hu71E59D - GET-Evidence variant report

Variant report for hu71E59D

Log file: 




VariantClinical
Importance
ImpactAllele
freq
Summary
1CBS-I278THighLikelyLikely pathogenic

Recessive, Carrier (Heterozygous)
0.00288158This recessive mutation causes homocystinuria in a recessive manner and is found in patients responsive to pyridoxine treatment.1
2C3-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
3OPTN-M98KModerateUncertainUncertain pathogenic

Unknown, Heterozygous
0.0613497This variant was initially reported to be a risk factor for glaucoma, but subsequent reports have failed to find a statistically significant association. It may have a modifier effect, with carriers of the variant having lower intraocular pressure on average -- pressures that might be considered normal in other individuals would be abnormally high for carriers of this variant.1
4MTRR-I49MLowLikelyLikely pathogenic

Recessive, Homozygous
0.451199This common variant (HapMap allele frequency of 31.3%) in a protein involved in folate (B9) and cobalamin (B12) metabolism and is often reported as "MTRR I22M" (an alternative transcript position). Mothers homozygous for this variant are associated with having around a increased chance of a child with Down syndrome (risk of 0.4%, average risk in population is 0.25%). Notably, age plays a far larger role in the rate of Down syndrome (risk is 4.5% for a mother 45-years-of-age), and it is unknown how this variant may combine with the effect of age. There are conflicting reports associating this variant with incidence of neural tube defects, possibly when combined with MTHFR A222V.1
5MBL2-R52CLowLikelyLikely pathogenic

Recessive, Carrier (Heterozygous)
0.048615This variant is associated with mannose binding protein deficiency which leads to impaired complement system immune response to mannose-rich pathogens. Patients homozygous for this allele or compound heterozygous are likely to have increased susceptibility to infection, but Hellemann et al. report heterosis for intensive care outcomes in heterozygous subjects. The wild-type version of this gene is known as variant allele A, while this is called variant allele D. See G54D (variant B) and G57E (variant C).1
6SCNN1G-E197KLowUncertainUncertain pathogenic

Dominant, Heterozygous
0.00641383May cause slight increased risk of rare, CFTR-like disease.1
7GLI3-G727RLowUncertainUncertain pathogenic

Dominant, Heterozygous
0.00548429Reported to cause postaxial polydactyly in a dominant manner. However it was only observed in one family, another linked variant in the region may have been causal. Data in the exome variant server shows 1 in 100 carry this variant, contracting the polydactyly effect -- if that hypothesis were true, this variant is common enough that it would account for a large fraction of cases (i.e. many other publications would exist confirming the hypothesis). Other variants in this gene cause Pallister-Hall syndrome, which causes many traits including polydactyly and hypothalamic hamartoma (a congenital brain malformation that can cause seizures).1
8WFS1-R611HLowUncertainUncertain not reviewed

Recessive, Homozygous
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
9FANCG-R513QLowUncertainUncertain pathogenic

Dominant, Heterozygous
0.00715746Rare polymorphism. Hypothesized to increase susceptibility to childhood acute myeloid leukemia, but the numbers in the study failed to have statistical significance.1
10RNASEL-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
11H6PD-R453QLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
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
12HFE-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
13TP53-P72RLowUncertainUncertain pathogenic

Unknown, Homozygous
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
14SP110-L425SLowUncertainUncertain pathogenic

Unknown, Heterozygous
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
15BRCA2-N372HLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.23656This is a common variant of BRCA2 (HapMap allele frequency of 23%). The variant is weakly associated with an increased chance of breast cancer, and zygosity of the variant is associated with sex of children: male children are more likely to be homozygous for this variant, female children are more likely to be heterozygous.1
16ABCC6-R1268QLowUncertainUncertain pharmacogenetic

Unknown, Heterozygous
0.218907This common polymorphism appears to not have a significant phenotypic impact. A few studies report weak but significant associations with plasma lipids (in Inuits) and thalidomide toxicity.1
17rs1544410LowUncertainUncertain pharmacogenetic

Unknown, Heterozygous
0.351562rs1544410 is a Vitamin D Receptor (VDR) single nucleotide polymorphism. It is unlikely that it has functional significance because it is located in an intron (Liu et. al.), but it is in strong linkage disequilibrium with rs731236 (Dvornyk et al), which is located in an exon. 1
18FUT2-W154XModerateWell-establishedWell-established protective

Recessive, Homozygous
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
19PRNP-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
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
21CFH-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
22KCNJ11-K23ELowLikelyLikely protective

Unknown, Heterozygous
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
23MTR-D919GLowUncertainUncertain protective

Complex/Other, Heterozygous
0.217234This variant was weakly associated with a protective effect vs. colorectal cancer, but only in individuals with low alcohol consumption. 1
24IRS2-G1057DLowUncertainUncertain protective

Unknown, Homozygous
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
25DTNBP1-P272SLowUncertainUncertain protective

Recessive, Carrier (Heterozygous)
0.0351366Possibly a slight protective effect against colorectal cancer if homozygous.1
26TYR-R402QLowWell-establishedWell-established benign

Complex/Other, Heterozygous
0.204964This is a frequent pigmentation polymorphism in Europeans that affects function of the Tyrosinase gene. It is associated with blue instead of green eyes and sun sensitivity. For the most part this variant is benign, but many individuals with ocular albinism (which affects only the eyes) carry this variant along with another more severe variant in the same gene.1
27ARSA-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
28CACNA1S-L458HLowLikelyLikely benign

Unknown, Heterozygous
0.27282Common polymorphism1
29MLH1-I219VLowUncertainUncertain benign

Dominant, Heterozygous
0.239822Computational evidence, functional assays, and case/control studies suggest this variant is probably benign.1
30LOXL1-R141LLowUncertainUncertain benign

Complex/Other, Homozygous
0.255899Associated with exfoliative glaucoma & syndrome (XFG & XFS) in various populations, but with contradicting results (protective in Caucasians, pathogenic in Japanese). Based on this it seems the variation itself -- although it affects protein structure -- is not itself causing disease. Instead it is likely associated with other nearby causal variants. As such, it is evaluated as benign by GET-Evidence (which focuses on reporting causal variants). See detailed variant report for disease risk associations.1
31GFAP-D295NLowUncertainUncertain benign

Unknown, Heterozygous
0.0333767Reported as a nonpathogenic polymorphism.1
32BRCA1-R841WLowUncertainUncertain benign

Unknown, Heterozygous
0.00269567Other variants in this gene are associated with breast and ovarian cancer. A 1996 paper proposed this variant as causing increased risk, but their observations lacked statistical significance and no later publications have supported that hypothesis.1
33FLG-R3530SLowUncertainUncertain benign

Unknown, Heterozygous
0.108849Tentatively classified as benign, although predicted by Polyphen 2 to be damaging. Other more severe null mutations (frameshift and nonsense) in this gene are reported to cause ichthyosis vulgaris in a recessive manner.1
34DSPP-R68WLowUncertainUncertain benign

Unknown, Heterozygous
0.143045Probably benign. One report linked this to causing dentinogenesis Imperfecta type II in a large Swedish family, but subsequent publications have observed this is a common variant and conclude it is a nonpathogenic polymorphism.1
35ERCC6-R1230PLowUncertainUncertain benign

Unknown, Heterozygous
0.0695297Probably benign.1
36OTOF-R773CLowUncertainUncertain benign

Unknown, Heterozygous
0.0161654Presumed benign. Seen in 2.4% of randomly chosen chromosomes, contradicting a severe pathogenic hypothesis.1
37APOB-Y1422CLowUncertainUncertain benign

Unknown, Homozygous
0.999628This position is almost certainly an error in the HG18 reference sequence. 1
38GUCY2D-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
39HR-T1022ALowUncertainUncertain benign

Recessive, Carrier (Heterozygous)
0.0969511Probably benign. One study implicated it in causing alopecia universalis, but a later report noted the variant has an allele frequency inconsistent with the rarity of that disease.1
40SLC45A2-L374FLowUncertainUncertain benign

Unknown, Homozygous
0.691764Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma.1
41RP1-N985YLowUncertainUncertain benign

Unknown, Homozygous
0.348671Probably benign. One report linked this variant to high triglycerides, but a later paper found a nearby SNP with similar association and suggests that both findings are caused by linkage to an undiscovered causal variant.1
42PCSK9-G670ELowUncertainUncertain benign

Unknown, Homozygous
0.888269This variant is likely benign. 1
43TAS2R38-I296VLowUncertainUncertain benign

Unknown, Heterozygous
0.463376This variant is associated with "taster" status of PTC, along with 49P and 262A. Due to linkage disequilibrium, the independent effects of positions 296 and 262 is unclear. The presence of 49P confers taster status in a dominant fashion, but in the absence of 49P, the presence of 262A/296V is still positively associated with tasting PTC.1
44TPCN2-G734ELowUncertainUncertain benign

Unknown, Heterozygous
0.286166Pigmentation allele.1
45TAS2R38-A49PLowUncertainUncertain benign

Unknown, Heterozygous
0.431121This variant is strongly associated with causing the "taster" phenotype of phenylthiocarbamine (PTC) in a dominant manner.1
46PTCH1-P1315LLowUncertainUncertain benign

Unknown, Homozygous
0.29631Common polymorphism, presumed benign.1
VariantPrioritization scoreAllele
freq
Num of
articles
Zygosity and Prioritization Score Reasons

Exome coverage: 32938769 / 33282720 = 98.97%

GeneChromosomeCoverageMissingLengthMissing regions
1AGRN10.965623981753012116138955554, 955558, 955568, 955570-955583, 955586-955596, 955616-955623, 955653-955654, 955714, 976209-976220, 976225-976234, 976244, 976664, 981888, 981891, 983600-983745
2GABRD10.970566593083154013591950864-1950871, 1950879-1950891, 1950905, 1950908-1950919, 1950923-1950928
3PEX1010.9979612640163129812337927, 2337930
4ESPN10.9072124756335323825656488378-6488392, 6488426-6488432, 6500709-6500715, 6500830-6500868, 6501059-6501065, 6501097-6501103, 6505732-6505738, 6505849-6505860, 6505888-6505920, 6508701-6508733, 6508760-6508766, 6511907-6511933, 6512106-6512133, 6512148-6512156
5PLEKHG510.97554092191917831896529186-6529188, 6533413, 6534094-6534098, 6534110, 6534123, 6534195, 6534198-6534205, 6534215-6534224, 6534511-6534512, 6534527-6534530, 6534536-6534551, 6534608, 6534625-6534647, 6557382-6557383
6KIF1B10.9945416901938629531310357042-10357044, 10425549-10425557, 10425584-10425600
7PEX1410.992945326278668113410659341, 10684445-10684451
8TARDBP10.994377510040167124511082356-11082362
9PLOD110.999542124542121218411994866
10CLCNKA10.979651162790742206416353846-16353852, 16354391-16354397, 16356467-16356473, 16356985-16356991, 16358268-16358274, 16360141-16360147
11CLCNKB10.996608527131787206416378722-16378728
12ATP13A210.9861699125035349354317313604-17313644, 17318589-17318596
13PINK110.998854524627722174620960069, 20960257
14ALPL10.995555555555567157521902396-21902402
15HSPG210.99521857923497631317622263648-22263710
16WNT410.9232954545454581105622447969-22447972, 22469339-22469415
17SEPN110.89028776978417183166826126722-26126904
18HPCA10.99828178694158158233359439
19COL9A210.998067632850244207040767514, 40767519-40767521
20KCNQ410.9856321839080530208841249766-41249787, 41249844, 41249972, 41300718-41300723
21SLC2A110.994590939824218147943395424, 43395428-43395433, 43395656
22MPL10.998427672955973190843806173, 43806176, 43814979
23DHCR2410.995486782720837155155352601-55352603, 55352608-55352611
24PCSK910.9870129870129927207955524254-55524280
25ABCA410.9975080621518617682294461683, 94463569-94463572, 94497417-94497428
26COL11A110.99798424042514115457103364280-103364282, 103364324-103364329, 103540335-103540336
27GSTM110.19786910197869527657110230496-110230531, 110230792-110230817, 110230835-110230867, 110231295-110231305, 110231310-110231315, 110231324-110231355, 110231670-110231702, 110231709-110231751, 110231847-110231947, 110232893-110232941, 110232947-110232988, 110233076-110233179, 110235877, 110235882, 110235886-110235889, 110235892-110235896
28AMPD110.99420677361854132244115216674-115216686
29NOTCH210.99150485436893637416120539778-120539784, 120539933-120539939, 120548022-120548058, 120572609-120572610, 120612000-120612009
30FLG10.955604792384754112186152276279-152276285, 152276374-152276380, 152276441-152276462, 152276473-152276493, 152276526, 152276540, 152276548-152276549, 152276580-152276631, 152276671, 152276699, 152277014, 152277021, 152277027, 152277035, 152277044, 152277055, 152277277-152277295, 152277428-152277473, 152277717, 152277822, 152277881-152277887, 152278044-152278052, 152278083-152278096, 152278408-152278437, 152278555, 152278689, 152278811-152278817, 152278853-152278859, 152279016-152279022, 152279055-152279068, 152279211-152279217, 152279380-152279409, 152279524-152279530, 152279743, 152280347, 152280468-152280474, 152280556-152280576, 152280594-152280617, 152280736, 152280759, 152280782, 152280788, 152280864, 152280900, 152281007-152281008, 152281039, 152281225-152281231, 152281287-152281333, 152281534, 152281641-152281649, 152281745-152281774, 152283407-152283433, 152284149-152284155, 152284374-152284380, 152284546-152284552, 152285134-152285140
31SEMA4A10.99518810148731112286156131169, 156146550-156146553, 156146558-156146563
32NTRK110.9983270598076142391156834199-156834202
33KCNJ1010.9973684210526331140160012061-160012063
34MPZ10.9832689832689813777161279695-161279707
35TBX1910.98292501855976231347168274313-168274335
36F510.99700374531835206675169510325-169510344
37HMCN110.999231133191391316908185833636-185833648
38CFH10.9883658008658433696196716353-196716395
39CFHR110.998992950654581993196801078
40USH2A10.99993593439682115609216595466
41PSEN210.9948032665181971347227071483-227071489
42GJC210.95833333333333551320228345490, 228345633-228345638, 228345788-228345792, 228345796, 228345800-228345802, 228345807, 228346225-228346229, 228346355-228346356, 228346399-228346428, 228346450
43ACTA110.9991181657848311134229567927
44LYST10.99947396107312611406235875357-235875362
45ACTN210.9996275605214212685236920806
46MTR10.9978936282253883798237044059-237044065, 237044076
47RYR210.99986580783682214904237821250, 237821311
48NLRP310.9996785599485713111247588056
49NET1100.987158012283642317915497036-5497042, 5498628-5498643
50CUBN100.99871228844739141087217142065, 17142071, 17142074-17142081, 17146559-17146562
51RET100.9781763826606973334543572707-43572779
52ERCC6100.998661311914326448250740793-50740798
53CHAT100.93991989319092135224750822258-50822264, 50822271-50822295, 50822299-50822314, 50822328-50822329, 50822332-50822415, 50833652
54EGR2100.999301187980431143164573492
55CDH23100.9999005568814611005673464771
56VCL100.9970631424375910340575854122-75854131
57LDB3100.9954212454212510218488466317-88466326
58BMPR1A100.995622263914957159988683143-88683149
59HPS1100.998575498575532106100177373-100177375
60ABCC2100.999784389823214638101591811
61FBXW4100.9975786924939531239103436109-103436111
62HPS6100.9991408934707922328103825291, 103825773
63COL17A1100.99732977303071124494105816845-105816856
64EMX2100.994729907773394759119302951-119302953, 119302957
65BAG3100.99189814814815141728121431965-121431978
66HTRA1100.90159390159391421443124221169-124221280, 124221328, 124221332-124221340, 124221343, 124221355-124221368, 124221377, 124221391-124221392, 124221485-124221486
67SLC25A22110.996913580246913972792622, 792880, 794806
68CTSD110.99596448748991512391785035-1785038, 1785066
69IGF2110.998593530239117112154308
70TH110.99936507936508115752191922
71KCNQ1110.989660265878882120312466344, 2466499-2466517, 2466572
72CDKN1C110.793901156677181969512905931-2905963, 2905969-2905980, 2905985, 2906069-2906084, 2906090-2906126, 2906129-2906141, 2906151-2906175, 2906181, 2906201-2906229, 2906232-2906238, 2906406-2906411, 2906417, 2906437-2906443, 2906502-2906509
73ABCC8110.9953645174884122474617452427-17452448
74USH1C110.996666666666679270017531121, 17531127-17531129, 17531315, 17531320-17531323
75ANO5110.9930707512764419274222277000-22277008, 22277018-22277025, 22277033-22277034
76PAX6110.995271867612296126931811482-31811487
77WT1110.9974259974264155432449502-32449505
78PDHX110.995351925630817150635006224-35006230
79EXT2110.996754751970337215744228353-44228359
80PEX16110.999039385206531104145939276
81BEST1110.9897610921501718175861725740-61725757
82SLC22A12110.98555956678724166264367264-64367287
83SPTBN2110.99972117663462717366455342, 66458828
84PC110.9960418433700914353766619965-66619977, 66620045
85AIP110.99697885196375399367257559, 67257562-67257563
86LRP5110.9909240924092444484868080206-68080211, 68080213-68080214, 68080217-68080240, 68080246-68080248, 68080264-68080271, 68193545
87CPT1A110.996124031007759232268549417-68549424, 68552383
88IGHMBP2110.998658618376934298268704532-68704535
89DHCR7110.998599439775912142871146584, 71146608
90MYO7A110.999548736462093664876922282-76922283, 76922295
91TYR110.995597484276737159089018058-89018064
92TRPC6110.9996423462088712796101359813
93DYNC2H1110.996446504441874612945102988555-102988557, 102991514-102991526, 103043820-103043825, 103043838-103043856, 103106437, 103173860-103173863
94ACAT1110.9984423676012521284108012332-108012333
95ATM110.9998909606367919171108202632
96ALG9110.9994553376906311836111742164
97APOA1110.997512437810952804116706800, 116706804
98ROBO3110.9997596731554914161124748650
99WNK1120.99580360889635307149862833-862840, 863230-863247, 1017798-1017801
100VWF120.992063492063496784426131925-6131932, 6131955-6131982, 6132003-6132033
101TNFRSF1A120.99926900584795113686438609
102ATN1120.988804925832634035737045599, 7045892-7045930
103KIF21A120.99979943842761498639726125
104IRAK4120.9927693420101210138344180206-44180210, 44180213-44180217
105MLL2120.99494402311304841661449426157, 49426165, 49426571, 49426660-49426663, 49426672-49426677, 49426896-49426901, 49426906-49426908, 49426910-49426911, 49426915, 49427119, 49427251-49427253, 49427257-49427269, 49427275-49427277, 49427286, 49427679, 49431288-49431293, 49431301-49431318, 49440506-49440511, 49440514-49440516, 49442990-49442993
106KRT81120.994729907773398151852682999-52683005, 52685096
107KRT86120.9780971937029432146152695759-52695768, 52695851-52695857, 52697949-52697955, 52702276-52702283
108KRT6B120.964601769911560169552844243, 52844246, 52844265, 52844337-52844346, 52845528-52845534, 52845598-52845604, 52845662-52845686, 52845713-52845719, 52845801
109KRT6C120.93451327433628111169552865235-52865241, 52865900-52865928, 52866060, 52867056-52867062, 52867091-52867108, 52867187-52867193, 52867256-52867264, 52867321-52867346, 52867457-52867463
110KRT6A120.9628318584070863169552882264-52882270, 52886553-52886559, 52886638-52886644, 52886707-52886715, 52886772-52886797, 52886908-52886914
111KRT5120.989283699943619177352908868-52908878, 52908889-52908896
112KRT1120.9891472868217121193553069223-53069243
113ITGA7120.998832457676594342656086666-56086669
114CDK4120.99122807017544891258142378-58142385
115GNS120.998794454490662165965141669-65141670
116LEMD3120.998538011695914273665563626-65563627, 65563743-65563744
117CEP290120.99946236559144744088472928-88472930, 88473001
118SLC17A8120.9949152542372991770100774581-100774582, 100797904-100797910
119TRPV4120.9996177370030612616110252475
120ATXN2120.96600710299341343942112036718, 112036740, 112036748-112036753, 112036756-112036810, 112036819-112036823, 112036934-112036936, 112036979, 112036982, 112037013-112037033, 112037050-112037070, 112037106, 112037206-112037215, 112037219-112037226
121PTPN11120.9988776655443321782112910816-112910817
122EIF2B1120.992374727668857918124116943-124116949
123SACS130.9999272197962211374023912779
124B3GALTL130.997327989311964149731774231-31774234
125BRCA2130.9997075168177831025732969053-32969055
126FREM2130.9970557308096728951039261565-39261592
127SUCLA2130.99928160919541139248528276
128RB1130.999641191245071278749051518
129SLITRK1130.9928263988522215209184453767-84453774, 84453778-84453784
130ZIC2130.95622263914947701599100634399, 100634402, 100634405, 100635004-100635040, 100637709, 100637803-100637805, 100637820-100637844, 100637850
131SLC7A7140.999348958333331153623282123
132PABPN1140.921824104234537292123790702-23790705, 23790708-23790711, 23790718-23790723, 23790860, 23790873-23790874, 23790885-23790889, 23790897, 23790912-23790947, 23790958-23790962, 23790973-23790977, 23790988-23790989, 23790992
133MYH7140.999311294765844580823886484-23886487
134FOXG1140.76326530612245348147029236552-29236571, 29236588-29236591, 29236620-29236653, 29236659-29236948
135NKX2-1140.997512437810953120636986712, 36986847-36986848
136C14orf104140.998408910103424251450101363, 50101368-50101370
137SYNE2140.9991314418066182072464488711-64488713, 64519043-64519046, 64519049-64519051, 64560125-64560132
138ZFYVE26140.99986876640421762068244319
139ESRRB140.997380484610354152776906014, 76964679, 76964685-76964686
140TTC8140.999354005167961154889337897
141ATXN3140.9714548802946631108692537352-92537382
142AMN140.97577092511013331362103396606-103396634, 103396641-103396642, 103396811, 103396920
143INF2140.921333333333332953750105173754-105173765, 105173768-105173784, 105173859-105174124
144NIPA1150.8202020202020217899023086234-23086411
145SNRPN150.973720608575381972325222954-25222972
146UBE3A150.997336377473367262825616251-25616257
147TRPM1150.9975062344139712481231295211-31295222
148CHST14150.9761273209549127113140763418, 40763486, 40763496-40763499, 40763522-40763540, 40763557-40763558
149STRC150.9829204204204291532843892844-43892850, 43896306-43896312, 43897496-43897505, 43897544-43897560, 43910436-43910444, 43910863-43910903
150SPG11150.999181669394446733244888988-44888991, 44888995-44888996
151DUOX2150.9965569184420116464745399072-45399087
152GATM150.999213836477991127245670610
153PPIB150.984639016897081065164455120-64455123, 64455136-64455141
154MAP2K1150.994077834179367118266782884-66782890
155HCN4150.9928017718715426361273615055-73615062, 73616172, 73616182-73616187, 73616207, 73616210-73616211, 73659861-73659863, 73659866, 73660089-73660091, 73660097
156POLG150.9892473118279640372089876814-89876815, 89876818, 89876823-89876854, 89876858-89876862
157MESP2150.9899497487437212119490320135-90320146
158BLM150.999529854254822425491303508-91303509
159HBZ160.9067599067599140429203953-203991, 204312
160IGFALS160.99896480331263219321841130-1841131
161GFER160.9967637540453126182034314, 2034320
162TSC2160.99926253687316454242111874-2111877
163PKD1160.93711276332094812129122141060-2141061, 2141066-2141068, 2141080-2141081, 2141085, 2141143-2141175, 2141424-2141452, 2147191-2147196, 2147203-2147211, 2147914-2147952, 2149962-2149983, 2150042-2150072, 2150209-2150215, 2150250-2150256, 2150293-2150299, 2150497-2150503, 2153679, 2153685, 2153701-2153741, 2154570-2154611, 2154617-2154622, 2154626, 2154641, 2156018-2156024, 2156174-2156198, 2156241-2156251, 2156399-2156404, 2156426-2156448, 2156489-2156526, 2156901-2156908, 2158386-2158392, 2159252, 2159403-2159409, 2159452-2159490, 2159712-2159718, 2160134-2160140, 2160718-2160725, 2160769-2160775, 2163180-2163186, 2164416-2164422, 2164527-2164569, 2164919-2164925, 2166559-2166595, 2166976-2166982, 2167490-2167504, 2167670-2167673, 2167870-2167878, 2167969-2168001, 2168056-2168075, 2168209-2168215, 2168396, 2185544-2185599, 2185612, 2185616, 2185623-2185625, 2185636-2185690
164SLX4160.99981834695731155053639152
165CREBBP160.993587119661624773293778146, 3778407-3778412, 3778415-3778420, 3778428-3778430, 3778436-3778446, 3778449-3778456, 3778848, 3779211, 3779448-3779451, 3779463-3779465, 3779468-3779469, 3929864
166ALG1160.935483870967749013955121898, 5121904-5121905, 5132600-5132606, 5132636, 5132657-5132659, 5134776-5134821, 5134853-5134882
167PMM2160.9905533063427877418895707-8895713
168ABCC6160.998448581560287451216313509-16313515
169UMOD160.997919916796674192320359865-20359868
170OTOA160.997953216374277342021742176-21742182
171SCNN1B160.999479979199171192323359985
172PALB2160.999438360011232356123625407, 23647479
173CLN3160.993166287015959131728497679-28497683, 28497689-28497692
174TUFM160.999269005847951136828857392
175CD19160.999401555954521167128947899
176PHKG2160.9664209664209741122130760155-30760156, 30760160, 30760166-30760188, 30760222-30760236
177FUS160.9917773561037313158131195284, 31195287-31195294, 31195304-31195307
178SLC5A2160.998018821198614201931500051-31500054
179NOD2160.997438360550758312350745054-50745061
180SALL1160.9964779874213814397551175656-51175660, 51175665-51175672, 51175683
181SLC12A3160.9961202715809912309356901082-56901093
182CNGB1160.993343982960625375657983271-57983295
183HSD11B2160.876026272578151121867465191-67465318, 67465330-67465348, 67469995, 67470000-67470002
184CDH3160.99959839357431249068718727
185COG8160.99945622620991183969373221
186HP160.9746109746109731122172091295, 72091307-72091308, 72091311, 72092201-72092227
187GAN160.999442586399111179481348773
188MLYCD160.933198380566899148283932800-83932834, 83932843-83932895, 83932993, 83932999-83933002, 83933092-83933095, 83933102, 83933114
189LRRC50160.996786042240597217884199441-84199447
190FOXF1160.996491228070184114086544210-86544213
191JPH3160.999554962171781224787723721
192CYBA160.99829931972789158888709978
193SPG7160.998324958123954238889579413-89579416
194FANCA160.9974816849816811436889836978, 89842165-89842168, 89842172, 89842178-89842182
195CTNS170.988362427265171412033552189-3552201, 3560030
196GP1BA170.991145833333331719204837162-4837168, 4837212-4837213, 4837240-4837247
197PITPNM3170.99931623931624229256358704, 6358780
198GUCY2D170.9987922705314433127907176, 7910834-7910836
199HES7170.94395280235988386788024989-8025018, 8025665-8025668, 8025671, 8025680-8025681, 8025686
200MYH3170.998626137729698582310547963-10547970
201ELAC2170.993147924224117248112896189-12896197, 12921226-12921233
202COX10170.994744744744747133214095345-14095351
203RAI1170.9940569830449234572117697094-17697111, 17697117-17697130, 17698875, 17701589
204MYO15A170.984706881903141621059318024013, 18024018, 18024021-18024024, 18024144-18024184, 18024266, 18024359-18024370, 18024381-18024420, 18024426-18024456, 18024476, 18024494, 18024500, 18024521-18024525, 18024795-18024797, 18024819, 18025228-18025233, 18057089, 18057120-18057122, 18057139, 18070950-18070951, 18070955, 18070960-18070964
205UNC119170.96127247579532872326879394, 26879401-26879403, 26879407-26879413, 26879416, 26879419-26879424, 26879459, 26879476-26879478, 26879482-26879486, 26879492
206NF1170.9909624413145577852029422328-29422347, 29422370-29422387, 29556198-29556236
207TCAP170.976190476190481250437822187-37822193, 37822203-37822207
208KRT10170.9794871794871836175538975100-38975120, 38975284-38975285, 38975295-38975300, 38975321, 38978763-38978768
209KRT14170.9598308668076157141939738749-39738755, 39741304-39741309, 39742829-39742872
210KRT16170.9310829817158998142239766265-39766281, 39768490-39768496, 39768563-39768569, 39768658-39768698, 39768721-39768746
211KRT17170.9553502694380358129939780377-39780420, 39780465-39780471, 39780516-39780522
212STAT5B170.997038917089687236440371359, 40371362-40371363, 40371368-40371371
213NAGS170.9912772585669814160542084994-42085007
214GRN170.9910213243546616178242427818, 42427823-42427837
215BRIP1170.9917333333333331375059760760-59760772, 59760891-59760901, 59926599-59926602, 59926609-59926611
216ACE170.97067074725835115392161554471-61554526, 61554533-61554567, 61561826, 61574570-61574581, 61574585-61574595
217SCN4A170.999818544728721551162038721
218SOX9170.997385620915034153070119961-70119964
219SEPT9170.92277115275412136176175494605-75494740
220GAA170.9954529555788713285978086390-78086402
221SGSH170.9754804506295637150978194050-78194055, 78194071-78194101
222NPC1180.9966119364086513383721115540-21115542, 21123533, 21152125-21152128, 21166299-21166303
223LAMA3180.99730053989202271000221495336-21495350, 21501437-21501448
224DSC2180.997782705099786270628669419-28669424
225DSG2180.999702114983621335729078237
226TTR180.97972972972973944429178579-29178587
227LOXHD1180.9981916817359912663644104524-44104535
228MYO5B180.9933297277807837554747352944-47352980
229SMAD4180.999397227245331165948603075
230ATP8B1180.9952076677316318375655328527, 55328529, 55398954-55398969
231CCBE1180.993447993447998122157133994-57134001
232TNFRSF11A180.9686655861696458185159992586-59992643
233CTDP1180.99965349965351288677457965
234ELANE190.82960199004975137804853262-853370, 853376-853403
235KISS1R190.97577276524645291197920328-920349, 920376-920381, 920385
236GAMT190.996296296296338101401330-1401332
237MAP2K2190.923524522028269212034123781-4123872
238C3190.99979967948718149926707122
239PNPLA6190.99924698795181339847615900-7615901, 7615903
240TYK2190.9971941638608310356410463182-10463189, 10464229-10464230
241DNM2190.999617298124761261310940865
242PRKCSH190.995589161940777158711558341-11558343, 11558349-11558351, 11558549
243CACNA1A190.9944156362185942752113318639, 13318657, 13318671-13318690, 13318698-13318703, 13318785, 13318794-13318801, 13318805, 13318808-13318811
244NOTCH3190.98191214470284126696615272492, 15281294-15281343, 15311615-15311682, 15311692-15311698
245JAK3190.9899259259259334337517940918-17940922, 17940929, 17940932-17940939, 17940965-17940968, 17941366-17941372, 17945490-17945496, 17949196-17949197
246COMP190.9947229551451212227418896553-18896560, 18901662-18901664, 18901670
247CEBPA190.9507892293407653107733792746, 33792755-33792757, 33792858-33792866, 33792883, 33792916-33792921, 33793008-33793010, 33793021, 33793033-33793039, 33793058, 33793227-33793232, 33793237, 33793240-33793253
248SCN1B190.950433705080554080735521725-35521764
249PRODH2190.996275605214156161136303312-36303315, 36303325-36303326
250NPHS1190.999194847020933372636336617-36336619
251RYR1190.99880928755706181511739055766-39055770, 39055776, 39055824-39055825, 39055837, 39055857-39055859, 39055902, 39055943, 39055977, 39055990-39055991, 39056016
252ACTN4190.998538011695914273639138512, 39216471-39216473
253DLL3190.998922994076472185739993575, 39998125
254PRX190.9938440492476127438640901314-40901317, 40901323-40901328, 40903457, 40909700, 40909707-40909721
255TGFB1190.995737425404945117341858921, 41858927-41858928, 41858931-41858932
256ATP1A3190.99945622620992367842471000, 42480591
257BCAM190.9819819819819834188745312411-45312421, 45312424-45312446
258SIX5190.99729729729736222046270012-46270017
259DMPK190.9693121693121758189046285529-46285535, 46285550-46285599, 46285610
260FKRP190.997983870967743148847259655, 47259669, 47259742
261CRX190.972790048342615-48342623, 48342630-48342647
262DBP190.99795501022495297849138850-49138851
263MED25190.999108734402852224450340117-50340118
264PNKP190.999361430395911156650365654
265MYH14190.9972181312387517611150770211-50770220, 50770227, 50770231-50770235, 50780131
266KCNC3190.82409850483729400227450823503-50823535, 50823542-50823552, 50823561, 50823566, 50823570-50823598, 50826278-50826281, 50826326-50826343, 50826457-50826459, 50831470-50831486, 50831496-50831571, 50831583, 50831710-50831711, 50831714, 50831717, 50831794-50831796, 50831815-50831816, 50831822-50831828, 50831839-50831845, 50831950, 50831971, 50831979, 50831988, 50832014-50832015, 50832025-50832032, 50832152-50832154, 50832158, 50832175-50832339
267KLK4190.99869281045752176551412652
268PRKCG190.9799426934097442209454393154-54393159, 54393170, 54393209-54393214, 54393220-54393240, 54393261, 54396628, 54401245, 54401315-54401319
269NLRP7190.9839434810533150311455451167-55451216
270TNNI3190.99671592775041260955667693-55667694
271KLF1120.9857050032488622153910183844-10183848, 10183861-10183867, 10183875-10183884
272LPIN120.999625888514781267311955330
273MYCN20.995698924731186139516082597-16082598, 16085821-16085824
274APOB20.99846625766871211369221227186-21227188, 21227199-21227201, 21266752-21266756, 21266764-21266766, 21266776-21266778, 21266783, 21266786, 21266790-21266791
275POMC20.99751243781095280425384464, 25384471
276OTOF20.9896563229896662599426693550-26693577, 26699760, 26699772-26699778, 26699788-26699793, 26699811, 26699816-26699821, 26699905-26699908, 26700100-26700108
277C2orf7120.999741401603311386729293945
278ALK20.999588731235862486329419725-29419726
279SPAST20.88438681793625214185132289014-32289048, 32289068, 32289076, 32289086-32289088, 32289091-32289096, 32289108-32289256, 32289282-32289288, 32289304-32289315
280CYP1B120.997549019607844163238302435-38302438
281ABCG520.998466257668713195644058949, 44058962, 44058986
282MSH620.996571148665214408348010558, 48023063-48023075
283LHCGR20.9933333333333314210048982767-48982775, 48982787-48982791
284SPR20.99872773536896178673114625
285ALMS120.99440179142674701250473612997-73613050, 73613053, 73613056-73613060, 73613168-73613169, 73827996-73828002, 73828342
286SLC4A520.999707088459291341474477491
287DCTN120.998696898618715383774590488-74590490, 74598106-74598107
288MOGS20.997215592680997251474689605-74689611
289GGCX20.998243302591134227785788522-85788525
290SFTPB20.999127399650961114685892790
291REEP120.958745874587462560686564609-86564633
292EIF2AK320.9928379588182624335188926730-88926732, 88926736-88926739, 88926744-88926759, 88926767
293ZAP7020.99946236559141186098340830
294RANBP220.978708010335922069675109345648-109345655, 109352023-109352029, 109357110-109357116, 109363167-109363195, 109365376-109365381, 109367751-109367757, 109368104-109368110, 109371632-109371662, 109378643-109378651, 109383268-109383274, 109383315-109383321, 109383354-109383360, 109383672-109383678, 109384208-109384244, 109384505-109384511, 109384561-109384580, 109388162-109388164
295NPHP120.99115044247788182034110886767-110886782, 110920711-110920712
296MERTK20.996123000112656319-112656330
297GLI220.98340684730099794761121745829-121745830, 121746113, 121746139-121746153, 121746156-121746173, 121746184-121746187, 121746231-121746239, 121746247-121746256, 121746300, 121746305, 121746329-121746330, 121746349-121746350, 121746353-121746361, 121746370, 121746373, 121746377, 121746508, 121746512
298PROC20.99206349206349111386128178882-128178891, 128180506
299CFC120.997023809523812672131280370, 131280373
300RAB3GAP120.9996605566870312946135870721
301NEB20.99899869830782019974152432765, 152432769-152432786, 152432801
302SCN2A20.999169159189156018166211026-166211030
303ABCB1120.99697428139183123966169781261-169781272
304AGPS20.98988366211431201977178346862-178346872, 178362437-178362438, 178362452-178362454, 178362463-178362466
305TTN20.9996508658526935100248179392352, 179404991-179404995, 179425467-179425468, 179425471, 179447815, 179485577-179485588, 179523794-179523802, 179536872, 179659157-179659159
306COL3A120.99750056805272114401189871669-189871676, 189872661-189872663
307SLC40A120.996503496503561716190426902, 190428315, 190428334-190428337
308PMS120.99535548410146132799190717483-190717495
309STAT120.9995561473590812253191859798
310ALS220.9997989545637314974202569885
311FASTKD220.99390529770277132133207638949-207638961
312ABCA1220.99820236260914147788215797412, 215797419-215797420, 215890465-215890475
313PNKD20.9982728842832521158219204569-219204570
314OBSL120.98365840801265935691220416271, 220416286, 220416289, 220417316-220417319, 220435674-220435675, 220435689-220435690, 220435697, 220435700, 220435727-220435771, 220435917-220435951
315COL4A320.9986036305605475013228155494-228155500
316CHRND20.99871299871321554233390944, 233390954
317UGT1A120.9981273408239731602234668952-234668954
318COL6A320.99863645898888139534238244878, 238277385-238277396
319C20orf54200.9978723404255331410744343, 744346-744347
320AVP200.90909090909091454953063330-3063357, 3063400-3063403, 3063639-3063641, 3063659, 3063678, 3063727, 3063731, 3063747-3063749, 3063776, 3063779, 3063798
321PANK2200.99824868651489317133870093, 3870099, 3870102
322SNTA1200.9927536231884111151832031339-32031341, 32031386, 32031396, 32031400-32031401, 32031404, 32031407, 32031412-32031413
323GDF5200.9913678618857913150634025128, 34025202, 34025387-34025397
324HNF4A200.9747368421052636142543052758-43052793
325CTSA200.995991983967946149744520227-44520229, 44520238-44520240
326CD40200.99520383693046483444757584-44757587
327SALL4200.998734977862114316250400983, 50418882-50418884
328GNAS200.998715478484264311457429070-57429073
329COL9A3200.99562043795629205561448482, 61459307-61459314
330CHRNA4200.995222929936319188461992472-61992479, 61992496
331KCNQ2200.9900725467735826261962038657-62038669, 62073759-62073770, 62103711
332SOX18200.68744588744589361115562680079-62680081, 62680512-62680869
333BACH1210.996381727725018221130715033-30715040
334IFNGR2210.9329388560157868101434775850-34775915, 34775921-34775922
335RUNX1210.9979209979213144336164454, 36164457, 36164608
336HLCS210.999541494727191218138309515
337TMPRSS3210.9897435897435914136543810133-43810146
338CBS210.99818840579713165644485317-44485319
339AIRE210.9908424908424915163845712986, 45713002, 45714284-45714294, 45714326-45714327
340ITGB2210.99913419913422231046308650, 46308701
341COL18A1210.99943019943023526546875487, 46875490-46875491
342COL6A1210.9889860706187234308747401781-47401812, 47401820, 47401843
343COL6A2210.9915032679738626306047531447-47531472
344FTCD210.994464944649459162647565744, 47565748, 47571597-47571603
345PCNT210.99780241734093221001147822245-47822263, 47858097-47858099
346PRODH220.9894620077648419180318910411-18910419, 18923544-18923550, 18923559, 18923745, 18923750
347GP1BB220.99355877616747462119711869-19711872
348TBX1220.84610215053763229148819748428-19748599, 19748657, 19748668-19748670, 19753446-19753480, 19753517-19753520, 19753952-19753956, 19753965-19753969, 19753979-19753980, 19753993, 19754289
349HPS4220.993844696969713211226868319-26868331
350CHEK2220.9852356615559326176129083906-29083916, 29083948-29083954, 29091837-29091844
351NF2220.997762863534684178830074309-30074312
352TIMP3220.99842767295597163633197992
353MYH9220.9960904300526923588336688074-36688079, 36688085-36688101
354TRIOBP220.9926739926739952709838119869, 38119882-38119884, 38119894, 38119902, 38120013-38120019, 38120030-38120068
355EP300220.99917184265016724541546118, 41546131, 41546135-41546138
356TNFRSF13C220.99099099099099555542322259, 42322317-42322319, 42322698
357CYB5R3220.99889624724062190643045312
358TRMU220.999210110584521126646731727
359ALG12220.996591683708255146750303629, 50304177-50304180
360MLC1220.9664902998236338113450502581-50502618
361TYMP220.9813664596273327144950964302-50964308, 50964449, 50964693, 50964716, 50964719-50964720, 50964731-50964740, 50964748-50964752
362SHANK3220.81064073226545993524451113070-51113132, 51135951-51136143, 51158733-51159058, 51159068-51159125, 51159143-51159204, 51159323-51159326, 51159463-51159465, 51159929-51159932, 51159944, 51169163, 51169237, 51169240, 51169295-51169301, 51169316-51169348, 51169410, 51169418-51169421, 51169443-51169452, 51169456-51169466, 51169513-51169721, 51169730
363FANCD230.9911684782608739441610088296-10088311, 10088340-10088346, 10107165-10107171, 10114941-10114949
364CRTAP30.99834162520732120633155599, 33155905
365SCN5A30.999830191883171588938645476
366TMIE30.99782135076253145946742958
367TMIE30.99363057324841347146751074-46751076
368COL7A130.999547255234864883548625228-48625230, 48627094
369AMT30.997524752475253121249455073, 49455078-49455079
370RFT130.999384993849941162653156394
371FLNB30.999487770521194780958062887-58062890
372ATXN730.89746300211416291283863898275-63898422, 63898443-63898578, 63898593-63898599
373GBE130.99952584163111210981754600
374CASR30.9996910719802313237122003619
375NPHP330.973203105434511073993132438549-132438579, 132438593-132438598, 132438606, 132438615-132438616, 132438619-132438621, 132438625-132438631, 132438641-132438674, 132441000, 132441004, 132441015, 132441086, 132441091, 132441095-132441098, 132441102, 132441105-132441110, 132441121-132441126, 132441151
376PCCB30.9969135802469151620136048793-136048797
377FOXL230.98320070733864191131138664796, 138664800-138664803, 138664866-138664869, 138664872-138664879, 138664886, 138664889
378SOX230.99371069182396954181430230-181430231, 181430537-181430540
379ALG330.9992406985573311317183961354
380IDUA40.98725790010194251962980901, 980908, 995815-995818, 996248, 996268-996271, 996620, 996627-996628, 996635, 996690, 996941-996945, 997171, 997193-997194, 997197
381FGFR340.99876390605686324271803601, 1808598, 1808622
382SH3BP240.99946149703823118572819970
383HTT40.991515537172558094293076602-3076603, 3076604-3076670, 3076672, 3076676, 3076679-3076686, 3240312
384DOK740.987458745874591915153465103-3465113, 3465155-3465156, 3465268-3465271, 3465277-3465278
385EVC40.995300436388051429795713178-5713180, 5713184, 5713202-5713208, 5809955-5809956, 5809978
386CNGA140.9925438596491217228047954652, 47954659-47954670, 47954675-47954678
387KIT40.997611736608677293155599300-55599306
388GNRHR40.99898682877406198768610290
389ALB40.9857923497267826183074283248-74283273
390PKD240.9803921568627557290788928921-88928932, 88928936-88928959, 88928963, 88928968, 88928997-88929007, 88929320-88929327
391SNCA40.99054373522459442390756702-90756705
392CISD240.9411764705882424408103808506-103808522, 103808569-103808575
393ANK240.99991578238167111874114161716
394BBS740.97951582867784442148122754456-122754498, 122775914
395SMAD140.99141630901288121398146463767-146463778
396NR3C240.9996615905245312955149075986
397GLRB40.98795180722892181494158041708-158041725
398GK40.9957882069795471662166199244-166199250
399SDHA50.95338345864662931995218488, 218498-218504, 223682-223683, 236553-236559, 236646-236684, 251500-251506, 254571-254577, 254606-254621, 256469-256475
400TERT50.985878199470434833991294573, 1294576-1294577, 1294923, 1295027-1295031, 1295043, 1295052-1295059, 1295066-1295095
401SDHA50.96636085626911113271593258-1593267, 1594535
402MTRR50.99770431588613521787889208-7889210, 7889216-7889217
403DNAH550.99747747747748351387513714599, 13916482-13916505, 13916519-13916520, 13917256-13917263
404NIPBL50.9983363042186614841537036571, 37048658-37048663, 37048667-37048669, 37048674-37048677
405LIFR50.999089253187613329438506170-38506172
406ITGA250.999717992103781354652379180
407SMN250.984180790960451488569359242-69359247, 69362949, 69372350-69372356
408SMN250.99209039548023788570234666-70234671, 70238373
409RASA150.9796437659033164314486669985-86669992, 86670064-86670083, 86670092-86670095, 86670100-86670113, 86670120-86670135, 86672738, 86674321
410GPR9850.99947148670789101892190144578-90144584, 90144594-90144595, 90144599
411PCSK150.9955791335101710226295746569-95746578
412LMNB150.9988642816581521761126113467, 126113478
413FBN250.999885570431418739127641521
414MYOT50.9973279893119641497137221794-137221797
415MATR350.9980345911949752544138658531-138658532, 138658538-138658540
416DIAPH150.9981670594396473819140953361, 140953564-140953569
417TCOF150.99701561065197134356149771552-149771563, 149777940
418ITK50.995169082125691863156671302-156671310
419GRM650.97380410022779692634178421659-178421664, 178421671, 178421679-178421682, 178421841-178421860, 178421897-178421900, 178421904-178421910, 178421914, 178421920-178421945
420FLT450.99266862170088304092180076488, 180076493, 180076496-180076497, 180076519-180076544
421FOXC160.980144404332133316621611303, 1611461-1611462, 1611465-1611469, 1611485, 1611522-1611524, 1611549-1611556, 1611656-1611659, 1611700, 1611703-1611707, 1611811, 1612012-1612013
422TUBB2B60.972346786248133713383225546-3225575, 3225602-3225608
423F13A160.993633469758981421996251087-6251100
424DTNBP160.996212121212124105615663066-15663068, 15663073
425ATXN160.9681372549019678244816327489-16327493, 16327861-16327933
426HLA-H60.969333333333332375029856393, 29856593-29856614
427TNXB60.9709694142042556192931976896-31976929, 31977388-31977394, 31978480-31978487, 31980071-31980077
428CYP21A260.9798387096774230148832006220-32006225, 32006230-32006232, 32006317, 32006337, 32007782-32007793, 32007862-32007868
429TNXB60.99677900856312411272932009631-32009664, 32010123-32010129
430HLA-DQA160.973958333333332076832610387-32610406
431HLA-DQB160.8422391857506412478632630025, 32632575-32632650, 32632711, 32632714, 32632742-32632786
432SYNGAP160.9265873015873296403233388042-33388108, 33393614-33393649, 33393661-33393680, 33410897-33410899, 33410903-33410909, 33411485-33411531, 33411552-33411667
433MOCS160.996860282574576191139874693-39874694, 39874704-39874707
434PEX660.999660210669381294342946653
435RSPH960.986762936221421183143612880-43612890
436RUNX260.9693486590038348156645390367, 45390433-45390438, 45390447-45390480, 45390485, 45390504-45390508, 45390511
437PKHD160.99991820040911222551611564
438EYS60.9967143614202431943564940572, 64940575-64940580, 65596712-65596735
439RIMS160.9960622169718420507972678697, 72945421-72945431, 73001664, 73001667-73001672, 73108764
440LCA560.9942693409742112209480198913-80198924
441NDUFAF460.99242424242424452897339100-97339103
442SIM160.9991308126901322301100901685, 100901688
443OSTM160.9950248756218951005108395756-108395759, 108395779
444FIG460.99632892804699102724110053840-110053841, 110064313-110064318, 110081478, 110081481
445GJA160.99042645778938111149121769101-121769111
446ENPP160.9992800575953922778132129308, 132129352
447SYNE160.998863378040463026394152542027-152542029, 152553251-152553253, 152702204, 152711557-152711563, 152774723-152774738
448PARK260.996423462088751398161969945, 161969969-161969972
449TBP60.92549019607843761020170871012, 170871015, 170871024-170871043, 170871046, 170871049-170871052, 170871055, 170871058-170871071, 170871079-170871103, 170871132-170871140
450LFNG70.8596491228070216011402559496-2559546, 2559549-2559554, 2559602-2559628, 2559642-2559648, 2559671-2559683, 2559688-2559715, 2559719-2559727, 2559738-2559739, 2559742-2559751, 2559755, 2559758, 2559777, 2559880-2559881, 2559895, 2559899
451PMS270.993047508690611825896013046-6013052, 6045523-6045533
452TWIST170.750410509031215260919156793-19156944
453DNAH1170.99874742116121171357221630922-21630924, 21630930-21630936, 21630940, 21630945-21630950
454DFNA570.998658618376932149124742432-24742433
455HOXA1370.8311910882605197116727239082-27239084, 27239091-27239095, 27239295-27239318, 27239326-27239339, 27239348-27239353, 27239356-27239415, 27239423-27239427, 27239432-27239434, 27239437-27239474, 27239507, 27239540-27239541, 27239547-27239582
456GARS70.998648648648653222030634583-30634585
457GHRHR70.992924528301899127231008462-31008470
458RP970.99099099099099666633148853-33148858
459GLI370.9978916297701910474342005592-42005601
460CCM270.9775280898876430133545039933-45039962
461EGFR70.99807321772647363355086985, 55086992, 55086999, 55087002, 55087012-55087013, 55229225
462GUSB70.996421267893667195665432835-65432841
463ASL70.994982078853057139565552345-65552348, 65553832-65553833, 65553843
464KCTD770.97356321839082387066094141-66094163
465SBDS70.968127490039842475366456158-66456164, 66458359-66458375
466NCF170.941818181818184882572637917, 72639957-72639989, 72640033-72640039, 72644230-72644236
467ELN70.999080459770112217573442571-73442572
468NCF170.9181585677749496117374193639-74193671, 74197322-74197329, 74197911-74197917, 74202425-74202428, 74202996-74203039
469POR70.9906999510523719204375614447-75614465
470AKAP970.99530876833845551172491609624-91609625, 91609631, 91631658-91631695, 91714896-91714902, 91714909-91714915
471COL1A270.9970738844184312410194049554, 94049725-94049728, 94049911, 94055310-94055315
472SLC26A570.9977628635346852235103018926-103018930
473RELN70.998939963380551110377103202089-103202099
474SLC26A370.9991285403050122295107432342, 107432348
475CFTR70.97209092955211244443117188713-117188753, 117188760-117188800, 117188838-117188877, 117230407-117230408
476IMPDH170.98555555555556261800128049826-128049828, 128049833-128049840, 128049846-128049859, 128049867
477FLNC70.9990217657128988178128489594, 128498187-128498193
478ATP6V0A470.98969480776853262523138394375, 138394402-138394421, 138394428-138394431, 138394457
479BRAF70.997392438070462301140624396, 140624407-140624410, 140624414
480PRSS170.82795698924731128744142458448-142458454, 142458483-142458512, 142459676-142459719, 142459874-142459878, 142460332-142460372, 142460744
481CNTNAP270.99899899899943996145813986-145813988, 145813997
482KCNH270.953448275862071623480150644694-150644695, 150644718-150644728, 150644731, 150644739-150644746, 150644749, 150644763-150644810, 150648897-150648903, 150655555, 150671849, 150671855-150671866, 150671872-150671886, 150671912-150671918, 150671924-150671939, 150671998, 150674929-150674930, 150674973-150675001
483SHH70.98992080633549141389155595766-155595768, 155595802, 155595806-155595809, 155595816, 155595819, 155595831-155595833, 155595836
484MNX170.806799336650082331206156798437-156798442, 156799257-156799262, 156799265-156799296, 156802541-156802542, 156802545, 156802551-156802555, 156802648-156802794, 156802851-156802852, 156802898-156802903, 156802913-156802938
485MCPH180.99720893141946725086293569-6293575
486SFTPC80.99494949494949359422021057-22021059
487NEFL80.9797794117647133163224813660-24813692
488ANK180.998419388830359569441550358-41550359, 41550362-41550368
489HGSNAT80.9858490566037727190842995667, 42995670, 42995678-42995692, 42995699-42995700, 42995718, 43046659-43046665
490CHD780.99966644429623899461654443, 61735176-61735177
491CNGB380.997119341563797243087683320-87683326
492NBN80.999558498896251226590996788
493GDF680.9897660818713514136897157153-97157155, 97157159, 97157411, 97157418, 97172835-97172842
494VPS13B80.99991662497916111994100123423
495KCNQ380.99083619702176242619133492746, 133492757-133492779
496NDRG180.98818565400844141185134266782-134266795
497CYP11B180.95039682539683751512143956374-143956396, 143958513-143958533, 143958572-143958602
498CYP11B280.9728835978836411512143993972-143993990, 143994724, 143996536-143996556
499PLEC80.9924581999288510614055144995498-144995504, 144995572, 144995575, 144995800-144995809, 144996232-144996252, 144996255, 144996373-144996382, 144997090-144997107, 144997890-144997895, 144997902, 144998917, 144999243, 145003339-145003356, 145003831, 145003834, 145006152-145006155, 145006159, 145006398-145006399, 145006805
500GPT80.96914822266935461491145731272-145731298, 145731304-145731309, 145731484-145731492, 145731682-145731685
501RECQL480.99090157154673333627145739070-145739094, 145741873-145741880
502DOCK890.9996825396825426300452045, 452052
503VLDLR90.99694889397407826222622214, 2622217-2622223
504KCNV290.976190476190483916382717997-2718004, 2718317-2718334, 2718948, 2718953-2718964
505JAK290.996469549867611233995072582-5072593
506GLDC90.99967352269017130636554669
507DNAI190.995714285714299210034500720-34500728
508NPR290.997455470737918314435792406-35792412, 35792423
509TMC190.999561979851071228375309617
510VPS13A90.999265091863527952579910600-79910602, 79933171-79933174
511PTCH190.999769797421731434498231143
512FOXE190.95454545454545511122100616280-100616310, 100616700, 100616703-100616715, 100616732-100616737
513TGFBR190.98809523809524181512101867538-101867546, 101867557-101867564, 101867569
514DFNB3190.999632892804712724117266935
515TRIM3290.9994903160040811962119460030
516NR5A190.999278499278511386127245167
517LMX1B90.98838248436104131119129456055-129456056, 129456059-129456064, 129456069-129456073
518ENG90.9989883662114321977130578249-130578250
519DOLK90.99381570810142101617131708991-131708999, 131709028
520TOR1A90.9989989989991999132586339
521SETX90.9988797610156898034135139881-135139883, 135139887, 135139890-135139894
522TSC190.9988555078683843495135771985, 135771988-135771990
523CEL90.857331571994723242271135946012-135946018, 135946683-135946999
524ADAMTS1390.98459383753501664284136293819-136293828, 136293834-136293889
525DBH90.9956850053937481854136521645-136521652
526COL5A190.99184339314845455517137534078-137534121, 137642722
527LHX390.97518610421836301209139090798-139090801, 139090882, 139090891-139090895, 139094793, 139094823-139094833, 139094841-139094848
528INPP5E90.99121447028424171935139326276-139326280, 139333330-139333339, 139333345-139333346
529NOTCH190.999087115284377668139391532, 139440197, 139440201-139440205
530AGPAT290.9629629629629631837139581743-139581745, 139581752-139581777, 139581783, 139581788
531SLC34A390.97722222222222411800140128340-140128347, 140128588-140128619, 140130770
532SHOXX0.9795221843003418879605263-605280
533SMSX0.994550408719356110121958971-21958976
534ARXX0.9881586737714620168925031467, 25031668-25031681, 25031788, 25031804-25031807
535NR0B1X0.999292285916491141330326627
536RPGRX0.95518936108702155345938145335, 38145389, 38145416, 38145425, 38145429-38145433, 38145444-38145445, 38145453-38145458, 38145463, 38145477-38145483, 38145486, 38145504-38145574, 38145594-38145627, 38145632, 38145640, 38145645-38145646, 38145649-38145662, 38145673-38145678
537NYXX0.9709543568464742144641333026-41333029, 41333032-41333050, 41333056-41333065, 41333072, 41333075, 41333086-41333092
538SYN1X0.99858356940513211847434102-47434104
539ARX0.9703221136445982276366765149-66765221, 66766375-66766383
540MED12X0.9934190388735843653470360612-70360618, 70360623-70360634, 70360660-70360664, 70360689, 70361098-70361106, 70361109-70361110, 70361130-70361136
541TAF1X0.98169658570926104568270586165-70586267, 70586335
542SLC16A2X0.997285559174815184273641401-73641405
543BRWD3X0.998890737659466540980064952-80064957
544PCDH19X0.998790078644894330699663565-99663568
545ZIC3X0.9978632478632531404136648985-136648987
546SOX3X0.9977628635346831341139586147-139586148, 139586157
547SLC6A8X0.98270440251572331908152954100-152954104, 152954158-152954185
548ABCD1X0.998212689901742238153008675-153008678
549MECP2X0.97728790915164341497153363061-153363064, 153363093-153363122
550OPN1LWX0.98904109589041121095153421844-153421849, 153421852-153421854, 153421859, 153421877, 153421912
551OPN1MWX0.9981735159817421095153455590, 153459003
552OPN1MWX0.9963470319634741095153492704, 153492708, 153492716, 153492789
VariantPhase/
Zygosity
Allele freqImpactEvaluationSummary / Info
4SCNN1G-E197Khet unknown0.008Dominant
pathogenic
Low clinical importance,
uncertain
May cause slight increased risk of rare, CFTR-like disease.
4FANCG-R513Qhet unknown0.011Dominant
pathogenic
Low clinical importance,
uncertain
Rare polymorphism. Hypothesized to increase susceptibility to childhood acute myeloid leukemia, but the numbers in the study failed to have statistical significance.
2ALAD-K59Nhet unknown0.060Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2TP53-P72Rhomozygous0.550Unknown
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.
2MTRR-I49Mhomozygous0.313Recessive
pathogenic
Low clinical importance,
likely
This common variant (HapMap allele frequency of 31.3%) in a protein involved in folate (B9) and cobalamin (B12) metabolism and is often reported as "MTRR I22M" (an alternative transcript position). Mothers homozygous for this variant are associated with having around a increased chance of a child with Down syndrome (risk of 0.4%, average risk in population is 0.25%). Notably, age plays a far larger role in the rate of Down syndrome (risk is 4.5% for a mother 45-years-of-age), and it is unknown how this variant may combine with the effect of age. There are conflicting reports associating this variant with incidence of neural tube defects, possibly when combined with MTHFR A222V.
2GLI3-P998Lhomozygous0.444Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2GLI3-G727Rhet unknownUnknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.054 (benign), Testable gene in GeneTests with associated GeneReview
2GLI3-T183Ahet unknown0.663Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2AGRP-A67Thet unknown0.032Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.857 (probably damaging)
2NEFL-S472ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
2C3-P314Lhet unknown0.079Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.159 (benign), Testable gene in GeneTests with associated GeneReview
2C3-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%.
2PCSK9-V474Ihomozygous0.859Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2PCSK9-G670Ehomozygous0.848Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2BRCA1-S1040Nhet unknown0.008Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.024 (benign), Testable gene in GeneTests with associated GeneReview
2BRCA1-R841Whet unknownUnknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.017 (benign), Testable gene in GeneTests with associated GeneReview
2DLL3-F172ChomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests with associated GeneReview
2DLL3-L218Phomozygous0.650Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2OPTN-M98Khet unknown0.055Unknown
pathogenic
Moderate clinical importance,
uncertain
This variant was initially reported to be a risk factor for glaucoma, but subsequent reports have failed to find a statistically significant association. It may have a modifier effect, with carriers of the variant having lower intraocular pressure on average -- pressures that might be considered normal in other individuals would be abnormally high for carriers of this variant.
2OPTN-K322Ehomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2LOXL1-R141LhomozygousUnknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
2APOB-A4481Thet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-S4338Nhet unknown0.725Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-P2739Lhet unknown0.346Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-I2313Vhet unknown0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-Y1422Chomozygous0.994Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-A618Vhet unknown0.494Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-T98Ihet unknown0.149Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1.5CILP-G1166Shet unknown0.766Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5CILP-Q979Rhomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5CILP-K575Ehomozygous0.974Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5CILP-I395Thomozygous0.491Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5AKAP10-I646Vhomozygous0.434Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5AKAP10-R249Hhomozygous0.427Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5PRNP-M129Vhet unknown0.258Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.628 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1.5CHRNA5-D398Nhomozygous0.158Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
1.5ITGAM-R77Hhet unknown0.095Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.048 (benign)
1.5ITGAM-A859Vhet unknown0.136Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5ITGAM-P1147Shet unknown0.141Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.25CBS-I278Thet unknownRecessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.047 (benign), Testable gene in GeneTests with associated GeneReview
1.25CBS-E62Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.25CBS-S61Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.125LDLRAP1-S202Phet unknown0.473Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.803 (possibly damaging), Testable gene in GeneTests
1.125LDLRAP1-R238Whet unknown0.016Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests
1CLECL1-S52Shifthomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1VSIG10L-Q860ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PLEKHA2-P389Shifthomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CASP8-K14Rhomozygous0.640Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1CASP8-D344Hhomozygous0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1SP110-M523Thet unknown0.319Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SP110-L425Shet unknown0.875Unknown
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.
1SP110-G299Rhet unknown0.822Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SP110-W112Rhet unknown0.945Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CTDP1-S61AhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ZNF480-C3ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF480-P177Shet unknown0.161Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.486 (possibly damaging)
1INSR-A2GhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
1ZNF598-M637Thet unknown0.601Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF598-A608Thet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF598-S453Yhet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF598-E25GhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF598-G6ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1DOCK8-A22Vhet unknown0.291Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.009 (benign), Testable gene in GeneTests
1DOCK8-D63Nhomozygous0.079Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests
1DOCK8-N413Shet unknown0.193Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.19 (benign), Testable gene in GeneTests
1GPR35-T253Mhomozygous0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.471 (possibly damaging)
1GPR35-S294Rhomozygous0.465Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ERCC2-K751Qhomozygous0.218Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ERCC2-D312Nhomozygous0.145Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.032 (benign), Testable gene in GeneTests with associated GeneReview
1HSH2D-S223Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1HADHB-T2TThomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1NEB-I6534Vhomozygous0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NEB-A6277Phomozygous0.691Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NEB-D5516Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NEB-R4389Thomozygous0.724Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NEB-W3348ChomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NEB-I3128Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NEB-K2613Nhomozygous0.138Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NEB-V1491Mhomozygous0.453Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NEB-Y1301Hhomozygous0.668Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NEB-K1027Nhomozygous0.476Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NEB-E317*het unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Nonsense mutation, Testable gene in GeneTests with associated GeneReview
1KRT4-G160GAGGFGAGFGTGGFGhomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1TAS2R38-I296Vhet unknown0.534Unknown
benign
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.984 (probably damaging)
1TAS2R38-A262Vhet unknown0.397Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
1TAS2R38-A49Phet unknown0.495Unknown
benign
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1NPC1-W1122Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1NPC1-I858Vhet unknown0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.061 (benign), Testable gene in GeneTests with associated GeneReview
1NPC1-M642Ihet unknown0.863Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NPC1-P237Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NPC1-H215Rhet unknown0.222Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ZFPM1-E444ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZFPM1-L446ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1AX746903-T82ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CASP8AP2-T1567ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CASP8AP2-S1568ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PIK3R6-L609ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CUL7-Q813RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-Q256Rhet unknown0.215Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-G157Shet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-V148Ihet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-D89Vhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-M46Lhet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-F41Yhet unknown0.789Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-L28Shet unknown0.375Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-M24Ihet unknown0.294Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-A6Shet unknown0.154Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NR_027242-C222Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
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
1NPRL3-L489Shifthomozygous0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NHLRC1-P111Lhomozygous0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview
1PCSK1-S690Thet unknown0.218Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.061 (benign), Testable gene in GeneTests
1PCSK1-Q665Ehet unknown0.238Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1PCSK1-N221Dhet unknown0.020Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
1PALB2-Q559Rhet unknown0.160Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PALB2-L337Shet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.761 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1ACOT4-A187Dhomozygous0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
1ACOT4-AY189QShomozygous0.048Unknown
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
1NR_015394-G45WhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1NR_015394-F74ShomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1NR_015394-T113ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CCDC66-D5ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CCDC66-Q383Rhomozygous0.934Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CCDC66-S606SShomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ATG9B-A765ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ATG9B-N493Shet unknown0.079Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF167-N494ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF761-L47ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF761-I122Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF761-V168Ihet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF761-G528Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF761-E603Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KCP-F673Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KCP-R672Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KCP-H313ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KCP-A16ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1WFS1-V333Ihomozygous0.889Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1WFS1-R611Hhomozygous0.442Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview
1C14orf104-D768Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1C14orf104-E62DhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GFAP-D295Nhet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.942 (probably damaging), Testable gene in GeneTests with associated GeneReview
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
1C14orf23-K115ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TTN-F33256Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1TTN-P28075Shet unknownUnknown
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-K11752Ehomozygous0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-W8492*het unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Nonsense mutation, Testable gene in GeneTests with associated GeneReview
1TTN-D6352Hhomozygous0.008Unknown
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
1F5-M2148Thet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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
1KCNJ11-V337Ihet unknown0.761Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1KCNJ11-K23Ehet unknown0.711Unknown
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1B3GNT6-A191Thet unknown0.130Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1B3GNT6-L316ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1B3GNT6-L335ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NR_027052-Q90*homozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1HRNR-H2772Rhet unknown0.516Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-L2688Shet unknown0.939Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-S799Thet unknown0.569Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-R664Qhet unknown0.568Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-Y517Chet unknown0.185Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-G492Rhet unknown0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-E473Ghomozygous0.951Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-Q376Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-H273Qhet unknown0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-R85Hhet unknown0.553Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.078 (benign)
1HRNR-M1ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1FLG-R3738Hhet unknown0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.278 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1FLG-R3530Shet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
1FLG-V3179Ghet unknown0.339Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
1FLG-G2545Rhet unknown0.292Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
1FLG-H2507Qhet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
1FLG-L2481Shet unknown0.222Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
1FLG-K2444Ehet unknown0.188Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
1FLG-E2398Qhet unknown0.144Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.92 (probably damaging), Testable gene in GeneTests with associated GeneReview
1FLG-S2366Thet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.967 (probably damaging), Testable gene in GeneTests with associated GeneReview
1FLG-VG2225AVhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FLG-L2224Qhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FLG-H1961Qhet unknown0.418Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FLG-W1947Ghet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FLG-R1891Qhet unknown0.061Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FLG-A1805Vhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FLG-R1699Chet unknown0.428Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FLG-R1684Hhet unknown0.190Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FLG-S1482Yhet unknown0.243Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FLG-R1376Ghet unknown0.170Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FLG-R1360Hhet unknown0.164Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FLG-A1167Ghet unknown0.425Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FLG-E755Khet unknown0.155Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FLG-P478Shet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
1FLG-T454Ahet unknown0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.075 (benign), Testable gene in GeneTests with associated GeneReview
1FLG-G444Rhet unknown0.319Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests with associated GeneReview
1FLG-G332Vhet unknown0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
1TRIM64-R162ShomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1TRIM64-V238MhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-E242VhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-Q358RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-Q405RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1TYR-R402Qhet unknown0.063Complex/Other
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview
1BCOR-S562LhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PTCHD3-*768Qhomozygous0.570Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PTCHD3-I584Mhomozygous0.963Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PTCHD3-M521Thomozygous0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PTCHD3-D473Ghomozygous0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.849 (possibly damaging)
1PTCHD3-C407Ghomozygous0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
1PTCHD3-S309Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CPT1A-A275Thet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HABP2-T50MhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1IL23R-Q3Hhomozygous0.501Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
1IL23R-L310Phomozygous0.884Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1IL23R-R381Qhet unknown0.029Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
1ALG6-S306FhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ALX4-P102Shomozygous0.217Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ALX4-R35Thomozygous0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests with associated GeneReview
1SCARF2-A832GhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1SCARF2-A814Ghet unknownUnknown
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
1COL18A1-A288Thet unknown0.177Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.017 (benign), Testable gene in GeneTests
1COL18A1-T379Mhet unknown0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.969 (probably damaging), Testable gene in GeneTests
1COL18A1-PGP1362DelhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1FAM83F-R436GhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.939 (probably damaging)
1ARSA-T391Shomozygous0.423Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ARSA-N350Shet unknown0.241Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.012 (benign), Testable gene in GeneTests with associated GeneReview
1ARSA-W193Chet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview
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
1KRTAP7-1-Y17ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1DPYD-I543Vhomozygous0.199Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1DPYD-R29Chomozygous0.731Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1PADI6-V343Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KISS1-*139ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1MTMR2-E502Qhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1MTMR2-K3Thet unknown0.216Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TCEAL6-Q175Shifthomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1OPN1LW-A298PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1OPN1LW-Y309FhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1H2BFM-Q73*homozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1DEFB126-Q55Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1DEFB126-P106Shifthomozygous0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1COL4A5-K664NhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FAM58A-Q15ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
1FAM58A-G4ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
1TRPC6-P15Shomozygous0.069Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ITIH5L-W1041Shomozygous0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.986 (probably damaging)
1RNASEL-D541Ehet unknown0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1RNASEL-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.
1DGKK-L1014ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.75ANKK1-A239Thet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.852 (probably damaging)
0.75ANKK1-G442Rhet unknown0.541Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75ANKK1-E713Khet unknown0.347Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75BRCA2-N289Hhet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75BRCA2-N372Hhet unknown0.230Recessive
pathogenic
Low clinical importance,
uncertain
This is a common variant of BRCA2 (HapMap allele frequency of 23%). The variant is weakly associated with an increased chance of breast cancer, and zygosity of the variant is associated with sex of children: male children are more likely to be homozygous for this variant, female children are more likely to be heterozygous.
0.75BRCA2-N991Dhet unknown0.069Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75BRCA2-V2466Ahomozygous0.954Dominant
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75BANK1-R61Hhet unknown0.221Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75BANK1-S303Rhet unknown0.103Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.45 (possibly damaging)
0.75BANK1-A383Thet unknown0.233Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.778 (possibly damaging)
0.75BANK1-C650Rhomozygous0.990Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75BLMH-I443Vhet unknown0.241Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75AURKA-I57Vhomozygous0.814Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75AURKA-F31Ihet unknown0.366Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5INMT-D28Nhet unknown0.233Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5INMT-F254Chomozygous0.757Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5INMT-R258Hhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5KNDC1-A128Shet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.076 (benign)
0.5KNDC1-S155Ghet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5KNDC1-R156Qhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5KNDC1-C603Yhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.5KNDC1-L717Phet unknown0.549Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SCD-M224Lhomozygous0.377Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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
0.5LRP11-P92Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
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
0.5COL17A1-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: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-T210Mhomozygous0.557Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-L8741Mhet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (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
0.5SYNE1-Q2981Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-A2795Vhet unknown0.260Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-V1035Ahet unknown0.632Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.673 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5TBC1D9B-K1119Thomozygous0.541Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TBC1D9B-E819Khet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.943 (probably damaging)
0.5SLC22A2-S270Ahomozygous0.876Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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
0.5ABCC2-Y39Fhomozygous0.990Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCC2-N1062Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NR_024390-W43*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5NR_024390-A104Phet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5STAMBPL1-E204Khet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.97 (probably damaging)
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: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-S654Chet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-D928Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
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-N2641Shomozygous0.367Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-A3474Thet unknown0.501Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-V3715Lhet unknown0.452Unknown
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
0.5SOD2-V16Ahomozygous0.362Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PSORS1C2-L83Phet unknown0.936Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PSORS1C2-G25Dhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TAAR2-W168*het unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation
0.5ZNF318-V1797Ahomozygous0.952Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5ZNF318-S1364Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging)
0.5ZNF318-T1292Ihet unknown0.155Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ENPP5-I171Vhet unknown0.384Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.139 (benign)
0.5ENPP5-R39Phet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5ENPP5-L6Ihet unknown0.384Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5MUT-I671Vhomozygous0.522Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MUT-A499Thet unknown0.110Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NRAP-R1566Chet unknown0.348Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.853 (probably damaging)
0.5NRAP-L1531Phet unknown0.079Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.928 (probably damaging)
0.5NRAP-I1183Vhomozygous0.461Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NRAP-R884Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NRAP-S490Lhomozygous0.294Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.092 (benign)
0.5NRAP-Q360Rhomozygous0.544Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NRAP-A344Thomozygous0.546Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NRAP-Y249Chomozygous0.215Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5NRAP-V208Ahomozygous0.914Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MKI67-K3217Ehet unknown0.426Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.017 (benign)
0.5MKI67-T3150Shet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MKI67-T2868Shet unknown0.141Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5MKI67-R2786Qhet unknown0.154Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.969 (probably damaging)
0.5MKI67-P2608Lhet unknown0.427Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.5MKI67-N2363Shet unknown0.426Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MKI67-G1042Shet unknown0.148Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.265 (possibly damaging)
0.5MKI67-R832Whet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5MKI67-N104Shet unknown0.618Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.417 (possibly damaging)
0.5PRPH2-D338Ghet unknown0.761Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRPH2-R310Khomozygous0.943Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRPH2-Q304Ehet unknown0.877Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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-E1916Khet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.98 (probably damaging)
0.5PEX6-P939Qhet unknown0.339Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PEX6-A809Vhet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-R3209Ghet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-G2846Rhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-R2704Hhet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-P2412Lhet unknown0.087Unknown
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: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-Q3899Rhet unknown0.546Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-T2869Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-L1870Vhomozygous0.905Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-A1262Vhomozygous0.239Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-R760Chomozygous0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IL17F-V155Ihet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.564 (possibly damaging)
0.5AIM1-C491Rhet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.091 (benign)
0.5AIM1-E1196Ahomozygous0.935Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0.5SLC22A16-M409Thet unknown0.092Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5SLC22A16-E232Ghet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5ROS1-R167Qhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.983 (probably damaging)
0.5TULP1-K261Nhomozygous0.805Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TULP1-I259Thet unknown0.344Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TULP1-K99Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TULP1-T67Rhomozygous0.877Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CCHCR1-S865Chet unknown0.202Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CCHCR1-R716Qhet unknown0.063Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CCHCR1-R506Whet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CCHCR1-L268Qhet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CCHCR1-E41*het unknown0.071Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5EFHC1-I619Lhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests
0.5LMBRD1-D469Ehomozygous0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5LCA5-G656Dhet unknown0.377Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LCA5-L24Shomozygous0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5MICA-W37Ghet unknown0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-Y59Chet unknown0.293Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-V152Mhet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-E196Khet unknown0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-S229Ghet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-R233Whet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5MICA-I236Thet unknown0.570Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-T238Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MICA-R274Qhet unknown0.538Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-C329Rhet unknown0.206Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-P330Lhet unknown0.262Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CCDC146-R37Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.902 (probably damaging)
0.5SFTPA2-Q223Khet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SFTPA2-A91Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SFTPA2-V50Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5RECQL4-V799Mhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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-S92Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KIF24-S837Fhet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.006 (benign)
0.5KIF24-W218Lhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5KIF24-M140Vhet unknown0.347Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.091 (benign)
0.5ROR2-V819Ihomozygous0.798Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ROR2-T245Ahomozygous0.619Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CUBN-S2717Whomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-C2162Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P1559Shet unknown0.565Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P389Thet unknown0.513Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-F253Shomozygous0.801Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IPPK-L376Fhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.865 (probably damaging)
0.5TG-S734Ahomozygous0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-M1028Vhomozygous0.696Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5TG-D1312Ghomozygous0.344Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-D1838Nhomozygous0.304Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.061 (benign), Testable gene in GeneTests
0.5TG-W2501Rhomozygous0.566Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.031 (benign), Testable gene in GeneTests
0.5TMEM67-I604Vhomozygous0.710Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KIAA1462-R957Ghomozygous0.344Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.109 (benign)
0.5KIAA1462-E24Khet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5RP1-N985Yhomozygous0.206Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.958 (probably damaging), Testable gene in GeneTests
0.5RP1-C2033Yhomozygous0.186Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests
0.5GGH-A31Thet unknown0.198Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GGH-C6Rhet unknown0.088Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PEX2-C184Rhomozygous0.990Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BHLHE22-S28Ahet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BHLHE22-L62Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.889 (probably damaging)
0.5BAAT-R20Qhomozygous0.569Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.136 (benign), Testable gene in GeneTests
0.5IKBKAP-P1158Lhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IKBKAP-C1072Shet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IKBKAP-I830Mhet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IKBKAP-I816Lhet unknown0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IKBKAP-G765Ehet unknown0.315Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PNPLA7-W1080Rhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PNPLA7-V828Ahomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PNPLA7-S8Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ADAMTS13-Q448Ehet unknown0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ADAMTS13-A900Vhet unknown0.082Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC34A3-R67Hhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC34A3-E513Vhet unknown0.915Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NDOR1-R30Ghet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.894 (probably damaging)
0.5AK094914-K152NhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AK094914-C16Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AK094914-A13Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AK8-D130Ghet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5AK8-I5Thet unknown0.158Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TTF1-R401Qhet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.074 (benign), Testable gene in GeneTests
0.5SVEP1-G3543Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SVEP1-F3161Ihet unknown0.114Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.675 (possibly damaging)
0.5SVEP1-A2750Vhet unknown0.441Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SVEP1-L1648Vhet unknown0.182Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SVEP1-M1444Lhet unknown0.352Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SVEP1-I1157Vhet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.907 (probably damaging)
0.5SVEP1-Q581Hhet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.5SVEP1-R229Ghet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5DFNB31-V783Ahet unknown0.405Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, 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-M613Thomozygous0.487Unknown
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
0.5TUBAL3-R250Whet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
0.5SETX-I1386Vhomozygous0.494Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-G1252Rhomozygous0.494Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-D1192Ehomozygous0.598Unknown
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: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-E289Qhomozygous0.801Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PPYR1-V276Mhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.889 (probably damaging)
0.5CHRNA2-T125Ahomozygous0.644Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP6V0A4-V2Ahomozygous0.680Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NUDT13-M273Vhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5CLCN1-G118Whomozygous0.995Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CLCN1-P727Lhet unknown0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AF035281-S47Shifthet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AF035281-P90Shet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AF035281-Q119Rhomozygous0.697Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF212-H293Yhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.777 (possibly damaging)
0.5CYP3A7-R409Thomozygous0.669Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5POR-A503Vhet unknown0.227Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNS3-S504Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging)
0.5AK125684-S25*het unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5ZMYND17-L417Phet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.27 (possibly damaging)
0.5EGFR-R521Khet unknown0.259Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DDC-M17Vhomozygous0.979Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABP1-T16Mhet unknown0.315Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABP1-S332Fhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5ABP1-T592Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABP1-H645Dhet unknown0.520Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.012 (benign)
0.5CDH23-R3Chet unknown0.150Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-G488Ahet unknown0.180Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-A1220Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-N1349Dhomozygous0.772Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-A1572Thomozygous0.720Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-T1996Shet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FGL1-Y140Fhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5FGL1-I72Vhet unknown0.400Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5FGL1-T15Ihet unknown0.696Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ASAH1-V246Ahomozygous0.797Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ASAH1-I93Vhomozygous0.384Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ASAH1-V72Mhomozygous0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NAT2-R197Qhet unknown0.272Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NAT2-R268Khomozygous0.675Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NAT2-G286Ehet unknown0.065Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ARHGAP22-T410Khet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5HR-T1022Ahet unknown0.130Recessive
benign
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HR-S911Rhet unknown0.259Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.127 (benign)
0.5HR-L526Phet unknown0.219Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HR-P319Lhet unknown0.063Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.958 (probably damaging)
0.5CHAT-A120Thet unknown0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.5CHAT-V461Mhomozygous0.927Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DLC1-T260Ihet unknown0.819Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DLC1-QN254HDhet unknown0.812Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DLC1-R27Chet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ABCB8-R304Chet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ABCB8-G710Vhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SLC29A3-R18Ghet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-S158Fhet unknown0.453Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-V239Ihomozygous0.771Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-I326Vhomozygous0.824Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AX747124-C9Yhomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AX747124-C51Shifthet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AX747124-R83Chet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TTLL10-C97Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TTLL10-V249Ahet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TTLL10-G578Dhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.257 (possibly damaging)
0.5MCPH1-R171Shomozygous0.865Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D314Hhomozygous0.648Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D392Ghomozygous0.979Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, 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
0.5BBS12-R386Qhet unknown0.515Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.5BBS12-D467Nhet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PROP1-A142Thet unknown0.206Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PROP1-N20Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NT5C1B-R187Qhet unknown0.074Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5NT5C1B-S176*het unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5LPIN1-P610Shet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.024 (benign), Testable gene in GeneTests
0.5OTOF-R773Chet unknown0.024Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.928 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5OTOF-D304Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OTOF-F303Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GCKR-L446Phomozygous0.673Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP1B1-V432Lhet unknown0.547Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALK-D1529Ehet unknown0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALK-I1461Vhomozygous0.982Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALK-G872Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TPO-A373Shet unknown0.188Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5TPO-S398Thomozygous0.684Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.988 (probably damaging), Testable gene in GeneTests
0.5TPO-T725Phet unknown0.524Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TPO-V847Ahet unknown0.674Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5MTR-D919Ghet unknown0.262Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.777 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5USH2A-M3868Vhet unknown0.131Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-T3835Ihet unknown0.165Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.157 (benign), Testable gene in GeneTests with associated GeneReview
0.5USH2A-E3411Ahomozygous0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-I2169Thet unknown0.575Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-I2106Thomozygous0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-D644Vhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.137 (benign), Testable gene in GeneTests with associated GeneReview
0.5USH2A-A125Thomozygous0.777Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CHIT1-V357V*het unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation, Testable gene in GeneTests
0.5GPATCH2-M474Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
0.5SPATA17-M165Ihet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.853 (probably damaging)
0.5EDARADD-M9Ihomozygous0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EPHX1-Y113Hhet unknown0.290Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5NR_027251-H75Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ABCG8-Y54Chet unknown0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.01 (benign), Testable gene in GeneTests
0.5ABCG8-V632Ahomozygous0.908Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SCN9A-W1150Rhomozygous0.896Dominant
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN9A-P610Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5SCN1A-A1056Thomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KIAA1715-T159Shet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.426 (possibly damaging)
0.5COL3A1-H1353Qhomozygous0.990Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALS2-V368Mhomozygous0.869Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MSTN-K153Rhet unknown0.069Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.026 (benign), Testable gene in GeneTests with associated GeneReview
0.5LCT-N1639Shomozygous0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LCT-I362Vhomozygous0.944Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CFC1-W78Rhomozygous0.966Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZNF638-C1198Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.879 (probably damaging)
0.5NR_003131-Q17Shifthet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5DYSF-I852Vhet unknown0.093Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), 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: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R4029Khomozygous0.527Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ACTR1B-A143Vhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
0.5EIF2AK3-S136Chomozygous0.285Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PHLDA3-R28Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.852 (probably damaging)
0.5TNNT2-K260Rhet unknown0.088Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5POMGNT1-M623Vhomozygous0.878Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5WDR65-T126Mhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5WDR65-N241Dhomozygous0.541Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.5WDR65-C345Shet unknown0.138Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.988 (probably damaging)
0.5FAAH-P129Thomozygous0.237Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5CYP4A22-R126Whet unknown0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP4A22-G130Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5CYP4A22-N152Yhet unknown0.790Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP4A22-C231Rhet unknown0.598Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP4A22-L428Phet unknown0.297Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ACOT11-R20Hhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.938 (probably damaging)
0.5CPT2-V368Ihet unknown0.477Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CPT2-M647Vhet unknown0.093Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5DEM1-L151Phet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.948 (probably damaging)
0.5DEM1-G172Vhet unknown0.573Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SPOCD1-P1089Shet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
0.5SPOCD1-R436Whet unknown0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.942 (probably damaging)
0.5SPOCD1-P189Lhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging)
0.5SPOCD1-T109Ahet unknown0.682Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5PLEKHG5-G866Shet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5PLEKHG5-M496Vhet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.795 (possibly damaging), Testable gene in GeneTests
0.5PLEKHG5-T294Shet unknown0.267Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ARHGEF16-H370Yhet unknown0.663Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.744 (possibly damaging)
0.5ARHGEF16-E681Khet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.62 (possibly damaging)
0.5CLCNKB-A214Ghomozygous0.815Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-A287Vhomozygous0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-I419Vhet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-M562Thomozygous0.856Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-K578Ehomozygous0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ARHGEF19-P460Lhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5RNF186-P208Thet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.852 (probably damaging)
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)
0.5MSH4-A97Thet unknown0.205Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MSH4-Y589Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.963 (probably damaging)
0.5DBT-S384Ghomozygous0.869Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DDR2-M441Ihet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NDUFS2-P352Ahet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5LAMC2-S733Thet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.935 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5NCF2-K181Rhomozygous0.471Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CACNA1S-L1800Shet unknown0.251Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CACNA1S-L458Hhet unknownUnknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-Q2620Hhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-Y2494Hhomozygous0.992Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PVRL4-P104Thet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (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
0.5FNDC7-I146Vhet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5FNDC7-R224Lhomozygous0.564Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FNDC7-S309Nhet unknown0.185Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FNDC7-V353Ahet unknown0.600Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL11A1-S1547Phomozygous0.752Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-P1335Lhomozygous0.479Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CHIA-N45Dhet unknown0.150Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CHIA-D47Nhet unknown0.150Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.5CHIA-R61Mhet unknown0.155Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CHIA-I339Vhomozygous0.664Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CHIA-F354Shomozygous0.408Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5CHIA-F377Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.956 (probably damaging)
0.5CHIA-V432Ghomozygous0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OVGP1-E676Qhet unknown0.652Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OVGP1-M479Vhet unknown0.148Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.963 (probably damaging)
0.5OVGP1-M477Thet unknown0.664Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5OVGP1-D332Ehet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5NOTCH2-D1327Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NOTCH2-P210Lhet unknown0.333Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NOTCH2-A21Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NGF-A35Vhomozygous0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.123 (benign), Testable gene in GeneTests
0.5PTPN22-W620Rhomozygous0.970Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CPS1-T344Ahet unknown0.583Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5CPS1-T1406Nhomozygous0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCA12-S777Thomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AGA-T149Shomozygous0.925Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NEIL3-P117Rhet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5NEIL3-H286Rhet unknown0.168Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.061 (benign)
0.5NEIL3-P443Lhet unknown0.591Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NEIL3-Q471Hhet unknown0.649Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NEIL3-G520Rhet unknown0.941Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TERT-A1062Thet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-I4450Vhomozygous0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-A4134Vhomozygous0.450Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-L2862Fhet unknown0.212Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), 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-H12Qhet unknown0.896Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AMACR-E277Khomozygous0.724Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-L201Shomozygous0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-G175Dhomozygous0.257Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-V9Mhomozygous0.368Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CDH12-I284Vhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CDH12-V68Mhet unknown0.403Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NR3C2-V180Ihomozygous0.883Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RNH1-P170Lhet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.881 (probably damaging)
0.5RNH1-SLDIQ7Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5FAM175A-A348Thet unknown0.375Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.16 (benign)
0.5FAM175A-T141Ihet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5UGT2B15-K523ThomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5UGT2B15-Y85Dhomozygous0.500Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ADH1B-H48Rhomozygous0.678Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TET2-P363Lhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.917 (probably damaging)
0.5TET2-L1721Whomozygous0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.032 (benign)
0.5CFI-T300Ahomozygous0.957Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HADH-L86Phomozygous0.859Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GHR-I544Lhomozygous0.473Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.5RAD17-L557Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5PDE6A-H655Yhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AX746964-G175Shifthet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AX746964-K166Ihet unknown0.628Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC26A2-I574Thomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GM2A-I59Vhomozygous0.642Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GM2A-M69Vhomozygous0.826Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GM2A-V153Ahet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.5F12-A207Phomozygous0.951Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NIPAL4-S453Lhet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5IL13-Q144Rhomozygous0.766Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FBN2-V965Ihomozygous0.714Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FBN2-A68Vhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AP3B1-V585Ehomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5HEXB-L62Shomozygous0.978Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HEXB-K121Rhet unknown0.227Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HEXB-I207Vhet unknown0.139Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.119 (benign), Testable gene in GeneTests
0.5ARSB-V376Mhet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5GPR98-L1093Fhet unknown0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, 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-P1987Lhet unknown0.333Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.366 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-Y2232Chet unknown0.349Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.989 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-N2345Shet unknown0.304Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), 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-E3867Khet unknown0.356Unknown
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
0.5GPR98-V6117Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALDH7A1-K439Qhet unknown0.072Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLCO6A1-R646Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5ERAP2-K392Nhomozygous0.540Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ERAP2-N501Shifthet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PAICS-S148Chet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5KIT-M541Lhet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.017 (benign), Testable gene in GeneTests
0.5CCR5-L55Qhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5FYCO1-R1140Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5FYCO1-E994Khet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.937 (probably damaging)
0.5FYCO1-A679Vhet unknown0.350Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.16 (benign)
0.5FYCO1-R615Whet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5FYCO1-G321Ahet unknown0.408Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FYCO1-R250Qhomozygous0.919Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LAMB2-A1765Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FLNB-D1157Nhomozygous0.538Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5FLNB-V1471Mhomozygous0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.02 (benign), Testable gene in GeneTests with associated GeneReview
0.5KIAA1407-R374Whet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5GBE1-I334Vhomozygous0.979Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A20-T199Mhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5SCN5A-H558Rhet unknown0.215Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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-P1251Lhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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
0.5TNS1-N1722Shet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TNS1-V1604Ihet unknown0.654Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TNS1-W1197Rhet unknown0.697Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TNS1-R1004Whomozygous0.376Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TNS1-T528Ihet unknown0.471Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TNS1-V25Ihet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5COL4A3-G43Rhet unknown0.239Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-P574Lhomozygous0.358Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TRPM8-R247Thet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.926 (probably damaging)
0.5TRPM8-Y251Chet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5TRPM8-S419Nhet unknown0.379Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SUMF1-G222Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SUMF1-S63Nhet unknown0.088Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
0.5NDUFA10-A2Ghet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5DRD3-G9Shomozygous0.482Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HGD-Q80Hhomozygous0.742Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EVC-Y258Hhomozygous0.721Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5EVC-T372Mhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.5EVC-T449Khomozygous0.871Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EVC-R576Qhet unknown0.274Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.5DOK7-R38Ghet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DOK7-R38Ghet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BST1-R125Hhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5TLR6-S249Phomozygous0.855Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PDGFRA-G79Dhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.47 (possibly damaging), Testable gene in GeneTests
0.5TXK-R336Qhet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TXK-R45Hhet unknown0.148Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5HTT-E2643Delhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IDUA-H33Qhomozygous0.750Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.5IDUA-R105Qhet unknown0.147Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.023 (benign), Testable gene in GeneTests with associated GeneReview
0.5IDUA-A361Thet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAJC13-A1463Shomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAJC13-P1515Shet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CASR-E942Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5CASR-A986Shet unknown0.070Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5CASR-E1011Qhomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCCB-D518Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5CLDN16-R55Shifthomozygous0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.5MUC20-T345Shifthet unknown0.027Unknown
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
0.5OPA1-S158Nhomozygous0.482Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5UNC5B-I242Vhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.97 (probably damaging)
0.5SPG11-I450Vhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KRT14-C63Yhomozygous0.976Unknown
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
0.5RUNDC1-W160Rhomozygous0.914Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RUNDC1-S312Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5RUNDC1-G315Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5COL1A1-T1075Ahomozygous0.961Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ITGB3-L59Phomozygous0.109Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.02 (benign), Testable gene in GeneTests
0.5KRTAP3-2-R27Chomozygous0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5KRT10-S527Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT10-S519Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT10-H487Yhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT10-G126Shet unknown0.109Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT10-I101Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DHX33-R621Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5DHX33-H483Dhet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5USP6-K66Qhet unknown0.128Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5USP6-IR67MWhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5USP6-R69Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5USP6-T72Rhet unknown0.518Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5USP6-H89Nhet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5USP6-S91Thet unknown0.065Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5USP6-W475Rhomozygous0.823Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5USP6-R912Qhet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.975 (probably damaging)
0.5USP6-R1101Whet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5RAI1-G90Ahet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RAI1-P165Thet unknown0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5RAI1-A381Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.47 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5MAP2K3-P40Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.968 (probably damaging)
0.5MAP2K3-R55Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MAP2K3-S68Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.029 (benign)
0.5MAP2K3-R94Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.992 (probably damaging)
0.5MAP2K3-R96Whet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5MAP2K3-Q102*het unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5MAP2K3-L215Whet unknown0.429Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5MAP2K3-T222Mhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5MAP2K3-R293Hhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.338 (possibly damaging)
0.5MAP2K3-V339Mhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.815 (possibly damaging)
0.5SLFN14-Y770Fhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging)
0.5SLFN14-K385Ehomozygous0.648Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLFN14-P356Shomozygous0.650Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CCDC55-K86Thet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.932 (probably damaging)
0.5BRIP1-S919Phomozygous0.652Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN4A-N1376Dhomozygous0.604Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN4A-S524Ghomozygous0.938Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC38A10-I1072Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SLC38A10-A831Ghet unknown0.543Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.101 (benign)
0.5SLC38A10-E676Dhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.92 (probably damaging)
0.5SLC38A10-K559Rhet unknown0.052Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.813 (possibly damaging)
0.5CARD14-R682Whet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5CARD14-R820Whet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.854 (probably damaging)
0.5LAMA3-N2815Khet unknown0.130Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LAMA3-S2834Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP8B1-A1152Thomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CD226-S307Ghomozygous0.423Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LMAN1-V39Ahet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GAA-H199Rhomozygous0.574Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GAA-R223Hhomozygous0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GAA-V780Ihomozygous0.720Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RNF157-G208Rhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.859 (probably damaging)
0.5DNAI2-A558Thomozygous0.674Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5APOH-W335Shet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
0.5APOH-R154Hhomozygous0.074Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.043 (benign)
0.5APOH-I141Thomozygous0.058Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MIF4GD-R128Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MIF4GD-Q126Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TSEN54-E4Dhomozygous0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TSEN54-K347Nhomozygous0.430Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.968 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5TSEN54-A437Vhomozygous0.515Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5ACOX1-I312Mhomozygous0.492Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ITGB4-R74Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ITGB4-L1779Phomozygous0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ENO3-N71Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ENO3-V85Ahet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ALOX15-T560Mhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.388 (possibly damaging)
0.5POLG-E1143Ghet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AGBL1-P223Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5AGBL1-Q1010Rhet unknown1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BLM-V1321Ihet unknown0.052Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKD1-R739Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5GLIS2-A75Shet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZSCAN10-L654Vhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.948 (probably damaging)
0.5HEXA-I436Vhomozygous0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR2E3-T318Shifthomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.5SLC28A2-P22Lhomozygous0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC28A2-S75Rhomozygous0.253Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DUOX2-S1067Lhomozygous0.662Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DUOX2-P138Lhomozygous0.926Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FBN1-C472Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PIF1-E49*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5LCTL-S31Phet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.954 (probably damaging)
0.5SLC24A1-T37Shet unknown0.322Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC24A1-S332Shifthet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5GSPT1-V100AhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5GSPT1-G92Chet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ABCC6-R1268Qhet unknown0.142Unknown
pharmacogenetic
Low clinical importance,
uncertain
This common polymorphism appears to not have a significant phenotypic impact. A few studies report weak but significant associations with plasma lipids (in Inuits) and thalidomide toxicity.
0.5ABCC6-M848Vhomozygous0.954Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-H632Qhomozygous0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-V614Ahomozygous0.354Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DHODH-K7Qhomozygous0.560Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5TSNAXIP1-R428Chet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5KRTAP5-1-S163Chet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5KRTAP5-1-C162Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ATP2C2-M165Lhomozygous0.997Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ATP2C2-G411Shet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ATP2C2-L604Qhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CTNS-T260Ihomozygous0.825Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYBA-V174Ahomozygous0.417Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RANBP10-A570Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CNOT1-R299Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.907 (probably damaging)
0.5PHKB-Y770Chet unknown0.074Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.479 (possibly damaging), Testable gene in GeneTests
0.5EEF2K-Q361Rhomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EEF2K-D609Nhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5SALL1-V1275Ihomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RPGRIP1L-D1264Nhet unknown0.103Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RPGRIP1L-T1143Shet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RPGRIP1L-G1025Shet unknown0.171Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CCDC135-D51Nhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.927 (probably damaging)
0.5CETP-V422Ihomozygous0.494Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GRIN3B-P231Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5GRIN3B-R404Whet unknown0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.976 (probably damaging)
0.5GRIN3B-W414Rhet unknown0.681Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GRIN3B-G466Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5GRIN3B-T577Mhet unknown0.347Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5GRIN3B-A845Thet unknown0.097Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.137 (benign)
0.5GRIN3B-Q1006Ehet unknown0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.051 (benign)
0.5GRIN3B-P1039Rhet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NDUFS7-P23Lhomozygous0.437Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5WFDC3-R63Lhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5WFDC3-H36Dhet unknown0.670Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.207 (possibly damaging)
0.5BCAS4-E56Dhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.738 (possibly damaging)
0.5PCK1-V184Lhomozygous0.856Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5UBASH3A-S18Ghomozygous0.541Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UBASH3A-L28Fhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.949 (probably damaging)
0.5SYCP2-T353Khet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.881 (probably damaging)
0.5SPINT3-F54Shet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5TTPAL-N181Dhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5CRLS1-A20Thet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.012 (benign)
0.5CRLS1-P193Lhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
0.5PANK2-G126Ahomozygous0.917Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5THBD-A473Vhomozygous0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, 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
0.5CPNE1-A402Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CPNE1-P347Rhet unknown0.084Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.384 (possibly damaging)
0.5CPNE1-Q211Rhet unknown0.274Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNTA1-A257Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SNTA1-P74Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PFKL-V717Ahet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.243 (possibly damaging)
0.5ITGB2-Q354Hhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.543 (possibly damaging), Testable gene in GeneTests
0.5DMD-R2937Qhomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KAL1-V534Ihomozygous0.543Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RPGR-V1144Ihomozygous0.184Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC16A2-S107Phomozygous0.444Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5F9-T194Ahomozygous0.144Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5ATP7A-E1350Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ARSE-G424Shomozygous0.543Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5TRMU-A10Shet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.78 (possibly damaging), Testable gene in GeneTests
0.5COL6A2-S399Nhomozygous0.727Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A2-R680Hhet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5COL6A2-A68Vhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRODH-R521Qhomozygous0.887Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
0.5HIC2-P362Lhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
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-S540Delhet unknown0.114Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, 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
0.5HPS4-Q620Hhomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5HPS4-H601Yhomozygous0.807Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-V547Mhomozygous0.780Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-L438Vhomozygous0.344Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-E224Ghomozygous0.779Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF544-Q700Rhomozygous0.538Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5ZNF544-R708Whet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ZNF274-V42Ihet unknown0.142Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.562 (possibly damaging)
0.5ZNF274-Q45Rhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5PGLYRP2-R476Whet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5PGLYRP2-R394Qhet unknown0.233Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.018 (benign)
0.5PGLYRP2-M270Khet unknown0.399Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.2 (possibly damaging)
0.5PGLYRP2-R99Qhet unknown0.364Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5PGLYRP2-T46Ahet unknown0.366Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KLF1-S102Phet unknown1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KLF1-M39Lhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5LRFN1-D709Shifthet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PRX-G1132Rhomozygous0.978Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-P1083Rhet unknown0.082Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.793 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5PRX-I921Mhomozygous0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-V882Ahomozygous0.493Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview
0.5ZNF224-M118Vhomozygous0.793Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF224-H162Lhomozygous0.780Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.262 (possibly damaging)
0.5ZNF224-K640Ehomozygous0.593Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP2B6-R487Chet unknown0.074Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5RNASEH2A-L202Shet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RNASEH2A-D205Ehet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.019 (benign), Testable gene in GeneTests with associated GeneReview
0.5TYK2-P1104Ahet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.5TYK2-P441Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5TYK2-V362Fhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
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)
0.5MPND-P423Lhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5PRR22-P182Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5PRR22-P118Lhet unknown0.337Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.135 (benign)
0.5STXBP2-I526Vhomozygous0.725Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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
0.5FBN3-E2610Dhomozygous0.632Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FBN3-R2471Hhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5FBN3-H1966Dhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5FBN3-P1958Hhet unknown0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FBN3-N1869Khet unknown0.097Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5FBN3-R1806Qhet unknown0.164Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FBN3-V1326Ihet unknown0.290Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FBN3-R1083Whet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5FBN3-V938Ihet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5FBN3-D662Nhomozygous0.984Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FBN3-V542Ihet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZNF180-T300Ahet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5ZNF180-H289Rhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.879 (probably damaging)
0.5ZNF180-W89Chet unknown0.512Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.973 (probably damaging)
0.5SIX5-P635Shet unknown0.533Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5SIX5-L556Vhet unknown0.833Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FPR1-E346Ahomozygous0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-N192Khomozygous0.516Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-V101Lhet unknown0.336Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-I11Thomozygous0.831Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KLK13-H109Yhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.953 (probably damaging)
0.5ZNF880-N106Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZNF880-N140NNhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZNF880-R198Shet unknown0.354Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF880-N202Hhet unknown0.292Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF880-Q406Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZNF880-K471Rhet unknown0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CACNG6-C252Shet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ZSCAN4-E387Khet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging)
0.5ZNF530-H110Qhet unknown0.727Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF530-H509Yhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5ACPT-P95Lhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5DHDH-S66Nhomozygous0.545Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DHDH-Q233*het unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5DHDH-V247Ahet unknown0.473Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DHDH-G282Rhet unknown0.093Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5PLA2G4C-T360Phet unknown0.161Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PLA2G4C-S203Phet unknown0.673Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PLA2G4C-P151Lhet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TMEM160-G120Shet unknown0.068Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.866 (probably damaging)
0.5SYNGR4-R27Whet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5FUT2-W154*homozygous0.364Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5FUT2-G258Shomozygous0.390Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.954 (probably damaging)
0.5PLEKHA4-S20Yhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.971 (probably damaging)
0.5BCAT2-T186Rhet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.548 (possibly damaging), Testable gene in GeneTests
0.5GCSH-S21Lhomozygous0.750Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SIX6-H141Nhomozygous0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.5HPD-T33Ahomozygous0.884Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KNTC1-K245Nhet unknown0.158Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.289 (possibly damaging)
0.5KNTC1-V2021Ghet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.992 (probably damaging)
0.5SGCG-N287Shomozygous0.843Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CENPJ-M21Vhet unknown0.154Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5HNF1A-I27Lhet unknown0.311Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HNF1A-S487Nhet unknown0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HNF1A-S574Ghomozygous0.976Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SH2B3-W262Rhomozygous0.768Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LARP4-F351Lhet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.99 (probably damaging)
0.5KRT6B-G499Shet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KRT6B-I365Vhet unknown1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5KRT6C-V481Ihet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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
0.5IRAK3-H57Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5IRAK3-I147Vhomozygous0.632Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5B3GALTL-E370Khomozygous0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.5CSNK1A1L-R170Shet unknown0.091Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.9 (probably damaging)
0.5CSNK1A1L-D42Ehet unknown0.614Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PSMB11-G49Shet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging)
0.5PCK2-Q121Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COCH-T352Shomozygous0.382Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5WDHD1-P638Ahet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (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
0.5FANCM-N1253Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5FANCM-N1876Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.01 (benign), Testable gene in GeneTests with associated GeneReview
0.5PSMB5-R24Chet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.982 (probably damaging)
0.5RPGRIP1-P96Qhet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5ARL11-P131Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.895 (probably damaging)
0.5ATP7B-V1140Ahomozygous0.495Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP7B-R952Khomozygous0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP7B-K832Rhomozygous0.455Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.461 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5ATP7B-V456Lhomozygous0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5ATP7B-S406Ahomozygous0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5ABCC4-T1142Mhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5NR_028064-G139Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NR_028064-T119Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NR_028064-H49QhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_028064-H41Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5COL4A1-T555Phomozygous0.994Unknown
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: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VDR-M1Thet unknown0.687Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5MEN1-T546Ahomozygous0.791Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCYL1-D633Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SCYL1-A635Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AIP-Q228Khomozygous0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AIP-Q307Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IGHMBP2-L201Shomozygous0.650Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IGHMBP2-I275Vhet unknown0.138Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IGHMBP2-T671Ahet unknown0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IGHMBP2-R694Whet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ROM1-G118Ahomozygous0.931Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests
0.5MS4A14-I56Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MS4A14-N177Yhomozygous0.543Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
0.5MS4A14-G584Rhet unknown0.513Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5SMPD1-V36Ahet unknown1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SMPD1-AL48Delhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SMPD1-E517Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SBF2-E679Khet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RASSF10-Q302Hhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5PEX16-V116Ihomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-G102Shet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-F124Shomozygous0.803Unknown
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
0.5TPCN2-V219Ihet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.782 (possibly damaging)
0.5TPCN2-M484Lhet unknown0.071Unknown
benign
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.333 (possibly damaging)
0.5TPCN2-L564Phomozygous0.719Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TPCN2-G734Ehet unknown0.167Unknown
benign
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MYO7A-S1666Chomozygous0.610Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SNX19-L878Rhomozygous0.808Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-N753Shomozygous0.617Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-L618Fhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-V361Lhomozygous0.671Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5WNK1-T1056Phomozygous0.838Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-C1506Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-M1808Ihet unknown0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GNB3-G272Shet unknown0.027Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.184 (benign)
0.5LRRK2-R50Hhomozygous0.927Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-S1647Thet unknown0.294Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-M2397Thomozygous0.526Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLCO1B3-S112Ahomozygous0.646Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLCO1B3-M233Ihomozygous0.659Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.131 (benign)
0.5ST14-R381Shet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.657 (possibly damaging)
0.5DPAGT1-I393Vhomozygous0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RSF1-N1074Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5RSF1-E1073Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AMOTL1-G871Shifthet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ATM-D1853Nhet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATM-N1983Shomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTC12-M73Lhet unknown0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TTC12-M468Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5EXPH5-N1967Dhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EXPH5-G1663Rhet unknown0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EXPH5-C1311Rhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5EXPH5-S738Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5EXPH5-S676Nhet unknown0.647Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EXPH5-E137Vhet unknown0.254Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EXPH5-R19Ghet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TRPV4-P19Shet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5TTBK2-L8Phomozygous0.560Unknown
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
0.5SYNE2-M1969Thet unknown0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests
0.5SYNE2-A2284Vhet unknown0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-S2359Nhet unknown0.676Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-A2395Thomozygous0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-I2564Vhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-S2802Ghomozygous0.864Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.5SYNE2-I2942Vhet unknown0.622Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-E3026Dhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.027 (benign), Testable gene in GeneTests
0.5SYNE2-D3253Hhet unknown0.684Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests
0.5SYNE2-H3309Rhet unknown0.647Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5SYNE2-L5186Mhet unknown0.708Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TSHR-E727Dhomozygous0.895Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SERPINA1-V237Ahomozygous0.293Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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)
0.5SIPA1L1-F929Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.889 (probably damaging)
0.5ZFYVE26-N1891Shomozygous0.900Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZFYVE26-V1645Ghet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.5ZFYVE26-T898Shet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests
0.5ESRRB-P386Shet unknown0.058Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.069 (benign), Testable gene in GeneTests
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
0.5TP53BP1-K1141Qhet unknown0.586Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.123 (benign)
0.5TP53BP1-V1031Ahet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TP53BP1-G417Shet unknown0.427Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TP53BP1-D358Ehet unknown0.579Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MTHFD1-R653Qhomozygous0.320Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.375CDAN1-A991AVhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375CDAN1-R891Chet unknown0.246Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.375CDAN1-Q596Rhet unknown0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375CDAN1-Q107Lhet unknown0.175Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375COL6A3-A3012Phet unknown0.843Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375COL6A3-M2927Thet unknown0.674Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375COL6A3-A2257Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375COX10-R159Qhet unknown0.494Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375COX10-V366Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375H6PD-D151Ahet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.292 (possibly damaging)
0.375H6PD-R453Qhet unknown0.407Recessive
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).
0.375H6PD-P554Lhet unknown0.077Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.966 (probably damaging)
0.375PMS2-K541Ehet unknown0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375PMS2-I18Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375TEP1-I2486Mhet unknown0.373Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375TEP1-V2214Ihet unknown0.326Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375TEP1-S1973Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DYNC2H1-K1413Rhomozygous0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.063 (benign), Testable gene in GeneTests
0.25DYNC2H1-G1786Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.25DYNC2H1-R2871Qhomozygous0.705Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DYNC2H1-A3687Vhet unknown0.292Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PTF1A-S263Phet unknown0.654Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests
0.25FANCI-A86Vhet unknown0.219Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FANCI-C742Shet unknown0.234Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ZNF204P-E93Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ZNF204P-K6Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SPATA7-V74Mhet unknown0.412Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MYO3A-R319Hhet unknown0.376Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO3A-I348Vhet unknown0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO3A-V369Ihet unknown0.642Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO3A-S956Nhet unknown0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25HMCN1-I2418Thet unknown0.553Unknown
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
0.25HMCN1-Q4437Rhet unknown0.547Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.25MKKS-G532Vhet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.067 (benign), Testable gene in GeneTests with associated GeneReview
0.25MKKS-R517Chet unknown0.215Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25ADAMTSL3-L290Vhet unknown0.833Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ADAMTSL3-V661Lhet unknown0.711Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ADAMTSL3-T1660Ihet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25CFH-V62Ihet unknown0.495Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CFH-H402Yhet unknown0.818Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CFHR1-H157Yhet unknown0.169Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CFHR1-L159Vhet unknown0.473Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CFHR1-E175Qhet unknown0.518Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TRIM15-S324Nhet unknown0.155Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TRIB3-Q84Rhet unknown0.188Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LBR-S154Nhet unknown0.713Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC28A1-L140LVhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLC28A1-V189Ihet unknown0.313Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC28A1-D521Nhet unknown0.226Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25F13A1-P565Lhet unknown0.213Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25F13A1-V35Lhet unknown0.143Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GNPAT-D519Ghet unknown0.131Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.025 (benign), Testable gene in GeneTests
0.25SLC3A1-M618Ihet unknown0.406Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25THADA-C1605Yhet unknown0.137Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.387 (possibly damaging)
0.25THADA-T1385Shet unknown0.180Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25THADA-T1187Ahet unknown0.149Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.384 (possibly damaging)
0.25PHC1-D201Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PHC1-R911Hhet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LHCGR-N312Shet unknown0.573Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GYS2-M363Vhet unknown0.729Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MSX2-M129Thet unknown0.716Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MCEE-A76Vhet unknown0.177Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP6V1B1-M1Thet unknown0.371Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ATP6V1B1-T30Ihet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CLCN7-V418Mhet unknown0.103Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25VWF-T1381Ahet unknown0.754Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25VWF-Q852Rhet unknown0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25VWF-H484Rhet unknown0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.83 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25OR6F1-F215Lhet unknown0.424Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OR6F1-P159Ahet unknown0.164Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.687 (possibly damaging)
0.25OR6F1-F28Shet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.822 (possibly damaging)
0.25OR6F1-P9Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25RYR2-Q2958Rhet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ALDH5A1-H180Yhet unknown0.334Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SARDH-M648Vhet unknown0.599Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SARDH-R614Hhet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.057 (benign), Testable gene in GeneTests
0.25FLT4-H890Qhet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.714 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25LAMA2-R619Hhet unknown0.300Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25LAMA2-A2585Vhomozygous0.594Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FAM83E-P311Lhet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.25TSC1-M322Thet unknown0.150Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FGF21-R159Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25FGF21-L174Phet unknown0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GDF5-S276Ahet unknown0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ERCC6-R1230Phet unknown0.031Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25ERCC6-G399Dhet unknown0.246Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KCNQ4-H455Qhet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.191 (benign), Testable gene in GeneTests with associated GeneReview
0.25CYP2D6-T486Shet unknown0.331Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CYP2D6-C296Rhomozygous0.649Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CYP2D6-H94Rhet unknown0.112Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CYP2D6-P34Shet unknown0.224Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25COL9A2-Q326Rhet unknown0.403Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ABCC8-A1369Shet unknown0.755Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25USH1C-E819Dhet unknown0.408Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BDNF-V148Mhet unknown0.208Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PCNT-H156Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PCNT-G704Ehomozygous0.855Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PCNT-V1038Ahomozygous0.847Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PCNT-P2274Lhet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), 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
0.25THAP7-A115Phet unknown0.863Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.25THAP7-A115Phet unknown0.863Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.25CALHM1-L86Phet unknown1.000Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25EYS-L1419Shet unknown0.780Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-L852Phomozygous0.655Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-E641Vhet unknown0.112Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-T120Mhet unknown0.165Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SCO2-R20Phet unknown0.690Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CLCNKA-Y315Fhet unknown0.222Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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
0.25MUC5AC-S221Rhet unknown0.221Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC5AC-V497Ahomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC5AC-M2832Thomozygous0.794Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC5AC-F3655Shomozygous0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC5AC-V4437Ihomozygous0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC5AC-Q6036Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TH-V108Mhet unknown0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ACADSB-R13Khet unknown0.171Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.08 (benign), Testable gene in GeneTests
0.25SHANK3-I245Thet unknown0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PINK1-N521Thet unknown0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDA-K27Qhet unknown0.190Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ARMS2-R38*het unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation, Testable gene in GeneTests
0.25PLCE1-R1575Phet unknown0.517Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PLCE1-T1777Ihet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PLCE1-H1927Rhet unknown0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25LEPR-K109Rhet unknown0.332Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.026 (benign), Testable gene in GeneTests
0.25LEPR-Q223Rhet unknown0.569Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.484 (possibly damaging), Testable gene in GeneTests
0.25LCE2B-P17Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25LCE2B-I51Shet unknown0.225Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HLA-DQA1-Q57Ehet unknown0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQA1-M230Vhet unknown0.782Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ANKRD35-P428Shet unknown0.570Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.25ANKRD35-E661Qhet unknown0.317Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.08 (benign)
0.25ANKRD35-R924*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
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
0.25PCDH15-G385Shet unknown0.252Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LHX4-N328Shet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FMO3-E158Khet unknown0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FMO3-E308Ghet unknown0.104Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.141 (benign), Testable gene in GeneTests with associated GeneReview
0.25HSPA1L-T493Mhet unknown0.868Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25GGCX-R325Qhet unknown0.454Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25MMP9-Q279Rhet unknown0.477Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MMP9-R574Phomozygous0.813Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MMP9-R668Qhet unknown0.187Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC25A47-R135Lhet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.673 (possibly damaging)
0.25SLC25A47-R267*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
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: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ABCA4-H423Rhet unknown0.232Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC35C1-I227Vhet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC19A1-H27Rhet unknown0.447Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25SLC39A13-T20Ahet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC39A13-E28Ghomozygous0.649Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC39A13-R40Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CBR3-C4Yhet unknown0.391Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25SERPING1-V480Mhet unknown0.108Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.25CDH4-N367Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CDH4-K625Rhet unknown0.541Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KCNQ2-N780Thet unknown0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KCNE1-S38Ghet unknown0.710Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25MERTK-S118Nhet unknown0.138Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MERTK-R466Khet unknown0.550Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MERTK-I518Vhet unknown0.550Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TXNDC3-R43Khet unknown0.291Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LIG4-T9Ihet unknown0.132Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.966 (probably damaging)
0.25BC033456-K101Ehomozygous0.969Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25BC033456-F52Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CLCN2-T668Shet unknown0.378Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CDC27-L619Fhet unknown0.200Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDC27-F617Lhet unknown0.150Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDC27-FE516CKhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDC27-V239Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MGAM-S472*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25MGAM-N858Dhomozygous0.978Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DOK7-H113Phet unknown0.183Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DOK7-T137Ihet unknown0.177Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NR_002144-DDDFE68Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NR_002144-SE75Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NR_002144-L77Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NR_002144-Q280Rhomozygous0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NR_002144-Y307Hhomozygous0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NR_002144-L312Rhomozygous0.856Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25F7-R391Qhet unknown0.139Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CD19-L174Vhet unknown0.876Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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
0.25MCCC1-H464Phet unknown0.408Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AXIN2-P50Shet unknown0.264Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC7A9-L223Mhet unknown0.265Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.25SLC7A9-V142Ahet unknown0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25APC-V1822Dhet unknown0.887Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CLN5-K368Rhet unknown0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, 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
0.25PLD1-A622Shet unknown0.151Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CNTNAP2-C9Shet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.134 (benign), Testable gene in GeneTests
0.25CNTNAP2-C21*het unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation, Testable gene in GeneTests
0.25TBX4-G6Ahet unknown0.219Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.497 (possibly damaging), Testable gene in GeneTests
0.25SH2B1-T484Ahet unknown0.217Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25UNC93A-R226*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25UNC93A-M403Thet unknown0.439Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CFTR-V470Mhet unknown0.621Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FANCA-G809Dhet unknown0.671Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FANCA-G501Shet unknown0.654Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FANCA-T266Ahet unknown0.708Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview
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
0.25NIPBL-N674Shet unknown0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.028 (benign), Testable gene in GeneTests with associated GeneReview
0.25VWDE-F1485Chet unknown0.734Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25VWDE-K1273Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25VWDE-Q1256Khet unknown0.720Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25VWDE-C1050Yhet unknown0.138Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25VWDE-T1032Mhomozygous0.773Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25VWDE-G1009Rhet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25VWDE-K964Nhet unknown0.510Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25VWDE-C890Fhet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25VWDE-E869Khet unknown0.176Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25VWDE-Y804Hhet unknown0.191Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25VWDE-S607Fhomozygous0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25VWDE-R385*het unknown0.202Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.25VWDE-G340Dhomozygous0.845Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25VWDE-F292Ihomozygous0.615Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25VWDE-S142Fhet unknown0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25VWDE-R39Hhet unknown0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FGA-T331Ahet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.306 (possibly damaging), Testable gene in GeneTests
0.25HOXA1-R73Hhet unknown0.743Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TLR3-L412Fhet unknown0.200Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.991 (probably damaging)
0.25GPR56-S281Rhet unknown0.750Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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-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
0.25MANBA-T701Mhet unknown0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MANBA-V253Ihet unknown0.343Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25ELN-G422Shet unknown0.225Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL1A2-P549Ahet unknown0.907Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MYO15A-A595Thet unknown0.557Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO15A-C1977Rhet unknown0.746Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO15A-R2038Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TLR1-S602Ihet unknown0.727Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TLR1-N248Shet unknown0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25CYP3A43-P340Ahet unknown0.215Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.925 (probably damaging)
0.25MPDU1-A229Thet unknown0.188Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CHRNB1-E32Ghet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.288 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25MTTP-Q95Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MTTP-I128Thet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MTTP-H297Qhet unknown0.636Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, 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
0.25VCAN-K1516Rhet unknown0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25VCAN-F2301Yhet unknown0.462Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NOD2-P268Shet unknown0.105Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25UGT2B7-Y268Hhet unknown0.727Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MYH15-T1125Ahet unknown0.180Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.007 (benign)
0.25MYH15-H504Yhet unknown0.578Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.997 (probably damaging)
0.25COG1-N392Shet unknown0.536Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ABAT-Q56Rhet unknown0.485Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25LRP2-G4417Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25LRP2-I4210Lhet unknown0.462Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.25LRP2-K4094Ehet unknown0.744Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25LRP2-A2872Thet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25LRP2-G259Rhet unknown0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25LRP2-N83Shet unknown0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25ABCB11-V444Ahet unknown0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25LITAF-I92Vhet unknown0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NEUROD1-T45Ahet unknown0.754Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CASP10-L522Ihet unknown0.309Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25AOX1-N1135Shet unknown0.195Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KRT1-K633Rhet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KRT5-D197Ehet unknown0.276Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.25KRT83-H493Yhet unknown0.791Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MAN2B1-A481Shet unknown0.161Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MAN2B1-R337Qhet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.027 (benign), Testable gene in GeneTests with associated GeneReview
0.25MAN2B1-T312Ihet unknown0.324Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.045 (benign), Testable gene in GeneTests with associated GeneReview
0.25MAN2B1-L278Vhet unknown0.236Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25IL7R-I66Thet unknown0.597Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25IL7R-V138Ihet unknown0.689Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PFKM-R100Qhet unknown0.164Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.01 (benign), Testable gene in GeneTests
0.25GARS-P42Ahet unknown0.654Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RGPD5-P1760Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25RGPD5-C1601Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25RGPD5-I1499Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25RGPD5-D7Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25GLI2-A1156Shet unknown0.536Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GLI2-D1306Nhet unknown0.595Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CELA1-L210Shifthet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25CELA1-M59Vhet unknown0.142Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.24 (possibly damaging)
0.25CELA1-Y5Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CELA1-V3Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25DL492456-R148Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25DL492456-Y109ChomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25DL492456-W104*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25NOTCH3-A2223Vhet unknown0.553Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MYO7B-G21Shet unknown0.461Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MYO7B-L1351Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MYO7B-E1647Dhet unknown0.137Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.136 (benign)
0.25MYO7B-Q2105Rhet unknown0.169Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.949 (probably damaging)
0.25CNGB3-T298Phet unknown0.681Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview
0.25CNGB3-C234Whet unknown0.939Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SH3TC2-A468Shet unknown0.198Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25SGSH-R456Hhet unknown0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MLH1-I219Vhet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25C5orf20-R117*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25C5orf20-N97Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C5orf20-T75Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25FSTL4-N417Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25FSTL4-R158Hhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.25SACS-V3369Ahet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.769 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25SUCLA2-S199Thet unknown0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FREM2-S745Phomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FREM2-F1070Shet unknown0.527Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FREM2-T2326Ihet unknown0.768Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC22A4-I306Thet unknown0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25SLC22A4-L503Fhet unknown0.142Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MYH11-A1241Thet unknown0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NM_001161546-V763AhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NM_001161546-R298Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25DSC3-R102Khet unknown0.479Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DSC3-S78Thet unknown0.478Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.314 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25CDH16-A577Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CDH16-A549Thet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.25GRIP1-Q769Ehomozygous0.881Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GRIP1-E254*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25CPO-M85Ihet unknown0.426Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.196 (benign), Testable gene in GeneTests
0.25CPO-S134Rhet unknown0.476Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CTLA4-T17Ahet unknown0.463Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25MMAB-M239Khet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MMAB-R19Qhet unknown0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATIC-T116Shet unknown0.184Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25SRA1-V110RLhet unknown0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RAX-D44Ehet unknown0.189Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25SPINK5-Q267Rhet unknown0.475Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SPINK5-A335Vhet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SPINK5-S368Nhet unknown0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SPINK5-K420Ehet unknown0.380Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SPINK5-R711Qhet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KISS1R-L364Hhet unknown0.875Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0MBL2-R52Chet unknown0.035Recessive
pathogenic
Low clinical importance,
likely
This variant is associated with mannose binding protein deficiency which leads to impaired complement system immune response to mannose-rich pathogens. Patients homozygous for this allele or compound heterozygous are likely to have increased susceptibility to infection, but Hellemann et al. report heterosis for intensive care outcomes in heterozygous subjects. The wild-type version of this gene is known as variant allele A, while this is called variant allele D. See G54D (variant B) and G57E (variant C).
0ASL-S254Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0MEFV-R202Qhet unknown0.111Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
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.

Input file format: CGIVAR

Genome build: b37

Genome coverage: 2,789,889,176 bases (97.6% of callable positions, 90.6% of total positions)

Coding region coverage: 32,938,769 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":

Log in