hu8229AE - GET-Evidence variant report

Variant report for hu8229AE

Log file: 




VariantClinical
Importance
ImpactAllele
freq
Summary
1C3-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
2SERPINA1-E288VLowWell-establishedWell-established pathogenic

Recessive, Carrier (Heterozygous)
0.0304889This variant represents the PiS variant in alpha-1-antitrypsin deficiency where a homozygous individual has 60% enzymatic activity. This variant alone is unlikely to much effect, but 3-4% of heterozygotes are compound heterozygous with the more severe PiZ variant, which is associated with an increased risk of emphysema and COPD.1
3MTRR-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
4APOA5-S19WLowLikelyLikely pathogenic

Unknown, Heterozygous
0.0646151This variant, also known as APOA5*3, is associated with higher plasma triglyceride concentrations but no significant correlation with coronary artery disease itself has been found.1
5RNASEL-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
6LRP5-A1330VLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.110367In a study of a UK population this variant was associated with a small increased risk of osteoporosis and osteoporotic bone fractures, with each copy of the variant presumed to have an additive effect. A study in Chinese young men failed to find an association with peak bone density. 1
7TGIF1-P83ShiftLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.138889Severe variants in this gene are associated with holoprosencephaly disorders when combined with loss-of-function variants in SHH. Haploinsufficiency was identified in some families with this condition. It is unclear how likely this variant is to occur in combination with an SHH variant, or what phenotypic effect the variant would have on its own.1
8TP53-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
9SP110-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
10WFS1-R611HLowUncertainUncertain not reviewed

Recessive, Carrier (Heterozygous)
0.400446This nonsynonymous SNP is associated with Wolfram Syndrome (known as DIDMOAD), which is characterized by early-onset non-autoimmune diabetes mellitus, diabetes insipidus, optic atrophy, and deafness) and to adult Type Two Diabetes Mellitus. The WFS1 gene maps to chromosome 4p16.3. The variant has been shown to be statistically associated with type II diabetes in six UK studies and one study of Ashkenazi Jews (Sandhu, M., et al., Minton et al.).1
11BRCA2-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
12ERCC6-R1213GLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.196877When homozygous, this variant may cause Cockayne Syndrome, which is a severe autosomal-recessive disorder characterized by abnormal early growth and development, abnormal sensitivity to sunlight, and premature aging. Cockayne Syndrome Type I and Type II lead to death in early childhood. Several other variants in the ERCC6 gene are linked to Cockayne Syndrome. This variant may also be linked to age-related macular degeneration like other ERCC6 variants, and has been linked to colorectal cancer in one study. 1
13CLEC7A-Y238XLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.0632088This variant has been found to impair homan mucosal antifungal defense and was implicated in vulvovaginal candidiasis and mucocutaneous infections in a Dutch family.1
14rs1544410LowUncertainUncertain 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
15CASP10-V410ILowLikelyLikely protective

Dominant, Homozygous
0.0474066Reported to have a protective effect on breast cancer. If the lifetime risk of breast cancer is 12%, women with this variant may have a lower risk of 8-9% (30% less than average).1
16NPC1-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
17CFH-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
18TOR1A-D216HLowLikelyLikely protective

Unknown, Heterozygous
0.102993This SNP has been shown to be benign and play a protective role against Dystonia. 1
19KCNJ11-K23ELowLikelyLikely protective

Unknown, Homozygous
0.738148This variant is associated with decreased risk of type 2 diabetes. It is unclear whether this variant has additive effects, or acts in a dominant or recessive manner. Assuming diabetes has a lifetime risk of 36%, we estimate a decreased risk of around 1-2% per copy of this variant.1
20LIG4-A3VLowUncertainUncertain protective

Dominant, Heterozygous
0.035843One report has associated this with a decreased risk of multiple myeloma.1
21MLH1-I219VLowUncertainUncertain benign

Dominant, Heterozygous
0.239822Computational evidence, functional assays, and case/control studies suggest this variant is probably benign.1
22RPGRIP1-A547SLowUncertainUncertain benign

Complex/Other, Heterozygous
0.232202Probably benign. Implicated in causing autosomal recessive cone-rod dystrophy, but a later report found the same incidence in controls and concludes it is not causal.1
23TAS2R38-I296VLowUncertainUncertain benign

Unknown, Homozygous
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
24UNC13D-R928CLowUncertainUncertain benign

Unknown, Heterozygous
0.0157473This variant was seen, along with other variants, in two cases of haemophagocytic lymphohistiocytosis — however, the variant frequency in these cases does not significantly differ from later reported frequency of the variant in exome sequencing data (1.4%). If the variant were causal it would be significantly enriched in cases; instead, it is likely a polymorphism unrelated to the disease in these patients.1
25TYR-S192YLowUncertainUncertain benign

Unknown, Heterozygous
0.270682This variant is reported to affect skin pigmentation. It is associated with lighter skin in South Asians (OR 4-5) and with a lack of freckles in Europeans (OR 1.3).1
26TPCN2-G734ELowUncertainUncertain benign

Unknown, Heterozygous
0.286166Pigmentation allele.1
27TAS2R38-A49PLowUncertainUncertain benign

Unknown, Homozygous
0.431121This variant is strongly associated with causing the "taster" phenotype of phenylthiocarbamine (PTC) in a dominant manner.1
28PCSK9-G670ELowUncertainUncertain benign

Unknown, Homozygous
0.888269This variant is likely benign. 1
29GUCY2D-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
30FAH-R341WLowUncertainUncertain benign

Recessive, Carrier (Heterozygous)
0.0172895This variant shows pseudodeficiency for production of FAH protein which is connected with hereditary tyrosinemia type I. Pseudodeficiency was confirmed with site-directed mutagenesis and expression in a rabbit reticulocyte lysate system. The allelic frequency in 516 Norwegian controls was 0.022. 1
31CBLC-H405YLowUncertainUncertain benign

Unknown, Heterozygous
0.0374605Probably benign.1
32APOB-Y1422CLowUncertainUncertain benign

Unknown, Homozygous
0.999628This position is almost certainly an error in the HG18 reference sequence. 1
33MAPT-R370WLowUncertainUncertain benign

Unknown, Homozygous
0.155549Probably benign.1
34NTRK1-H604YLowUncertainUncertain benign

Unknown, Heterozygous
0.0431307Various databases and papers treat this variant as a non-pathogenic polymorphism, although it is fairly uncommon and is computational methods predict it to be damaging.1
35RP1-N985YLowUncertainUncertain benign

Unknown, Heterozygous
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
36PTCH1-P1315LLowUncertainUncertain benign

Unknown, Heterozygous
0.29631Common polymorphism, presumed benign.1
37PKP2-L366PLowUncertainUncertain benign

Unknown, Heterozygous
0.221231This variant is a benign polymorphism. 1
38NTRK1-G613VLowUncertainUncertain benign

Unknown, Heterozygous
0.0429448Also called G607V, this variant has been reported as a nonpathogenic polymorphism.1
39SLC45A2-L374FLowUncertainUncertain benign

Unknown, Homozygous
0.691764Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma.1
VariantPrioritization scoreAllele
freq
Num of
articles
Zygosity and Prioritization Score Reasons

Exome coverage: 32819928 / 33212919 = 98.82%

GeneChromosomeCoverageMissingLengthMissing regions
1AGRN10.950635386119263036138955553-955599, 955606-955657, 955667, 955674, 955697, 955700, 976210-976216, 976251-976260, 977056-977082, 977517-977532, 981795-981796, 981806, 981861, 981977-981984, 981987-981988, 983425, 983604-983721, 983734, 983737-983740, 983744-983745
2GABRD10.950699043414286713591950864-1950930
3NPHP410.99976640971736142815935151
4ESPN10.9497076023391812925656500416, 6500482-6500488, 6500717-6500738, 6500756-6500764, 6500782, 6500839-6500868, 6501029-6501035, 6505844-6505890, 6508822-6508826
5PLEKHG510.9495139542176216131896534125-6534164, 6534173-6534195, 6534217-6534224, 6534511-6534594, 6534608-6534609, 6557380-6557383
6KIF1B10.9915302089215145531310356974-10357003, 10425549-10425559, 10425584-10425587
7TARDBP10.9510040160642661124511080523-11080534, 11082322-11082369, 11082530
8CLCNKA10.9898255813953521206416358268-16358274, 16360134-16360147
9CLCNKB10.9864341085271328206416373044-16373050, 16378881-16378887, 16383392-16383405
10ATP13A210.998024273214797354317313607, 17322608, 17322619-17322623
11PINK110.996563573883166174620960307-20960310, 20960317, 20960322
12HSPG210.99461141469338711317622190597-22190604, 22263648-22263710
13WNT410.9270833333333377105622469339-22469415
14GALE10.997134670487113104724123033-24123035
15SEPN110.89028776978417183166826126722-26126904
16KCNQ410.997126436781616208841249776, 41249993, 41284245, 41284259, 41284303-41284304
17CLDN1910.974814814814811767543201567-43201580, 43201589-43201591
18MPL10.999475890985321190843818356
19STIL10.9968968192397212386747755246-47755257
20ORC110.998839907192583258652851553-52851555
21DHCR2410.998065764023213155155352600-55352602
22PCSK910.9990379990382207955505551-55505552
23LEPR10.997998856489427349866083728, 66085701-66085706
24DPYD10.9896036387264532307897847949-97847951, 97847955-97847965, 97847975-97847992
25AGL10.9995651228527924599100340776-100340777
26COL11A110.9780098955471205457103364222-103364282, 103364288-103364292, 103364315-103364329, 103364497-103364498, 103364540-103364545, 103381204-103381211, 103412455-103412456, 103412462, 103435811-103435823, 103435828, 103470189, 103470192, 103471841, 103471861, 103471864, 103548485
27GSTM110.41552511415525384657110230496-110230531, 110230792-110230815, 110230839, 110230841, 110230854, 110230858, 110231295-110231342, 110231688-110231694, 110231714, 110231721, 110231724-110231729, 110231742-110231744, 110231847-110231947, 110232893-110232898, 110232905, 110232928, 110232934-110232943, 110232953-110232988, 110233076-110233174
28NOTCH210.98692017259978977416120458189-120458191, 120539668, 120539687, 120539691, 120539711, 120539778-120539784, 120539913-120539939, 120547962-120547968, 120548025, 120548051, 120548055, 120548091-120548097, 120572544-120572575, 120611960, 120611964, 120612003-120612004, 120612006, 120612013-120612014
29FLG10.996963728869193712186152276487-152276493, 152276668-152276674, 152277032-152277038, 152277498, 152278434, 152280570-152280576, 152281350-152281356
30LMNA10.9735449735449715567156105077-156105091
31LMNA10.99248120300752151995156105077-156105091
32NTRK110.99539941447093112391156830727-156830729, 156830735, 156830751-156830753, 156830779, 156830782, 156830787, 156843440
33MPZ10.9987129987131777161276186
34F510.99700374531835206675169510325-169510343, 169510475
35DARS210.998452012383931938173802577, 173802580-173802581
36NPHS210.9991319444444411152179544863
37LAMC210.99720826353992103582183155493-183155501, 183155518
38HMCN110.9995268511947816908186031081-186031088
39PDC10.99190283400816741186418584-186418589
40CFH10.98593073593074523696196658731, 196658735, 196682887-196682890, 196706732-196706733, 196706751, 196716353-196716395
41CFHR110.991943605236668993196797354-196797360, 196801078
42CFHR510.9970760233918151710196953091-196953094, 196967258
43ASPM10.998083189572552010434197069698, 197069709-197069717, 197069725-197069729, 197069767-197069769, 197113167, 197113186
44CRB110.9992892679459834221197396963-197396965
45CD4610.98416666666667191200207940409-207940427
46USH2A10.999359343968221015609215916553, 215916563, 215931937-215931938, 216251510, 216496823, 216496828, 216496925-216496927
47GJC210.844696969696972051320228345514-228345521, 228345571-228345588, 228345625-228345631, 228345681-228345685, 228345689, 228345752-228345758, 228345784-228345809, 228346030-228346070, 228346095-228346109, 228346336-228346404, 228346449-228346451, 228346475, 228346593, 228346598, 228346604, 228346632
48ACTA110.9991181657848311134229567925
49LYST10.99736980536563011406235875446, 235875465-235875466, 235875474, 235875495, 235907365-235907366, 235929577, 235938385-235938386, 235944237-235944239, 235944265, 235944268, 235944329, 235944339, 235950500-235950501, 235950672-235950673, 235967839, 235967842-235967844, 235972224, 235972391-235972394
50MTR10.99578725645076163798237013668, 237013724, 237013807-237013818, 237024425-237024426
51RYR210.997383252818043914904237656317-237656318, 237656323, 237821244-237821271, 237821301, 237824110-237824111, 237881767, 237881770, 237881776-237881778
52NET1100.99609156895589717915454768-5454774
53GATA3100.99475655430712713358100742-8100748
54DCLRE1C100.9966329966337207914981847-14981853
55CUBN100.99668874172185361087216878294-16878302, 16949565-16949579, 17085891, 17085973-17085976, 17142033-17142038, 17142048
56PTF1A100.9918946301925898723481870-23481875, 23481912-23481913
57PDSS1100.999198717948721124826994267
58RET100.9901345291479833334543572707-43572717, 43572731-43572732, 43572741-43572746, 43572749-43572751, 43572762-43572770, 43572778-43572779
59ERCC6100.999776885319051448250740819
60CHAT100.92790387182911162224750822266-50822427
61PCDH15100.9964340295466121588955587206, 55587209-55587220, 55587231-55587236, 55587243, 55719508
62CDH23100.99860779634049141005673206075, 73462364-73462365, 73567279-73567281, 73574756-73574763
63PSAP100.999365079365081157573579579
64MAT1A100.9915824915824910118882045284-82045293
65LDB3100.998626373626373218488476088, 88476091, 88476206
66BMPR1A100.999374609130711159988683146
67GLUD1100.995825879546817167788836362-88836368
68LIPA100.999166666666671120090988036
69HPS1100.98385565052232342106100177326-100177359
70PAX2100.98768283294842161299102566307-102566322
71FBXW4100.9959644874899151239103436141-103436142, 103454358-103454360
72HPS6100.999570446735412328103826692
73SUFU100.99175257731959121455104263975-104263980, 104263983-104263988
74HTRA1100.94733194733195761443124221169-124221217, 124221219-124221224, 124221252-124221253, 124221256, 124221270, 124221276, 124221316-124221323, 124221336-124221337, 124221347-124221352
75UROS100.9824561403508814798127483517-127483530
76SLC25A22110.9742798353909525972792625-792626, 792630-792631, 792634-792636, 792647-792649, 792659-792661, 792665-792670, 792673-792675, 792682-792683, 792884
77PNPLA2110.99339933993399101515819807, 819828-819836
78CTSD110.970137207425343712391775329-1775358, 1785070-1785073, 1785079-1785081
79TNNI2110.9981785063752315491861760
80TH110.99555555555556715752191963-2191968, 2191979
81CDKN1C110.697160883280762889512905927-2905986, 2905999-2906005, 2906061-2906262, 2906409, 2906412-2906415, 2906424, 2906460-2906462, 2906466, 2906470-2906476, 2906496, 2906502
82SMPD1110.99947257383966118966411935
83SBF2110.996936936936941755509838398, 9985340-9985341, 9985395-9985406, 10052614-10052615
84USH1C110.999259259259262270017531080, 17531335
85ANO5110.9755652808169267274222249052-22249060, 22276987-22277005, 22277011, 22277014, 22277023-22277029, 22277039-22277068
86RAG1110.998722860791834313236594873, 36594924, 36594927-36594928
87SLC35C1110.999053030303031105645827805
88MADD110.998584142394827494447331113-47331119
89SLC39A13110.999103942652331111647431750
90SERPING1110.999334664005321150357365761
91ROM1110.999053030303031105662381084
92SLC22A12110.9861612515042123166264367216-64367217, 64367268-64367288
93MEN1110.999458874458871184864573223
94BBS1110.996071829405167178266299430-66299436
95NDUFV1110.999283154121861139567379927
96LRP5110.9944306930693127484868080197, 68080209-68080211, 68080215-68080218, 68080221-68080238, 68131221
97IGHMBP2110.9909456740442727298268704530-68704556
98DHCR7110.9817927170868326142871146573-71146585, 71146590-71146595, 71146606-71146612
99MYO7A110.9980445246690713664876922282, 76922295-76922304, 76922308-76922309
100FZD4110.999380421313511161486666081
101DYNC2H1110.9863267670915417712945102984295, 102984301, 102984315-102984316, 102984319-102984320, 102984368-102984369, 102992207-102992213, 103006665, 103006672, 103006675-103006677, 103029457-103029484, 103029744, 103031716, 103036735, 103043811-103043836, 103043954-103043956, 103044033, 103049831, 103052517-103052541, 103059240-103059277, 103059318, 103062253, 103062907-103062910, 103062919-103062922, 103082518, 103082540-103082541, 103082565-103082570, 103093711-103093713, 103093717, 103126877-103126883, 103130666, 103130681
102ATM110.988877984952571029171108126958-108126961, 108126970-108127067
103ALG9110.99128540305011161836111728429-111728444
104DLAT110.9969135802469161944111909973-111909978
105ROBO3110.99086757990868384161124738935, 124738938, 124739423-124739426, 124739435, 124748635-124748636, 124750436-124750464
106KCNJ1110.9974489795918431176128709135-128709137
107CACNA2D4120.997949619215734142022196-2022202
108CACNA1C120.99862825788752965612705093-2705094, 2794934-2794940
109VWF120.9837716180999813784426103069-6103071, 6103082, 6122709, 6125301-6125307, 6125372, 6125718-6125728, 6127532-6127538, 6127637-6127661, 6128554-6128560, 6128784-6128790, 6131925-6131932, 6131955-6131982, 6132003-6132033
110TNFRSF1A120.99707602339181413686439004-6439007
111SCNN1A120.99908550525834221876472762-6472763
112ATN1120.991043940666113235737045599-7045600, 7045603-7045604, 7045607-7045608, 7045892-7045917
113GYS2120.998106060606064211221712065-21712068
114ABCC9120.9965591397849516465021998552, 22015987-22015988, 22025602, 22063800-22063801, 22063815, 22063874, 22063886, 22069995-22069998, 22070005-22070007
115KRAS120.99824561403509157025380242
116DNM1L120.999095431931252221132890094-32890095
117KIF21A120.9969915764139615498639756978, 39761759-39761768, 39761775-39761778
118LRRK2120.9911656118143567758440645156, 40696666, 40753068, 40761446-40761479, 40761494-40761519, 40761525-40761527, 40761544
119VDR120.9852024922118419128448251352-48251358, 48251368-48251371, 48251382-48251389
120COL2A1120.998207885304668446448375914-48375921
121MLL2120.99632839773685611661449426641-49426643, 49426737, 49426740-49426742, 49426749, 49426754, 49426770-49426774, 49426890-49426892, 49426915-49426918, 49427262-49427291, 49427652-49427658, 49427664, 49427667, 49431842
122TUBA1A120.877192982456145645649522195-49522241, 49522308-49522314, 49522578, 49522605
123KRT81120.9743083003952639151852684021-52684027, 52684881-52684905, 52685160-52685166
124KRT86120.9801505817932929146152695754, 52696045-52696051, 52696927-52696933, 52699030-52699036, 52699545-52699551
125KRT6B120.9474926253687389169552841338-52841344, 52844243, 52844246, 52844265, 52845397-52845410, 52845527-52845534, 52845597-52845604, 52845662-52845687, 52845798-52845820
126KRT6C120.93805309734513105169552863213, 52865900-52865928, 52866060, 52867091-52867108, 52867186-52867193, 52867257-52867264, 52867321-52867353, 52867457-52867463
127KRT6A120.9634218289085562169552881868-52881874, 52886553-52886559, 52886638-52886644, 52886707-52886714, 52886772-52886797, 52886908-52886914
128KRT5120.996615905245356177352908849-52908850, 52908855-52908857, 52908893
129KRT1120.990697674418618193553072484-53072485, 53072504-53072518, 53073950
130MYO1A120.999680715197961313257424880
131TSFM120.9959100204499497858176625-58176628
132GNS120.998794454490662165965153018-65153019
133LEMD3120.9850146198830441273665612359-65612399
134CEP290120.9936827956989247744088454607-88454608, 88454615, 88454619, 88462339, 88472986, 88479839-88479842, 88490742, 88505633, 88513970-88513971, 88513982, 88514020-88514025, 88519038, 88519096-88519102, 88520097-88520103, 88520178, 88522745, 88522794, 88532962-88532968, 88534764
135PAH120.9992641648270811359103288640
136ATXN2120.942668696093352263942112036614, 112036617, 112036726-112036753, 112036761-112036768, 112036777-112036779, 112036782, 112036785, 112036790, 112036793, 112036797-112036800, 112036804-112036810, 112036814-112036823, 112036826, 112036893-112036895, 112036908, 112036911, 112036929-112036940, 112036949-112037020, 112037026-112037078, 112037187-112037202, 112037221
137HNF1A120.98101265822785361896121434358-121434369, 121437306-121437316, 121437381-121437392, 121438910
138PUS1120.9984423676012521284132425974, 132426014
139SGCG130.99885844748858187623777835
140SACS130.9997088791848641374023912861-23912863, 23915064
141PDX1130.944835680751174785228494547-28494593
142B3GALTL130.9913159652638613149731774228-31774240
143FREM2130.999684542586753951039261568-39261570
144SUCLA2130.99928160919541139248571020
145RB1130.999282382490132278748947572, 49051499
146ATP7B130.999317871759893439852523871-52523873
147SLITRK1130.9928263988522215209184455505-84455519
148ZIC2130.932457786116321081599100634393, 100634399, 100634402, 100634405-100634408, 100635013-100635016, 100635019, 100637704-100637734, 100637737, 100637740-100637747, 100637754-100637755, 100637758, 100637788-100637792, 100637798, 100637802-100637808, 100637824-100637842, 100637845-100637858, 100637877, 100637880-100637884, 100637900
149ERCC5130.98985609813635434239103468807-103468830, 103468890-103468893, 103514594-103514605, 103514608-103514610
150PABPN1140.892508143322489992123790742, 23790854-23790857, 23790872-23790875, 23790880-23790899, 23790921-23790973, 23790996-23791005, 23791014-23791020
151MYH6140.999140893470795582023855313-23855317
152PCK2140.998959958398342192324568258-24568259
153TGM1140.997555012224946245424724266-24724271
154FOXG1140.76734693877551342147029236561, 29236620-29236960
155NKX2-1140.999170812603651120636986835
156FANCM140.97966487717586125614745623900-45623963, 45623972-45624025, 45644340, 45653101-45653105, 45668054
157GCH1140.99734395750332275355369235, 55369238
158SYNE2140.9994209612044122072464457693, 64457710-64457714, 64460553-64460554, 64518310-64518311, 64522843, 64587749
159EIF2B2140.998106060606062105675471484, 75471531
160ESRRB140.999345121152591152776964706
161SPATA7140.9944444444444410180088859830, 88883144-88883149, 88883154, 88883169, 88883173
162TTC8140.997416020671834154889337904-89337907
163ATXN3140.9806629834254121108692537329-92537338, 92537354-92537358, 92537366, 92559645, 92559649-92559650, 92559661-92559662
164VRK1140.9890848026868213119197304119, 97304143-97304154
165AMN140.98751835535977171362103396580, 103396583-103396584, 103396587, 103396590, 103396613, 103396913-103396916, 103396928-103396934
166INF2140.925333333333332803750105173756, 105173762, 105173773, 105173779-105173781, 105173859-105174124, 105174185-105174190, 105174246, 105174324
167NIPA1150.8202020202020217899023086234-23086411
168UBE3A150.9843987823439941262825584284-25584292, 25601867-25601884, 25616251-25616257, 25616620-25616626
169TRPM1150.999792186201161481231320554
170CHST14150.9849690539345717113140763429-40763438, 40763455-40763457, 40763498, 40763501, 40763508, 40763747
171TTBK2150.998125836680057373543103886-43103888, 43103897, 43103910-43103912
172STRC150.9964339339339319532843892194-43892200, 43905329, 43910867-43910872, 43910878-43910881, 43910888
173STRC150.99162479061977559744004787-44004791
174DUOX2150.9965569184420116464745399072-45399087
175CEP152150.999798590130921496549036443
176CYP19A1150.9907407407407414151251507967-51507980
177HCN4150.9856035437430852361273614877-73614885, 73615034, 73615596, 73615599, 73616163-73616177, 73616188-73616193, 73660096-73660097, 73660103, 73660112-73660122, 73660512-73660516
178POLG150.997580645161299372089876828-89876836
179MESP2150.9773869346733727119490320121-90320146, 90320161
180HBZ160.8344988344988371429203945-203975, 204302-204305, 204315-204350
181HBM160.997652582159621426216279
182GFER160.86084142394822866182034227-2034234, 2034298-2034327, 2034340-2034387
183TSC2160.997603244837761354242103345-2103348, 2103399, 2103407, 2111872-2111877, 2121868
184PKD1160.93060718711276896129122140747, 2140958, 2140967-2140972, 2140975, 2140978-2140988, 2141013, 2141027, 2141137, 2141147-2141175, 2141818-2141827, 2147195-2147196, 2149672, 2149741-2149771, 2149862-2149879, 2149962-2149979, 2150019-2150025, 2150069-2150071, 2150245-2150256, 2150470-2150503, 2152086-2152092, 2152126-2152174, 2152605-2152611, 2153299-2153326, 2153592-2153598, 2153721-2153741, 2153764-2153782, 2153820-2153826, 2153848-2153874, 2154570-2154611, 2155426, 2155875-2155912, 2155981-2155987, 2156120-2156126, 2156248-2156254, 2156427-2156433, 2156590, 2156596, 2156599-2156600, 2156610, 2159144-2159150, 2159313-2159319, 2159403-2159409, 2159479-2159481, 2160718-2160734, 2160769-2160775, 2163179-2163185, 2164208-2164214, 2164805-2164838, 2165486-2165507, 2166563-2166595, 2166835-2166845, 2166915-2166921, 2166976-2166982, 2167797-2167835, 2167871-2167878, 2167969-2168000, 2168056-2168075, 2168141-2168170, 2168206-2168215, 2168254-2168271, 2169115, 2185552-2185562, 2185579-2185623, 2185659-2185690
185SLX4160.998183469573121055053639445-3639454
186CREBBP160.993177786874065073293777808-3777811, 3778401-3778403, 3778409-3778445, 3778449-3778453, 3778953
187GLIS2160.991746031746031315754387036-4387040, 4387050-4387052, 4387055-4387058, 4387202
188ALG1160.94050179211478313955128860, 5128879, 5130969-5130999, 5132572-5132606, 5132636, 5134776-5134782, 5134815-5134821
189MYH11160.99966329966332594015839093-15839094
190ABCC6160.9882535460992953451216308229-16308235, 16313531-16313539, 16315575-16315611
191UMOD160.9901196047841919192320360115-20360125, 20360129-20360132, 20360138-20360141
192OTOA160.997953216374277342021768527-21768533
193OTOA160.9929718875502799622584667-22584673
194PHKG2160.9221949221949295122130760142-30760236
195FUS160.999367488931061158131195306
196CYLD160.999650593990221286250811838
197SALL1160.9906918238993737397551175644-51175676, 51175682-51175684, 51175687
198RPGRIP1L160.998480243161096394853672225, 53682912-53682913, 53730162-53730164
199MMP2160.999495713565311198355513464
200CETP160.9878542510121518148257017506-57017523
201HSD11B2160.8743842364532153121867465160-67465275, 67465295, 67465298-67465307, 67465313-67465320, 67469983, 67469987-67470002, 67470285
202CIRH1A160.999029597282872206169173752-69173753
203COG8160.99945622620991183969364802
204TAT160.99706959706964136571604714-71604717
205GAN160.9938684503901911179481348837-81348847
206MLYCD160.93252361673414100148283932808-83932823, 83932836-83932837, 83932847-83932894, 83932973-83933000, 83933082-83933086, 83933098
207FOXF1160.997368421052633114086544211-86544213
208JPH3160.9928793947485516224787723683-87723687, 87723694-87723700, 87723707-87723710
209CYBA160.982993197278911058888709867-88709876
210GALNS160.99936265137031156988923221
211SPG7160.997068676716927238889579413-89579416, 89579419-89579420, 89579423
212FANCA160.999313186813193436889842213-89842215
213TUBB3160.998521803399852135390002030, 90002095
214ASPA170.9989384288747319423402370
215GP1BA170.99947916666667119204837750
216PITPNM3170.99658119658121029256358765, 6358769, 6358776, 6358796-6358801, 6358919
217GUCY2D170.9682971014492810533127906366-7906390, 7906400-7906479
218HES7170.9955752212389436788024999, 8025002-8025003
219MYH2170.9977686234122913582610446431-10446434, 10446443-10446446, 10446469-10446473
220ELAC2170.996372430471589248112896189-12896197
221COX10170.9887387387387415133214095306-14095312, 14095344-14095351
222RAI1170.9956301345918525572117697099-17697102, 17697105, 17697114-17697133
223MYO15A170.99886717643727121059318024013, 18024040-18024043, 18024145, 18024774, 18049333-18049337
224UNC119170.972337482710932072326879373, 26879376-26879378, 26879392, 26879400-26879403, 26879407, 26879412, 26879435, 26879441, 26879457-26879458, 26879494-26879495, 26879501-26879502, 26879509
225NF1170.9890845070422593852029422328-29422329, 29422347-29422348, 29422367-29422369, 29422382-29422387, 29527566-29527572, 29546084, 29556221-29556258, 29586080-29586081, 29586091-29586093, 29586123-29586130, 29588748-29588768
226KRT10170.9897435897435918175538975121-38975130, 38975136, 38975145-38975148, 38978766-38978768
227KRT14170.949260042283372141939738749-39738763, 39741304-39741309, 39742829-39742872, 39743030-39743036
228KRT16170.92827004219409102142239766240-39766281, 39768412-39768418, 39768490-39768496, 39768658-39768664, 39768721-39768759
229KRT17170.9684372594303341129939780414-39780440, 39780465-39780471, 39780516-39780522
230STAT5B170.9945008460236913236440371359-40371371
231SOST170.99844236760125164241832767
232GRN170.997755331088664178242429884, 42430054-42430056
233PLEKHM1170.9965310627562311317143531617-43531624, 43552537, 43552921, 43555372
234MAPT170.9995709995711233144073816
235WNT3170.999063670411991106844851210
236SGCA170.999140893470791116448247650
237RAD51C170.999115826702031113156770068
238BRIP1170.998666666666675375059793319-59793322, 59793406
239ACE170.9941341494516723392161554481-61554502, 61566095
240POLG2170.997256515775034145862476432-62476434, 62493015
241AXIN2170.99802527646135253263554542-63554546
242SOX9170.996078431372556153070120081, 70120111-70120115
243COG1170.9962623173632311294371189259-71189262, 71189280, 71189314-71189316, 71189331, 71189359, 71189417
244ITGB4170.999268604863784546973751790-73751793
245UNC13D170.998472349526435327373827374, 73827377, 73827380-73827382
246SEPT9170.92277115275412136176175494605-75494740
247LAMA3180.99880023995201121000221269658-21269662, 21269665, 21269673, 21269754-21269757, 21293884
248DSC3180.9925678186547820269128598666-28598685
249DSG2180.999106344950853335729078233-29078235
250LOXHD1180.97709463532248152663644126858-44127009
251MYO5B180.9920677843879644554747352944-47352980, 47364149-47364155
252SMAD4180.998794454490662165948593504, 48603095
253ATP8B1180.9957401490947816375655398954-55398969
254RAX180.999039385206531104156936558
255LMAN1180.994781474233538153357000414-57000420, 57000447
256CCBE1180.9967239967244122157134040, 57134046, 57134058-57134059
257TNFRSF11A180.9945975148568310185159992598-59992606, 59992609
258CTDP1180.9993069993072288677440008, 77440012
259ELANE190.86691542288557107804853262-853367, 853403
260KISS1R190.92564745196324891197918646, 918657-918658, 920314-920353, 920382, 920393-920395, 920400-920414, 920420, 920424-920427, 920580-920583, 920602, 920605, 920611, 920631, 920636, 920642-920645, 920723-920727, 920732-920735
261MAP2K2190.923524522028269212034123781-4123872
262TUBB4190.988014981273411613356495566-6495567, 6495576-6495581, 6495592-6495595, 6495602-6495605
263C3190.995192307692312449926707092, 6707100-6707104, 6707114-6707127, 6709722-6709725
264INSR190.994456495541092341497184495, 7293869-7293879, 7293883-7293893
265PNPLA6190.995481927710841839847605174-7605189, 7615914-7615915
266PRKCSH190.996219281663526158711558341-11558346
267CACNA1A190.98351283074059124752113318569, 13318670, 13318673-13318691, 13318702-13318705, 13318712, 13318779-13318813, 13318820-13318865, 13319692-13319697, 13409588-13409590, 13409605, 13414642-13414648
268NOTCH3190.9945449325294338696615281355-15281358, 15311619-15311621, 15311632, 15311635-15311641, 15311646-15311652, 15311660-15311666, 15311676-15311681, 15311696-15311698
269JAK3190.999111111111113337517940937-17940938, 17945483
270SLC5A5190.999482401656311193217984965
271COMP190.999560246262091227418900759
272CEBPA190.9396471680594265107733792757, 33792766, 33792985, 33792988, 33792999-33793001, 33793004-33793010, 33793013-33793015, 33793020, 33793143-33793145, 33793167, 33793171-33793180, 33793184, 33793187-33793217, 33793248
273SCN1B190.950433705080554080735521725-35521764
274WDR62190.999125109361334457236583671-36583674
275RYR1190.99794932857048311511738931386, 38931391-38931393, 38931448, 38985070, 38993169, 38993172, 39014562-39014564, 39037108, 39055749-39055755, 39055760, 39055764-39055770, 39055890, 39055895, 39055899, 39055908
276PRX190.9947560419516623438640901321-40901330, 40909681-40909685, 40909692-40909693, 40909699, 40909709, 40909753, 40909767-40909769
277TGFB1190.999147485080991117341858751
278ATP1A3190.999184339314853367842470836, 42470997, 42471019
279BCAM190.9947005829358810188745321861-45321862, 45324038-45324040, 45324075-45324079
280SIX5190.995495495495510222046270019, 46272023, 46272037-46272044
281DMPK190.9486772486772597189046285488-46285495, 46285502-46285555, 46285576-46285610
282DBP190.940695296523525897849138837-49138883, 49138892-49138893, 49138937, 49138940-49138943, 49138946, 49139009-49139010, 49139074
283MED25190.998663101604283224450333777, 50334130-50334131
284PNKP190.9923371647509612156650365640-50365651
285KCNC3190.8570800351803325227450823503-50823585, 50826278, 50826292, 50826438, 50831522-50831524, 50831528, 50831554, 50831583, 50831591-50831594, 50831638-50831640, 50831706-50831715, 50831739, 50831743, 50831750, 50831757-50831761, 50831878, 50831901, 50831942-50831966, 50831993-50831998, 50832006-50832011, 50832025-50832028, 50832141-50832145, 50832180-50832339
286NLRP12190.9952919020715615318654313662, 54313665, 54313855-54313860, 54313870-54313875, 54313884
287PRKCG190.9708691499522461209454393143, 54393146-54393148, 54393160, 54393163-54393169, 54393172, 54393191-54393192, 54393219-54393223, 54393231-54393271
288TSEN34190.9903536977492993354695337, 54697188-54697195
289NLRP7190.9922928709055924311455450724-55450740, 55451167-55451173
290TNNT1190.99746514575412278955652312, 55657813
291TNNI3190.98850574712644760955665492-55665498
292KLF1120.9896036387264516153910183860-10183865, 10183871-10183880
293APOB20.99780893952673301369221233076-21233077, 21255241-21255258, 21266775-21266783, 21266803
294POMC20.98880597014925980425384469-25384477
295HADHB20.9929824561403510142526477130-26477139
296OTOF20.9844844844844893599426697412-26697414, 26697417-26697418, 26699759-26699778, 26699788, 26699802-26699811, 26699822-26699830, 26699845-26699859, 26699872-26699904
297C2orf7120.998965606413244386729293895-29293898
298ALK20.999588731235862486329451757, 29451796
299SPAST20.91572123176661156185132289013-32289036, 32289083-32289102, 32289113, 32289126-32289129, 32289139-32289228, 32289232-32289242, 32289247-32289249, 32340806, 32340831, 32341208
300SOS120.999750124937531400239224501
301MSH220.99821746880575280547639652, 47641451-47641454
302MSH620.9769777124663294408348010420, 48010438-48010471, 48010525-48010539, 48010547-48010582, 48023122-48023129
303LHCGR20.998095238095244210048982784-48982787
304NRXN120.999548022598872442550765567-50765568
305EFEMP120.9905533063427814148256102083, 56102097, 56102180, 56102184, 56103835-56103842, 56144955-56144956
306FANCL20.993794326241137112858392918-58392924
307ATP6V1B120.998702983138782154271163132, 71163136
308ALMS120.99672104926424411250473613002-73613003, 73613008, 73613015-73613041, 73613050-73613052, 73827996-73828002, 73828342
309MOGS20.998806682577573251474689081-74689083
310GGCX20.996486605182268227785788523-85788530
311SFTPB20.997382198952883114685895264-85895266
312REEP120.983498349834981060686564605, 86564615-86564618, 86564629-86564633
313EIF2AK320.999104744852283335188926730-88926732
314RANBP220.917209302325588019675109347316-109347341, 109347874-109347894, 109351990-109352029, 109352701, 109357029-109357056, 109357069-109357116, 109365423-109365429, 109365544-109365573, 109367754, 109367831-109367847, 109368046-109368052, 109368074-109368110, 109368430-109368440, 109369543-109369561, 109369942-109369948, 109370369-109370401, 109371483-109371512, 109371632-109371662, 109371682-109371715, 109374869-109374872, 109374901-109374918, 109378633, 109382787-109382793, 109382840-109382846, 109382889-109382913, 109382937-109382946, 109383000-109383006, 109383032-109383058, 109383107-109383148, 109383204-109383210, 109383268-109383274, 109383295-109383321, 109383354-109383360, 109383672-109383708, 109383768-109383798, 109383822-109383828, 109383885-109383891, 109383980-109384013, 109384164-109384170, 109384466-109384472, 109384505-109384511, 109384561-109384567, 109384597-109384615, 109384628-109384634, 109399144-109399147, 109399157-109399159
315NPHP120.99410029498525122034110917774-110917785
316MERTK20.99366666666667193000112656315-112656317, 112656320-112656330, 112722768-112722770, 112786428, 112786441
317GLI220.99537912203319224761121746116, 121746168-121746174, 121746177-121746183, 121746219, 121746243-121746247, 121746252
318PROC20.99062049062049131386128180494, 128180509, 128180700-128180701, 128180705, 128180722-128180723, 128180726-128180731
319CFC120.997023809523812672131280380, 131280383
320LCT20.9998271092669415784136564742
321MCM620.9995944849959412466136627931
322MMADHC20.9854096520763213891150432225-150432233, 150432969-150432972
323NEB20.996345248823477319974152432726-152432731, 152432735, 152432739-152432745, 152432755-152432761, 152432769-152432772, 152432783-152432820, 152432864, 152515580-152515587, 152515595
324SCN2A20.99318710535061416018166167009-166167024, 166172086-166172098, 166221766, 166234112-166234117, 166237610-166237614
325GALNT320.99474237644585101902166611173, 166611176, 166611179-166611180, 166611191-166611194, 166621565-166621566
326SCN9A20.99460734748905325934167060963, 167060974, 167083122-167083137, 167083147-167083151, 167083198-167083206
327HOXD1320.9990310077519411032176957972
328AGPS20.95852301466869821977178346814-178346871, 178346880-178346899, 178362490-178362493
329TTN20.9996109648072839100248179466239-179466250, 179523794-179523802, 179542478, 179543206, 179633485-179633500
330COL3A120.99022949329698434401189849969-189849973, 189854149-189854157, 189856917, 189868756, 189868760-189868763, 189871663-189871681, 189871692-189871695
331PMS120.9985709181850742799190718770, 190718807-190718808, 190728731
332CASP820.98763141620284201617202149585, 202149617-202149635
333BMPR220.9993583573949323117203384863, 203384866
334ABCA1220.998972778633887788215809769, 215809816-215809819, 215809826-215809828
335SMARCAL120.9975567190226972865217347531-217347534, 217347542, 217347552, 217347565
336WNT10A20.9968102073365241254219745752-219745755
337OBSL120.9996485679142525691220435670, 220435781
338COL4A420.9998025276461315064227942774
339CHRND20.99742599742641554233390930-233390931, 233390934-233390935
340AGXT20.999151823579311179241808308
341D2HGDH20.99361430395913101566242689575-242689583, 242707237
342C20orf54200.97730496453901321410744354-744385
343AVP200.84848484848485754953063386-3063391, 3063398-3063404, 3063623-3063636, 3063647, 3063657, 3063660-3063664, 3063668-3063682, 3063716-3063720, 3063772, 3063775-3063782, 3063786, 3063790-3063793, 3063813-3063819
344PANK2200.98774080560422117133870227-3870228, 3870244-3870257, 3870263, 3870267-3870270
345C20orf7200.991329479768799103813782208, 13782211-13782218
346SNTA1200.9888010540184517151832031224, 32031382-32031391, 32031401-32031406
347HNF4A200.9922807017543911142543052772-43052782
348CTSA200.997995991983973149744520238-44520240
349SALL4200.999051233396583316250418882-50418884
350COL9A3200.99854014598543205561456372, 61461904-61461905
351SOX18200.68917748917749359115562680088, 62680512-62680869
352BACH1210.997286295793766221130715035-30715040
353IFNGR2210.9635108481262337101434775858-34775868, 34775871, 34775876, 34775887-34775894, 34775897-34775902, 34775906-34775909, 34775912-34775917
354RCAN1210.99868247694335175935987214
355RUNX1210.9986139986142144336164517, 36259354
356HLCS210.997707473635955218138309515-38309519
357CBS210.99577294685997165644492115-44492121
358AIRE210.9670329670329754163845712879, 45712884, 45712930-45712931, 45712942-45712945, 45712983-45712992, 45713013-45713035, 45713046-45713058
359ITGB2210.99826839826844231046308630, 46308659, 46308663, 46308721
360COL18A1210.9962013295346620526546875483-46875499, 46876562, 46927489, 46931080
361COL6A1210.9873663751214839308747401809-47401815, 47410172-47410189, 47410323-47410336
362COL6A2210.999346405228762306047531486-47531487
363PCNT210.99270802117671731001147754408-47754473, 47754494-47754500
364PEX26220.99782135076253291818561225-18561226
365PRODH220.995562950637838180318905842, 18923545-18923550, 18923565
366GP1BB220.948470209339773262119711651, 19711679, 19711682-19711692, 19711784-19711789, 19711809, 19711814-19711823, 19711831, 19711902
367TBX1220.87365591397849188148819748428-19748599, 19748666-19748669, 19753505, 19753510-19753512, 19753968, 19754240-19754242, 19754245-19754248
368CHEK2220.93469619534355115176129083906-29083917, 29083946-29083965, 29085135-29085171, 29091173-29091203, 29091737-29091743, 29091837-29091844
369NF2220.996085011185687178830074303-30074309
370LARGE220.997357992073986227133700336-33700338, 33700342-33700344
371MYH9220.999830018697941588336688090
372TRIOBP220.96759650605804230709838119846-38119862, 38119879-38119905, 38120006, 38120140-38120156, 38120172-38120199, 38120297-38120346, 38120417-38120453, 38120482-38120485, 38120542, 38120666-38120710, 38122448, 38165151-38165152
373PLA2G6220.9933911606774116242138531017-38531032
374EP300220.998895790200148724541533734-41533741
375TNFRSF13C220.927927927927934055542322247-42322262, 42322269-42322278, 42322293-42322296, 42322301-42322305, 42322316-42322320
376CYB5R3220.988962472406181090643045312-43045321
377MLC1220.9691358024691435113450502463-50502494, 50502593-50502595
378TYMP220.9730848861283639144950964248, 50964262-50964263, 50964451, 50964463-50964466, 50964486, 50964489, 50964492, 50964512-50964520, 50964546, 50964700, 50964808-50964824
379ARSA220.994750656167988152451063695, 51063811-51063817
380SHANK3220.83562166285278862524451113070-51113132, 51135957-51136143, 51158721-51159041, 51159076-51159077, 51159080, 51159083-51159085, 51159093-51159094, 51159097-51159101, 51159108, 51159150-51159161, 51159166-51159187, 51159324, 51169180-51169225, 51169300, 51169324-51169331, 51169432-51169448, 51169480-51169533, 51169549-51169584, 51169606-51169635, 51169659-51169667, 51169671-51169673, 51169683-51169687, 51169708-51169740
381FANCD230.9927536231884132441610088296-10088311, 10091150-10091156, 10114941-10114949
382RAF130.99948638931691194712650834
383CRTAP30.993366500829198120633155787, 33155883-33155889
384MLH130.999559665345661227137067184
385TMIE30.98089171974522947146751074-46751082
386COL7A130.999320882852296883548627056-48627057, 48627066-48627068, 48627076
387GNAT130.995251661918335105350229228-50229231, 50229239
388RFT130.997539975399754162653138089-53138090, 53156437, 53156486
389TKT30.99572649572658187253262341-53262348
390ATXN730.8985200845666288283863898275-63898403, 63898410-63898411, 63898420-63898424, 63898434-63898441, 63898449-63898591, 63898883
391GBE130.94215267899478122210981754625, 81754644-81754764
392PROS130.9827671097981335203193595964-93595993, 93596002-93596006
393ARL13B30.9984459984462128793762026, 93762084
394ARL630.98752228163993756197503811-97503817
395NPHP330.962183821687951513993132438549-132438674, 132441009, 132441037, 132441045-132441052, 132441056, 132441063-132441064, 132441067-132441068, 132441117-132441126
396FOXL230.95667550839965491131138664660-138664680, 138664707, 138664726, 138664793-138664794, 138664816, 138664819, 138664864-138664874, 138664878, 138664884-138664887, 138664890, 138665034, 138665045-138665046, 138665051-138665052
397PLOD230.9969257795344872277145804574-145804577, 145804632, 145804690, 145804695
398CLRN130.9799713876967114699150645916-150645929
399IFT8030.9961340206185692328160037688-160037695, 160075341
400SLC2A230.9993650793650811575170716883
401GHSR30.98910081743869121101172163088-172163099
402SOX230.994758909853255954181430206-181430208, 181430223, 181430228
403IDUA40.9989806320081521962981637, 997173
404FGFR340.99958796868562124271803645
405SH3BP240.99623047926764718572819973-2819979
406HTT40.9879096404708911494293076605-3076647, 3076650-3076666, 3076669-3076672, 3076684-3076702, 3076709-3076715, 3076728-3076744, 3076766-3076772
407DOK740.981518151815182815153465116, 3465241, 3465252-3465277
408MSX140.9967105263157939124861907, 4861968-4861969
409EVC40.99865726753944429795713180, 5713227, 5754653-5754654
410CNGA140.9894736842105324228047954609, 47954613-47954619, 47954669-47954683, 47972924
411SGCB40.99791013584117295752904402-52904403
412SLC4A440.999391171993912328572352665-72352666
413PKD240.9759201926384670290788928933-88928961, 88928977-88929017
414SNCA40.881796690307335042390743497-90743504, 90749294-90749335
415MANBA40.99280303030303192640103611767-103611779, 103611790-103611793, 103611801, 103611804
416CISD240.9215686274509832408103808498-103808522, 103808569-103808575
417ANK240.99941047667172711874114161651, 114161654, 114161657, 114161661-114161664
418BBS740.99487895716946112148122766675, 122775907, 122775916-122775918, 122775970-122775971, 122782809-122782812
419FGB40.9993224932249311476155484279
420CTSO40.995859213250524966156863570-156863573
421GLRB40.94846050870147771494158041708-158041741, 158041751-158041793
422GK40.9488567990373851662166199162-166199179, 166199345, 166199361, 166199426-166199469, 166199558-166199569, 166200028, 166200063, 166200504-166200510
423SDHA50.95238095238095951995224630-224636, 228378-228399, 233592-233598, 236673-236681, 251107-251114, 251143-251149, 251500-251506, 254526-254532, 254571-254577, 256469-256475, 256511-256517
424TERT50.979994115916456833991294611, 1294668-1294704, 1294718-1294735, 1295063-1295066, 1295075-1295082
425SDHA50.95718654434251143271593261-1593267, 1593352-1593358
426DNAH550.99618018018018531387513810318, 13841157-13841165, 13914651-13914664, 13916457-13916461, 13916516-13916517, 13916523-13916544
427AMACR50.998259355961712114934007929, 34007977
428NIPBL50.96470588235294297841537016169-37016172, 37016183, 37017126-37017128, 37024778-37024790, 37036481-37036589, 37044801-37044809, 37048604-37048742, 37048761-37048762, 37048772-37048773, 37064895-37064909
429LIFR50.980267152398365329438482691-38482692, 38482722, 38482728, 38482737-38482749, 38482752-38482769, 38506043, 38506046-38506053, 38506066-38506083, 38506085-38506087
430OXCT150.9443378119001987156341862744-41862786, 41862789-41862792, 41862798-41862823, 41862827-41862831, 41862842-41862850
431ERCC850.997481108312343119160186811, 60200642-60200643
432NDUFAF250.99607843137255251060448603-60448604
433SMN250.979661016949151888569362945-69362961, 69372353
434SMN250.980790960451981788570238369-70238385
435MCCC250.9923167848699813169270900277-70900289
436HEXB50.9880311190903720167173981094-73981113
437AP3B150.9914764079147628328577412011, 77471519, 77471616-77471619, 77521380, 77536760, 77563393-77563396, 77563404-77563419
438VCAN50.9998037484054621019182836218-82836219
439RASA150.95706106870229135314486669980-86669984, 86669999-86670005, 86670015-86670137
440MEF2C50.9880450070323517142288024374, 88024391-88024398, 88024405-88024411, 88024417
441GPR9850.99836160879446311892189914967-89914969, 89925143-89925149, 89941796-89941797, 89941842, 89971911-89971914, 90049542, 90049556, 90074337, 90101117-90101120, 90144505, 90144562-90144564, 90144595, 90144635, 90261251
442PCSK150.998673740053053226295764945-95764947
443WDR3650.99299719887955202856110432801, 110436324, 110436340-110436342, 110436352, 110436356-110436363, 110436374-110436377, 110436384-110436385
444APC50.9989451476793298532112111326-112111327, 112128143-112128144, 112128154, 112128157, 112128179, 112128183, 112128186
445HSD17B450.9968340117593872211118867066-118867072
446FBN250.99370637372697558739127645707-127645713, 127681229-127681248, 127702072-127702073, 127702079-127702103, 127702120
447TGFBI50.999512670565312052135364878
448MYOT50.98463593854375231497137221737-137221756, 137221798, 137221809, 137221858
449MATR350.9976415094339662544138658510-138658515
450NDUFA250.986666666666674300140027143-140027145, 140027148
451DIAPH150.99450117831893213819140953397-140953399, 140953425-140953426, 140953440, 140953519, 140953564-140953572, 140953575-140953576, 140953586, 140962831-140962832
452PPP2R2B50.98948948948949141332146077569-146077582
453GRM650.9791192103265552634178421742, 178421750, 178421764, 178421769-178421770, 178421863, 178421869-178421873, 178421893-178421919, 178421929-178421945
454SQSTM150.9984882842025721323179248005, 179248010
455FLT450.99389051808407254092180057747-180057751, 180076526-180076545
456FOXC160.978941034897713516621611659, 1611692, 1611698-1611704, 1611707-1611710, 1611713-1611724, 1612018-1612027
457TUBB2B60.963378176382664913383225438-3225478, 3225602-3225609
458GCM260.999342537804081152110874472
459ATXN160.9775326797385655244816327863-16327868, 16327876-16327896, 16327919-16327927, 16327930-16327943, 16327946-16327947, 16327953-16327955
460TNXB60.975116640746548192931977552, 31978782-31978815, 31979413-31979423, 31980000, 31980074
461CYP21A260.994623655913988148832006317, 32006337, 32007323-32007328
462TNXB60.9988215884987151272932010043-32010044, 32012267-32012274, 32018088, 32046810-32046813
463HLA-DQA160.73437520476832605271-32605274, 32609166-32609315, 32609949-32609977, 32609999-32610012, 32610492-32610498
464HLA-DQB160.6666666666666726278632629124-32629173, 32629190-32629213, 32629227, 32629844-32629908, 32629932-32629958, 32634279-32634358, 32634370-32634384
465COL11A260.9961619650738820521133137218-33137232, 33138123-33138124, 33138127, 33140356-33140357
466SYNGAP160.91666666666667336403233388042-33388108, 33393590, 33393594, 33393606-33393619, 33393631-33393635, 33393637-33393642, 33393645, 33393656-33393680, 33410906, 33410982-33410985, 33411488-33411698
467MOCS160.997383568812145191139874703-39874707
468RUNX260.9680715197956650156645390442, 45390445-45390449, 45390456-45390461, 45390464-45390466, 45390469, 45390472-45390480, 45390486-45390491, 45390504-45390510, 45390515-45390520, 45390523-45390528
469CD2AP60.9901041666666719192047549772-47549784, 47563646-47563649, 47563692, 47563706
470MUT60.9649356413670779225349409574-49409636, 49415388-49415400, 49416556-49416557, 49419278
471PKHD160.9921472392638961222551929753-51929848
472EYS60.98717541070482121943564940569-64940580, 65523326-65523357, 65523399-65523434, 65596626, 66005836-66005839, 66005848, 66005857, 66005885-66005900, 66005922-66005939
473LMBRD160.999383857054841162370410729
474RIMS160.999015554242965507972974743, 72974746, 72974749, 73108792-73108793
475LCA560.999522445081181209480196815
476BCKDHB60.994910941475836117980881025, 80881028, 80881066, 80881093-80881095
477SLC35A160.996055226824464101488210377-88210378, 88210876-88210877
478SEC6360.99299167761717162283108218919-108218934
479OSTM160.9990049751243811005108366006
480FIG460.998531571218842724110081478-110081481
481WISP360.9991063449508511119112386086
482ENPP160.98704103671706362778132129187, 132129193, 132171184, 132171187-132171190, 132203494-132203517, 132203568-132203572
483EYA460.9963541666666771920133769280, 133769283-133769287, 133769290
484PEX760.9166666666666781972137167222-137167293, 137167311-137167319
485EPM2A60.9839357429718916996146056484-146056492, 146056502, 146056514-146056519
486SYNE160.999166477229672226394152529277-152529279, 152545790-152545796, 152716679-152716682, 152737829-152737832, 152748859, 152774736-152774738
487PARK260.9656652360515481398161969945-161969992
488TBP60.92843137254902731020170871008-170871014, 170871025, 170871028, 170871031, 170871034, 170871037-170871091, 170871097-170871102, 170871107
489LFNG70.8096491228070221711402559496-2559554, 2559575-2559576, 2559580, 2559594-2559639, 2559650-2559680, 2559698-2559704, 2559718, 2559748, 2559759-2559784, 2559792-2559794, 2559799-2559813, 2559823-2559841, 2559876-2559881
490PMS270.970258787176527725896013045-6013052, 6013149-6013156, 6026905-6026918, 6026988, 6027002, 6045523-6045529, 6045563-6045600
491TWIST170.748768472906415360919156550, 19156793-19156944
492DNAH1170.99764220453876321357221630557-21630576, 21630580, 21630583-21630584, 21630616, 21847644-21847651
493HOXA1370.81319622964867218116727239312, 27239315-27239321, 27239324, 27239332-27239333, 27239362, 27239370-27239372, 27239388-27239590
494GARS70.9936936936936914222030673449-30673462
495RP970.9984984984985166633148935
496BBS970.9969969969978266433303913, 33303916, 33303923-33303928
497GLI370.999789162977021474342005678
498CCM270.9775280898876430133545039933-45039962
499GRB1070.998879551820732178550771604-50771605
500EGFR70.999449490778972363355087012-55087013
501SBDS70.99070385126162775366456158-66456164
502NCF170.89696969696978582572639957-72639989, 72640033-72640039, 72643704-72643710, 72644230-72644236, 72648669-72648699
503ELN70.9926436781609216217573442540-73442553, 73466286-73466287
504NCF170.9360613810741775117374188403-74188409, 74193642, 74193668, 74197385-74197391, 74197911-74197917, 74202349-74202379, 74202903-74202923
505CD3670.999295278365051141980285968
506HGF70.999542752629171218781340803
507AKAP970.99667349027636391172491609603-91609621, 91609640-91609647, 91714844, 91714911, 91714915-91714923, 91714938
508PEX170.999480789200422385292140297, 92157704
509COL1A270.9939039258717425410194030899, 94049713-94049728, 94049933-94049936, 94049947-94049950
510SLC25A1370.998030526834074203195751294-95751297
511TFR270.9995843724023312406100238652
512SLC26A570.9995525727069412235103017277
513SLC26A470.9982927870251842343107323657-107323659, 107323668
514IFRD170.9970501474926341356112102122, 112102134-112102136
515CFTR70.951384199864962164443117188713-117188753, 117188760-117188800, 117188838-117188853, 117234984-117235025, 117235030, 117235038-117235112
516AASS70.9978425026968762781121769543, 121769546, 121769586-121769589
517IMPDH170.9994444444444411800128049912
518FLNC70.9991440449987878178128498187-128498193
519ATP6V0A470.9889021006738282523138394378, 138394389, 138394393-138394399, 138394409-138394414, 138394425-138394431, 138394436-138394441
520BRAF70.99521946979574112301140453086, 140624404-140624411, 140624415, 140624423
521PRSS170.79301075268817154744142458411-142458440, 142459625-142459629, 142459664-142459682, 142459781-142459817, 142459863-142459878, 142460295, 142460313, 142460332-142460342, 142460366-142460397, 142460719-142460720
522CNTNAP270.9974974974975103996145813983-145813988, 145813994-145813997
523KCNH270.952298850574711663480150644694-150644700, 150644704-150644721, 150644727-150644731, 150644754-150644757, 150644780, 150645562, 150648903, 150671852-150671871, 150671880-150671883, 150671887-150671890, 150671906, 150671909, 150671913-150671916, 150671924, 150671927, 150671933-150671936, 150671941-150671945, 150671956-150672002, 150674965-150675001
524PRKAG270.9994152046783611710151269757
525SHH70.9956803455723561389155595596, 155595777-155595781
526MNX170.884742951907131391206156799288-156799291, 156802659-156802760, 156802779-156802783, 156802797-156802813, 156802844, 156802857, 156802899-156802907
527GATA480.9924755455229510132911565909-11565910, 11607662-11607664, 11607672-11607676
528ASAH180.999158249158251118817915131
529NEFL80.998774509803922163224813415-24813416
530FGFR180.9870077141697132246338275885-38275888, 38285910-38285937
531ADAM980.9951219512195112246038959389-38959395, 38959403, 38961216-38961219
532ANK180.999473129610123569441550362-41550364
533THAP180.99688473520249264242693202, 42693242
534CHD780.99966644429623899461655092, 61734592, 61749464
535TMEM6780.994645247657316298894768082-94768085, 94768094, 94777692-94777696, 94777852-94777854, 94777870-94777872
536GDF680.995614035087726136897157416-97157421
537VPS13B80.996664999166254011994100123392-100123393, 100123423-100123452, 100146872, 100160139-100160140, 100160143, 100514006, 100514011-100514012, 100514029
538KIAA019680.9997126436781613480126079844
539KCNQ380.98281786941581452619133492735-133492779
540TG80.9998796195979318307133882071
541CYP11B180.96097883597884591512143958288-143958294, 143958513-143958533, 143958572-143958602
542CYP11B280.95965608465608611512143993988-143993994, 143994026-143994032, 143994101-143994108, 143994768-143994785, 143996536-143996556
543PLEC80.9912486659551812314055144990455, 144994388-144994391, 144994394, 144995051-144995057, 144995512-144995517, 144995662, 144996242-144996260, 144996523-144996556, 144997837, 144997842, 144997885-144997891, 144997984-144997993, 144998911-144998937, 145003348, 145003353, 145003403, 145003406
544GPT80.99329309188464101491145730819, 145731268, 145732018-145732025
545RECQL480.99421009098428213627145738734-145738740, 145738749-145738753, 145738768, 145738772-145738773, 145738776-145738781
546KCNV290.987179487179492116382718338, 2718757, 2718760-2718767, 2718962, 2718982-2718989, 2718993-2718994
547GLIS390.99677765843179927934117853, 4117856-4117858, 4118057-4118061
548JAK290.983230361871145733995077468, 5077477-5077498, 5077503-5077530, 5077569, 5077574, 5077577-5077580
549TMC190.9807271134472244228375403371, 75403374, 75420371-75420412
550VPS13A90.97994750656168191952579820314, 79824399-79824401, 79824411-79824413, 79824417, 79840871, 79840874, 79842392, 79843061, 79843093, 79843107-79843112, 79843122-79843126, 79843152-79843180, 79891061, 79896783-79896786, 79896796-79896842, 79908362, 79908386-79908391, 79908400, 79910628, 79929027, 79929035, 79931189-79931190, 79932536-79932539, 79932542-79932547, 79932550, 79932557, 79932594-79932614, 79933447, 79933455-79933457, 79934491-79934500, 79952448, 79954775-79954782, 79996892-79996898, 79996905-79996911, 79996938, 79996965, 79996979
551PTCH190.999769797421731434498270643
552FOXE190.96345811051693411122100616697-100616737
553TGFBR190.96230158730159571512101867536-101867561, 101867571-101867577, 101900152-101900159, 101910007-101910022
554ABCA190.9998526377836716786107576468
555FKTN90.999278499278511386108380341
556DFNB3190.99082232011747252724117266936, 117266996-117267019
557NR5A190.999278499278511386127245174
558LMX1B90.98748882931189141119129376831-129376844
559STXBP190.9988962472406221812130374683, 130374689
560ENG90.9989883662114321977130588028, 130588036
561TOR1A90.9989989989991999132586199
562SETX90.99788399302962178034135139870-135139884, 135139887, 135202224
563CEL90.848965213562313432271135944521-135944528, 135944582-135944589, 135945985-135946018, 135946653, 135946658, 135946675-135946702, 135946708-135946969, 135946986
564SURF190.997785160575862903136223304, 136223307
565ADAMTS1390.98179271708683784284136293768-136293778, 136293790-136293853, 136293879-136293881
566COL5A190.98350552836687915517137534041-137534074, 137534082-137534137, 137726997
567LHX390.98759305210918151209139090796-139090797, 139090800-139090805, 139090854, 139090873, 139090893, 139094833-139094835, 139094847
568INPP5E90.97260981912145531935139326276-139326280, 139327011-139327037, 139333317-139333321, 139333329-139333340, 139333343-139333346
569NOTCH190.99569640062598337668139391820, 139440188-139440198, 139440208-139440228
570AGPAT290.9713261648745524837139581738-139581740, 139581744, 139581750, 139581754, 139581763-139581770, 139581776, 139581781-139581788, 139581791
571SLC34A390.98666666666667241800140128319-140128324, 140128329-140128330, 140128334-140128336, 140128351, 140128593-140128594, 140128604, 140128606, 140128610-140128617
572GPR143X0.99215686274511012759707664, 9709433-9709434, 9709438, 9709444-9709447, 9733695, 9733747
573OFD1X0.9960513326752212303913780490-13780501
574SMSX0.9663941871026337110121958949-21958967, 21958976-21958991, 21985337, 21985340
575ARXX0.88869153345175188168925031264-25031292, 25031381-25031385, 25031462-25031463, 25031466, 25031473, 25031529-25031574, 25031643-25031697, 25031712-25031715, 25031718-25031722, 25031768-25031769, 25031772-25031809
576GKX0.999398315282791166230725712
577DMDX0.999457406402661105831645945-31645946, 32383304, 32398750-32398751, 32404443
578RPGRX0.87684301821336426345938145317-38145375, 38145383-38145446, 38145453-38145755
579NYXX0.9834024896265624144641332929-41332935, 41333091-41333100, 41333156, 41333234, 41333299, 41333321, 41333463, 41333545, 41333927
580ZNF674X0.999427262313861174646360534
581RP2X0.999050332383671105346739175
582CFPX0.9914893617021312141047485727-47485735, 47488923, 47488981, 47489004
583ZNF81X0.997985901309164198647747409-47747412
584WASX0.9880715705765418150948547187-48547194, 48547204-48547210, 48547255-48547256, 48547261
585CACNA1FX0.999831479609031593449086935
586FGD1X0.9972279972288288654494249-54494254, 54497144-54497145
587ARX0.9714078899746779276366765157-66765205, 66766196, 66766362, 66766365-66766390, 66942766-66942767
588OPHN1X0.999584889995851240967412825
589DLG3X0.998370008149964245469665282-69665285
590MED12X0.9977043158861315653470338631-70338633, 70338655, 70338700-70338703, 70349619-70349621, 70360663-70360665, 70361106
591GJB1X0.99765258215962285270444392, 70444396
592TAF1X0.97289686730025154568270586165-70586263, 70586270-70586277, 70586296, 70586299, 70586313-70586344, 70602927-70602939
593SLC16A2X0.9777415852334441184273641368-73641407, 73641466
594ABCB7X0.996905393457127226274293538-74293543, 74293567
595ATP7AX0.999555851654452450377276522, 77276525
596BRWD3X0.9924200406729541540979952325, 79991557, 79991580-79991587, 80064940-80064970
597CHMX0.998470948012233196285282529, 85282543-85282544
598PCDH19X0.999697519661221330699663409
599COL4A5X0.999209173586445058107834419-107834422
600XIAPX0.9986613119143221494123025097, 123025106
601SLC9A6X0.9976258309591652106135104755-135104758, 135104842
602ZIC3X0.97364672364672371404136651105, 136651129-136651164
603SOX3X0.98956002982849141341139585949-139585951, 139586149, 139586493, 139586508, 139586511-139586513, 139586692-139586696
604FMR1X0.98525539757767281899147009840-147009867
605MTM1X0.98896247240618201812149807449-149807468
606SLC6A8X0.882599580712792241908152954047-152954249, 152958538-152958546, 152959470-152959472, 152959701, 152960206, 152960547-152960553
607ABCD1X0.936997319034851412238153008473-153008516, 153008675-153008678, 153008705-153008715, 153008785-153008791, 153008944-153008946, 153008981-153008987, 153009014-153009033, 153009111-153009155
608MECP2X0.95724782899132641497153296186-153296187, 153363061-153363122
609OPN1LWX0.94246575342466631095153416312-153416318, 153416343-153416365, 153418521-153418544, 153421912, 153421916, 153421966-153421972
610OPN1MWX0.97260273972603301095153448204, 153455651-153455668, 153458965, 153458971-153458972, 153458978, 153459096-153459102
611OPN1MWX0.97534246575342271095153485322, 153492769-153492786, 153496121, 153496214-153496220
612F8X0.99574829931973307056154157682-154157697, 154158016-154158029
VariantPhase/
Zygosity
Allele freqImpactEvaluationSummary / Info
3CASP10-V410Ihomozygous0.031Dominant
protective
Low clinical importance,
likely
Reported to have a protective effect on breast cancer. If the lifetime risk of breast cancer is 12%, women with this variant may have a lower risk of 8-9% (30% less than average).
3CASP10-L522Ihomozygous0.309Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5C3-P314Lhet unknown0.079Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.159 (benign), Testable gene in GeneTests with associated GeneReview
2.5C3-R102Ghet unknown0.053Complex/Other
pathogenic
Moderate clinical importance,
likely
This variant (also called C3F) is common in Europeans (10.2% allele frequency), and is associated with age-related macular degeneration. In the US, 1.5% of adults over 40 have the disease, but the incidence increases strongly with age (>15% in women over 80). Assuming an average lifetime risk of ~10%, heterozygous individuals have a ~13% risk and homozygous have ~20%.
2.5MUSK-S159Ghet unknown0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
2.5MUSK-V790Mhet unknownUnknown
pathogenic
Insufficiently evaluatedPrioritization score: 6
Polyphen 2: 0.984 (probably damaging), Testable gene in GeneTests with associated GeneReview
2.5TP53-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.
2ALAD-K59Nhet unknown0.060Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
2APOA5-S19Whet unknown0.039Unknown
pathogenic
Low clinical importance,
likely
This variant, also known as APOA5*3, is associated with higher plasma triglyceride concentrations but no significant correlation with coronary artery disease itself has been found.
2NEFL-S472ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
2SLCO1B1-N130Dhomozygous0.663Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
2SLCO1B1-V174Ahomozygous0.097Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
2ABCA4-D2177Nhet unknown0.008Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.004 (benign), Testable gene in GeneTests
2ABCA4-H423Rhet unknown0.232Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
2LIG4-T9Ihet unknown0.132Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.966 (probably damaging)
2LIG4-A3Vhet unknown0.023Dominant
protective
Low clinical importance,
uncertain
One report has associated this with a decreased risk of multiple myeloma.
2SEMA4A-R713Qhet unknown0.062Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.553 (possibly damaging), Testable gene in GeneTests
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.
2MTRR-S202Lhomozygous0.285Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.5KCNJ11-V337Ihomozygous0.761Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.5KCNJ11-K23Ehomozygous0.711Unknown
protective
Low clinical importance,
likely
This variant is associated with decreased risk of type 2 diabetes. It is unclear whether this variant has additive effects, or acts in a dominant or recessive manner. Assuming diabetes has a lifetime risk of 36%, we estimate a decreased risk of around 1-2% per copy of this variant.
1.25SP110-M523Thomozygous0.319Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.25SP110-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.
1.25SP110-G299Rhet unknown0.822Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.25SP110-W112Rhet unknown0.945Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.25RNASEL-D541Ehet unknown0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1.25RNASEL-R462Qhet unknown0.208Complex/Other
pathogenic
Low clinical importance,
uncertain
Associated with increased risk of prostate cancer in individuals who already have a family history of prostate cancer, but studies have been unable to replicate this finding in sporadic (non-familial) prostate cancer cases.
1.25LRP5-W211*het unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Nonsense mutation, Testable gene in GeneTests with associated GeneReview
1.25LRP5-A1330Vhet unknown0.120Complex/Other
pathogenic
Low clinical importance,
uncertain
In a study of a UK population this variant was associated with a small increased risk of osteoporosis and osteoporotic bone fractures, with each copy of the variant presumed to have an additive effect. A study in Chinese young men failed to find an association with peak bone density.
1B3GNT6-L316ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1B3GNT6-L335ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1BDNF-V148Mhomozygous0.208Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1C14orf104-D768GhomozygousUnknown
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
1MS4A14-I56ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1MS4A14-N177Yhomozygous0.543Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
1MS4A14-G584Rhomozygous0.513Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
1MTHFD1-K134Rhomozygous0.846Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1MTHFD1-R653Qhomozygous0.320Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign)
1TIRAP-S180Lhet unknown0.073Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1ANKK1-A239Thet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.852 (probably damaging)
1ANKK1-G318Rhet unknown0.165Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
1ANKK1-G442Rhomozygous0.541Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ANKK1-H490Rhet unknown0.210Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
1ANKK1-E713Khet unknown0.347Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
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
1ZFYVE19-R48Shifthomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZFYVE19-S376Ahomozygous0.814Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
1KRT10-H487YhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1KRT10-G126Shet unknown0.109Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1KRT10-I101Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1SEBOX-L207Shomozygous0.913Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SEBOX-W10ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KRT16-R41Chet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.928 (probably damaging), Testable gene in GeneTests with associated GeneReview
1MAPT-P202Lhomozygous0.108Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests with associated GeneReview
1MAPT-D285Nhomozygous0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview
1MAPT-V289Ahomozygous0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1MAPT-R370Whomozygous0.116Unknown
benign
Low clinical importance,
uncertain
Probably benign.
1MAPT-S447Phomozygous0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1MAPT-GT539AAhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TGIF1-P83Shifthet unknown0.139Complex/Other
pathogenic
Low clinical importance,
uncertain
Severe variants in this gene are associated with holoprosencephaly disorders when combined with loss-of-function variants in SHH. Haploinsufficiency was identified in some families with this condition. It is unclear how likely this variant is to occur in combination with an SHH variant, or what phenotypic effect the variant would have on its own.
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
1PIK3R6-L609ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ENO3-N71ShomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ENO3-V85AhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1CHRNA5-D398Nhet unknown0.158Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign)
1CILP-G1166Shet unknown0.766Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CILP-Q979Rhomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CILP-K575Ehomozygous0.974Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CILP-I395Thet unknown0.491Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1CILP-R95Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1NPRL3-L489Shifthomozygous0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF598-M637Thomozygous0.601Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF598-A608Thomozygous0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF598-S453Yhomozygous0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF598-G42ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF598-E25GhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1SPG7-T503Ahet unknown0.095Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
1SPG7-R688Qhet unknown0.072Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.203 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1GSPT1-V100AhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1GSPT1-G92ChomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
1RNF207-N573Shomozygous0.474Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1RNF207-G603Ahomozygous0.165Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign)
1HABP2-T50MhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ZNF167-N494ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ADD1-G460Whet unknown0.232Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.995 (probably damaging)
1ADD1-S617Chet unknown0.334Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ADH1B-H48Rhomozygous0.678Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1AX746903-T82ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1AK298931-E88QhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1AK298931-W38*homozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1AK298931-T4ShomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TTN-R30856Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-I23649Thet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-A19840PhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-R9852Hhet unknown0.198Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-G9378Rhet unknown0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-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
1HNMT-T105Ihet unknown0.112Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.821 (possibly damaging)
1HRNR-Q2781Hhomozygous0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-C1414Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-S799Thomozygous0.569Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-F669Shet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-D668Chet unknown0.057Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-R664Qhet unknown0.568Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-G492Ehet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1HRNR-G492Rhet unknown0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-H491Yhet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-G490Shet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1HRNR-E473Ghomozygous0.951Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-G427Dhet unknown0.357Unknown
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-R85Hhomozygous0.553Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.078 (benign)
1HRNR-M1ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PADI6-V343Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1F5-Q534Rhomozygous0.991Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1MYOC-R76Khomozygous0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
1CYP1B1-N453Shet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.837 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1CYP1B1-V432Lhomozygous0.547Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CHIT1-G102Shet unknown0.268Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.057 (benign), Testable gene in GeneTests
1PCSK1-S690Thomozygous0.218Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.061 (benign), Testable gene in GeneTests
1PCSK1-Q665Ehomozygous0.238Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1IL13-Q144Rhomozygous0.766Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1PLEKHA2-P389Shifthomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TOR1A-D216Hhet unknown0.089Unknown
protective
Low clinical importance,
likely
This SNP has been shown to be benign and play a protective role against Dystonia.
1INSR-A2GhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1CYP2C9-I359Lhet unknown0.016Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.048 (benign)
1CUBN-T3422Ihomozygous0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1CUBN-S2717Whomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1CUBN-C2162Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1CUBN-S1935Ghet unknown0.127Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1CUBN-P1559Shomozygous0.565Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1CUBN-P389Thomozygous0.513Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1CUBN-F253Shet unknown0.801Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1ATG9B-A765ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KCP-H313ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KCP-A16ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CUL7-Q813RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1BC040901-C89Whomozygous0.706Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1BC040901-P93Shomozygous0.548Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1BC040901-A106Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1EYS-R2326QhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1EYS-L852Phet unknown0.655Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1EYS-T120Mhet unknown0.165Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1AIM1-Q293Phet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1AIM1-C491Rhet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.091 (benign)
1AIM1-E1196Ahomozygous0.935Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.015 (benign)
1AIM1-C1395Yhet unknown0.243Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.958 (probably damaging)
1ABCB1-S893Ahet unknown0.625Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ABCB1-N21Dhet unknown0.044Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1FAM20C-I320ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1FAM20C-R558Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1FAM20C-N564Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1POMT1-D411Ehomozygous0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1NR_027052-R29HhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1NR_027052-T53ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NR_027052-Y63NhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
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
1SCARF2-DV772ELhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1SCARF2-E764ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SCARF2-P747ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SCARF2-A745ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SCARF2-P174ShomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1C19orf55-G398ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1HSH2D-S223Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1VSIG10L-Q860ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1VSIG10L-R592QhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1VSIG10L-M356IhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1VSIG10L-N3ThomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1DGKK-L1014ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KCNC3-D63GhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1DLL3-L142Qhomozygous0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.707 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1COL18A1-PGP1362DelhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1TCEAL6-Q175Shifthomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NUDT19-R142Qhomozygous0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
1KRTAP7-1-Y17ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1FAM58A-Q15ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
1FAM58A-G4ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.875NPC1-S1123Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.875NPC1-W1122Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.875NPC1-I858Vhet unknown0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.061 (benign), Testable gene in GeneTests with associated GeneReview
0.875NPC1-M642Ihomozygous0.863Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.875NPC1-H215Rhet unknown0.222Complex/Other
protective
Low clinical importance,
likely
This variant is associated with a reduced risk of obesity, with an additive effect of -0.084 BMI per allele (an average of 0.54 pounds less, per allele, in a 5'6" individual).
0.625SYNE1-F7302Vhomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625SYNE1-L5015Mhet unknown0.866Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625SYNE1-S4596Thet unknown0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625SYNE1-K4121Rhet unknown0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625SYNE1-E4060Dhet unknown0.539Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.625SYNE1-H2558Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.625BRCA2-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.
0.625BRCA2-V2466Ahomozygous0.954Dominant
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PEX2-C184Rhomozygous0.990Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC30A8-R325Whet unknown0.225Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SLC18A1-L392Vhet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5SLC18A1-I136Thet unknown0.788Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PCM1-M597Vhomozygous0.733Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5PCM1-R1251Hhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.5MCPH1-R171Shomozygous0.865Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D314Hhomozygous0.648Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D392Ghomozygous0.979Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-A761Vhomozygous0.504Unknown
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
0.5ALK-I1461Vhomozygous0.982Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, 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
0.5GGH-A31Thet unknown0.198Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5GGH-C6Rhet unknown0.088Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_027251-H75Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CNGB3-T298Phet unknown0.681Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview
0.5CNGB3-C234Whomozygous0.939Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLCO5A1-R375Qhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5SLCO5A1-L33Fhet unknown0.512Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5THADA-C1605Yhet unknown0.137Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.387 (possibly damaging)
0.5THADA-T1385Shet unknown0.180Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5THADA-T1187Ahet unknown0.149Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.384 (possibly damaging)
0.5CCM2-V53Ihet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview
0.5CCM2-V120Ihet unknown0.091Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5EGFR-R521Khet unknown0.259Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ELN-G422Shomozygous0.225Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RANBP2-S255Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RANBP2-I2803Vhet 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
0.5GLI2-A1156Shomozygous0.536Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GLI2-D1306Nhomozygous0.595Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NPHP1-P39Thet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.052 (benign), Testable gene in GeneTests with associated GeneReview
0.5EPDR1-A36Shifthet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5COL1A2-P549Ahomozygous0.907Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-S524SPhomozygous0.578Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-V671Ghomozygous0.857Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-N1786Dhet unknown0.008Unknown
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: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TRMT12-W28Rhet unknown0.615Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TRMT12-D195Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TRMT12-D195Ehet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0.5LRGUK-R433Chet unknown0.023Unknown
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: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RELN-V2092Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RELN-V1762Ihet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.813 (possibly damaging), Testable gene in GeneTests
0.5MBLAC1-S43Chet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.902 (probably damaging)
0.5BAIAP2L1-E216Khet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.906 (probably damaging)
0.5CYP3A7-R409Thomozygous0.669Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CYP3A43-Y25Shifthet unknown0.148Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5CYP3A43-P340Ahet unknown0.215Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.925 (probably damaging)
0.5PLEC-GS4647VThet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PLEC-T4044Mhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PLEC-R2969Hhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PLEC-S2791Phet unknown0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PLEC-A2194Vhet unknown0.210Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PLEC-H1459Rhet unknown0.512Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PLEC-R1386Qhet unknown0.276Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PLEC-V991Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PLEC-A641Vhet unknown0.210Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5C2orf71-S1225SShet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5C2orf71-L792Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EDARADD-M9Ihomozygous0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RBP3-R346Hhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5EPHX1-Y113Hhet unknown0.290Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging)
0.5EPHX1-H139Rhet unknown0.210Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5MTR-R52Qhet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview
0.5MTR-G90Ehet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MTR-G90Ehet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RYR2-Q2958Rhomozygous0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TPO-A373Shet unknown0.188Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5TPO-S398Thomozygous0.684Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging), Testable gene in GeneTests
0.5TPO-V847Ahet unknown0.674Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5COL5A1-G530Shet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL5A1-N951Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AK094914-K152Nhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AK094914-T33Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AK094914-C16Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AK094914-A13Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CHAT-D400Nhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.202 (possibly damaging), 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
0.5PCDH15-R934Qhet unknown0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PCDH15-N642Shet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PCDH15-S19Ahet unknown0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPATCH2-M474Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5COL17A1-M703Vhet unknown0.672Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-G428Shomozygous0.771Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-T210Mhet unknown0.557Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-M3868Vhet unknown0.131Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-E3411Ahet unknown0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-I2106Thet unknown0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-R1486Khomozygous0.646Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview
0.5ZFYVE27-V82Ihet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZFYVE27-G138Vhomozygous0.720Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DRD3-G9Shomozygous0.482Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
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
0.5CDH23-E2041Khet unknown0.344Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-R2355Qhet unknown0.349Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-P2377Lhet unknown0.338Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-F3122Lhet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ANXA11-L337Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ANXA11-R191Qhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5RGR-S245Fhet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ADAMTS13-R7Whet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ADAMTS13-Q448Ehet unknown0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ADAMTS13-P618Ahet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.5REXO4-T283Ahet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.957 (probably damaging)
0.5REXO4-R141Khet unknown0.097Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GCKR-L446Phet unknown0.673Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ROR2-V819Ihomozygous0.798Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ROR2-T245Ahomozygous0.619Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IPPK-L376Fhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.865 (probably damaging)
0.5TAF1L-M371Vhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5DOCK8-A22Vhet unknown0.291Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.009 (benign), Testable gene in GeneTests
0.5DOCK8-D63Nhet unknown0.079Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests
0.5DOCK8-P97Thet unknown0.512Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests
0.5DOCK8-A597Vhet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.96 (probably damaging), Testable gene in GeneTests
0.5SCRIB-H1217Phet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.949 (probably damaging)
0.5SCRIB-L984Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SCRIB-V674Ehomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SCRIB-A551Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SCRIB-P422Lhet unknown0.516Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.5GARS-P42Ahomozygous0.654Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RECQL4-S92Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FKTN-R203Qhomozygous0.177Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.166 (benign), Testable gene in GeneTests with associated GeneReview
0.5APOB-S4338Nhomozygous0.725Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5APOB-E4181Khet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5APOB-I2313Vhet unknown0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5APOB-Y1422Chomozygous0.994Unknown
benign
Low clinical importance,
uncertain
This position is almost certainly an error in the HG18 reference sequence.
0.5APOB-T98Ihet unknown0.149Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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
0.5TTF1-A885Vhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MATN3-R391Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.159 (benign), Testable gene in GeneTests with associated GeneReview
0.5CBR3-V244Mhomozygous0.398Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.014 (benign)
0.5TTC3-M840Thet unknown0.646Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TTC3-R924Hhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5TTC3-D1751Hhet unknown0.791Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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-M613Thet unknown0.487Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-R364Hhomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-V1540Lhomozygous0.714Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-E289Qhet unknown0.801Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZBTB26-S158Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CLDN20-G94Ehet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5DNAH11-E34Lhet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-V1023Ahet unknown0.193Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T1038Ahomozygous0.747Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-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
0.5DNAH11-T4177Ihomozygous0.359Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFI-T300Ahomozygous0.957Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNPO2-R147Delhomozygous0.273Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SYNPO2-G154Ahet unknown0.236Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.135 (benign)
0.5SYNPO2-T573Ahomozygous0.829Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SYNPO2-R1009Whet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.5DNAJB7-E41Ahet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.957 (probably damaging)
0.5XPC-Q939Khomozygous0.683Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
0.5AGPAT9-R386Khet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ABCG2-Q141Khet unknown0.131Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.548 (possibly damaging)
0.5TET2-P29Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5TET2-L1721Whet unknown0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.032 (benign)
0.5FAT1-S4542Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5FAT1-S4542Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5FAT1-K4059Nhomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT1-S3554Ahet unknown0.595Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT1-Q2933Phomozygous0.695Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT1-I2718Vhet unknown0.061Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT1-H1273Rhomozygous0.697Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT1-R1064Ghomozygous0.752Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT1-V862Lhomozygous0.671Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT1-F614Lhomozygous0.685Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT1-V482Ihomozygous0.297Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT1-S404Rhomozygous0.354Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAM83F-R436Ghet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.939 (probably damaging)
0.5GPR98-L1093Fhet unknown0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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: 3
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-A3217Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E3471Khet unknown0.834Unknown
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
0.5COL6A3-T3069Ihomozygous0.364Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-A3012Phomozygous0.843Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-M2927Thomozygous0.674Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMXL1-M1589Vhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.984 (probably damaging)
0.5AP3B1-V585Ehomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5CCNO-I219Shifthet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
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-T558Ahet unknown0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.791 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-G24Ehomozygous0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-H12Qhomozygous0.896Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TMEM43-K168Nhomozygous0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.064 (benign), Testable gene in GeneTests with associated GeneReview
0.5TMEM43-M179Thomozygous0.487Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCD2-G901Vhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FAM175A-D373Nhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.899 (probably damaging)
0.5FAM175A-A348Thet unknown0.375Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.16 (benign)
0.5UGT2B15-Y85Dhomozygous0.500Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5IDUA-H33Qhomozygous0.750Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.5IDUA-R105Qhet unknown0.147Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.023 (benign), Testable gene in GeneTests with associated GeneReview
0.5IDUA-A361Thet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IDUA-V454Ihet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5GBE1-I334Vhomozygous0.979Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HTT-Y2309Hhet unknown0.459Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HTT-V2786Ihet unknown0.193Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CPN2-V536Mhet unknown0.262Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.935 (probably damaging), Testable gene in GeneTests
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
0.5CPN2-A305Thet unknown0.359Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.5NR_015394-G45Whet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_015394-F74Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_015394-T113Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CASR-A986Shet unknown0.070Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5CASR-R990Ghet unknown0.199Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.939 (probably damaging), Testable gene in GeneTests
0.5CASR-E1011Qhomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CEP63-Q185Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5CEP63-S651Lhet unknown0.329Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.027 (benign)
0.5NDUFB5-T34Phet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5ATXN7-V862Mhomozygous0.485Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EVC-Y258Hhomozygous0.721Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5EVC-T449Khomozygous0.871Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EVC-R576Qhomozygous0.274Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.5KAL1-V534Ihomozygous0.543Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC30A9-M50Vhomozygous0.555Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5SLC30A9-P52Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5SLC30A9-T97Ahomozygous0.987Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CCBP2-V41Ahet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5N4BP2-S101Ihet unknown0.109Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.127 (benign)
0.5N4BP2-D611Nhomozygous0.817Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5N4BP2-E861Vhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5TLR6-S249Phomozygous0.855Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5WFS1-V333Ihomozygous0.889Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WFS1-R456Hhet unknown0.065Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5WFS1-R611Hhet unknown0.442Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5ABHD14A-R32Qhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5TLR1-S602Ihomozygous0.727Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TLR1-N248Shomozygous0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5ALDH7A1-K439Qhet unknown0.072Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.5PKHD1-Q4048Rhomozygous0.566Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-Q3899Rhomozygous0.546Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-L1870Vhomozygous0.905Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EFHC1-I619Lhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests
0.5DFNB59-R265Chet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.962 (probably damaging), Testable gene in GeneTests
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)
0.5COL3A1-H1353Qhomozygous0.990Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TULP1-K261Nhet unknown0.805Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TULP1-I259Thet unknown0.344Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TULP1-T67Rhomozygous0.877Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BC112980-K147Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5DNAH7-L3319Phomozygous0.914Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH7-I1020Thet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5DNAH7-R545Chet unknown0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.02 (benign)
0.5DNAH7-M380Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5ABCB11-V444Ahomozygous0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5MYO6-T845Ihet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC22A2-S270Ahomozygous0.876Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PRODH-R521Qhomozygous0.887Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRODH-W185Rhomozygous0.826Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRODH-P30Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRODH-P19Qhet unknown0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PMS2-K541Ehomozygous0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PMS2-D70Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WDR11-E988Khet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5HIVEP2-L1538Phomozygous0.972Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HIVEP2-Y1242Chet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5LCA5-G656Dhet unknown0.377Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LCA5-D26Ahet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), 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
0.5SCN9A-W1150Rhet unknown0.896Dominant
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN9A-R1110Qhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BCLAF1-S209Chet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.96 (probably damaging)
0.5BCLAF1-G66Ahet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALS2-V368Mhomozygous0.869Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NOTCH4-G835Vhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5COL4A3-G43Rhet unknown0.239Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-L141Phomozygous0.760Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-E162Ghomozygous0.764Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-D326Yhet unknown0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-R408Hhet unknown0.064Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-H451Rhet unknown0.090Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-S1147Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KIF4B-R580Lhet unknown0.685Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIF4B-R680Hhet unknown0.176Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5KIF4B-V755Ihet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.877 (probably damaging)
0.5KIF4B-I834Shifthet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5KIF4B-K851Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5KIF4B-R1029Hhet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.043 (benign)
0.5NIPAL4-S453Lhet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5SLC26A2-I574Thomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADRB2-E27Qhet unknown0.773Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5ISX-S28Ghomozygous0.810Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ISX-P57Shet unknown0.791Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5ISX-R83Qhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5ISX-T182Mhet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5DMD-R2937Qhomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMD-Q2574Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMD-R1745Hhet unknown0.387Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DMD-D882Ghet unknown0.727Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMD-T630Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMD-I585Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AX746964-G175Shifthet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SOX30-C55Rhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5MSX2-M129Thomozygous0.716Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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-E1365Dhet unknown0.723Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-R723Khomozygous0.770Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCA12-S777Thomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-G3212Vhet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-R1414Qhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-L-H17Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HLA-L-I30Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HLA-L-R38Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5HLA-L-A142Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HLA-L-W144*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5HLA-L-C172Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
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-P226Lhet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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
0.5PROP1-N20Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEFH-P562Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NEFH-P615Lhet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5NEFH-A672Ehet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.889 (probably damaging)
0.5NEFH-E805Ahet unknown0.110Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BTN2A2-A4Vhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5BTN2A2-P39Ahet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5BTN2A2-S432Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5BTN2A2-K513Thet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AVPI1-A41Ghet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AVPI1-L36Rhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.924 (probably damaging)
0.5PTPN22-W620Rhet unknown0.970Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CD19-L174Vhomozygous0.876Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CD2BP2-T88Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5SALL1-V1275Ihomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SH2B1-T484Ahet unknown0.217Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5LRP8-R952Qhet unknown0.130Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5LRP8-D46Ehomozygous0.621Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DKC1-K505Delhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LEPR-K656Nhet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.454 (possibly damaging), Testable gene in GeneTests
0.5ABCC6-M848Vhomozygous0.954Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-R265Ghet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RBL2-Y210Chet unknown0.085Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.125 (benign)
0.5RBL2-E575Qhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5RPGRIP1L-R744Qhet unknown0.071Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5LRRC50-D387Ehet unknown0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.951 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5CYBA-V174Ahet unknown0.417Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CYBA-Y72Hhet unknown0.649Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ANKRD11-P2263Shet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.979 (probably damaging)
0.5ANKRD11-A2023Phet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ANKRD11-S1161*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5ANKRD11-A971Vhet unknown0.551Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TOE1-V36Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TOE1-R341Hhet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5GCSH-S21Lhomozygous0.750Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CPT2-V368Ihet unknown0.477Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CPT2-M647Vhet unknown0.093Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5NQO1-P187Shet unknown0.283Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.215 (possibly damaging)
0.5SPATA6-E228Khet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5DPYD-I543Vhet unknown0.199Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5VASN-R161Qhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.862 (probably damaging)
0.5VASN-E384Ahet unknown0.687Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.172 (benign)
0.5ARMS2-A69Shet unknown0.294Unknown
pharmacogenetic
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
0.5NR2E3-T318Shifthomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.5STRC-Q84Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MGA-T716Shomozygous0.780Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MGA-C1270Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
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-I339Vhet unknown0.664Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CHIA-F354Shet unknown0.408Unknown
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-V432Ghet unknown0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NM_001080841-R42Chet unknown0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NM_001080841-R85Chet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NM_001080841-R102*het unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5ACPT-P95Lhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5KIAA1324-H55Yhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5KIAA1324-I86Vhomozygous0.988Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIAA1324-T623Phet unknown0.686Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIAA1324-L1009Phomozygous0.878Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HEXA-I436Vhomozygous0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HEXA-N196Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BCAM-R77Hhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests
0.5BCAM-V196Ihet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5BCAM-T539Ahet unknown0.261Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5EME2-Q387*het unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
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: 1
Polyphen 2: Unknown
0.5DBT-S384Ghomozygous0.869Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCI-A86Vhet unknown0.219Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCI-C742Shet unknown0.234Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCI-I877Lhet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LOXL1-G153Dhet unknown0.269Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.135 (benign)
0.5DHDH-S66Nhet unknown0.545Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DHDH-A173Shifthet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5DHDH-V247Ahomozygous0.473Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DHDH-E294Shifthet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
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
0.5AGBL1-R112Chet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.928 (probably damaging)
0.5AGBL1-S435Phet unknown0.116Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.354 (possibly damaging)
0.5AGBL1-Q1010Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRX-G1132Rhomozygous0.978Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-P850Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-A244Vhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.036 (benign), Testable gene in GeneTests with associated GeneReview
0.5TMEM54-L110Fhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.926 (probably damaging)
0.5LAMA3-S2834Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MTHFR-E429Ahet unknown0.243Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.099 (benign), Testable gene in GeneTests
0.5ATP8B1-A1152Thomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AATK-F1266Shet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
0.5AATK-G703Chet unknown0.307Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.044 (benign)
0.5AATK-G486Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AATK-G484Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5GAA-H199Rhomozygous0.574Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GAA-R223Hhomozygous0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GAA-V780Ihomozygous0.720Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CROCC-R7Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CROCC-A439Vhet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5CROCC-P493Lhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5CROCC-P511Shet unknown0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.94 (probably damaging)
0.5CROCC-V1110Mhet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.18 (benign)
0.5CROCC-R1124Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CROCC-T1361Ahet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CROCC-G1471Rhet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CROCC-S1744Ghet unknown0.199Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CLCNKA-R83Ghomozygous0.653Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKA-Y315Fhet unknown0.222Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKA-A447Thomozygous0.688Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKA-T454Ahet unknown0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKA-V457Ihet unknown0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKA-R534Whet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RNF157-G208Rhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.859 (probably damaging)
0.5CD226-S307Ghet unknown0.423Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CTDP1-S61Ahet unknownUnknown
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
0.5ADAMTS10-T134Shomozygous0.910Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5TYK2-V362Fhomozygous0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5QTRT1-S129Fhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.983 (probably damaging)
0.5MASP2-D371Yhomozygous0.512Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MASP2-D120Ghet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RNASEH2A-L202Shet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DOT1L-G1386Shet unknown0.384Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DOT1L-V1418Lhet unknown0.266Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DOT1L-G1443Chet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
0.5VMAC-R109Hhet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5NOTCH3-A2223Vhomozygous0.553Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.5DNAI2-A558Thomozygous0.674Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LSR-R519RRhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LSR-E645Qhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.877 (probably damaging)
0.5CCDC55-K86Thet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.932 (probably damaging)
0.5GPR179-K1150Ehet unknown0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GPR179-R884Whet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5HSPG2-G2950Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-I2038Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-A1503Vhomozygous0.777Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-N765Shomozygous0.896Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-M638Vhomozygous0.978Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DNAH2-T3600Ihomozygous0.622Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH2-P4325Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5NLRP1-M1184Vhomozygous0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NLRP1-V1059Mhomozygous0.165Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.5NLRP1-L155Hhomozygous0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.064 (benign)
0.5SYTL1-G365Dhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5SYTL1-Q444Rhomozygous0.440Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SEPN1-C108Yhet unknown0.789Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SEPN1-N467Khet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDA-K27Qhomozygous0.190Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ALDH4A1-P16Lhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CPAMD8-T1315Ihet unknown0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CPAMD8-P783Hhomozygous0.255Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CPAMD8-H593Rhet unknown0.639Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CPAMD8-D586Ehet unknown0.380Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CPAMD8-V369Mhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CPAMD8-V355Ihet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CPAMD8-R341Qhet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.814 (possibly damaging)
0.5CPAMD8-R341Whet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5CPAMD8-M312Thomozygous0.733Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ATP13A2-V467Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5SCN4A-S906Thet unknown0.008Unknown
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: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC3-R1297Hhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5COL1A1-T1075Ahomozygous0.961Unknown
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
0.5BRCA1-S1634Ghet unknown0.292Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BRCA1-K1183Rhet unknown0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BRCA1-E1038Ghet unknown0.265Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5BRCA1-P871Lhet unknown0.555Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BRCA1-D693Nhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.5ADAM11-L93Shet unknown0.615Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ADAM11-R141*het unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5ADAM11-A226Thet unknown0.610Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ADAM11-P255Shet unknown0.619Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GNGT2-Q17Rhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5SLC28A2-P22Lhomozygous0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC28A2-S75Rhomozygous0.253Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5KRT4-G160GAGGFGAGFGTGGFGhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DCP1B-N195Dhet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.859 (probably damaging)
0.5GALNT8-Y53Dhet unknown0.422Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GALNT8-G245Ehet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5GALNT8-E267Ghet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.049 (benign)
0.5GALNT8-V515Fhet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.131 (benign)
0.5CLECL1-S52Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5WNK1-T665Ihet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-T1056Phomozygous0.838Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-C1506Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-M1808Ihet unknown0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LAMC2-M1Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LAMC2-T124Mhet unknown0.076Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5C20orf54-I303Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5C20orf54-P267Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DPAGT1-I393Vhomozygous0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DEFB126-P106Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5RAB40A-H45Lhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.907 (probably damaging)
0.5SLCO1B3-S112Ahomozygous0.646Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SLCO1B3-M233Ihomozygous0.659Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.131 (benign)
0.5SLCO1B3-G256Ahet unknown0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
0.5HTR2C-C23Shet unknown0.191Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign)
0.5DDR2-M441Ihet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT74-T503Ahet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5KRT74-E271Dhomozygous0.792Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.017 (benign)
0.5KRT74-D225Vhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5KRT74-L178Qhet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KRT83-H493Yhet unknown0.791Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT83-I279Mhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT83-R149Chet unknown0.141Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MLL2-P813Lhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests
0.5LRRK2-R50Hhomozygous0.927Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-M2397Thet unknown0.526Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
0.5AMPD1-K287Ihet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests
0.5PANK2-G126Ahomozygous0.917Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATM-N1983Shomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH1C-E819Dhomozygous0.408Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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-F124Shet unknown0.803Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-A162Ghomozygous0.997Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-K457Nhet unknown0.065Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.051 (benign), Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-D463Nhet unknown0.177Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.122 (benign), Testable gene in GeneTests with associated GeneReview
0.5OGFR-D40Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5OGFR-R250Qhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5OGFR-S519Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.495 (possibly damaging)
0.5OGFR-G658Rhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.824 (possibly damaging)
0.5ABCC8-A1369Shomozygous0.755Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CR1L-R97Chet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.933 (probably damaging)
0.5CR1L-R116Ghet unknown0.530Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CR1L-I139Vhet unknown0.146Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.089 (benign)
0.5CR1L-C207Yhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5CR1L-G263Vhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CR1L-I455Vhet unknown0.653Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CR1L-L491Phet unknown0.333Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.065 (benign)
0.5CUZD1-I285Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.984 (probably damaging)
0.5H19-G355Rhomozygous0.359Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5H19-V94Ihomozygous0.361Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5H19-W38Rhomozygous0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SBF2-Q1216Ehet unknown0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.03 (benign), 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
0.5PDHX-V326Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.576 (possibly damaging), Testable gene in GeneTests
0.5ALX4-P102Shomozygous0.217Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALX4-R35Thomozygous0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5SPTBN2-R1880Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPTBN2-L1188Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPTBN2-V1034Ahet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.5SPTBN2-S825Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
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: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYO7A-L16Shet unknown0.550Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYO7A-S1666Chomozygous0.610Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MAP3K11-R730Hhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.91 (probably damaging)
0.5CACNA1S-R1539Chet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PEX16-V116Ihomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WFDC3-R63Lhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5WFDC3-H36Dhomozygous0.670Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.207 (possibly damaging)
0.5MEN1-T546Ahomozygous0.791Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP7A-E1350Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL2A1-V1331Ihet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL2A1-T9Shomozygous0.598Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HTR2A-H452Yhet unknown0.098Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.489 (possibly damaging)
0.5ZNF528-G443Ahet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.969 (probably damaging)
0.5COL4A1-T555Phomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A1-V7Lhet unknown0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DOCK9-A435Vhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5DOCK9-R18Whet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5DIAPH3-P588Lhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5SUCLA2-S199Thomozygous0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OPN1LW-T65Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OPN1LW-L153Mhet unknown0.182Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OPN1LW-I230Thet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5OPN1LW-A233Shet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OPN1LW-M236Vhet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5RDH12-R161Qhet unknown0.076Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.941 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5SYNE2-M1969Thomozygous0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests
0.5SYNE2-A2284Vhomozygous0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-S2359Nhomozygous0.676Unknown
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-S2802Ghomozygous0.864Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.5SYNE2-I2942Vhomozygous0.622Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-D3253Hhomozygous0.684Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests
0.5FLG-E2652Dhomozygous0.304Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.406 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5FLG-E2074Qhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-R971Hhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-T581Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5ZNF880-V12Mhet unknown0.132Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF880-N106Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZNF880-N140NNhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZNF880-Y150Chet unknown0.173Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
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-K471Rhet unknown0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TEP1-S1195Phomozygous0.703Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-R1055Chomozygous0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-N307Khet unknown0.369Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-S116Phet unknown0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR_028064-G139Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NR_028064-H49Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ADPRHL1-T163Ihet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5CCDC63-Y303Fhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5ADAMTSL4-A193Phet unknown0.625Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ADAMTSL4-S268Fhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging)
0.5PGLYRP3-G126Shet unknown0.475Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.997 (probably damaging)
0.5PGLYRP3-R68Qhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5SEC22B-L39Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
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
0.5B3GALTL-E370Khomozygous0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.5SPATA7-V74Mhomozygous0.412Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZBTB7B-P190Shet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.932 (probably damaging)
0.5MLH3-N826Dhomozygous0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DDX55-V101Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.939 (probably damaging)
0.5DDX55-N264Shet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GALC-T641Ahomozygous0.892Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GALC-I562Thet unknown0.446Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.167 (benign), Testable gene in GeneTests with associated GeneReview
0.5GALC-R184Chet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.746 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.375COL9A3-R103Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375COL9A3-A435Ehet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.568 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.375FUT6-R303Ghet unknown0.107Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.725 (possibly damaging)
0.375FUT6-P124Shomozygous0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.614 (possibly damaging)
0.375SACS-V3369Ahet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.769 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.375SACS-A2510Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375OTOF-V575Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375OTOF-R82Chet unknown0.229Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.375CPS1-G150Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375CPS1-T344Ahet unknown0.583Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.375CPS1-T1406Nhet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375NAT2-I114Thet unknown0.220Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.375NAT2-R268Khet unknown0.675Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NOTCH2-P210Lhet unknown0.333Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SCN1A-A1056Thet unknown0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TLR5-D846Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25TLR5-F822Lhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TLR5-I644Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25TLR5-F616Lhet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.011 (benign)
0.25TLR5-N592Shet unknown0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.25TLR5-L487Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CCDC148-K516Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CCDC148-K329Rhomozygous0.969Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FAM104B-Q80*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25FAM104B-D75Nhet unknown0.171Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FAM104B-P63Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25FAM104B-AS60EDhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25FAM104B-I54Lhet unknown0.525Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH14-T43Shet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25DNAH14-F405Lhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25DNAH14-L828Vhomozygous0.710Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH14-K1010Rhomozygous0.617Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH14-R1011Qhomozygous0.674Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH14-N1099Yhet unknown0.677Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH14-M1110Ihomozygous0.663Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH14-K1925Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25DNAH14-N2435Shet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25DNAH14-N3969Khomozygous0.346Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH14-L4096Phomozygous0.544Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH14-F4244Chomozygous0.513Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NEB-I6534Vhet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NEB-A6277Phet unknown0.691Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NEB-R4389Thet unknown0.724Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NEB-S2912Phet unknown0.526Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NEB-K2613Nhet unknown0.138Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NEB-H1991Yhet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NEB-V1491Mhet unknown0.453Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NEB-V1479Ihet unknown0.422Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NEB-Y1301Hhet unknown0.668Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NEB-K1027Nhet unknown0.476Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SULT1C4-D5Ehet unknown0.371Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CCDC66-D5Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CCDC66-Q383Rhomozygous0.934Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CCDC66-R460Qhet unknown0.206Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.25CCDC66-S606SShet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CCDC66-E835Vhet unknown0.076Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.063 (benign)
0.25CCDC66-L836Shet unknown0.076Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25CFH-V62Ihet unknown0.495Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CFH-H402Yhet unknown0.818Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MYRIP-M65Shet unknown0.109Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MYRIP-R66Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SLC16A2-S107Phet unknown0.444Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KCNQ4-H455Qhet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.191 (benign), Testable gene in GeneTests with associated GeneReview
0.25SELP-V640Lhet unknown0.295Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.25SELP-D603Nhet unknown0.780Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25XDH-I1179Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25XDH-G172Rhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.004 (benign), Testable gene in GeneTests
0.25KCNE4-G27Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KCNE4-D145Ehet unknown0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25LMNA-L15Phet unknown0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LMNA-M174Thet unknown0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-P1004Lhet unknown0.528Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-P482Shet unknown0.493Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25C2orf83-W141*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25C2orf83-E104QhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25WDR12-M227Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25WDR12-I75Vhet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25LRP2-D4242Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25LRP2-I4210Lhomozygous0.462Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
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: 0
Polyphen 2: Unknown
0.25LRP2-N83Shet unknown0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
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: 2
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
0.25MLH1-I219Vhet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), 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
0.25F8-D1260Ehet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATG16L1-T300Ahet unknown0.347Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.25ABCG8-Y54Chet unknown0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.01 (benign), Testable gene in GeneTests
0.25ABCG8-P74Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ABCG8-V632Ahet unknown0.908Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
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
0.25MGAM-N858Dhomozygous0.978Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MGAM-K1099Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25DBH-A211Thet unknown0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DBH-A318Shet unknown0.104Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25KRT6B-I365Vhet unknown1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), 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
0.25VWF-H484Rhet unknown0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.83 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25VWF-V471Ihet unknown0.109Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SNX19-L878Rhet unknown0.808Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SNX19-N753Shet unknown0.617Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SNX19-L618Fhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SNX19-R362Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SNX19-V361Lhet unknown0.671Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KRT5-D197Ehet unknown0.276Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.25MMAB-M239Khet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PYGL-V222Ihet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.336 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25RPGRIP1-K192Ehet unknown0.446Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RPGRIP1-A547Shet unknown0.164Complex/Other
benign
Low clinical importance,
uncertain
Probably benign. Implicated in causing autosomal recessive cone-rod dystrophy, but a later report found the same incidence in controls and concludes it is not causal.
0.25RPGRIP1-E1033Qhet unknown0.256Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP7B-V1140Ahet unknown0.495Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP7B-R952Khet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP7B-K832Rhet unknown0.455Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.461 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25ATP7B-V456Lhet unknown0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.25ATP7B-S406Ahet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25ACADS-G209Shet unknown0.128Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests
0.25CPB2-I347Thet unknown0.814Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CPB2-A169Thet unknown0.345Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CPB2-I147Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ROBO3-G192Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ROBO3-V423Mhet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.25ROBO3-P868Lhet unknown0.286Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.074 (benign), Testable gene in GeneTests
0.25CASP5-L347Vhet unknown0.622Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CASP5-T119Ahomozygous0.422Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CASP5-R23Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25BMPR1A-P2Thet unknown0.549Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ERCC6-Q1413Rhet unknown0.145Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.25ERCC6-R1213Ghet unknown0.159Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25ERCC6-M1097Vhet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ANKRD30A-E110*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ANKRD30A-P319Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ANKRD30A-T590Ihet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ANKRD30A-Q621Ehet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ANKRD30A-T768Ahet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ANKRD30A-E782Ghet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ANKRD30A-D785Vhet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ANKRD30A-N786Khet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ANKRD30A-F789Lhet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25KCNE1-S38Ghet unknown0.710Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25IQCB1-C434Yhet unknown0.198Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.25CALHM1-L86Phet unknown1.000Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25KCNQ2-N780Thet unknown0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25THBD-A473Vhet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GTSF1L-A41Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25GTSF1L-N33Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25POLA2-G583Rhet unknown0.118Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.024 (benign)
0.25USP47-L24Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25USP47-G75Vhet unknown0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC22A20-E80Khet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.046 (benign)
0.25SLC22A20-M144Ihet unknown0.368Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.25SLC22A20-W169*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25SLC22A20-L236Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLC22A20-E300Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLC22A20-T380IhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLC22A20-E453Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLC22A20-V504FhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SIX6-H141Nhet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.25ZFYVE26-A2268Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ZFYVE26-N1891Shomozygous0.900Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25RAI1-G90Ahet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RAI1-P165Thet unknown0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25NPHS1-E117Khet unknown0.297Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.25CHRNB1-E32Ghet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.288 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25CTNS-T260Ihet unknown0.825Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KRT14-A94Thet unknown0.269Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KRT14-C63Yhet unknown0.976Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25UQCRFS1-*275Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25UQCRFS1-P255Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25UQCRFS1-S6Ahomozygous0.935Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25STXBP2-I526Vhet unknown0.725Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.25ITGB4-L1779Phet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25IL12RB1-G378Rhet unknown0.329Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25IL12RB1-M365Thet unknown0.297Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25IL12RB1-R283Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25IL12RB1-Q214Rhet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25BRIP1-S919Phet unknown0.652Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FANCA-G809Dhet unknown0.671Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FANCA-G501Shet unknown0.654Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FANCA-T266Ahet unknown0.708Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25PKD1L2-M2313Ihomozygous0.883Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-S2207Rhomozygous0.985Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-S2137Fhomozygous0.870Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-L2117Ihet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Y2079Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PKD1L2-A2054Thet unknown0.185Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Y2048Shet unknown0.169Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Q2035Rhet unknown0.210Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-M1866Vhomozygous0.957Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-A1739Vhet unknown0.141Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Y1699Chet unknown0.198Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-M1645Vhet unknown0.195Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-D1632Ghet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Q1616Rhet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-V1505Mhet unknown0.212Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-I1331Vhomozygous0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-N1330Dhomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-S1326Phet unknown0.734Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-T1048Ahomozygous0.679Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-M1042Vhet unknown0.461Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-R1040*het unknown0.407Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.25PKD1L2-L1036Phet unknown0.407Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Q999Hhet unknown0.266Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-R998Chet unknown0.262Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-A863Vhet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-G785Chet unknown0.193Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-L711Phet unknown0.805Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-R636Hhet unknown0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-P512Lhet unknown0.751Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-K416Qhet unknown0.788Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-P301Ahet unknown0.524Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-R252Whet unknown0.560Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-N236Shifthet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25PKD1L2-E221Ghet unknown0.708Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-V183Ihet unknown0.212Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC28A1-L140LVhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLC28A1-D521Nhet unknown0.226Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MYO9A-S1971Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MYO9A-Y1422Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MYO9A-S1362Phet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MYO9A-G1193Ehomozygous0.866Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ATXN3-V212Mhet unknown0.358Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PTPN21-R1088*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25PTPN21-V936Ahomozygous0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PTPN21-L385Fhomozygous0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25C14orf102-N1118Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C14orf102-S486Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SIX5-V693Mhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.086 (benign), Testable gene in GeneTests with associated GeneReview
0.25SIX5-P635Shet unknown0.533Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25SIX5-L556Vhet unknown0.833Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LITAF-I92Vhet unknown0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DHODH-K7Qhet unknown0.560Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.004 (benign)
0.25GPR56-S281Rhet unknown0.750Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ITPRIPL2-L437Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ITPRIPL2-P522Shet unknown0.064Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.716 (possibly damaging)
0.25CYP2B6-Q172Hhet unknown0.295Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.009 (benign)
0.25CYP2B6-K262Rhet unknown0.298Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MYH11-A1241Thet unknown0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PTF1A-S263Phet unknown0.654Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests
0.25HPS4-Q620Hhet unknown0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25HPS4-H601Yhet unknown0.807Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HPS4-V547Mhet unknown0.780Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HPS4-E224Ghet unknown0.779Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FLT4-H890Qhet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.714 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25ATP10B-S575Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ATP10B-C217Rhomozygous0.877Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TCOF1-P1139Rhet unknown0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, 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
0.25SRA1-V110RLhet unknown0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MICA-A47Thet unknown0.063Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-Y59Chet unknown0.293Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-E148Khet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MICA-V152Mhet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-E196Khet unknown0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-S229Ghet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-R233Whet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MICA-I236Thet unknown0.570Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-R274Qhet unknown0.538Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MICA-G318Shifthet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25HSPA1L-T493Mhet unknown0.868Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign)
0.25ABO-V276Mhomozygous0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ABO-F215Ihomozygous0.338Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ABO-W180*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25KIF6-W719Rhet unknown0.538Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.01 (benign)
0.25FANCE-A502Thet unknown0.214Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25HLA-DQA1-L8Mhet unknown0.457Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQA1-C34Yhet unknown0.547Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQA1-F41Shet unknown0.544Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQA1-T130Ihet unknown0.151Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQA1-Q152Hhet unknown0.526Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DQA1-M230Vhet unknown0.782Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL11A2-E276Khet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.651 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25APC-V1822Dhet unknown0.887Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TRIOBP-S217Nhet unknown0.413Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests
0.25TRIOBP-Q398Delhet unknown0.308Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TRIOBP-K413Rhet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25TRIOBP-S493Nhet unknown0.139Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TRIOBP-T817Shet unknown0.080Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.16 (benign), Testable gene in GeneTests
0.25TRIOBP-N863Khet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.25TRIOBP-F1187Lhet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests
0.25TRIOBP-H1300Rhet unknown0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.25TRIOBP-W1377Rhomozygous0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.084 (benign), Testable gene in GeneTests
0.25SLC2A9-P350Lhomozygous0.232Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC2A9-R294Hhet unknown0.296Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.25SLC2A9-G25Rhet unknown0.358Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DOK7-H113Phet unknown0.183Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DOK7-R120Qhet unknown0.146Unknown
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
0.25DOK7-R38Ghet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DOK7-R38Ghet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DOK7-G461Dhet unknown0.128Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.565 (possibly damaging), 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
0.25ARSE-G424Shet unknown0.543Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25UCHL1-S18Yhet unknown0.111Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.029 (benign)
0.25CNGA1-S3Fhet unknown0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CNGA1-E2Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GHR-I544Lhet unknown0.473Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.25MYO10-S1663Thomozygous0.822Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MYO10-R1643*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25MYO10-R324Whomozygous0.485Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ARSA-T391Shet unknown0.423Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25UGT2B7-Y268Hhet unknown0.727Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SHANK3-I245Thet unknown0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PEX6-P939Qhet unknown0.339Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PCNT-G704Ehomozygous0.855Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PCNT-T879Ahet unknown0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.707 (possibly damaging), Testable gene in GeneTests
0.25PCNT-V1038Ahomozygous0.847Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PCNT-I1639Vhet unknown0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PCNT-N1841Shet unknown0.221Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PCNT-L2097Phet unknown0.262Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25PCNT-H2125Phet unknown0.310Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PCNT-M2188Rhet unknown0.186Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PCNT-W2239Rhet unknown0.210Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25PCNT-H2247Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PCNT-Q2361Rhet unknown0.262Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.25PCNT-A2549Thet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.009 (benign), Testable gene in GeneTests
0.25PCNT-Q2792Rhet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.25COL6A1-R850Hhet unknown0.264Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NOS3-D298Ehet unknown0.844Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MAN2B1-L278Vhet unknown0.236Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MUT-I671Vhet unknown0.522Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CFTR-V470Mhet unknown0.621Unknown
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: 1
Polyphen 2: 0.002 (benign)
0.25RP1-N985Yhet unknown0.206Unknown
benign
Low clinical importance,
uncertain
Probably benign. One report linked this variant to high triglycerides, but a later paper found a nearby SNP with similar association and suggests that both findings are caused by linkage to an undiscovered causal variant.
0.25RP1-C2033Yhet unknown0.186Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests
0.25SIK1-G643Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SIK1-A615Vhomozygous0.854Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.011 (benign)
0.25SIK1-G15Shet unknown0.165Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25TMC1-E81Khet unknown0.308Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TMC1-R141Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FAM201A-G53Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25FAM201A-Q115*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25TMEM67-I604Vhet unknown0.710Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TG-S734Ahet unknown0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TG-M1028Vhet unknown0.696Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25TG-D1312Ghet unknown0.344Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TG-R1999Whomozygous0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TG-W2501Rhet unknown0.566Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.031 (benign), Testable gene in GeneTests
0.25TG-R2530Qhomozygous0.586Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25PON1-Q192Rhet unknown0.572Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.25PON1-L55Mhet unknown0.230Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.25SYNJ2-Y61Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SYNJ2-E1468Ghet unknown0.548Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25COL9A1-Q621Rhet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GLI3-T183Ahet unknown0.663Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RSPH4A-R556Hhet unknown0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25RSPH4A-L589Phet unknown0.707Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC22A16-H49Rhet unknown0.333Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25EYA4-G277Shet unknown0.467Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25SOD2-V16Ahet unknown0.362Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PRIM2-L39*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25PRIM2-E181Khet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PRIM2-D204Ghet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PRIM2-S259Ghet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PRIM2-L286Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PRIM2-Y287Chet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PRIM2-H289Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PRIM2-N298Shifthet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25PRIM2-C302Rhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PRIM2-T323Ahet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PRIM2-Q325*het unknown0.492Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.25PRIM2-D342Ghet unknown0.468Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PRIM2-Y345Chet unknown0.468Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PRIM2-R349Chet unknown0.468Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PRIM2-H445Qhet unknown0.892Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PRIM2-S464Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TXNDC3-R43Khet unknown0.291Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TXNDC3-C208Rhet unknown0.740Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TXNDC3-I493Thet unknown0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.074 (benign), Testable gene in GeneTests with associated GeneReview
0.25NPSR1-N107Ihet unknown0.462Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.25NPSR1-Q344Rhet unknown0.309Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LMBRD1-D469Ehet unknown0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0UNC13D-R928Chet unknownRecessive
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview
0SERPINA1-E288Vhet unknown0.047Recessive
pathogenic
Low clinical importance,
well-established
This variant represents the PiS variant in alpha-1-antitrypsin deficiency where a homozygous individual has 60% enzymatic activity. This variant alone is unlikely to much effect, but 3-4% of heterozygotes are compound heterozygous with the more severe PiZ variant, which is associated with an increased risk of emphysema and COPD.
0HPS6-A486Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0DCTN1-A318Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0CLEC7A-Y238*het unknown0.043Recessive
pathogenic
Low clinical importance,
uncertain
This variant has been found to impair homan mucosal antifungal defense and was implicated in vulvovaginal candidiasis and mucocutaneous infections in a Dutch family.

Input file format: CGIVAR

Genome build: b37

Genome coverage: 2,745,351,077 bases (96.9% of callable positions, 90.8% of total positions)

Coding region coverage: 32,819,928 bases (98.8% of all genes, 99.4% of genes with clinical testing available)

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

Gene search

"GENE" or "GENE A123C":

Log in