190, 132203555-132203559, 132203571
400PEX760.9465020576131752972137143859, 137167229-137167233, 137167244-137167272, 137167283-137167289, 137167306, 137167312-137167319, 137193362
401SYNE160.999204364628322126394152545786, 152545799, 152644745-152644748, 152737829-152737834, 152763372-152763380
402TBP60.96764705882353331020170871018-170871020, 170871027-170871028, 170871031, 170871038-170871040, 170871046, 170871049-170871061, 170871077-170871080, 170871091-170871096
403LFNG70.8815789473684213511402559496-2559518, 2559530, 2559541-2559545, 2559550, 2559598-2559604, 2559607, 2559616-2559619, 2559624-2559641, 2559647, 2559656-2559661, 2559665-2559706, 2559730-2559731, 2559734, 2559746, 2559755-2559767, 2559772-2559777, 2559786, 2559789, 2559877
404PMS270.979528775589035325896013045-6013052, 6013150-6013157, 6018249, 6029451, 6043613-6043647
405TWIST170.750410509031215260919156793-19156944
406DNAH1170.9965369879163471357221630536-21630543, 21630553-21630567, 21631137-21631151, 21654733-21654740, 21894009
407HOXA1370.87060839760069151116727239087-27239091, 27239094-27239095, 27239295, 27239299-27239301, 27239307, 27239315-27239319, 27239326-27239328, 27239331-27239335, 27239340, 27239343, 27239362-27239435, 27239447-27239454, 27239468-27239477, 27239501-27239503, 27239506, 27239538-27239544, 27239550, 27239554-27239559, 27239561-27239562, 27239568, 27239571-27239581
408BBS970.99849849849854266433303956-33303958, 33303975
409GLI370.9953615854944122474342005678, 42005696, 42005841-42005860
410CCM270.9775280898876430133545039933-45039962
411KCTD770.99655172413793387066094182-66094184
412SBDS70.984063745019921275366456158-66456164, 66460277-66460281
413NCF170.8545454545454512082572639957-72639999, 72640033-72640039, 72643687-72643710, 72644230-72644236, 72645927, 72648669-72648699, 72648744-72648750
414ELN70.9779310344827648217573442518-73442519, 73442527-73442572
415NCF170.90196078431373115117374193665-74193681, 74202349-74202379, 74202424-74202430, 74202917-74202936, 74203007-74203046
416HGF70.999542752629171218781374388
417ABCB470.999479166666672384087092223-87092224
418AKAP970.99829409757762201172491609603-91609610, 91609612, 91609618-91609627, 91609632
419KRIT170.997738579828135221191867024-91867028
420PEX170.999740394600211385292130881
421COL1A270.9880516947086149410194030907-94030932, 94049725-94049728, 94058720-94058732, 94058735, 94058738-94058742
422SLC26A570.9991051454138722235103017265-103017266
423RELN70.99980726606919210377103301973-103301974
424SLC26A470.9978659837814852343107323656, 107323665-107323668
425IFRD170.9941002949852581356112090788-112090795
426CFTR70.947107810038262354443117188713-117188766, 117188794-117188800, 117188846-117188877, 117230471-117230483, 117234984-117235112
427AASS70.9978425026968762781121769491-121769494, 121769572, 121769588
428IMPDH170.99591800128036663-128036667, 128049893-128049896
429FLNC70.9998777207141118178128477301
430ATP6V0A470.98771304003171312523138394381, 138394398, 138394401-138394406, 138394416-138394438
431BRAF70.998696219035232301140624406, 140624408-140624409
432PRSS170.86155913978495103744142458434-142458454, 142458483-142458514, 142459625-142459629, 142459664-142459682, 142459868-142459878, 142460313, 142460335, 142460339, 142460366-142460377
433CNTNAP270.996996996997123996145813983-145813994
434KCNH270.968103448275861113480150644694-150644707, 150644718-150644719, 150644722-150644729, 150648911-150648913, 150671846-150671847, 150671850-150671851, 150671871-150671876, 150671883, 150671888-150671892, 150671903-150671915, 150671926-150671969, 150671981-150671991
435SHH70.9992800575953911389155595806
436MNX170.856550580431181731206156802645-156802780, 156802786-156802787, 156802789-156802794, 156802859-156802862, 156802876, 156802885-156802888, 156802897-156802909, 156802913-156802919
437GATA480.999247554552291132911566276
438ADAM980.999593495934961246038880684
439HGSNAT80.998951781970652190842995668, 42995706
440CHD780.9951078496775644899461654443, 61654502-61654506, 61654520-61654522, 61693805-61693833, 61734355, 61734590, 61749450-61749451, 61774781-61774782
441PEX280.99891067538126191877895997
442NBN80.999558498896251226590960054
443TMEM6780.9752342704149974298894768073, 94777660, 94777671-94777672, 94777675, 94777800-94777810, 94777819-94777857, 94805507-94805523, 94827551, 94827568
444VPS13B80.993663498415877611994100123326-100123329, 100123384-100123392, 100123397-100123399, 100123405, 100123408-100123411, 100123445-100123464, 100123481-100123507, 100146869, 100287447-100287451, 100514043, 100779035
445KCNQ380.9992363497518122619133492763, 133492779
446TG80.9993980979896558307133882071, 133912565-133912567, 133912574
447CYP11B180.9702380952381451512143957148-143957154, 143958288-143958294, 143958572-143958602
448CYP11B280.9993386243386211512143994029
449PLEC80.99743863393813614055144995066-144995070, 144996242-144996258, 144996536, 144998903, 144998912, 144998916, 145006814-145006823
450GPT80.99128101945003131491145731484-145731494, 145732024-145732025
451KCNV290.979853479853483316382718509-2718510, 2718732, 2718759, 2718961-2718989
452GLIS390.99928392409595227934118056, 4118328
453JAK290.972344807296269433995077453-5077529, 5077558-5077572, 5090569-5090570
454B4GALT190.999164578111951119733167136
455GALT90.997368421052633114034648831-34648833
456NPR290.9949109414758316314435799638-35799653
457TMC190.998247919404294228375315434-75315436, 75315440
458VPS13A90.97931758530184197952579824363-79824367, 79840855, 79841415, 79841420, 79843046-79843049, 79843124, 79896809, 79896813-79896815, 79896820, 79896824, 79896833-79896842, 79897090-79897092, 79929021, 79929034-79929035, 79930193-79930206, 79931124-79931125, 79931128, 79931131-79931133, 79931137-79931141, 79931157, 79931161, 79932522-79932548, 79932589-79932593, 79932607-79932614, 79933239-79933240, 79933244-79933245, 79933258-79933261, 79938033-79938037, 79938087-79938090, 79938098-79938101, 79938108, 79938114-79938115, 79938125-79938130, 79946928-79946965, 79946989, 79974253-79974254, 79996921, 79996928-79996947, 79996956, 79996981, 79996991
459FOXE190.95989304812834451122100616693-100616737
460TGFBR190.9960317460317561512101867538-101867543
461INVS90.9993746091307123198103004888, 103004959
462SETX90.9996265870052338034135139867, 135158682-135158683
463TSC190.99713876967096103495135779067-135779076
464CEL90.887274328489652562271135944521-135944527, 135944583-135944589, 135945985-135946018, 135946755, 135946764, 135946775-135946980
465SURF190.9678848283499429903136223294-136223322
466ADAMTS1390.99719887955182124284136293772, 136293824-136293828, 136293833-136293835, 136308656-136308658
467DBH90.9983818770226531854136523500-136523502
468COL5A190.99818742069966105517137534067, 137534087-137534090, 137534099-137534101, 137534126, 137534129
469LHX390.9958643507030651209139090877-139090879, 139090887, 139090899
470INPP5E90.998449612403131935139326314, 139333317-139333318
471NOTCH190.9989567031820687668139390945-139390947, 139401087-139401091
472AGPAT290.9307048984468358837139581739-139581787, 139581800-139581808
473SLC34A390.99222222222222141800140128315-140128328
474ARXX0.9816459443457731168925031528-25031531, 25031651-25031661, 25031667-25031675, 25031777-25031779, 25031787-25031789, 25031806
475RPGRX0.9615495808037133345938145359-38145365, 38145389, 38145392, 38145401-38145410, 38145438-38145456, 38145524-38145567, 38145579-38145627, 38145650-38145651
476ARX0.9869706840390936276366765180-66765186, 66765189, 66765194-66765198, 66766361-66766383
477MED12X0.999540863177233653470361098-70361100
478TAF1X0.9956001407954925568270586165-70586167, 70586177-70586182, 70586205-70586219, 70586234
479BRWD3X0.998890737659466540979991583-79991585, 80064951-80064953
480LAMP2X0.9959546925566351236119590515-119590519
481XIAPX0.9993306559571611494123025089
482ZIC3X0.9978632478632531404136648985-136648987
483SLC6A8X0.96750524109015621908152954115-152954122, 152954132-152954179, 152954190-152954195
484ABCD1X0.99374441465594142238153008473-153008486
485MECP2X0.97394789579158391497153363061-153363075, 153363098-153363121
486OPN1LWX0.96529680365297381095153418521-153418544, 153420173-153420179, 153421909-153421915
487OPN1MWX0.96164383561644421095153455651-153455668, 153457286-153457302, 153459043-153459049
488OPN1MWX0.96164383561644421095153492769-153492786, 153494404-153494420, 153496161-153496167
VariantPhase/
Zygosity
Allele freqImpactEvaluationSummary / Info
2.5HTRA2-A141Shet unknownUnknown
pathogenic
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5ITGB2-Q354Hhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.543 (possibly damaging), Testable gene in GeneTests
2.5ITGB2-G273Rhet unknownUnknown
pathogenic
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
2.5CRB1-V162Mhet unknownUnknown
pathogenic
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5SP110-M523Thet unknown0.319Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5SP110-L425Shomozygous0.875Unknown
pathogenic
Low clinical importance,
uncertain
This variant is associated with a slightly increased risk of tuberculosis. It is unclear whether it is itself causal, or in linkage disequilibrium with some other causal variant that has a stronger effect.
2.5SP110-G299Rhet unknown0.822Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5SP110-A206Vhet unknown0.142Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5SP110-W112Rhomozygous0.945Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5KRT5-G138Ehet unknown0.031Unknown
pathogenic
Low clinical importance,
likely
This variant is associated with 1.25x increased risk of basal cell carcinoma (common skin cancer, rarely malignant).
2.5COL4A1-Q1334Hhet unknown0.292Dominant
pathogenic
Low clinical importance,
likely
This common variant has been associated with arterial stiffness and, in Japanese, a small increased risk of myocardial infarction (MI, a.k.a. heart attack). This last observation supported a dominant effect for this variant and, assuming a lifetime risk of 15% for MI, we estimate carriers have an additional risk of 0.5-3%.
2.5COL4A1-T555Phomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5COL4A1-V7Lhet unknown0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5C3-P314Lhet unknown0.079Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.159 (benign), Testable gene in GeneTests with associated GeneReview
2.5C3-R102Ghet unknown0.053Complex/Other
pathogenic
Moderate clinical importance,
likely
This variant (also called C3F) is common in Europeans (10.2% allele frequency), and is associated with age-related macular degeneration. In the US, 1.5% of adults over 40 have the disease, but the incidence increases strongly with age (>15% in women over 80). Assuming an average lifetime risk of ~10%, heterozygous individuals have a ~13% risk and homozygous have ~20%.
2.5SDHB-S163Phet unknown0.016Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2ABCC2-Y39Fhomozygous0.990Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
2ABCC2-V1188Ehomozygous0.086Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2ABCC2-C1515Yhomozygous0.095Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2LIG4-T9Ihet unknown0.132Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.966 (probably damaging)
2LIG4-A3Vhet unknown0.023Dominant
protective
Low clinical importance,
uncertain
One report has associated this with a decreased risk of multiple myeloma.
2AKAP10-I646Vhomozygous0.434Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
2AKAP10-R249Hhomozygous0.427Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
2XYLT1-A115Shet unknown0.009Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.036 (benign)
2NEFL-S472ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
2CST3-A25Thet unknownUnknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown
2H6PD-R453Qhomozygous0.407Recessive
pathogenic
Low clinical importance,
uncertain
This common variant may have a small pathogenic effect by contributing to cortisone reductase deficiency (a rare abnormality) when homozygous and combined with a serious pathogenic variant. The same authors have tested and ruled out a contribution to polycystic ovary syndrome (similar phenotype, more common disease).
1.5MTHFR-A222Vhomozygous0.250Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.858 (probably damaging), Testable gene in GeneTests
1.5KCNJ11-V337Ihomozygous0.761Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.5KCNJ11-K23Ehomozygous0.711Unknown
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.
1.5CYP2C9-R144Chet unknown0.027Unknown
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.
1.5LPA-R2016Chet unknown0.180Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5LPA-I1891Mhet unknown0.068Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5LPA-M1679Thet unknown0.693Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5LPA-L1372Vhet unknown0.495Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5LPA-L1358Vhet unknown0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5LPA-S892Ghet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1.5PPARG-P12Ahet unknown0.051Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.979 (probably damaging), Testable gene in GeneTests
1.25TP53-P72Rhet unknown0.550Unknown
pathogenic
Low clinical importance,
uncertain
This is a common variant was first reported as a polymorphism. It has since had mixed associations with cancer: Storey et al. conclude a 7x *increased* risk of HPV cancer for homozygotes vs hets, but Jones et al. find a 1.98x *decreased* risk for colorectal cancer. This variant may have significant impact on particular cancers, but it is unclear what effect it has on the overall burden of cancer.
1.25RNASEL-D541Ehomozygous0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1.25RNASEL-R462Qhet unknown0.208Complex/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.
1HRNR-S970Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1HRNR-S799Thomozygous0.569Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-F669Shet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-R664Qhet unknown0.568Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-G492Ehet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1HRNR-G492Rhet unknown0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-H491Yhet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-G490Shet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1HRNR-E473Ghomozygous0.951Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-G427Dhomozygous0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-Q376Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-H273Qhomozygous0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-R85Hhomozygous0.553Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.078 (benign)
1HRNR-M1ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SEPN1-C108Yhomozygous0.789Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SEPN1-N467KhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1DYX1C1-S420Chet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.991 (probably damaging)
1DYX1C1-E417*het unknown0.354Unknown
pathogenic
Low clinical importance,
uncertain
One study reports this variant to be associated with dyslexia. The study group was relatively small and so the results did not have strong significance. If they are representative this variant is associated with a doubled risk for dyslexia, but it is unclear whether the effect would be additive, dominant, or recessive.
1CILP-G1166Shomozygous0.766Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CILP-Q979Rhomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CILP-K575Ehomozygous0.974Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CILP-I395Thet unknown0.491Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1KRT4-G160GAGGFGAGFGTGGFGhomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1FLG-E2652Dhomozygous0.304Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.406 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1FLG-R1560ChomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1B3GNT6-L316ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1B3GNT6-L335ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SLCO1B1-N130Dhet unknown0.663Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1SLCO1B1-V174Ahet unknown0.097Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1AP1S2-T35AhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1AP1S2-R29PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1CELA1-Q243Rhet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CELA1-L210Shifthet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
1CELA1-M59Vhet unknown0.142Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.24 (possibly damaging)
1CELA1-R44Whet unknown0.262Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CELA1-Q10Hhet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.463 (possibly damaging)
1CELA1-Y5PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1CELA1-V3ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1VDR-M1Thomozygous0.687Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
1CHRNA5-D398Nhet unknown0.158Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign)
1NPRL3-L489Shifthomozygous0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZFPM1-E444ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZFPM1-L446ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CYBA-Y72Hhomozygous0.649Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1PIK3R6-L609ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ELAC2-S217Lhet unknown0.209Complex/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).
1GPR56-S281Rhomozygous0.750Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GPR56-Q306Hhomozygous0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PADI6-V343Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NR_027242-N339Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NR_027242-N339Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1NR_027242-L114Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1NR_027242-Q97ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NR_027242-L22PhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1SEBOX-L207Shomozygous0.913Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SEBOX-W10ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TPSB2-P151ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF598-M637Thet unknown0.601Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF598-G42ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF598-E25GhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF598-E17AhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF598-DM13ALhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF598-G6ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ARMS2-A69Shomozygous0.294Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1SMPD1-AL48DelhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SMPD1-G508Rhomozygous0.151Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1BANK1-R61Hhet unknown0.221Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1BANK1-A383Thet unknown0.233Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.778 (possibly damaging)
1BANK1-C650Rhomozygous0.990Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1AX746903-T82ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1IL13-Q144Rhomozygous0.766Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1AIM1-C491Rhet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.091 (benign)
1AIM1-E1196Ahomozygous0.935Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.015 (benign)
1CUL7-Q813RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CUL7-M69Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ADH1B-H48Rhomozygous0.678Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1ADD1-G460Whet unknown0.232Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.995 (probably damaging)
1ADD1-S617Chet unknown0.334Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1TTN-D24019Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-I23649Thet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-A19840PhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-R9852Hhet unknown0.198Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-G9378Rhet unknown0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-T8694Shet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-R7402Chet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-S3419Nhomozygous0.850Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-V3261Mhomozygous0.840Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-S1295Lhomozygous0.881Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-K1201Ehomozygous0.519Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FRZB-R324Ghet unknown0.103Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging)
1FRZB-R200Whet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging)
1HADHB-T2TThomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1CCDC66-D5ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CCDC66-Q383Rhomozygous0.934Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CCDC66-R460Qhet unknown0.206Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
1CCDC66-S606SShet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1CCDC66-E941Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF167-N494ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1LRP11-P92RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
1NR_024390-W43*homozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1NR_024390-A104PhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1PLEC-T4539Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PLEC-G3490Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PLEC-R2969HhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PLEC-S2791Phomozygous0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PLEC-A2194Vhomozygous0.210Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PLEC-H1459Rhomozygous0.512Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PLEC-R1386Qhomozygous0.276Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PLEC-A641Vhet unknown0.210Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TOR1A-D216Hhet unknown0.089Unknown
protective
Low clinical importance,
likely
This SNP has been shown to be benign and play a protective role against Dystonia.
1IL6R-D358Ahomozygous0.266Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.911 (probably damaging)
1CCDC74B-P201Shomozygous0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
1CCDC74B-H149Rhomozygous0.956Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ADRB1-S49Ghet unknown0.003Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown
1SLC30A8-R325Whomozygous0.225Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1CD226-S307Ghomozygous0.423Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1POR-A503Vhomozygous0.227Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1MLXIPL-A358Vhet unknown0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.345 (possibly damaging)
1MLXIPL-Q241Hhet unknown0.090Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging)
1KCP-D621Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KCP-K395Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KCP-H313ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KCP-A16ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ATG9B-A765ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PLEKHA2-P389Shifthomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1F5-M1764Vhet unknown0.273Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-K925Ehet unknown0.196Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-H865Rhet unknown0.238Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-K858Rhet unknown0.239Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-Q534Rhomozygous0.991Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CHAT-A120Thet unknown0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
1CHAT-V461Mhomozygous0.927Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CHAT-R561Qhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests with associated GeneReview
1ZNF761-L47ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF761-I122ShomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF761-V168IhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF761-G528ShomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF761-E603QhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ITIH5L-W1041Shomozygous0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
1DLG3-P69RhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1INSR-A2GhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ZNF880-N106ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF880-N140NNhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF880-R198Shomozygous0.354Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF880-N202Hhomozygous0.292Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF880-K471Rhomozygous0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1DGKK-L1014ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF81-A3VhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1VSIG10L-Q860ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KRTAP7-1-I61ShomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KRTAP7-1-S51PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KRTAP7-1-Y17ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1HSH2D-S223Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1C19orf55-A325Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1C19orf55-K365Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1C19orf55-G398ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1AURKA-I57Vhomozygous0.814Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1AURKA-F31Ihet unknown0.366Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1NR_027444-W159ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SCARF2-A832GhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1SCARF2-A814GhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1SCARF2-DV772ELhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1SCARF2-E764ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SCARF2-P747ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SCARF2-A745ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1FAM58A-Q15ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
1FAM58A-G4ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
1TCEAL6-Q175Shifthomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.75NPC1-I858Vhet unknown0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.061 (benign), Testable gene in GeneTests with associated GeneReview
0.75NPC1-M642Ihet unknown0.863Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75NPC1-H215Rhet unknown0.222Complex/Other
protective
Low clinical importance,
likely
This variant is associated with a reduced risk of obesity, with an additive effect of -0.084 BMI per allele (an average of 0.54 pounds less, per allele, in a 5'6" individual).
0.75PRNP-M129Vhet unknown0.258Complex/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.
0.5TNXB-P2731Rhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-G2518Ehet unknown0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MOCS1-R439Qhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5APOBEC2-T120Nhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5CCNO-I219Shifthet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TULP1-K261Nhomozygous0.805Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TULP1-I259Thet unknown0.344Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TULP1-T67Rhomozygous0.877Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NOTCH4-C815Ghet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5NOTCH4-K117Qhet unknown0.391Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-DQB1-Q253Hhet unknown0.541Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-R252Hhet unknown0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-T103Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-G102Rhet unknown0.605Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-EV98DIhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-F41Yhomozygous0.789Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-Q4048Rhet unknown0.566Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-Q3899Rhet unknown0.546Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-L1870Vhomozygous0.905Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-A1262Vhet unknown0.239Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-R760Chet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IL7R-I66Thet unknown0.597Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IL7R-V138Ihet unknown0.689Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IL7R-T244Ihet unknown0.150Unknown
protective
Low clinical importance,
likely
The reference genome variant for this allele has been associated with a slight increased risk of multiple sclerosis. Thus, this variant can be treated as a "protective" variant -- carriers of this variant are slightly less likely to have MS. Because the disease is rare and the effect of this variant is not very strong, the absolute decreased risk for carriers of this variant is less than .05% (less than 1 in 2000).
0.5IL7R-S453Phet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TNXB-W458Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-R48Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PLEKHG1-D668Ghet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5DNAH5-I4450Vhet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-Q2463Rhet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-I766Lhet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.026 (benign), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-T558Ahet unknown0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.791 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-H12Qhomozygous0.896Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-T8687Ihet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-F7302Vhomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-L5015Mhomozygous0.866Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-S4596Thomozygous0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-K4121Rhomozygous0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-E4060Dhet unknown0.539Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5BCLAF1-S209Chet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.96 (probably damaging)
0.5BCLAF1-G66Ahet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BCLAF1-R45Mhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5RSPH4A-R556Hhet unknown0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5RSPH4A-L589Phomozygous0.707Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EYS-R2326Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-N1902Ihet unknown0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-L1873Vhet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-S1517Ghet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-R1515Whet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-I1451Thet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-L1419Shomozygous0.780Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-I1361Vhet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-Q1325Ehet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-I1263Vhet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-G631Shet unknown0.596Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-T120Mhet unknown0.165Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FILIP1-L282Fhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.924 (probably damaging)
0.5COL18A1-A288Thet unknown0.177Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.017 (benign), Testable gene in GeneTests
0.5COL18A1-T379Mhomozygous0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.969 (probably damaging), Testable gene in GeneTests
0.5COL18A1-PGP1362Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FAM26F-G80Rhet unknown0.193Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.992 (probably damaging)
0.5FAM26F-T100Ahet unknown0.614Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAM26F-E293Khet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.855 (probably damaging)
0.5HLA-H-D29Ahet unknown0.071Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-P32Qhet unknown0.060Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-E34Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-G109Shet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-R141Qhet unknown0.188Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-S182Whet unknown0.392Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-C238Shet unknown0.729Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A2-S399Nhomozygous0.727Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A2-R680Hhomozygous0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5APC-V1822Dhomozygous0.887Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-L1093Fhet unknown0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-T1927Mhet unknown0.084Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-V1951Ihet unknown0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-N2584Shet unknown0.825Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E3471Khomozygous0.834Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E5344Ghomozygous0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-V5427Mhomozygous0.918Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-V5876Ihet unknown0.424Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.94 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5AP3B1-V585Ehomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5SLC26A2-I574Thomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC22A4-I306Thomozygous0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SLC22A4-L503Fhet unknown0.142Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5FBXL21-N31Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5FBXL21-V172Delhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5FBXL21-P208Lhet unknown0.812Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SRA1-V110RLhomozygous0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NDUFA2-G9Phet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ADRB2-G16Rhet unknown0.477Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5ADRB2-E27Qhet unknown0.773Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5TCOF1-A99Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TCOF1-P1139Rhomozygous0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GEMIN5-R682Qhomozygous0.811Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.151 (benign)
0.5GEMIN5-R319Ghet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5PROP1-N20Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BC040901-C89Whet unknown0.706Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BC040901-P93Shet unknown0.548Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BC040901-A106Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5FLT4-H890Qhet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.714 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5FLT4-T494Ahet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.5MSX2-M129Thomozygous0.716Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GABRA6-T187Mhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5KIF4B-R580Lhomozygous0.685Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIF4B-R680Hhet unknown0.176Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5KIF4B-Y684Chet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5KIF4B-V755Ihet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.877 (probably damaging)
0.5KIF4B-I834Shifthet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5KIF4B-R1029Hhet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.043 (benign)
0.5RAD17-L557Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5OPRM1-N40Dhomozygous0.204Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OPRM1-Q402Hhomozygous0.882Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SGCD-R96Qhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EPDR1-A36Shifthet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CBR3-C4Yhomozygous0.391Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign)
0.5FKTN-R203Qhomozygous0.177Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.166 (benign), Testable gene in GeneTests with associated GeneReview
0.5DFNB31-H752Qhomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-M613Thet unknown0.487Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-R364Hhomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-V1540Lhomozygous0.714Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-E289Qhomozygous0.801Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALG2-V367Ahet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALG2-S11Phet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GALNT12-E119Vhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.881 (probably damaging)
0.5FER1L6-D1110Ehomozygous0.780Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FER1L6-R1720Qhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5RECQL4-R1005Qhet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RECQL4-R766Shifthomozygous0.278Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests with associated GeneReview
0.5RECQL4-E267Dhet unknown0.471Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RECQL4-S92Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ROR2-V819Ihomozygous0.798Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ROR2-T245Ahomozygous0.619Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NOL8-S406Phet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.266 (possibly damaging)
0.5NOL8-K165Rhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5ADAMTS13-Q448Ehomozygous0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ADAMTS13-P618Ahet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.5ADAMTS13-A900Vhet unknown0.082Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MAMDC4-P397Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5MAMDC4-W908Ghet unknown0.778Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ANXA11-R191Qhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5DYDC2-P123Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5CDHR1-H53Qhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.864 (probably damaging)
0.5PLCE1-S469Thet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
0.5PLCE1-R1575Phet unknown0.517Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PLCE1-T1777Ihet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PLCE1-H1927Rhet unknown0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.5USP54-G1514Ahet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.924 (probably damaging)
0.5CCDC7-L77Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5IDI2-W144*het unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5PITRM1-F618Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5PITRM1-Q8Rhet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ECHDC3-R20Chet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging)
0.5ECHDC3-A69Thomozygous0.836Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ECHDC3-A151Thomozygous0.873Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-*768Qhet unknown0.570Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-I584Mhomozygous0.963Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-M521Thet unknown0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-D473Ghet unknown0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.849 (possibly damaging)
0.5PTCHD3-C407Ghet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5PTCHD3-S309Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PTCHD3-L152Phet unknown0.225Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.5CRNKL1-T158Ahet unknown0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CRNKL1-Q111Hhet unknown0.709Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5CRNKL1-F51Lhet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.497 (possibly damaging)
0.5CRNKL1-Q50*het unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5CNGB3-T298Phomozygous0.681Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview
0.5CNGB3-C234Whomozygous0.939Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GLI3-T183Ahomozygous0.663Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EGFR-R521Khet unknown0.259Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TBL2-E8Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.92 (probably damaging)
0.5TLR3-L412Fhet unknown0.200Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5GARS-P42Ahomozygous0.654Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR146-D221Ehet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5PMS2-K541Ehomozygous0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PMS2-P470Shet unknownUnknown
benign
Low clinical importance,
likely
Benign, common variant.
0.5DAGLB-Q664Rhomozygous0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.293 (possibly damaging)
0.5DAGLB-L456Vhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging)
0.5DAGLB-E398Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5DNAH11-E34Lhomozygous0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-Q639Rhet unknown0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-S654Chet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-V1023Ahet unknown0.193Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T1038Ahomozygous0.747Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-V3715Lhomozygous0.452Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-M4172Vhomozygous0.334Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-K4508Rhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KCNQ2-N780Thomozygous0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CROT-T459Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5CROT-V460Ghet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.124 (benign)
0.5SALL4-L507Rhet unknown0.328Dominant
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.125 (benign), Testable gene in GeneTests with associated GeneReview
0.5NINL-R1276Chet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.982 (probably damaging)
0.5NINL-WE958Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5GGH-A31Thet unknown0.198Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5GGH-C6Rhet unknown0.088Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PEX2-C184Rhomozygous0.990Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF77-C167Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZNF77-Q100*het unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5MCPH1-R171Shomozygous0.865Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-R304Ihet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D314Hhet unknown0.648Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D392Ghomozygous0.979Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-T682Nhet unknown0.148Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-A761Vhet unknown0.504Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-P828Shet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYP3A7-R409Thomozygous0.669Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CFTR-V470Mhomozygous0.621Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CABLES2-T428Khomozygous0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CABLES2-M167Ihet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.883 (probably damaging)
0.5CABLES2-P72RhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CLCN1-G118Whomozygous0.995Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CLCN1-K614Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5UGT2A3-A497Thomozygous0.627Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.418 (possibly damaging)
0.5UGT2A3-F494Vhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5FSTL5-G193Ehet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5EPHX1-Y113Hhet unknown0.290Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging)
0.5EPHX1-H139Rhet unknown0.210Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5AGT-M268Thomozygous0.733Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AGT-T207Mhet unknown0.093Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5EDARADD-M9Ihomozygous0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RAB3GAP2-S1092Thet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.924 (probably damaging)
0.5USH2A-M3868Vhet unknown0.131Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-E3411Ahet unknown0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-I2169Thet unknown0.575Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-I2106Thomozygous0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-I1665Thet unknown0.052Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.3 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5USH2A-R1486Khet unknown0.646Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview
0.5USH2A-V230Mhet unknown0.008Recessive
benign
Low clinical importance,
uncertain
This rare variant may be associated with Usher Syndrome II, but the literature seems to have concluded that it is a non-pathogenic polymorphism (including authors who earlier reported it as pathogenic).
0.5USH2A-A125Thomozygous0.777Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMD-R2937Qhomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMD-R1745Hhomozygous0.387Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DMD-D882Ghomozygous0.727Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PHLDA3-R28Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.852 (probably damaging)
0.5CHIT1-V357V*het unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation, Testable gene in GeneTests
0.5MFSD4-S156Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5MFSD4-G314Ahomozygous0.343Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RYR2-Q2958Rhomozygous0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HS1BP3-A388Thet unknown0.155Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.012 (benign)
0.5HS1BP3-P348Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.916 (probably damaging)
0.5HS1BP3-V260Mhomozygous0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OXER1-L407Vhet unknown0.324Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.36 (possibly damaging)
0.5OXER1-M40Ihet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.931 (probably damaging)
0.5MCEE-A76Vhomozygous0.177Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-S524SPhomozygous0.578Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-V671Ghomozygous0.857Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R4029Khomozygous0.527Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC4A5-H253Yhet unknown0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.984 (probably damaging), Testable gene in GeneTests
0.5CYP1B1-N453Shet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.837 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5CYP1B1-V432Lhet unknown0.547Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALK-D1529Ehomozygous0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALK-K1491Rhomozygous0.405Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.5ALK-I1461Vhomozygous0.982Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5APOB-S4338Nhet unknown0.725Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5APOB-P2739Lhet unknown0.346Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5APOB-I2313Vhet unknown0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5APOB-H1923Rhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5APOB-Y1422Chomozygous0.994Unknown
benign
Low clinical importance,
uncertain
This position is almost certainly an error in the HG18 reference sequence.
0.5APOB-A618Vhet unknown0.494Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5APOB-T98Ihet unknown0.149Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5APOB-LAL12Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KAL1-V534Ihomozygous0.543Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GCKR-L446Phet unknown0.673Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5C2orf71-S1225SShet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5C2orf71-L792Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ASPM-Y2494Hhomozygous0.992Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-V614Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFHR2-C72Yhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5XIAP-Q423Phomozygous0.277Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.053 (benign), Testable gene in GeneTests with associated GeneReview
0.5ALPL-V522Ahet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HSPG2-V4296Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-A4071Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-A1503Vhomozygous0.777Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-N765Shomozygous0.896Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-M638Vhomozygous0.978Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ATP7A-E1350Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CROCC-R7Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CROCC-Q302Ehet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.956 (probably damaging)
0.5CROCC-D463Yhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.987 (probably damaging)
0.5CROCC-T824Mhet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.351 (possibly damaging)
0.5CROCC-R903Shet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5SPATA21-K361KKhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SPATA21-V255Lhet unknown0.238Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SPATA21-P119Lhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5AGRN-E728Vhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.5AGRN-L1088Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AGRN-P1289Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ESPN-A402Thet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5OPN1LW-L153Mhomozygous0.182Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNFRSF1B-M196Rhet unknown0.206Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.5LRP8-R952Qhet unknown0.130Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5LRP8-D46Ehet unknown0.621Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LEPR-K109Rhet unknown0.332Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.026 (benign), Testable gene in GeneTests
0.5LEPR-Q223Rhomozygous0.569Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.484 (possibly damaging), Testable gene in GeneTests
0.5KCNJ10-R271Chet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.96 (probably damaging), Testable gene in GeneTests
0.5SLAMF1-P333Thet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5USP21-G321Dhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging)
0.5TSEN15-G19Dhomozygous0.295Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.932 (probably damaging)
0.5TSEN15-Q59Hhomozygous0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.961 (probably damaging)
0.5TDRKH-G257Ahet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.937 (probably damaging)
0.5SEC22B-D70Yhet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SEC22B-T81Khet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SEC22B-R107Qhet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SEC22B-C129Rhet unknown0.085Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SEC22B-R131*het unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5SEC22B-H189Rhet unknown0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DPYD-R29Chomozygous0.731Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL11A1-S1547Phomozygous0.752Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-P1335Lhet unknown0.479Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-D46Ehet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PTPN22-W620Rhet unknown0.970Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5FAM72B-I122Vhet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5FAM72B-W125Rhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.965 (probably damaging)
0.5ARSE-G424Shomozygous0.543Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5MRPS5-R284Qhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5SLC41A3-L501Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SLC41A3-T62Ahomozygous0.982Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZXDC-P562Lhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5OPA1-S158Nhomozygous0.482Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5UMPS-G213Ahet unknown0.170Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HGD-Q80Hhomozygous0.742Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MAP4-V628Ihet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.92 (probably damaging)
0.5MAP4-E441Qhet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.931 (probably damaging)
0.5MAP4-S427Yhet unknown0.220Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5MAP4-R23Qhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ITIH3-T340Mhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5GBE1-I334Vhomozygous0.979Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GBE1-R190Ghet unknown0.321Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.025 (benign), Testable gene in GeneTests with associated GeneReview
0.5NR_015394-T113Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CPN2-Q509Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CPN2-Q509Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IDUA-H33Qhomozygous0.750Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.5PANK2-G126Ahomozygous0.917Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRODH-R521Qhomozygous0.887Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRODH-W185Rhet unknown0.826Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRODH-P30Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HADH-L86Phomozygous0.859Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFI-T300Ahomozygous0.957Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TLR6-V427Ahet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TLR6-S249Phomozygous0.855Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5BST1-R125Hhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5POLN-R425Chet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5POLN-G336Shet unknown0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.042 (benign)
0.5POLN-M310Lhet unknown0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5POLN-Q121Hhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5HTT-T1720Nhet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HTT-Y2309Hhomozygous0.459Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HTT-V2786Ihet unknown0.193Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EVC-Y258Hhomozygous0.721Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5EVC-T449Khet unknown0.871Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EVC-E585Ghet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.063 (benign), Testable gene in GeneTests
0.5CLNK-P31Lhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5CCR5-L55Qhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5SLC6A20-T199Mhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5COL5A2-M361Lhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.651 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5ALS2-V368Mhomozygous0.869Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PLEKHM3-K215Nhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.952 (probably damaging)
0.5CPS1-T344Ahomozygous0.583Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5COL3A1-H1353Qhomozygous0.990Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MLC1-C171Fhet unknown0.095Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.04 (benign), Testable gene in GeneTests with associated GeneReview
0.5GLI2-A1156Shomozygous0.536Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GLI2-D1306Nhomozygous0.595Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SHANK3-I245Thomozygous0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-I6534Vhet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-A6277Phomozygous0.691Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-R4389Thomozygous0.724Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-W3348Chet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-S2912Phet unknown0.526Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-H1991Yhet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-V1491Mhet unknown0.453Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-V1479Ihet unknown0.422Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-Y1301Hhet unknown0.668Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-K1027Nhet unknown0.476Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRP2-I4210Lhomozygous0.462Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.993 (probably damaging)
0.5LRP2-K4094Ehomozygous0.744Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LRP2-N3205Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LRP2-G259Rhomozygous0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5ABCA12-S777Thomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATIC-T116Shomozygous0.184Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign)
0.5TTLL3-M502Rhomozygous0.468Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TTLL3-R561*het unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5BTD-P391Shet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN5A-H558Rhet unknown0.215Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TRIOBP-S217Nhomozygous0.413Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests
0.5TRIOBP-Q398Delhet unknown0.308Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TRIOBP-K413Rhet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5TRIOBP-N863Khet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.5TRIOBP-F1187Lhet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests
0.5TRIOBP-H1300Rhet unknown0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.5TRIOBP-W1377Rhomozygous0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.084 (benign), Testable gene in GeneTests
0.5AGXT-P11Lhet unknown0.142Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5AGXT-I340Mhet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATG16L1-T300Ahomozygous0.347Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5OBSL1-R1767Qhomozygous0.491Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-Q1578Rhomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-E1365Dhet unknown0.723Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-R723Khomozygous0.770Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A4-S1400Phet unknown0.504Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A4-V1327Mhet unknown0.464Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A4-P1004Lhomozygous0.528Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A4-P482Shomozygous0.493Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-G43Rhet unknown0.239Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-L141Phomozygous0.760Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-E162Ghomozygous0.764Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-D326Yhet unknown0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYP2D6-T486Shet unknown0.331Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP2D6-C296Rhomozygous0.649Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP2D6-H94Rhet unknown0.112Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP2D6-L91Mhet unknown0.110Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP2D6-P34Shet unknown0.224Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5NAT2-I114Thet unknown0.220Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5NAT2-R197Qhet unknown0.272Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5NAT2-R268Khet unknown0.675Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5COL1A1-T1075Ahomozygous0.961Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADAMTS10-H1101Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADAMTS10-T134Shet unknown0.910Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5TNRC6A-S692Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TNRC6A-Q1112Hhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5KRT6B-Y497Chet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KRT83-H493Yhet unknown0.791Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT83-I279Mhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ADCY6-L239Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ADCY6-A237Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5FUT2-W154*het unknown0.364Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5FUT2-G258Shet unknown0.390Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.954 (probably damaging)
0.5FBXW10-R607Chet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5ZFYVE19-R48Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZFYVE19-S376Ahomozygous0.814Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5BEST3-Y43Hhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ICAM1-K469Ehet unknown0.297Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5MYH8-R1784Ghet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.5MYH8-W1692Rhet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYH2-V970Ihet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.315 (possibly damaging), Testable gene in GeneTests
0.5KRT72-R300Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5KRT72-Y264Chet unknown0.351Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5KRT72-N171Dhet unknown0.348Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.5FANCI-A86Vhet unknown0.219Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCI-C742Shet unknown0.234Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCI-I877Lhet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RASAL3-L638Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5RASAL3-R594Chet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.958 (probably damaging)
0.5COL2A1-E142Dhet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL2A1-T9Shomozygous0.598Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-F2561Yhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5VWF-T1381Ahomozygous0.754Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-Q852Rhomozygous0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-H484Rhet unknown0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.83 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5CLECL1-T135Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CLECL1-S52Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SIX6-H141Nhomozygous0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.5CD300LG-R82Chet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5CDC27-R631*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5CDC27-L619Fhet unknown0.200Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CDC27-F617Lhet unknown0.150Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CDC27-H615Rhet unknown0.429Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CDC27-TL611SAhet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MAPT-P202Lhet unknown0.108Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5MAPT-D285Nhet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview
0.5MAPT-V289Ahet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MAPT-R370Whet unknown0.116Unknown
benign
Low clinical importance,
uncertain
Probably benign.
0.5MAPT-S447Phet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BRCA1-S1634Ghomozygous0.292Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BRCA1-K1183Rhomozygous0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BRCA1-E1038Ghomozygous0.265Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5BRCA1-P871Lhomozygous0.555Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLCO1B3-S112Ahomozygous0.646Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SLCO1B3-M233Ihomozygous0.659Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.131 (benign)
0.5LRRK2-R50Hhomozygous0.927Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-S1647Thet unknown0.294Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-M2397Thomozygous0.526Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5STRC-Q84Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-R1064Whet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-M848Vhomozygous0.954Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-H632Qhet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-V614Ahet unknown0.354Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5JUP-M697Lhomozygous0.520Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ERCC4-R415Qhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5FPR1-E346Ahomozygous0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-N192Khet unknown0.516Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-I11Thomozygous0.831Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SH2B1-T484Ahet unknown0.217Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ZNF491-R151*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5TEP1-S1195Phet unknown0.703Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-R1055Chet unknown0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-K368Rhet unknown0.057Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-S116Phomozygous0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-S106Fhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RDH11-E79Khet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.978 (probably damaging)
0.5OR4L1-D2Nhomozygous0.541Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5OR4L1-G16Vhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.893 (probably damaging)
0.5OR4L1-M40Vhomozygous0.541Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OR4L1-R52Shomozygous0.943Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OR4L1-I83Shifthomozygous0.484Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5OR4L1-M101Khet unknown0.414Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.5OR4L1-G109Shet unknown0.441Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.979 (probably damaging)
0.5OR4L1-I160Thet unknown0.061Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.025 (benign)
0.5MAN2B1-N413Shet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.489 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5MAN2B1-L278Vhet unknown0.236Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MLH3-N826Dhomozygous0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CEACAM5-A46Thet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
0.5CEACAM5-I80Vhet unknown0.188Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.5CEACAM5-V83Ahet unknown0.188Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.404 (possibly damaging)
0.5CEACAM5-I112Vhet unknown0.164Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5CEACAM5-I113Thet unknown0.164Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CEACAM5-K398Ehomozygous0.881Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PSMB11-G49Shet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5CDH11-S373Ahomozygous0.659Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CDH11-V347Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5CDH11-T255Mhet unknown0.177Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.986 (probably damaging)
0.5FANCM-I208Mhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.548 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5DDHD1-G106Ahet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5EDC4-R965Shifthet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5GMPR2-G242Dhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5MYH6-A1662Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYH6-A1130Thet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYH6-V1101Ahet unknown0.422Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYH6-G56Rhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DHRS4L1-R5Ghet unknown0.538Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DHRS4L1-R122Shifthet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5GALC-T641Ahomozygous0.892Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GALC-I562Thet unknown0.446Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.167 (benign), Testable gene in GeneTests with associated GeneReview
0.5GALC-R184Chet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.746 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5FNDC3A-T1017Ahet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5SALL1-V1275Ihomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DDX54-P822Lhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5DDX54-R693Qhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.86 (probably damaging)
0.5DDX54-G6Rhet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SEZ6L2-D518Nhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
0.5RASAL1-R321Hhet unknown0.775Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RASAL1-T58Mhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5RASAL1-V11Lhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5PLEKHG7-D99Ghet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5PLEKHG7-M212Thet unknown0.653Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.016 (benign)
0.5MMAB-M239Khomozygous0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MMAB-R19Qhet unknown0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HNF1A-I27Lhet unknown0.311Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HNF1A-S487Nhet unknown0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HNF1A-S574Ghomozygous0.976Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ENO3-N71Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FANCA-M717Ihet unknown0.016Unknown
benign
Low clinical importance,
likely
Rare polymorphism, not considered pathogenic.
0.5FANCA-G501Shomozygous0.654Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SUCLA2-S199Thomozygous0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FREM2-S745Phomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FREM2-F1070Shet unknown0.527Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FREM2-R2066Chet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5FREM2-T2153Shet unknown0.058Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FREM2-T2326Ihet unknown0.768Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CYP2C8-K399Rhet unknown0.061Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign)
0.5CYP2C8-R139Khet unknown0.078Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.015 (benign)
0.5SPATA7-D2Nhomozygous0.155Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.665 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5CTNS-T260Ihomozygous0.825Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-T665Ihet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-T1056Phomozygous0.838Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-C1506Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-M1808Ihomozygous0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DLL3-L142Qhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.707 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5TRPM5-G900Shet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TRPM5-V335Lhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5TRPM5-V254Ahet unknown0.794Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIF23-T51Ihet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.898 (probably damaging)
0.5NR2E3-T318Shifthomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.5AK094748-D110Ahet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AK094748-S209Shifthet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5HEXA-I436Vhomozygous0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CHRNA10-E355Ahet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5CHRNA10-G347Shet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.098 (benign)
0.5ABCC8-A1369Shomozygous0.755Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BLM-P868Lhet unknown0.057Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.595 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5BLM-V1321Ihet unknown0.052Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC28A2-P22Lhomozygous0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC28A2-S75Rhomozygous0.253Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SLC6A5-F124Shet unknown0.803Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-A162Ghomozygous0.997Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-D463Nhet unknown0.177Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.122 (benign), Testable gene in GeneTests with associated GeneReview
0.5USH1C-E819Dhomozygous0.408Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZDHHC13-K99Rhet unknown0.579Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZDHHC13-Y392Chet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5TACC2-E719Dhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.956 (probably damaging)
0.5TACC2-W1103Rhomozygous0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5TACC2-P1492Lhet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.5TACC2-A2732Thomozygous0.238Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LAMA3-S2834Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-D1370Ghet unknown0.257Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-M703Vhomozygous0.672Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-G428Shomozygous0.771Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-T210Mhet unknown0.557Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PLIN5-R306Whet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5PLIN5-C255Rhet unknown0.888Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.031 (benign)
0.5CTDP1-S61Ahet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CTDP1-T340Mhet unknown0.085Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5KISS1R-L364Hhomozygous0.875Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KAZALD1-G236Dhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.967 (probably damaging)
0.5KAZALD1-G255Ahomozygous0.548Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TNFRSF11A-H141Yhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.909 (probably damaging), Testable gene in GeneTests
0.5TNFRSF11A-A192Vhomozygous0.625Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ATP8B1-A1152Thomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DSC3-R102Khomozygous0.479Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DSC3-S78Thomozygous0.478Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.314 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5BBS4-I354Thomozygous0.399Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DSC2-R798Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.433 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5DEFB126-P106Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MYO5B-L1055LLhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO5B-T126Ahomozygous0.945Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HABP2-T50Mhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EHF-A96Vhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5PRX-G1132Rhomozygous0.978Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN4A-N1376Dhet unknown0.604Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN4A-S524Ghomozygous0.938Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BRIP1-S919Phomozygous0.652Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF480-C3Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CPT1A-A275Thet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RHOD-C134Rhomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RHOD-R144Qhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5PEX16-V116Ihomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TBX4-A35Vhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CEP152-L914Vhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FBN1-C472Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATM-N1983Shomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCA3-L316LFLhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DYNC2H1-H341Yhet unknown0.079Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.3 (possibly damaging), Testable gene in GeneTests
0.5DYNC2H1-E954Khet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DYNC2H1-T1288Ahet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.149 (benign), Testable gene in GeneTests
0.5DYNC2H1-K1413Rhet unknown0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.063 (benign), Testable gene in GeneTests
0.5DYNC2H1-R2871Qhet unknown0.705Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DYNC2H1-A3687Vhet unknown0.292Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMOTL1-G871Shifthet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TRPC6-A404Vhet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.937 (probably damaging), Testable gene in GeneTests
0.5EPN3-R170Hhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.933 (probably damaging)
0.5EPN3-P544Thomozygous0.364Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABCA9-K1306Thet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.996 (probably damaging)
0.5ABCA9-N785Shet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.852 (probably damaging)
0.5ABCA9-R353Hhomozygous0.810Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF737-K516Ehet unknown0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF737-Y369Chet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ZNF737-C78Ghet unknown0.076Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.98 (probably damaging)
0.5MEN1-T546Ahomozygous0.791Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MEN1-R176Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VPS37C-L198Shomozygous0.849Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VPS37C-T8Nhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging)
0.5OR10V1-Q123Rhomozygous0.963Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OR10V1-V117Ahet unknown0.210Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OR10V1-A67Ehet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
0.5MADD-R766*het unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation, Testable gene in GeneTests
0.5PKD1-A4059Vhet unknown0.048Unknown
benign
Low clinical importance,
likely
Probably benign.
0.5PKD1-I4045Vhet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKD1-C3906Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKD1-A3512Vhet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5PKD1-R3435Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKD1-F3066Lhet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5PKD1-P2674Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKD1-H2638Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKD1-T2582Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TSEN54-E4Dhet unknown0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TSEN54-H38Qhet unknown0.166Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5TSEN54-V190Mhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TSEN54-K347Nhet unknown0.430Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.968 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5TSEN54-Q389Phet unknown0.111Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.053 (benign), Testable gene in GeneTests with associated GeneReview
0.5TSEN54-A437Vhet unknown0.515Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.375MYH9-I1626Vhet unknown0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375MYH9-E929Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375AGL-R494Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375AGL-P1067Shet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.984 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.375DOCK8-P97Thet unknown0.512Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests
0.375DOCK8-E237Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375ITGA6-D87Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375ITGA6-A380Thet unknown0.253Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375NOTCH2-A21Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375NOTCH2-C19Whet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25XPC-Q939Khet unknown0.683Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FANCD2-P714Lhet unknown0.246Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL6A3-T3069Ihet unknown0.364Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL6A3-A3012Phet unknown0.843Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL6A3-M2927Thet unknown0.674Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CTLA4-T17Ahet unknown0.463Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign)
0.25ZNF536-R189Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ZNF536-A1048Vhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CD19-L174Vhet unknown0.876Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CD19-R514Hhet unknown0.035Unknown
benign
Low clinical importance,
uncertain
Presumed benign.
0.25SCN1A-A1056Thet unknown0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NOTCH3-A2223Vhet unknown0.553Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25C2orf83-W141*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25C2orf83-E104QhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ARSA-R496Hhet unknown0.048Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ARSA-T391Shet unknown0.423Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ARSA-N350Shet unknown0.241Unknown
benign
Low clinical importance,
well-established
This common variant (HapMap 24.1% allele frequency) causes a loss of a glycosylation site (affecting the size of the protein when studied with gel electrophoresis) but does not affect enzyme activity or stability.
0.25PALB2-Q559Rhet unknown0.160Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25EP300-I997Vhet unknown0.176Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ABCB11-V444Ahet unknown0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25LAMB3-M852Lhet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.526 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25MYO7B-L1152Vhomozygous0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.007 (benign)
0.25MYO7B-L1351Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25DBT-S384Ghet unknown0.869Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DNAI2-A558Thet unknown0.674Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GLIS1-G549Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25GLIS1-T435Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25COG1-N392Shet unknown0.536Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BZRAP1-H1728Rhet unknown0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.25BZRAP1-A1140Phet unknown0.266Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25BZRAP1-E341Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NCF2-H389Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25NCF2-K181Rhet unknown0.471Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GBA-K144Rhet unknown0.619Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GBA-R140Whet unknown0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25XYLT2-T801Rhet unknown0.225Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.25LCE4A-I18Vhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25LCE4A-C48CCSSGGChet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25LCE4A-Q85Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ITGB4-L1779Phet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CPT2-V368Ihet unknown0.477Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25EPB41L3-T950Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25EPB41L3-L293Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PINK1-N521Thet unknown0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DSG2-R773Khet unknown0.221Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25PLOD1-A99Thet unknown0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PLOD1-A120Shet unknown0.152Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.01 (benign), Testable gene in GeneTests with associated GeneReview
0.25GAA-D91Nhet unknown0.008Recessive
benign
Low clinical importance,
uncertain
This is a rare but non-pathogenic coding polymorphism in GAA that creates variant allozyme, known as GAA*2.
0.25GAA-H199Rhet unknown0.574Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GAA-R223Hhet unknown0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GAA-V780Ihet unknown0.720Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RAB42-Q4Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25RAB42-Q4Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25STIL-A86Vhet unknown0.633Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MUTYH-R399Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MUTYH-Q311Hhomozygous0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.017 (benign), Testable gene in GeneTests
0.25KCNQ4-H455Qhet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.191 (benign), Testable gene in GeneTests with associated GeneReview
0.25COL9A2-Q326Rhet unknown0.403Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HMCN1-I2418Thomozygous0.553Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests
0.25HMCN1-E2893Ghet unknown0.617Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.91 (probably damaging), Testable gene in GeneTests
0.25CFH-V62Ihet unknown0.495Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CFH-H402Yhet unknown0.818Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CFH-E936Dhet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.504 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25ZNF439-E13*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ZNF439-L427Shomozygous0.088Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.011 (benign)
0.25AK023048-H112Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25AK023048-L121Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25AK023048-N170Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NR_027336-P160Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NR_027336-V73Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NR_027336-W23*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25C16orf85-E145Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C16orf85-R98Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25LRRC50-K393Rhet unknown0.321Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.683 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25LRRC50-E432Dhet unknown0.113Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.017 (benign), Testable gene in GeneTests with associated GeneReview
0.25LRRC50-P502Lhet unknown0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.25LRRC50-L633Shet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LRRC50-L659Phet unknown0.352Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LRRC50-S675Thet unknown0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25DHODH-K7Qhet unknown0.560Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.004 (benign)
0.25GCSH-S21Lhet unknown0.750Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PKD1L2-M2313Ihomozygous0.883Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-S2207Rhomozygous0.985Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-S2137Fhomozygous0.870Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-L2117Ihet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Y2079Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PKD1L2-A2054Thet unknown0.185Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Y2048Shet unknown0.169Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Q2035Rhet unknown0.210Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-M1866Vhomozygous0.957Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-G1847Rhet unknown0.373Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Q1701Hhet unknown0.294Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Y1699Chet unknown0.198Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-M1645Vhet unknown0.195Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Q1616Rhet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-V1505Mhet unknown0.212Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-N1330Dhomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-S1326Phomozygous0.734Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-G785Chet unknown0.193Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-L711Phet unknown0.805Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-R636Hhet unknown0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-P512Lhet unknown0.751Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-I506Vhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PKD1L2-K416Qhet unknown0.788Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-P301Ahet unknown0.524Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-R252Whet unknown0.560Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-N236Shifthet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25PKD1L2-E221Ghomozygous0.708Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Q220*het unknown0.173Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.25PKD1L2-V183Ihet unknown0.212Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-G129Dhet unknown0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Q120Lhet unknown0.451Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-W73Rhet unknown0.549Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-V20Ahet unknown0.548Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MOGS-P293Shet unknown0.619Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MOGS-D239Nhet unknown0.561Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.031 (benign), Testable gene in GeneTests with associated GeneReview
0.25OTOF-R82Chet unknown0.229Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.25NLRP1-R1366Chet unknown0.085Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.159 (benign)
0.25NLRP1-V1241Lhet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NLRP1-M1184Vhomozygous0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NLRP1-M1119Vhet unknown0.080Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NLRP1-V1059Mhet unknown0.165Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.25NLRP1-T995Ihet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.442 (possibly damaging)
0.25NLRP1-T878Mhet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.384 (possibly damaging)
0.25NLRP1-T782Shet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25NLRP1-T246Shet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NLRP1-L155Hhet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.064 (benign)
0.25NLRP1-R147Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ZNF317-Q19Hhet unknown0.108Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ZNF317-Q19Hhet unknown0.108Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25MUC16-V14466Lhomozygous0.888Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-P13914Lhet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-M13472Thomozygous0.573Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-R13341Hhomozygous0.590Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-T13332Ihet unknown0.285Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-S12514Thomozygous0.616Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-E12479Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MUC16-E12448Khet unknown0.148Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-E12290Khomozygous0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-T12140Mhet unknown0.238Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-T11937Ihet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MUC16-V11097Mhomozygous0.468Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-S10912Rhet unknown0.207Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-T10155Ihet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-L10013Phomozygous0.931Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-I9920Thomozygous0.848Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-V9909Ihet unknown0.392Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-H9513Qhomozygous0.410Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-A9502Thet unknown0.483Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-K9429Nhet unknown0.191Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-G9380Dhet unknown0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-I9213Thomozygous0.846Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-V8969Mhet unknown0.378Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-D8344Ahet unknown0.583Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-N8301Thomozygous0.873Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-D7923Ahet unknown0.184Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-S7415Ghet unknown0.189Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-I7272Vhet unknown0.200Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-T7063Ahet unknown0.354Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-A6810Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MUC16-S6330Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MUC16-V6306Mhet unknown0.190Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-M6048Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MUC16-I5751Thomozygous0.938Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-H5741Dhomozygous0.826Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-P5537Shomozygous0.805Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-N5228Ihomozygous0.796Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-S5045Phet unknown0.215Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-I4902Vhet unknown0.184Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-H4166Nhet unknown0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-T4077Shet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-I4034Fhet unknown0.425Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-E3961Khet unknown0.169Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-G3826Ehet unknown0.239Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-T3788Ihet unknown0.238Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-T3723Mhet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-R3573Hhet unknown0.239Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-V3530Ihet unknown0.240Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-K3506Thet unknown0.247Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-R3499Mhet unknown0.239Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-R3417Qhet unknown0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-S3337Lhet unknown0.239Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-S3215Ghet unknown0.240Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-S3190Thet unknown0.677Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-A3101Shet unknown0.213Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-T2891Ihet unknown0.220Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-P2881Shet unknown0.220Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-T2506Ahet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-Y1898Dhet unknown0.220Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-K1400Nhomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-K1266Nhomozygous0.815Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-S652SQShet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MUC16-V651Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SPECC1-S274Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SPECC1-M293Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SPECC1-W721*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25KRT14-A94Thet unknown0.269Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KRT14-C63Yhet unknown0.976Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TLR5-F822Lhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TLR5-N592Shet unknown0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.25GUCY2D-A52Shet unknown0.360Recessive
benign
Low clinical importance,
uncertain
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.
0.25GUCY2D-L782Hhet unknown0.165Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25AIPL1-D90Hhet unknown0.210Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.029 (benign), Testable gene in GeneTests with associated GeneReview
0.25KLF11-Q62Rhet unknown0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging), Testable gene in GeneTests
0.25TPO-A257Shet unknown0.387Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TPO-A373Shet unknown0.188Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25TPO-S398Thet unknown0.684Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging), Testable gene in GeneTests
0.25TPO-T725Phet unknown0.524Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TPO-V847Ahomozygous0.674Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25CHRNB1-E32Ghet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.288 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25UGT2B7-Y268Hhet unknown0.727Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25COL6A1-S890Lhet unknown0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CWF19L2-Y894Chet unknown0.253Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CWF19L2-N105Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25GTF2IRD2P1-R561*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25GTF2IRD2P1-A487Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25GTF2IRD2P1-V397Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25GTF2IRD2P1-T376Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25GTF2IRD2P1-F47Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ALG9-V289Ihet unknown0.332Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.907 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25KCNE1-S38Ghet unknown0.710Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25ELN-G422Shet unknown0.225Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ELN-G581Rhet unknown0.048Unknown
benign
Low clinical importance,
uncertain
Probably a benign SNP, not rare (4.8% allele frequency in GET-Evidence data).
0.25COL1A2-P549Ahet unknown0.907Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TBC1D10C-L221Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TBC1D10C-D222Chet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NOS3-D298Ehet unknown0.844Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MYO7A-S1666Chet unknown0.610Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PON2-S311Chet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PON2-A148Ghet unknown0.257Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.25ALG8-N222Shet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25SNX19-L878Rhet unknown0.808Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SNX19-L618Fhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TXNDC3-R43Khet unknown0.291Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TXNDC3-C208Rhet unknown0.740Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TXNDC3-I493Thet unknown0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.074 (benign), Testable gene in GeneTests with associated GeneReview
0.25KRT6C-R182Qhet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.805 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25COL9A1-Q621Rhet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL9A1-S339Phet unknown0.507Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SIX5-P635Shet unknown0.533Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25SIX5-L556Vhet unknown0.833Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC28A1-L140LVhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLC28A1-D521Nhet unknown0.226Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25LCA5-G656Dhet unknown0.377Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LCA5-D26Ahet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25LCA5-L24Shet unknown0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25RRP1B-T237Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25RRP1B-K238Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25RRP1B-L436Phomozygous0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NPSR1-N107Ihet unknown0.462Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.25NPSR1-Q344Rhet unknown0.309Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25C12orf60-K65Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C12orf60-N103Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C12orf60-M184Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SLC22A2-S270Ahet unknown0.876Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ARID2-V622Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ARID2-R623Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SOD2-V16Ahet unknown0.362Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MLL3-D1319Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MLL3-C1114Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MLL3-R1092*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25SPTBN2-R1880Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SPTBN2-V1034Ahet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25SPTBN2-S825Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25RET-G691Shet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.16 (benign), Testable gene in GeneTests with associated GeneReview
0.25PTF1A-S263Phet unknown0.654Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests
0.25C10orf113-D100Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C10orf113-R62Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C10orf113-S22Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CUBN-E3002Ghet unknown0.088Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CUBN-I2984Vhet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CUBN-S2717Whomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CUBN-C2162Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CUBN-L2153Fhet unknown0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CUBN-R1810Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CUBN-P1559Shomozygous0.565Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CUBN-F253Shomozygous0.801Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ERCC6-Q1413Rhet unknown0.145Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.25ERCC6-R1213Ghet unknown0.159Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25ERCC6-M1097Vhet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NOC2L-E714Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NOC2L-E705Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NOC2L-S556Lhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.056 (benign)
0.25NOC2L-I300Vhomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TRIB3-Q84Rhet unknown0.188Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C10orf26-S323PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C10orf26-H333Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25C10orf26-A341Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CALHM1-L86Phet unknown1.000Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PCDH15-G385Shet unknown0.252Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDH23-N1349Dhet unknown0.772Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDH23-T1996Shet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BAG3-P407Lhet unknown0.150Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GPR123-A442Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25GPR123-G496Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25GPR123-R539Ghet unknown0.600Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TG-T728Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TG-R1999Whet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TG-W2501Rhomozygous0.566Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.031 (benign), Testable gene in GeneTests
0.25TG-R2530Qhet unknown0.586Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25NBN-E185Qhet unknown0.338Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25POLA2-G583Rhet unknown0.118Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.024 (benign)
0.25EHBP1L1-V133Lhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25EHBP1L1-E148Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25EHBP1L1-R307Qhet unknown0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.19 (benign)
0.25EHBP1L1-V538Ghet unknown0.411Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.992 (probably damaging)
0.25EHBP1L1-D569Vhomozygous0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CHRNA2-T125Ahet unknown0.644Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MKKS-G532Vhet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.067 (benign), Testable gene in GeneTests with associated GeneReview
0.25MKKS-R517Chet unknown0.215Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25GPT-H14Nhet unknown0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25H19-G355Rhet unknown0.359Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25H19-V94Ihet unknown0.361Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25H19-W38Rhet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SETX-I2587Vhet unknown0.591Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SETX-T1855Ahet unknown0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SETX-I1386Vhet unknown0.494Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SETX-G1252Rhet unknown0.494Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SETX-D1192Ehet unknown0.598Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TH-V108Mhet unknown0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC35C1-I227Vhet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TRPM6-K1584Ehet unknown0.274Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.854 (probably damaging), Testable gene in GeneTests
0.25TRPM6-V1393Ihet unknown0.160Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.013 (benign), Testable gene in GeneTests
0.25MUT-I671Vhet unknown0.522Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MUT-A499Thet unknown0.110Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SYNE2-I574Thet unknown0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.294 (possibly damaging), Testable gene in GeneTests
0.25SYNE2-M1969Thet unknown0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests
0.25SYNE2-A2284Vhet unknown0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests
0.25SYNE2-S2359Nhet unknown0.676Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
0.25SYNE2-A2395Thet unknown0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SYNE2-S2802Ghet unknown0.864Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.25SYNE2-I2942Vhet unknown0.622Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SYNE2-D3253Hhet unknown0.684Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests
0.25SYNE2-H3309Rhet unknown0.647Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25SYNE2-K3523Qhet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.75 (possibly damaging), Testable gene in GeneTests
0.25SYNE2-N3982Hhet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.846 (possibly damaging), Testable gene in GeneTests
0.25SYNE2-W4001Qhet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SYNE2-L5186Mhet unknown0.708Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SERPINA1-V237Ahet unknown0.293Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25XRCC3-T241Mhet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.188 (benign)
0.25WFS1-V333Ihet unknown0.889Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25WFS1-R611Hhet unknown0.442Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25AHNAK2-P5397Ahet unknown0.435Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.149 (benign)
0.25AHNAK2-Y5184Dhet unknown0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25AHNAK2-G5139Ehet unknown0.273Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.417 (possibly damaging)
0.25AHNAK2-T4664Ahet unknown0.558Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25AHNAK2-M4536Lhet unknown0.426Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.267 (possibly damaging)
0.25AHNAK2-L4326Phet unknown0.548Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25AHNAK2-L4321Vhet unknown0.540Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.25AHNAK2-V4278Ahet unknown0.466Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25AHNAK2-M3869Vhet unknown0.558Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.04 (benign)
0.25AHNAK2-D3793Nhet unknown0.555Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.04 (benign)
0.25AHNAK2-G3654Ehet unknown0.555Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.204 (possibly damaging)
0.25AHNAK2-V3363Ahet unknown0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.009 (benign)
0.25AHNAK2-P3336Lhet unknown0.333Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.25AHNAK2-M3260Thet unknown0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.04 (benign)
0.25AHNAK2-R2862Shet unknown0.563Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.021 (benign)
0.25AHNAK2-P2387Shet unknown0.533Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.011 (benign)
0.25AHNAK2-L2333Phet unknown0.548Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25AHNAK2-P2014Shet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.25AHNAK2-E1856Dhet unknown1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25AHNAK2-V1610Ahet unknown0.596Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25AHNAK2-P1562Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.058 (benign)
0.25AHNAK2-E1148Dhet unknown0.974Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25AHNAK2-V1133Ihet unknown0.421Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.25AHNAK2-E481Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TLR1-H720Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25TLR1-S602Ihet unknown0.727Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ATXN3-V212Mhet unknown0.358Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ZNF224-M118Vhet unknown0.793Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZNF224-H162Lhet unknown0.780Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.262 (possibly damaging)
0.25ZNF224-K640Ehet unknown0.593Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25AK298931-E88Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25AK298931-W38*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25AK298931-T4Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C14orf45-R58Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C14orf45-M79Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25C14orf45-MS79KVhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C14orf45-D230VhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C14orf45-K496Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25UGT2B15-K523Thet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25UGT2B15-Y85Dhet unknown0.500Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ABCG2-V12Mhet unknown0.122Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25HPS4-Q620Hhet unknown0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25HPS4-H601Yhet unknown0.807Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HPS4-V547Mhet unknown0.780Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HPS4-L438Vhet unknown0.344Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HPS4-E224Ghet unknown0.779Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDAN1-R891Chet unknown0.246Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25CDAN1-Q596Rhet unknown0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDAN1-Q107Lhet unknown0.175Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC24A1-T37Shet unknown0.322Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC24A1-S331Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PDZRN3-A783Vhet unknown0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.042 (benign)
0.25PDZRN3-L121Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ATXN7-K264Rhet unknown0.103Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.949 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25ATXN7-V862Mhet unknown0.485Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NPHS1-E117Khet unknown0.297Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.25FLNB-D1157Nhet unknown0.538Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25FLNB-V1471Mhet unknown0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.02 (benign), Testable gene in GeneTests with associated GeneReview
0.25MYH15-T1125Ahet unknown0.180Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.007 (benign)
0.25MYH15-T949Ihet unknown0.200Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.127 (benign)
0.25MYH15-H504Yhet unknown0.578Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.997 (probably damaging)
0.25DRD3-G9Shet unknown0.482Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25TTBK2-L8Phet unknown0.560Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SPG11-F463Shet unknown0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25EIF2B5-I587Vhet unknown0.370Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25IQCB1-C434Yhet unknown0.198Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.25HEG1-M1039Thet unknown0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HEG1-V980Lhomozygous0.718Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HEG1-T912Shet unknown0.234Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.535 (possibly damaging)
0.25HEG1-S672SSSSSSShet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25HEG1-F602Shet unknown0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HEG1-S305Phet unknown0.444Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.25HEG1-L163Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PCNT-T539Ihet unknown0.147Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.009 (benign), Testable gene in GeneTests
0.25PCNT-G704Ehet unknown0.855Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PCNT-T879Ahet unknown0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.707 (possibly damaging), Testable gene in GeneTests
0.25PCNT-V1038Ahet unknown0.847Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PCNT-R1163Chet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.25PCNT-I1639Vhet unknown0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PCNT-Q2659Hhet unknown0.572Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.849 (possibly damaging), Testable gene in GeneTests
0.25PCNT-Q2792Rhet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.25TPTE2P1-G96Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TPTE2P1-I70Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25TRIM15-S324Nhet unknown0.155Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25TPTE2-Q239*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25TPTE2-I157Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MTRR-K377Rhet unknown0.260Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MTRR-H622Yhet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDHR2-V424Ahomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDHR2-N1122Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CDHR2-Q1124Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CDHR2-T1128Mhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-L145Vhet unknown0.191Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-G198Shet unknown0.337Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-T204Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MICA-I236Thet unknown0.570Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-R274Qhet unknown0.538Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MICA-G318Shifthet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25HSPA1L-T493Mhet unknown0.868Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign)
0.25LRP1-P2689Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25LRP1-Q2900Phomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25COL11A2-E276Khet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.651 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25CEP290-K838Ehet unknown0.108Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQA1-C34Yhet unknown0.547Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQA1-F41Shet unknown0.544Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQA1-Y48Fhet unknown0.116Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQA1-Q152Hhet unknown0.526Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQA1-Q152Hhet unknown0.526Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQA1-Q198Ehet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SACS-V3369Ahet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.769 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25B3GALTL-E370Khet unknown0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.25TGFB1-P10Lhet unknown1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FBN2-S2580Lhet unknown0.091Dominant
benign
Low clinical importance,
uncertain
Probably benign -- initially associated with congenital contractual arachnodactyly, but later reports classify it as a nonpathogenic polymorphism.
0.25FBN2-V965Ihet unknown0.714Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RPGRIP1-K192Ehet unknown0.446Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GHR-I544Lhet unknown0.473Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.25VCAN-G428Dhet unknown0.215Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.923 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25IRS2-G1057Dhet unknown0.232Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.024 (benign)
0.25IRS2-R412Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SH3TC2-A468Shet unknown0.198Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25CLN5-K368Rhet unknown0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP7B-V1140Ahet unknown0.495Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP7B-R952Khet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP7B-K832Rhet unknown0.455Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.461 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25ATP7B-V456Lhet unknown0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.25ATP7B-S406Ahet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25TSC22D1-S945Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TSC22D1-V713VQPVhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25TSC22D1-P652Shet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TSC22D1-V448Delhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25TSC22D1-P80Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0TBP-Q103Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0MEFV-R202Qhet unknown0.111Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.019 (benign), Testable gene in GeneTests with associated GeneReview
0HFE-H63Dhet unknown0.086Recessive
pathogenic
Low clinical importance,
uncertain
There have been some hypotheses that this variant contributes to causing hereditary hemachromatosis, possibly as a compound heterozygote, but some others treat it as a polymorphism. Cys282Tyr is the classic causal variant and itself has very low penetrance. Mouse studies indicates this variant has a similar but weaker effect; if it has any effect at all its penetrance may be quite low and/or require modifier alleles.
0BCKDHB-F132Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview

Input file format: CGIVAR

Genome build: b37

Genome coverage: 2,772,919,299 bases (97.0% of callable positions, 90.0% of total positions)

Coding region coverage: 32,948,437 bases (99.0% of all genes, 99.5% of genes with clinical testing available)

Chromosomes: chr1, chr10, chr11, chr12, chr13, chr14, chr15, chr16, chr17, chr18, chr19, chr2, chr20, chr21, chr22, chr3, chr4, chr5, chr6, chr7, chr8, chr9, chrM, chrX, chrY

Gene search

"GENE" or "GENE A123C":

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