- GET-Evidence variant report

Variant report for

Log file: 




VariantClinical
Importance
ImpactAllele
freq
Summary
1LRP5-V667MHighUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.0413646This variant has been implicated in causing osteoporosis-pseudoglioma syndrome in a recessive manner. The gene is strongly implicated in causing the disease, but an insufficient number of controls means this variant's observation lacks statistical significance. The condition manifests in childhood with early onset osteoporosis and eye problems.1
2FLG-S761ShiftModerateUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.00793651Based on other severe variants in the same gene, this variant is likely to cause ichthyosis vulgaris when homozygous or compound heterozygous with another severe variant. Some authors report the variant has incomplete dominance, with heterozygotes generally having a very mild phenotype: some palmar hyperlinearity, keratosis pilaris and, in some cases fine scale.1
3PPARG-P12AModerateUncertainUncertain not reviewed

Unknown, Heterozygous
0.08867821
4HFE-C282YLowWell-establishedWell-established pathogenic

Recessive, Carrier (Heterozygous)
0.0494516This variant is associated with hereditary haemochromatosis, 80% of patients with that disease are homozygous for this variant. However, the penetrance is low, in Beutler et al. they note that only 1 of their 158 homozygotes met criteria for diagnosis with the condition.1
5MTRR-I49MLowLikelyLikely pathogenic

Recessive, Carrier (Heterozygous)
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
6CLEC7A-Y238XLowUncertainUncertain pathogenic

Recessive, Homozygous
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
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
8LRP5-A1330VLowUncertainUncertain pathogenic

Complex/Other, Homozygous
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
9POLG-Q1236HLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.0581893Generally a nonpathogenic polymorphism, but may have a modifier effect that increases severity when combined in cis with other pathogenic variants.1
10TGFB1-R25PLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.0488858This variant in a growth factor gene is associated with variation in TGFB1 levels; this has been associated with various pathogenic and some protective effects, including: more hepatic fibrosis progression in hep C patients, lower risk of cleft palate, anticorrelation with longevity, higher risk of myocardial infarction and lower risk of hypertension.1
11RNASEL-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
12ELAC2-S217LLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.273471Reported to be associated with increased susceptibility to prostate cancer, but later studies weaken the hypothesis. Xu et al.'s meta-analysis concludes that there is a small but significant increased risk (OR = 1.13). Assuming a lifetime risk of 16% for prostate cancer we calculate this leads to an increased risk of ~1.5% (17.5% total).1
13DYX1C1-E417XLowUncertainUncertain pathogenic

Unknown, Heterozygous
0.20147One study reports this variant to be associated with dyslexia. The study group was relatively small and so the results did not have strong significance. If they are representative this variant is associated with a doubled risk for dyslexia, but it is unclear whether the effect would be additive, dominant, or recessive.1
14TP53-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
15SP110-L425SLowUncertainUncertain pathogenic

Unknown, Homozygous
0.863357This variant is associated with a slightly increased risk of tuberculosis. It is unclear whether it is itself causal, or in linkage disequilibrium with some other causal variant that has a stronger effect.1
16WFS1-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
17ABCC6-R1268QLowUncertainUncertain pharmacogenetic

Unknown, Heterozygous
0.218907This common polymorphism appears to not have a significant phenotypic impact. A few studies report weak but significant associations with plasma lipids (in Inuits) and thalidomide toxicity.1
18FUT2-W154XModerateWell-establishedWell-established protective

Recessive, Carrier (Heterozygous)
0.490519This recessive protective variant confers resistance to norovirus (which causes stomach flu). 20% of Caucasians and Africans are homozygous for this variant and are "non-secretors": they do not express ABO blood type antigens in their saliva or mucosal surfaces. Most strains of norovirus bind to these antigens in the gut, and so this non-secretor status confers almost total resistantance to most types of norovirus. There are notable exceptions, some strains of norovirus bind a different target and are equally infectious for secretors and non-secretors.1
19PRNP-M129VLowWell-establishedWell-established protective

Complex/Other, Heterozygous
0.339561This variant is associated with some protective effects for prion disease -- individuals homozygous for this variant are less susceptible to Creutzfeldt-Jakob, and Papua New Guinea individuals heterozygotes at this site are less susceptible to kuru. 1
20CASP10-V410ILowLikelyLikely protective

Dominant, Heterozygous
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
21NPC1-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
22KCNJ11-K23ELowLikelyLikely protective

Unknown, Homozygous
0.738148This variant is associated with decreased risk of type 2 diabetes. It is unclear whether this variant has additive effects, or acts in a dominant or recessive manner. Assuming diabetes has a lifetime risk of 36%, we estimate a decreased risk of around 1-2% per copy of this variant.1
23IRS2-G1057DLowUncertainUncertain protective

Unknown, Heterozygous
0.232615a.k.a Gly1057Asp, insulin receptor substrate-2 IRS2. The rs1805097(G) allele is associated with the Gly, and the (A) allele with Asp. A longevity study concluded that rs1805097(A;A) individuals were about twice as likely to live over 85 y/o (odds ratio 2.03, CI:1.39-2.99, p = .0003). 1
24TGM1-V518MLowLikelyLikely benign

Unknown, Heterozygous
0.0113425Probably a non-pathogenic polymorphism. It was initially thought to be involved in autosomal recessive congenital ichthyosis, but later authors found the variant in numerous healthy controls.1
25RYR2-G1885ELowLikelyLikely benign

Recessive, Carrier (Heterozygous)
0.0179176Hypothesized to cause arrhythmogenic right ventricular cardiomyopathy when compound heterozygous with G1886S. However, this variant is quite common (2.4% in Europeans), as is G1886S (3.1% in Europeans), and about 1 in 700 are compound heterozygous. This is highly discordant with a disease prevalence of 1 in 2500 to 5000, and notably G1886S is reported in ClinVar as benign. We should consider the original hypothesis disproven.1
26CACNA1S-L458HLowLikelyLikely benign

Unknown, Heterozygous
0.27282Common polymorphism1
27OCA2-R419QLowLikelyLikely benign

Unknown, Heterozygous
0.0565161This variant is associated with eye color, as is OCA2 R305W. Individuals with this variant are reported to be more likely to have green/hazel eyes as opposed to blue/gray eyes. Other variants in this gene are associated with oculocutaneous albinism (albinism which involves skin and eyes).1
28FBN2-S2580LLowUncertainUncertain benign

Dominant, Heterozygous
0.0779885Probably benign -- initially associated with congenital contractual arachnodactyly, but later reports classify it as a nonpathogenic polymorphism.1
29APOB-Y1422CLowUncertainUncertain benign

Unknown, Homozygous
0.999628This position is almost certainly an error in the HG18 reference sequence. 1
30GJB3-R32WLowUncertainUncertain benign

Unknown, Heterozygous
0.022309Probably benign. Although Polyphen 2 predicts it be damaging and some publications suggested it might have a functional effect, others report it to be a fairly common polymorphism and functional studies failed to find a difference between it and wild type.1
31VWF-G2705RLowUncertainUncertain benign

Unknown, Heterozygous
0.0460123Probably benign, seems to be considered an uncommon polymorphism.1
32SDHD-H50RLowUncertainUncertain benign

Unknown, Heterozygous
0.00659974Probably benign. Other mutations in this gene are implicated in causing hereditary paraganglioma or pheochromocytoma syndromes, but this variant is also found in unaffected controls and is considered a nonpathogenic polymorphism by most authors that have reported it.1
33LPIN2-L504FLowUncertainUncertain benign

Unknown, Heterozygous
0.00316279Unreported and rare, tentatively evaluated as benign. Other recessive mutations in this gene cause Majeed syndrome (multifocal osteomyelitis, anemia, and dermatosis). Although unstudied, LPIN2 is in a locus associated with psoriasis.1
34COL5A2-P460SLowUncertainUncertain benign

Unknown, Heterozygous
0.0400632Tentatively benign. Although predicted to be damaging by Polyphen 2, this variant is seen in 2 out of 62 PGP & public genomes. OMIM lists other more disruptive variants (frameshift & nonsense) as reported to cause Ehlers-Danlos syndrome when homozygous.1
35TAS2R38-A49PLowUncertainUncertain benign

Unknown, Homozygous
0.431121This variant is strongly associated with causing the "taster" phenotype of phenylthiocarbamine (PTC) in a dominant manner.1
36PKP2-L366PLowUncertainUncertain benign

Unknown, Heterozygous
0.221231This variant is a benign polymorphism. 1
37PCSK9-G670ELowUncertainUncertain benign

Unknown, Homozygous
0.888269This variant is likely benign. 1
38MAPT-R370WLowUncertainUncertain benign

Unknown, Heterozygous
0.155549Probably benign.1
39PTCH1-P1315LLowUncertainUncertain benign

Unknown, Heterozygous
0.29631Common polymorphism, presumed benign.1
40SLC45A2-L374FLowUncertainUncertain benign

Unknown, Homozygous
0.691764Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma.1
41TPCN2-G734ELowUncertainUncertain benign

Unknown, Heterozygous
0.286166Pigmentation allele.1
42TAS2R38-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
43USH2A-V230MLowUncertainUncertain benign

Recessive, Carrier (Heterozygous)
0.0157092This rare variant may be associated with Usher Syndrome II, but the literature seems to have concluded that it is a non-pathogenic polymorphism (including authors who earlier reported it as pathogenic).1
VariantPrioritization scoreAllele
freq
Num of
articles
Zygosity and Prioritization Score Reasons

Exome coverage: 32898890 / 33282720 = 98.85%

GeneChromosomeCoverageMissingLengthMissing regions
1AGRN10.967416096448352006138955553-955600, 955612, 955617-955620, 955658, 981931, 981973-981975, 981987, 983484, 983598-983674, 983677-983684, 983691-983745
2GABRD10.967623252391464413591950863-1950881, 1950897-1950898, 1950904-1950910, 1950913-1950928
3NPHP410.996262555477691642815964739-5964754
4ESPN10.9153996101364521725656488322-6488336, 6488378-6488392, 6500389, 6500712-6500717, 6500727-6500729, 6500741, 6500752-6500760, 6500765-6500770, 6500779, 6500782, 6500840-6500868, 6505732-6505738, 6505775-6505820, 6505849-6505863, 6505873-6505920, 6511953-6511959, 6512127-6512133
5PLEKHG510.974600188146758131896530362-6530367, 6530370, 6534101-6534113, 6534130, 6534152-6534171, 6534511-6534515, 6534525, 6534529-6534531, 6534536-6534541, 6534549-6534563, 6534580-6534585, 6557380-6557383
6KIF1B10.998870694522876531310355168, 10356989, 10381887, 10425584-10425586
7CLCNKA10.9864341085271328206416349191-16349197, 16354391-16354397, 16358268-16358274, 16360141-16360147
8CLCNKB10.9762596899224849206416373044-16373085, 16383399-16383405
9ATP13A210.998588766581995354317322611-17322615
10PINK110.9862542955326524174620960259-20960282
11HSPG210.9935488767456851317622165415-22165417, 22198706, 22202231-22202240, 22213739-22213746, 22263648-22263710
12WNT410.9270833333333377105622469339-22469415
13FUCA110.9921484653818711140124186321-24186331
14SEPN110.89028776978417183166826126722-26126904
15ZMPSTE2410.9894957983193315142840735753-40735767
16COL9A210.99758454106285207040781313-40781316, 40782859
17KCNQ410.99856321839083208841249774, 41249788, 41249891
18LEPRE110.999547715965631221143212431
19MPL10.999475890985321190843818356
20DHCR2410.9896840747904616155155341699, 55352582-55352585, 55352589, 55352595-55352600, 55352604-55352607
21PCSK910.9961519961528207955505553-55505560
22ALG610.998039215686273153063881552, 63881592-63881593
23LEPR10.99914236706693349866067568-66067570
24GLMN10.999439775910361178592732025
25RPL510.99664429530201389493307412-93307414
26ABCA410.9976546467311616682294497519-94497534
27DPYD10.9681611435997498307897847949-97848017, 98060663-98060687, 98144721, 98144735-98144736, 98348895
28AGL10.99695585996956144599100340719-100340720, 100340769, 100366297-100366304, 100387090-100387092
29COL11A110.963533076782111995457103363734, 103364222-103364320, 103364518, 103380333-103380335, 103380339-103380340, 103428282-103428293, 103435775-103435828, 103470205-103470217, 103471840-103471843, 103471856, 103478001, 103496716-103496717, 103544408-103544411, 103548460, 103548469
30GSTM110.43226788432268373657110230496-110230531, 110230792-110230816, 110230826-110230828, 110230839, 110230841, 110230854, 110230858, 110230861, 110231295-110231296, 110231302, 110231687-110231695, 110231714, 110231724-110231726, 110231847-110231947, 110232893-110232894, 110232900-110232902, 110232908-110232918, 110232929-110232988, 110233076-110233171, 110235877, 110235882-110235895
31AMPD110.99465240641711122244115236057-115236068
32VANGL110.9949206349206381575116206678-116206685
33HMGCS210.9973804846103541527120306838-120306841
34NOTCH210.975728155339811807416120539665-120539714, 120539739-120539784, 120539916, 120539936, 120547962-120547968, 120548051, 120548091-120548097, 120548162-120548173, 120572544-120572575, 120572609-120572610, 120611957-120611967, 120612000-120612009
35FLG10.996635483341544112186152276383-152276389, 152278049, 152278182, 152278189, 152278192-152278194, 152278198, 152279406, 152281911, 152285116-152285140
36PKLR10.9976811594202941725155269990-155269993
37NTRK110.999581764951912391156830752
38F510.99580524344569286675169510290-169510296, 169510325-169510344, 169525927
39DARS210.98452012383901301938173802552, 173802555-173802557, 173802561-173802586
40HMCN110.99976342559735416908185932916, 185932970-185932972
41PDC10.952766531713935741186418547, 186418558-186418591
42CDC7310.9949874686716881596193181583-193181590
43CFH10.98511904761905553696196658657, 196658694-196658732, 196697478, 196705954-196705955, 196706730, 196706764-196706767, 196706777-196706783
44CFHR110.996978851963753993196797204, 196797292, 196799807
45CFHR510.97543859649123421710196953112-196953116, 196953124-196953137, 196953141-196953163
46ASPM10.996453900709223710434197069690-197069692, 197069700, 197070694-197070710, 197104256, 197104332-197104345, 197113093
47USH2A10.998974950349161615609215916529-215916536, 215916564-215916568, 215916676-215916677, 216538355
48PSEN210.999257609502611347227071472
49GJC210.897727272727271351320228345562, 228345565, 228345586-228345590, 228345597, 228345611, 228345614, 228345618, 228345682, 228345787, 228345921-228345925, 228346053-228346076, 228346361, 228346365, 228346387, 228346390-228346421, 228346429, 228346443-228346487, 228346526, 228346615-228346618, 228346624, 228346632-228346635, 228346651-228346652
50ACTA110.98500881834215171134229567916-229567932
51LYST10.994476591267756311406235875425-235875431, 235875469, 235875484-235875497, 235907284, 235907292-235907294, 235907313, 235907319-235907327, 235907335, 235907348-235907349, 235907355, 235944168, 235944171-235944174, 235944230, 235944244, 235950500-235950505, 235950510, 235950560, 235950563, 235956861, 235967944-235967945, 235967958-235967961
52RYR210.99637681159425414904237656265, 237656314, 237656317, 237791139, 237821244-237821260, 237821274-237821302, 237838070-237838072, 237881799
53FH10.9993476842791911533241672061
54NET1100.99609156895589717915495266-5495272
55CUBN100.99871228844739141087217085918, 17085947-17085957, 17085966, 17142056
56PTF1A100.99594731509625498723481845-23481846, 23481903, 23481910
57MYO3A100.9950525664811424485126355992, 26377197, 26385315-26385320, 26385578, 26385591-26385605
58PDSS1100.9903846153846212124826994231, 26994269-26994273, 26994278, 26994293-26994297
59RET100.9916292974588928334543572714-43572720, 43572729-43572746, 43572750-43572752
60ERCC6100.999776885319051448250740831
61CHAT100.93012906097018157224750822269-50822421, 50822432-50822435
62PCDH15100.9972830701307516588955587191, 55587194, 55719516, 55719519-55719521, 55721549, 55973696-55973699, 56128980-56128983, 56138661
63EGR2100.99790356394133143164573617-64573619
64LDB3100.9913003663003719218488476184-88476187, 88476263-88476266, 88476273-88476282, 88476300
65BMPR1A100.995622263914957159988683143-88683149
66PTEN100.99834983498352121289720651-89720652
67LIPA100.999166666666671120090974619
68HPS6100.999570446735412328103826138
69SUFU100.9986254295532621455104264034, 104264037
70COL17A1100.9979973297730394494105816808-105816816
71BAG3100.99074074074074161728121436748-121436763
72HTRA1100.914067914067911241443124221169-124221239, 124221248-124221255, 124221270, 124221276, 124221279-124221286, 124221289, 124221299-124221306, 124221315-124221335, 124221359, 124221377-124221378, 124221396, 124221581
73SLC25A22110.9814814814814818972792637, 792643-792649, 792665-792666, 792669, 792686, 792884-792889
74PNPLA2110.99207920792079121515819858-819869
75CTSD110.99838579499596212391785030, 1785089
76TH110.987936507936511915752191027, 2191928-2191941, 2191950-2191953
77CDKN1C110.723449001051522639512905938-2905940, 2905945-2905963, 2905969-2905972, 2906074-2906255, 2906400-2906443, 2906463, 2906482-2906487, 2906635-2906638
78SMPD1110.988396624472572218966411935, 6412740-6412742, 6412754-6412755, 6412764-6412777, 6412783-6412784
79SBF2110.999639639639642555010013974, 10315615
80USH1C110.998148148148155270017517116, 17531126, 17531314-17531315, 17531318
81ANO5110.9730123997082474274222276925, 22276931, 22276971, 22276998-22277068
82PDHX110.999335989375831150634991705
83RAG1110.9964878671775211313236594956-36594966
84ALX4110.997572815533983123644331287-44331289
85ROM1110.993371212121217105662381337-62381343
86SLC22A12110.998194945848383166264367186, 64367278, 64367355
87AIP110.979859013091642099367257559-67257578
88LRP5110.9847359735973674484868080183-68080248, 68080270, 68177557-68177563
89DHCR7110.995798319327736142871146577, 71146583-71146584, 71146594-71146595, 71146671
90MYO7A110.999548736462093664876922280-76922281, 76922295
91TYR110.994339622641519159089017958-89017964, 89017973, 89017992
92MTMR2110.999482401656311193295657111
93DYNC2H1110.9858632676709218312945102984298-102984338, 102991423-102991426, 102991498, 102991658, 103029411-103029417, 103029452-103029453, 103029472, 103029508-103029509, 103029653, 103031701, 103031752, 103036769, 103043811-103043816, 103043835-103043836, 103043938-103043941, 103043949-103043959, 103043967, 103044004, 103044020, 103052512, 103052519-103052524, 103059226-103059241, 103059317-103059327, 103062254, 103062312, 103062826-103062833, 103062932-103062934, 103082528, 103082541-103082542, 103082546-103082547, 103082638-103082672, 103093700, 103128444-103128447, 103128451, 103130688
94ATM110.985824882782681309171108126942-108127067, 108196200-108196203
95DLAT110.99074074074074181944111909968-111909972, 111909979, 111909982-111909988, 111909992, 111909995-111909996, 111910019, 111910030
96WNK1120.99748216533781187149863230-863247
97CACNA1C120.99893308946807765612794934-2794940
98VWF120.988509831793419784426121282, 6125338-6125344, 6127532-6127538, 6127655-6127661, 6127943, 6128167-6128173, 6131925-6131932, 6131955-6131982, 6132003-6132033
99TNFRSF1A120.99561403508772613686438609-6438614
100ATN1120.982087881332216435737045597-7045604, 7045610, 7045888-7045942
101GYS2120.9791666666666744211221712029-21712072
102ABCC9120.9931182795698932465022063776, 22063785, 22063798-22063826, 22068619
103DNM1L120.998190863862514221132866239, 32883948-32883950
104KIF21A120.9945848375451327498639745594, 39745597-39745599, 39745602-39745603, 39745608-39745609, 39745630-39745633, 39745731-39745744, 39761771
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294ALK20.9979436561793110486329451753, 29451757-29451763, 29451769, 29451784
295SPAST20.92814694759589133185132289016-32289017, 32289024-32289028, 32289037, 32289082-32289084, 32289101-32289148, 32289150, 32289158-32289211, 32289217-32289226, 32289229, 32289232, 32289249-32289253, 32339812, 32361948
296SOS120.9970014992503712400239224535, 39224548, 39224559, 39224562, 39285868-39285871, 39285876-39285879
297ABCG520.999488752556241195644059117
298LRPPRC20.998566308243736418544161955-44161958, 44161962-44161963
299MSH620.9921626255204532408348010460-48010469, 48010518-48010527, 48010537, 48010558-48010568
300EFEMP120.988529014844817148256102081, 56102090-56102093, 56102098-56102101, 56102108, 56102118, 56102130, 56102179, 56103874-56103877
301ALMS120.99872040946897161250473613032-73613043, 73676488, 73786230, 73786240-73786241
302SUCLG120.9846301633045116104184668564-84668579
303GGCX20.999121651295562227785782701, 85788521
304SFTPB20.999127399650961114685895274
305REEP120.947194719471953260686564602-86564633
306EIF2AK320.996717397791711335188887537-88887540, 88887600, 88887620-88887622, 88926730-88926732
307TMEM12720.99581589958159371796919781-96919783
308RANBP220.929405684754526839675109345588-109345589, 109345604-109345615, 109347230, 109347836-109347842, 109347874-109347894, 109351988-109351996, 109352632-109352638, 109356965-109356975, 109357110-109357126, 109363189-109363203, 109365376, 109367841-109367874, 109368046-109368080, 109368104-109368110, 109368334-109368342, 109368430-109368450, 109369545-109369552, 109369942-109369948, 109370291-109370312, 109370369-109370401, 109371385-109371402, 109371495-109371512, 109371632-109371633, 109374901-109374919, 109382748-109382754, 109382787-109382794, 109382843, 109382889-109382896, 109382937-109382946, 109383052-109383058, 109383084-109383113, 109383137-109383148, 109383187-109383232, 109383268-109383274, 109383315-109383321, 109383354-109383371, 109383635-109383641, 109383676-109383708, 109383768-109383798, 109383822-109383828, 109383885-109383910, 109383980-109384013, 109384164-109384170, 109384469, 109384505-109384511, 109384561-109384567, 109384597-109384615, 109384628-109384634
309NPHP120.9980334316617542034110922726-110922729
310MERTK20.988363000112656313-112656348
311GLI220.99684940138626154761121746089, 121746092, 121746167-121746169, 121746208-121746210, 121746228, 121746247-121746250, 121746261, 121746542
312BIN120.99326599326599121782127808048-127808049, 127808399-127808401, 127808440-127808446
313PROC20.96320346320346511386128180668-128180710, 128180732-128180739
314CFC120.994047619047624672131280383, 131285311-131285313
315RAB3GAP120.9996605566870312946135815635
316ZEB220.999725651577513645145161520
317MMADHC20.9809203142536517891150438705-150438710, 150438719, 150438733-150438735, 150438739-150438745
318NEB20.9945929708621210819974152417746-152417748, 152425221-152425230, 152432707, 152432717-152432794, 152432810-152432820, 152432830-152432832, 152470888, 152511866
319SCN2A20.99567962778332266018166210821-166210824, 166221768, 166234133-166234153
320GALNT320.9989484752891721902166611143, 166611162
321SCN1A20.9998332499583115997166903448
322SCN9A20.998988877654265934167060939, 167060963-167060964, 167060967, 167084205, 167089945
323ABCB1120.9989914271306143966169836376-169836379
324HOXD1320.9980620155038821032176957972-176957973
325AGPS20.96611026808295671977178333217, 178333246, 178333250, 178346787-178346826, 178346840-178346846, 178346876-178346878, 178346901-178346914
326PRKRA20.998938428874731942179312302
327TTN20.999730667943527100248179392316-179392317, 179433937-179433938, 179433961-179433964, 179447752-179447765, 179447938, 179504828, 179538426, 179540711, 179598162
328COL3A120.98568507157464634401189850496, 189850501-189850504, 189854122, 189854134, 189854162-189854175, 189856934, 189860864, 189871663-189871701, 189871711
329COL5A220.99644444444444164500189909957, 189927777-189927784, 189932797-189932800, 189932809, 189932825, 189932828
330PMS120.98713826366559362799190718676-190718685, 190718734, 190718754, 190718763-190718770, 190718773, 190718781-190718792, 190718965-190718966, 190728731
331STAT120.9995561473590812253191859858
332CASP820.99257884972171121617202149576-202149580, 202149589-202149594, 202149606
333ALS220.9995979091274624974202574664, 202626387
334FASTKD220.9990623534927322133207652760-207652761
335ACADL20.9992266047950511293211053687
336ABCA1220.9997431946584527788215901732, 215901774
337DES20.9957537154989461413220283708-220283709, 220283717-220283720
338OBSL120.99543138288526265691220417331, 220417339, 220417357-220417358, 220417365, 220435667-220435673, 220435742-220435747, 220435753, 220435759-220435760, 220435911, 220435921-220435922, 220435940-220435941
339COL4A420.9998025276461315064227942728
340COL4A320.9996010373030125013228137737, 228163476
341UGT1A120.995630461922671602234668951-234668954, 234668966-234668968
342D2HGDH20.98403575989783251566242707212-242707236
343AVP200.82020202020202894953063623-3063632, 3063638-3063639, 3063655-3063661, 3063670-3063738, 3063774
344PANK2200.99824868651489317133869794-3869795, 3869883
345C20orf7200.9816955684007719103813782135, 13782199, 13782207-13782223
346THBD200.9942129629629610172823028890-23028899
347SNTA1200.9664031620553451151832031246-32031252, 32031376-32031411, 32031415-32031422
348CTSA200.997995991983973149744520238-44520240
349CD40200.99760191846523283444756969-44756970
350VAPB200.99726775956284273256993346, 56993371
351KCNQ2200.999236349751812261962073767, 62103711
352SOX18200.69004329004329358115562680512-62680869
353APP210.998702983138783231327394182-27394184
354IFNGR2210.9477317554240653101434775851, 34775864-34775869, 34775873-34775875, 34775878-34775911, 34775914-34775922
355RCAN1210.98287220026351375935987154-35987157, 35987252-35987260
356RUNX1210.9923769923769911144336259309-36259315, 36259375-36259378
357CLDN14210.99583333333333372037833307, 37833867-37833868
358AIRE210.99938949938951163845714298
359ITGB2210.9943722943722913231046308631-46308637, 46308644, 46308658, 46308679-46308682
360COL6A1210.99935212180112308747401789, 47410294
361FTCD210.9932349323493211162647565744-47565746, 47565762-47565769
362PCNT210.99660373589052341001147754449, 47754653-47754659, 47766859-47766875, 47822306-47822307, 47832898-47832904
363PEX26220.985838779956431391818561219-18561229, 18561232-18561233
364PRODH220.995562950637838180318908891, 18909890-18909896
365GP1BB220.99677938808374262119711611, 19711826
366TBX1220.88239247311828175148819748428-19748601, 19753518
367HPS4220.999526515151521211226860010
368CHEK2220.92447473026689133176129083906-29083916, 29083947-29083965, 29085123-29085143, 29085165-29085171, 29090051-29090057, 29091154-29091179, 29091778-29091811, 29091837-29091844
369TCN2220.989875389408113128431003347-31003359
370DRG1220.9800724637681222110431796698-31796719
371MYH9220.999830018697941588336688121
372TRIOBP220.96731473654551232709838119745, 38119749-38119757, 38119763, 38119766-38119767, 38119771, 38119798-38119804, 38119859, 38119869, 38119879-38119921, 38120003-38120020, 38120030-38120078, 38120153, 38120176-38120178, 38120193-38120199, 38120270-38120303, 38120426-38120450, 38120480-38120506, 38165151-38165152
373EP300220.9965493443754325724541545982-41545999, 41546050, 41546056-41546058, 41546063-41546065
374TNFRSF13C220.969369369369371755542322247, 42322272-42322273, 42322276-42322277, 42322298-42322299, 42322305, 42322309, 42322316-42322322, 42322326
375CYB5R3220.981236203090511790643045305-43045321
376TYMP220.9758454106280235144950964244, 50964247-50964250, 50964450, 50964471, 50964493-50964496, 50964510-50964515, 50964520, 50964554-50964560, 50964728, 50964732, 50964751, 50964804, 50964809, 50964812, 50964819-50964822
377ARSA220.996719160104995152451063817-51063820, 51063824
378SHANK3220.87090007627765677524451113070-51113132, 51133369, 51135694-51135709, 51135951-51136143, 51158731-51158748, 51158755-51158760, 51158777-51158778, 51158784-51158787, 51158789-51158795, 51158838, 51158841-51158900, 51158907, 51158919-51158920, 51158922-51158928, 51158931-51158936, 51158939, 51158951-51158958, 51158963-51158965, 51158969-51158970, 51158980-51159012, 51159018-51159038, 51159063-51159083, 51159104, 51159109, 51159152, 51159155, 51159158, 51159195, 51159420-51159425, 51169180-51169225, 51169265-51169270, 51169291-51169295, 51169343, 51169437, 51169506-51169536, 51169540-51169556, 51169589-51169593, 51169596, 51169603-51169608, 51169617-51169631, 51169634, 51169637, 51169641-51169645, 51169651-51169668, 51169676-51169692, 51169697, 51169702-51169706, 51169712-51169716, 51169720, 51169740
379SUMF130.99822222222222211254458866, 4458921
380FANCD230.9827898550724676441610088264-10088311, 10088340-10088346, 10106529-10106535, 10107165-10107171, 10114941-10114947
381CRTAP30.993366500829198120633155629-33155632, 33155635-33155637, 33155913
382MLH130.999559665345661227137067170
383ABHD530.998095238095242105043756491, 43756503
384COL7A130.999434069043585883548627038-48627042
385HESX130.99462365591398355857232258-57232260
386PDHB30.997222222222223108058416529-58416530, 58416535
387ATXN730.90133897110641280283863898275-63898405, 63898424-63898428, 63898439-63898443, 63898447-63898448, 63898454-63898589, 63898594
388GBE130.9587482219061287210981692061-81692062, 81692065, 81754644, 81754666-81754690, 81754700-81754705, 81754713-81754764
389CHMP2B30.99844236760125164287299125
390POU1F130.986373165618451395487310463-87310475
391PROS130.999507631708521203193595880
392ARL13B30.9961149961155128793761923, 93762076-93762079
393ARL630.978609625668451256197503799-97503810
394ATP2C130.9996491228070212850130718472
395NPHP330.957926371149511683993132416202, 132432060, 132438549-132438674, 132441037-132441044, 132441050-132441051, 132441092-132441121
396FOXL230.98320070733864191131138664820-138664822, 138664828-138664831, 138664873, 138664876-138664878, 138664884-138664891
397PLOD230.97145366710584652277145802975, 145804574-145804584, 145804595-145804596, 145804604-145804607, 145804623-145804663, 145804670-145804674, 145828094
398IFT8030.999570446735412328160037691
399PLD130.9978294573643473225171427398-171427401, 171431800-171431802
400GHSR30.9945504087193561101172166102-172166107
401MCCC130.9995408631772312178182788894
402OPA130.999671916010513048193355032
403IDUA40.9959225280326281962980971, 996693, 996936-996939, 996942, 996945
404SH3BP240.9951534733441918572820034-2820035, 2820098-2820099, 2820103-2820106, 2820115
405HTT40.990242867748449294293076606-3076608, 3076617-3076658, 3076662-3076663, 3076669-3076670, 3076678-3076680, 3076683, 3076686, 3076693-3076694, 3076704-3076708, 3076720, 3076732-3076737, 3076765-3076780, 3174771, 3241627-3241633
406DOK740.964356435643565415153465149-3465156, 3465233-3465278
407EVC240.99974535268653139275633756
408EVC40.994293387042631729795713109, 5754629-5754644
409CC2D2A40.9971211186510414486315556749-15556762
410CNGA140.9776315789473751228047945255-47945257, 47954600-47954616, 47954620-47954624, 47954627-47954632, 47954643, 47954656-47954659, 47954666, 47954705, 47972960-47972961, 47972987-47972995, 47972998, 47973005
411SLC4A440.999391171993912328572352666, 72352694
412ALB40.998907103825142183074279280-74279281
413PKD240.9824561403508851290788928912-88928961, 88929002
414SNCA40.886524822695044842390749294-90749335, 90756699, 90756702, 90756705-90756708
415MTTP40.9951582867784132685100527941-100527953
416MANBA40.99507575757576132640103611766-103611769, 103611786-103611787, 103611792-103611798
417CISD240.9387254901960825408103808498-103808522
418CFI40.9977168949771741752110723096-110723099
419ANK240.998315647633482011874114161673-114161677, 114161723, 114274955-114274968
420BBS740.98091247672253412148122766679, 122766697, 122766700, 122766805, 122775867-122775868, 122775879-122775882, 122775888, 122775922-122775928, 122775939-122775944, 122775947, 122775962, 122775974-122775975, 122782749-122782759, 122782795, 122782834
421BBS1240.9990623534927322133123665123-123665124
422FGB40.9966124661246651476155484280-155484284
423CTSO40.998964803312631966156863567
424GLRB40.97456492637216381494158041716-158041728, 158041736-158041753, 158041794-158041799, 158041803
425GK40.94043321299639991662166199162-166199168, 166199358-166199392, 166199563-166199609, 166200028, 166200450, 166200507, 166200757-166200763
426SDHA50.96290726817043741995223682-223683, 228300-228325, 236613-236619, 236657-236681, 236693-236699, 251143-251149
427TERT50.992350691379822633991294731-1294735, 1294781, 1294929, 1295061-1295078, 1295096
428SDHA50.9969418960244613271593266
429DNAH550.99661261261261471387513727645-13727652, 13727657, 13862782, 13901469, 13916465-13916466, 13916527-13916560
430SLC1A350.99631675874776162936608609-36608614
431NIPBL50.97040998217469249841537017264, 37036481-37036589, 37048604, 37048614-37048742, 37048769-37048777
432LIFR50.9790528233151269329438482716-38482769, 38490322-38490330, 38490390-38490393, 38506018-38506019
433OXCT150.974408189379440156341862745-41862753, 41862758-41862779, 41862783-41862786, 41862796, 41862803, 41862826-41862827, 41862852
434GHR50.9895670318205520191742718969-42718988
435ITGA250.998589960518895354652351944-52351948
436ERCC850.999160369437451119160224786
437NDUFAF250.99803921568627151060394838
438SMN250.99774011299435288569362949, 69372353
439SMN250.99887005649718188570238373
440AP3B150.9780821917808272328577311345, 77563344-77563390, 77563396-77563419
441VCAN50.99872436463546131019182876160-82876172
442RASA150.96374045801527114314486633847, 86642540, 86669980-86669983, 86670024-86670027, 86670034-86670137
443MEF2C50.99859353023912142288024313, 88024410
444GPR9850.994714867078911001892189914934, 89914939, 89914997, 89925028-89925031, 89925068-89925071, 89925131, 89933602, 89971939, 89971951-89971955, 90007116, 90049599-90049600, 90049609, 90049615, 90144479-90144488, 90144494, 90144501-90144505, 90144512-90144517, 90144527-90144551, 90144568-90144569, 90144573, 90144576-90144586, 90144592-90144604, 90144624, 90144628
445WDR3650.98634453781513392856110432802-110432805, 110436326, 110436389-110436420, 110441788, 110441796
446APC50.9994139709329658532112102958-112102960, 112103077, 112128181
447HSD17B450.99547715965626102211118835115, 118835123, 118835129, 118835136-118835140, 118835146, 118835208
448FBN250.99073120494336818739127626538-127626539, 127626576, 127645010-127645041, 127645676-127645704, 127702090-127702100, 127702106, 127702117-127702120, 127702123
449MYOT50.9959919839679461497137221777, 137221824, 137221828, 137221856-137221857, 137221875
450MATR350.9968553459119582544138643131-138643132, 138651765-138651770
451DIAPH150.99450117831893213819140953339-140953342, 140953368-140953371, 140953376, 140953380-140953381, 140953384, 140953431, 140953460, 140953508, 140953564-140953569
452GABRG250.9993540051679611548161529575
453NSD150.99839327648004138091176562809-176562821
454GRM650.9992406985573322634178421866, 178421911
455FLT450.99217986314761324092180076514-180076545
456FOXC160.953670276774977716621610785, 1611523, 1611550, 1611554-1611562, 1611630-1611659, 1611679-1611703, 1611799-1611802, 1611808, 1611821-1611824, 1612053
457DTNBP160.992424242424248105615663093-15663100
458ATXN160.9950980392156912244816327865-16327868, 16327880, 16327916, 16327925-16327930
459HLA-H60.965333333333332675029855849, 29855999, 29856329-29856333, 29856347, 29856353, 29856368, 29856397, 29856406, 29856424-29856427, 29856516, 29856534, 29856546, 29856550, 29856584-29856586, 29856596, 29856611, 29856643
460TNXB60.9533437013996990192931976916, 31976926, 31977164-31977170, 31977361-31977394, 31977528, 31977538, 31977548, 31977552, 31977786-31977792, 31977994-31978002, 31978498-31978517, 31979476-31979482
461CYP21A260.93279569892473100148832006211-32006248, 32006337, 32006886, 32007325, 32007404-32007411, 32008183-32008201, 32008876-32008907
462TNXB60.991986801791191021272932009651, 32009661, 32009899-32009905, 32010096-32010129, 32010269-32010285, 32010520-32010526, 32010728-32010736, 32011235, 32012330-32012336, 32021355-32021365, 32021399-32021405
463HLA-DQA160.889322916666678576832605295, 32609094, 32609105-32609106, 32609130, 32609142, 32609147, 32609150, 32609181, 32609195, 32609199, 32609212-32609213, 32609216, 32609221-32609222, 32609227-32609243, 32609253-32609255, 32609299, 32610387-32610407, 32610461, 32610478-32610489, 32610494-32610495, 32610499-32610504, 32610516, 32610519, 32610526, 32610534-32610535, 32610538
464HLA-DQB160.576335877862633378632629124-32629173, 32629193-32629194, 32629199, 32629223-32629234, 32629765-32629775, 32629778-32629790, 32629801-32629802, 32629809, 32629842, 32629847, 32629859, 32629955, 32632575-32632802, 32634299-32634302, 32634306, 32634341, 32634354, 32634373, 32634384
465COL11A260.9961619650738820521133139827-33139835, 33140110-33140111, 33140121, 33140134-33140140, 33140366
466SYNGAP160.93427579365079265403233388042-33388108, 33393612-33393622, 33393652-33393655, 33393666-33393667, 33393673-33393679, 33411493-33411516, 33411518-33411667
467MOCS160.990580847723718191139874690-39874707
468RUNX260.9833971902937426156645390463-45390488
469CD2AP60.999479166666671192047563641
470MUT60.9591655570350692225349409553-49409582, 49409585, 49409591, 49409609-49409616, 49409619-49409620, 49409624-49409637, 49409654-49409663, 49409678-49409679, 49416577, 49416596, 49419244, 49421432, 49421435-49421441, 49421452, 49421455-49421458, 49421463-49421465, 49423844, 49423884-49423887
471PKHD160.99836400817996201222551611524-51611527, 51611554-51611557, 51611561-51611564, 51611687, 51930812-51930818
472EYS60.98516163222046140943565098643-65098646, 65098662, 65336047-65336048, 65523274-65523278, 65523292, 65523302-65523308, 65523317-65523327, 65523337-65523340, 65523350-65523353, 65523358, 65523383-65523387, 65523411, 65523469-65523470, 65596590-65596617, 65596639-65596685, 65596695-65596703, 66005850, 66094296, 66094381-66094384, 66094387, 66204706
473LMBRD160.999383857054841162370410757
474COL9A160.9898770788141728276670972947-70972974
475RIMS160.9879897617641361507972974680-72974682, 72974702-72974736, 73108700-73108717, 73108791-73108795
476SLC17A560.995295698924737148874331569-74331575
477LCA560.996657115568297209480196728, 80196731-80196732, 80196752-80196753, 80196757, 80196761
478BCKDHB60.9609838846480146117980877416, 80881004-80881045, 80881102-80881103, 80881107
479SLC35A160.999013806706111101488210385
480PDSS260.9991666666666711200107780274
481SEC6360.9986859395532232283108204303-108204305
482FIG460.9977973568281962724110081465, 110081479, 110106209-110106212
483WISP360.9937444146559471119112389589-112389595
484LAMA260.99775712912528219363129486721-129486732, 129486805, 129635874-129635881
485ENPP160.99568034557235122778132171184, 132171187-132171190, 132203486-132203488, 132203542-132203545
486EYA460.99687561920133767856, 133769297, 133783580, 133783583-133783584, 133783770
487AHI160.9997215260373213591135759536
488PEX760.9670781893004132972137143854-137143859, 137143868-137143871, 137167215, 137167235, 137167246-137167247, 137167261-137167263, 137167272-137167278, 137167292-137167297, 137167303, 137167314
489PEX360.9973262032085631122143792110, 143792141, 143792206
490PLAGL160.999281609195411392144263537
491SYNE160.999166477229672226394152545786-152545799, 152583265-152583267, 152630990, 152716679-152716682
492PARK260.97854077253219301398161969947-161969976
493TBP60.95882352941176421020170871016, 170871019, 170871028-170871030, 170871036-170871043, 170871049-170871059, 170871069-170871085, 170871092
494LFNG70.8315789473684219211402559496-2559563, 2559577-2559588, 2559600, 2559606, 2559611-2559632, 2559645, 2559655-2559660, 2559665, 2559669, 2559677-2559679, 2559682-2559683, 2559693-2559698, 2559739-2559743, 2559751-2559772, 2559775-2559777, 2559792-2559798, 2559807-2559837
495PMS270.975666280417156325896013149-6013157, 6017321-6017327, 6026737-6026743, 6027049-6027055, 6027154-6027167, 6029455, 6042264-6042267, 6045523-6045529, 6045624-6045630
496TWIST170.7224958949096916960919156762, 19156765, 19156778-19156944
497DNAH1170.99557913351017601357221630541-21630542, 21630547, 21630558-21630560, 21630565-21630575, 21630591, 21630594, 21630615-21630626, 21630629-21630632, 21630915, 21630932-21630933, 21894052-21894073
498HOXA170.997023809523813100827135317-27135319
499HOXA1370.81576692373608215116727239264, 27239314-27239316, 27239334, 27239371-27239580
500RP970.9954954954955366633148882-33148883, 33148940
501BBS970.999249249249252266433303906, 33313562
502GLI370.999789162977021474342006018
503CCM270.9775280898876430133545039933-45039962
504KCTD770.99655172413793387066094161, 66094181-66094182
505SBDS70.9933598937583575366460277-66460281
506NCF170.930909090909095782572639983-72639989, 72643704-72643710, 72644230-72644236, 72648669-72648699, 72648746-72648750
507ELN70.998160919540234217573442551-73442554
508NCF170.9317988064791180117374191613-74191619, 74193642, 74193668, 74193715-74193721, 74202349-74202379, 74202426-74202432, 74202920, 74202998-74203022
509HSPB170.99352750809061461875932264-75932267
510CD3670.995771670190276141980302671-80302676
511HGF70.998171010516694218781399250-81399253
512AKAP970.9959911293074471172491609603-91609632, 91609638-91609647, 91630256, 91630267-91630268, 91707152-91707155
513KRIT170.998643147896883221191844044, 91863824-91863825
514PEX170.999740394600211385292130853
515COL1A270.9909778102901737410194027060-94027070, 94045717-94045724, 94049921, 94058704-94058719, 94058726
516SGCE70.997787610619473135694252671, 94252684, 94252690
517SLC26A570.9995525727069412235103017288
518RELN70.99961453213838410377103244800-103244802, 103244805
519SLC26A470.9974391805377762343107323652-107323657
520SLC26A370.9982570806100242295107432376-107432379
521IFRD170.9992625368731611356112102145
522CFTR70.9493585415262254443117188713-117188753, 117188760-117188800, 117188840-117188853, 117234984-117235112
523AASS70.99496583962603142781121769534, 121769537-121769539, 121769554-121769555, 121769574, 121769578-121769584
524IMPDH170.98888888888889201800128034956-128034975
525FLNC70.9991440449987878178128498187-128498193
526ATP6V0A470.96155370590567972523138394371-138394421, 138394423-138394461, 138394486-138394492
527BRAF70.99435028248588132301140434565-140434570, 140624406-140624412
528PRSS170.9112903225806566744142458434-142458454, 142459625-142459629, 142459676-142459682, 142460335, 142460366-142460397
529CNTNAP270.99799799799883996147869434-147869441
530KCNH270.98850574712644403480150644703, 150644742-150644743, 150644751, 150644759, 150648903-150648905, 150671855, 150671863, 150671866, 150671876, 150671901-150671904, 150671935-150671943, 150671953-150671967
531MNX170.843283582089551891206156799286-156799295, 156802652-156802760, 156802767-156802768, 156802778, 156802787, 156802790-156802796, 156802852-156802864, 156802874-156802919
532CLN880.9988385598141718611728686
533TUSC380.991404011461329104715480602, 15480639-15480646
534ASAH180.999158249158251118817928877
535ANK180.998419388830359569441530156-41530164
536HGSNAT80.996331236897277190842995698-42995704
537CHD780.998999332888599899461714114-61714117, 61714124-61714127, 61749489
538TTPA80.99880525686977183763998481
539EYA180.999437886453061177972211358
540CNGB380.9687242798353976243087588244-87588251, 87588260-87588326, 87656900
541TMEM6780.9748995983935775298894768080-94768094, 94777841-94777843, 94827548-94827549, 94828600-94828610, 94828634-94828677
542GDF680.993421052631589136897157150-97157157, 97157420
543VPS13B80.994747373686846311994100123393-100123394, 100123397-100123398, 100123403-100123409, 100123419-100123425, 100123430, 100123434, 100123448-100123450, 100123465, 100123473, 100123477, 100123491-100123493, 100146868-100146869, 100146878, 100146889, 100160069, 100443825-100443832, 100513947, 100513998, 100514001-100514010, 100514020-100514026, 100514050, 100514053
544GRHL280.9994675186368511878102631787
545KCNQ380.98739977090493332619133492747-133492779
546TG80.9998796195979318307133882071
547CYP11B180.97486772486772381512143956502-143956508, 143958572-143958602
548CYP11B280.96957671957672461512143993950-143993994, 143994029
549PLEC80.995375311277136514055144992380-144992383, 144992387, 144993594-144993596, 144993724-144993725, 144995071-144995077, 144996246-144996250, 144996257-144996260, 144996377-144996382, 144996387, 144996527-144996542, 144997746-144997753, 144998911-144998914, 144999446, 144999449, 145000023, 145007030
550GPT80.9946344735077181491145731270-145731272, 145731305-145731309
551DOCK890.9998412698412716300332438
552KCNV290.9957264957265716382718756-2718757, 2718763-2718767
553GLIS390.99713569638382827934117942, 4118028, 4118031, 4118036, 4118039-4118040, 4118046, 4118075
554JAK290.9699911738746710233995077453-5077546, 5077559, 5077562, 5077569-5077573, 5077579
555GLDC90.99967352269017130636645389
556TMC190.999561979851071228375403396
557VPS13A90.96640419947507320952579820904, 79840874, 79842380, 79842388, 79843165, 79843175-79843180, 79891013-79891049, 79896785, 79896796, 79896799-79896805, 79896807-79896813, 79896816-79896820, 79896832-79896834, 79896837-79896842, 79897074-79897099, 79897181, 79897184, 79898562, 79908411-79908424, 79910657, 79910661-79910662, 79910673-79910674, 79910679, 79910695, 79931125, 79931134, 79931180, 79931184, 79931194-79931203, 79932522-79932591, 79932597, 79932604-79932608, 79934488-79934497, 79937984, 79938090, 79946984-79946986, 79952259, 79955155-79955156, 79974316-79974317, 79996898-79996933, 79996954-79996999
558SPTLC190.999296765119551142294812340
559PTCH190.999079189686924434498231118-98231121
560FOXE190.97682709447415261122100616329, 100616337, 100616699-100616712, 100616717, 100616719, 100617051-100617058
561TGFBR190.97354497354497401512101867534-101867573
562ALG290.9968025579536441251101983951-101983954
563INVS90.9996873045653513198103054656
564FKTN90.999278499278511386108380294
565MUSK90.9996168582375512610113562943
566DFNB3190.9966960352422992724117266927-117266935
567TOR1A90.9989989989991999132586210
568SETX90.99663928304705278034135158792, 135203907-135203932
569CEL90.859973579920743182271135944583-135944589, 135945994-135946018, 135946535, 135946691, 135946708-135946991
570SURF190.996677740863793903136223285, 136223300, 136223311
571ADAMTS1390.98809523809524514284136293783-136293813, 136293829, 136293873-136293891
572COL5A190.98984955591807565517137534076-137534086, 137534095-137534139
573LHX390.96195202646816461209139090558-139090573, 139090781-139090785, 139090789, 139090802, 139090877-139090880, 139090889-139090894, 139090901-139090904, 139094807-139094808, 139094859-139094860, 139094875, 139094882-139094885
574INPP5E90.9958656330749481935139333160, 139333333-139333334, 139333340, 139333343-139333346
575NOTCH190.9993479394887857668139391875-139391877, 139391895, 139440197
576AGPAT290.9450418160095646837139571891-139571898, 139581756-139581793
577SLC34A390.96277777777778671800140127831, 140128327-140128382, 140128630-140128633, 140128643-140128648
578EHMT190.9997433923530913897140611328
579FANCBX0.999612403100781258014861692
580RPS6KA3X0.9950517318938411222320213197-20213207
581ARXX0.9869745411486122168925025356-25025358, 25031654-25031655, 25031663-25031664, 25031671-25031673, 25031781-25031786, 25031795-25031800
582RPGRX0.95403295750217159345938145370-38145372, 38145389, 38145398-38145403, 38145413-38145419, 38145442-38145448, 38145455-38145470, 38145475-38145477, 38145484-38145486, 38145492-38145494, 38145511-38145555, 38145568-38145573, 38145584-38145588, 38145592-38145606, 38145621-38145630, 38145651-38145679
583SYN1X0.997639282341835211847433811-47433815
584WASX0.99734923790594150948547213-48547216
585ARX0.9815418023887151276366765169-66765175, 66765189-66765206, 66766357-66766377, 66766380-66766384
586TAF1X0.98240056318198100568270586165-70586260, 70586269-70586272
587BRWD3X0.9946385653540429540979965023, 79991582-79991584, 80064946-80064970
588SLC6A8X0.95020964360587951908152954094-152954187, 152954227
589ABCD1X0.99374441465594142238153008473-153008486
590MECP2X0.97127588510354431497153363064-153363069, 153363072-153363078, 153363093-153363122
591USP9YY0.999217527386546766814924923-14924926, 14958367, 14958379
VariantPhase/
Zygosity
Allele freqImpactEvaluationSummary / Info
4CLEC7A-Y238*homozygous0.043Recessive
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.
2.5TGM1-V518Mhet unknown0.016Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.634 (possibly damaging), Testable gene in GeneTests with associated GeneReview
2.5SDHD-H50Rhet unknown0.008Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
2.5FLG-Q3546Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5FLG-E2976Dhet unknown0.406Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5FLG-H2507Qhet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
2.5FLG-S936Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5FLG-S761Shifthet unknown0.008Complex/Other
pathogenic
Moderate clinical importance,
uncertain
Based on other severe variants in the same gene, this variant is likely to cause ichthyosis vulgaris when homozygous or compound heterozygous with another severe variant. There is incomplete dominance, with heterozygotes generally having a very mild phenotype: some palmar hyperlinearity, keratosis pilaris and, in some cases fine scale.
2.5TGFB1-R25Phet unknown0.036Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5TGFB1-P10Lhet unknown1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5POLG-Q1236Hhet unknown0.031Complex/Other
pathogenic
Low clinical importance,
uncertain
Generally a nonpathogenic polymorphism, but may have a modifier effect that increases severity when combined in cis with other pathogenic variants.
2APOB-S4338Nhomozygous0.725Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-I4314Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-E4181Khet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-I2313Vhet unknown0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-Y1422Chomozygous0.994Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-A618Vhet unknown0.494Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-T98Ihet unknown0.149Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2CASP10-V410Ihet unknown0.031Dominant
protective
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.874 (probably damaging), Testable gene in GeneTests with associated GeneReview
2CASP10-L522Ihomozygous0.309Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2LRP5-V667Mhet unknown0.007Recessive
pathogenic
High clinical importance,
uncertain
This variant has been implicated in causing osteoporosis-pseudoglioma syndrome in a recessive manner. The gene is strongly implicated in causing the disease, but an insufficient number of controls means this variant's observation lacks statistical significance. The condition manifests in childhood with early onset osteoporosis and eye problems.
2LRP5-A1330Vhomozygous0.120Complex/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.
2TAS2R38-I296Vhomozygous0.534Unknown
benign
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.984 (probably damaging)
2TAS2R38-A49Phomozygous0.495Unknown
benign
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
2NEFL-S472ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
2PCSK9-A53Vhet unknown0.077Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2PCSK9-V474Ihet unknown0.859Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2PCSK9-G670Ehomozygous0.848Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2TP53-P72Rhomozygous0.550Unknown
pathogenic
Low clinical importance,
uncertain
This is a common variant was first reported as a polymorphism. It has since had mixed associations with cancer: Storey et al. conclude a 7x *increased* risk of HPV cancer for homozygotes vs hets, but Jones et al. find a 1.98x *decreased* risk for colorectal cancer. This variant may have significant impact on particular cancers, but it is unclear what effect it has on the overall burden of cancer.
2KCNJ11-V337Ihomozygous0.761Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2KCNJ11-K23Ehomozygous0.711Unknown
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-G483Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-L425Shomozygous0.875Unknown
pathogenic
Low clinical importance,
uncertain
This variant is associated with a slightly increased risk of tuberculosis. It is unclear whether it is itself causal, or in linkage disequilibrium with some other causal variant that has a stronger effect.
2SP110-G299Rhomozygous0.822Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-A206Vhet unknown0.142Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-W112Rhomozygous0.945Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.5CYP2A6-F392Yhomozygous0.969Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5CYP2A6-L160Hhet unknown0.017Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.045 (benign)
1.5PRNP-M129Vhet unknown0.258Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.628 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1.5ITGAM-R77Hhet unknown0.095Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.048 (benign)
1.5ITGAM-A859Vhet unknown0.136Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5ITGAM-P1147Shet unknown0.141Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5LPA-R2016Chet unknown0.180Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5LPA-I1891Mhet unknown0.068Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1.5LPA-M1679Thet unknown0.693Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5ADD1-G460Whomozygous0.232Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
1.5ADD1-S617Chomozygous0.334Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5BARD1-C557Shet unknown0.016Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.464 (possibly damaging)
1.5BARD1-V507Mhet unknown0.347Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.032 (benign)
1.5BARD1-R378Shet unknown0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
1SIX5-P635Shomozygous0.533Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview
1SIX5-L556Vhomozygous0.833Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ZNF167-N494ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1INSR-A2GhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
1KCP-D621Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KCP-K395Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KCP-H313ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KCP-A16ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PPARG-P12Ahet unknown0.051Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.979 (probably damaging), Testable gene in GeneTests
1GATSL1-N17KhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1CMA1-H66Rhomozygous0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.963 (probably damaging)
1HTT-Y2309Hhomozygous0.459Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HTT-V2786Ihomozygous0.193Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TCEAL6-Q175Shifthomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
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
1NPC1-W1122Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1NPC1-I858Vhet unknown0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.061 (benign), Testable gene in GeneTests with associated GeneReview
1NPC1-M642Ihet unknown0.863Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NPC1-H215Rhet unknown0.222Complex/Other
protective
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.
1KCNH2-K897Thet unknown0.098Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
1PAX3-T315Khet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PADI6-V343Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
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)
1PLEKHA2-P389Shifthomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TTN-A19840PhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-T18432Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-K11752Ehet unknown0.056Unknown
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
1TTN-V498Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1BC112980-K147ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1DGKK-L1014ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ATG9B-A765ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1HSH2D-S223Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1HLA-H-P32Qhomozygous0.060Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-H-E34MhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-H-C238Shomozygous0.729Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1WDR12-I75Vhomozygous0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1C19orf55-A325Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1C19orf55-K365Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1C19orf55-G398ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1DNAH11-E34Lhet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1DNAH11-T400Ihet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1DNAH11-A568Thet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1DNAH11-V2525IhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1DNAH11-N2641Shomozygous0.367Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1DNAH11-V3715Lhomozygous0.452Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1DNAH11-M4172Vhomozygous0.334Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1DNAH11-T4177Ihomozygous0.359Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1RDH12-R161Qhet unknown0.076Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.941 (probably damaging), Testable gene in GeneTests with associated GeneReview
1TNXB-R48PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-L8Mhomozygous0.457Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-F41Shomozygous0.544Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q57Ehomozygous0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-A68VhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-R87Thomozygous0.170Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-M89Ihomozygous0.200Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-A92Lhomozygous0.151Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Y103Shomozygous0.544Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q152Hhomozygous0.526Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-A183Dhet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q198Ehomozygous0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1AX746964-G175Shifthomozygous0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1AX746964-K166Ihomozygous0.628Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZFPM1-E444ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZFPM1-L446ShifthomozygousUnknown
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
1FLT4-R1324Lhomozygous0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FLT4-H890Qhomozygous0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.714 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1FLT4-T494Ahomozygous0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
1MTHFR-E429Ahomozygous0.243Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.099 (benign), Testable gene in GeneTests
1NPRL3-L489Shifthomozygous0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
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
1DSP-I305Fhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.912 (probably damaging), Testable gene in GeneTests with associated GeneReview
1DSP-R1738Qhet unknown0.236Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.295 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1PKD1-I4045Vhet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PKD1-F3066Lhet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview
1PKD1-H2638Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PKD1-T2582Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PKD1-R2163Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PKD1-Q2067Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PKD1-W1399Rhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.031 (benign), Testable gene in GeneTests with associated GeneReview
1PKD1-R739Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
1CYBA-V174Ahet unknown0.417Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1CYBA-Y72Hhomozygous0.649Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ALDH7A1-K439Qhomozygous0.072Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1KRT16-R41Chet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.928 (probably damaging), Testable gene in GeneTests with associated GeneReview
1AX746903-T82ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SYNE1-G8323Ahet unknown0.310Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
1SYNE1-F7302Vhomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SYNE1-L5015Mhet unknown0.866Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SYNE1-S4596Thet unknown0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SYNE1-K4121Rhet unknown0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SYNE1-E4060Dhet unknown0.539Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
1SYNE1-R3533Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SYNE1-A2795Vhet unknown0.260Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
1SYNE1-K2559Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SYNE1-N1915Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1SYNE1-V1035Ahet unknown0.632Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.673 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1RAB40A-H45Lhomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.907 (probably damaging)
1KRT10-H487YhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1KRT10-G126Shet unknown0.109Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1KRT10-I101Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1TJP1-D1347Ahomozygous0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
1PIK3R6-L609ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ELAC2-S217Lhet unknown0.209Complex/Other
pathogenic
Low clinical importance,
uncertain
Reported to be associated with increased susceptibility to prostate cancer, but later studies weaken the hypothesis. Xu et al.'s meta-analysis concludes that there is a small but significant increased risk (OR = 1.13). Assuming a lifetime risk of 16% for prostate cancer we calculate this leads to an increased risk of ~1.5% (17.5% total).
1H2BFM-Q73*homozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1SEBOX-L207Shomozygous0.913Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SEBOX-W10ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1C17orf103-V41IhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1C17orf103-C16ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SUMF1-S63Nhomozygous0.088Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
1BAG3-C151Rhomozygous0.065Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1RNASEL-D541Ehet unknown0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1RNASEL-R462Qhet unknown0.208Complex/Other
pathogenic
Low clinical importance,
uncertain
Associated with increased risk of prostate cancer in individuals who already have a family history of prostate cancer, but studies have been unable to replicate this finding in sporadic (non-familial) prostate cancer cases.
1TRIM64-R162ShomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1TRIM64-V238MhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-E242VhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-Q358RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-Q405RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1ZNF480-C3ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF480-P177Shet unknown0.161Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.486 (possibly damaging)
1ZNF761-L47ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF761-I122ShomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF761-V168IhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF761-G528ShomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF761-E603QhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1CYP1B1-V432Lhomozygous0.547Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CYP1B1-A119Shomozygous0.080Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CYP1B1-R48Ghomozygous0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1AK094748-D110Ahomozygous0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1AK094748-S209Shifthomozygous0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1LRRK2-R50Hhomozygous0.927Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1LRRK2-I723Vhomozygous0.057Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1LRRK2-S1647Thet unknown0.294Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1LRRK2-M2397Thet unknown0.526Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SCARF2-A832Ghet 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
1CHIT1-A442Ghet unknown0.092Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1CHIT1-V357V*het unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation, Testable gene in GeneTests
1CHIT1-G102Shet unknown0.268Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.057 (benign), Testable gene in GeneTests
1ALG12-I393Vhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.939 (probably damaging), Testable gene in GeneTests with associated GeneReview
1B3GNT6-A191Thet unknown0.130Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1B3GNT6-L316ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1B3GNT6-L335ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
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
1COL18A1-T379Mhet unknown0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.969 (probably damaging), Testable gene in GeneTests
1COL18A1-A404Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1COL18A1-PGP1362DelhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1F5-Q534Rhomozygous0.991Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1KCNJ10-R271Chet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.96 (probably damaging), Testable gene in GeneTests
1SEPN1-C108Yhomozygous0.789Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SEPN1-N467KhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1KRTAP7-1-Y17ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1HADHB-T2TThomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1KRT4-G160GAGGFGAGFGTGGFGhomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1DPYD-I543Vhet unknown0.199Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1DPYD-R29Chomozygous0.731Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ACPT-P95Lhomozygous0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.75AURKA-I57Vhomozygous0.814Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75AURKA-F31Ihet unknown0.366Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75BLMH-I443Vhet unknown0.241Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CDH23-F284Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.75CDH23-S494Nhet unknown0.273Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75CDH23-N1349Dhomozygous0.772Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75CDH23-A1572Thomozygous0.720Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75CDH23-R1801Qhet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75CDH23-N1880Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75CDH23-T1996Shet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75CDH23-E2041Khet unknown0.344Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75CDH23-R2355Qhet unknown0.349Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75CDH23-P2377Lhet unknown0.338Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75DYX1C1-E417*het unknown0.354Unknown
pathogenic
Low clinical importance,
uncertain
One study reports this variant to be associated with dyslexia. The study group was relatively small and so the results did not have strong significance. If they are representative this variant is associated with a doubled risk for dyslexia, but it is unclear whether the effect would be additive, dominant, or recessive.
0.75DYX1C1-E191Ghet unknown0.507Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.249 (possibly damaging)
0.75BANK1-R61Hhet unknown0.221Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75BANK1-A383Thet unknown0.233Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.778 (possibly damaging)
0.75BANK1-C650Rhomozygous0.990Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-G1166Shomozygous0.766Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-Q979Rhomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-K575Ehomozygous0.974Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-I395Thet unknown0.491Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CHRNA5-D398Nhet unknown0.158Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5CHAT-A120Thet unknown0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.5CHAT-V461Mhomozygous0.927Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL9A1-Q621Rhomozygous0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL9A1-S339Phet unknown0.507Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PDE7B-H217Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5PNRC1-P39Shet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.979 (probably damaging)
0.5EYS-R2326Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-N1902Ihet unknown0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-L852Phomozygous0.655Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-T120Mhomozygous0.165Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RSPH4A-T149Shet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.5RSPH4A-L589Phomozygous0.707Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RSPH4A-N627Hhet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5CUBN-S2717Whomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-C2162Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P1559Shomozygous0.565Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P389Thomozygous0.513Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-F253Shet unknown0.801Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CASP8AP2-T1567Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CASP8AP2-S1568Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NEBL-T792Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NEBL-D378Hhet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.5NEBL-M351Vhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5LCA5-L24Shomozygous0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5AIM1-Q293Phet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AIM1-C491Rhet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.091 (benign)
0.5AIM1-E1196Ahomozygous0.935Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0.5AIM1-C1395Yhet unknown0.243Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.958 (probably damaging)
0.5FAM26F-T100Ahet unknown0.614Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAM26F-E293Khet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.855 (probably damaging)
0.5PTCHD3-*768Qhet unknown0.570Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-I584Mhomozygous0.963Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-M521Thet unknown0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-D473Ghet unknown0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.849 (possibly damaging)
0.5PTCHD3-C407Ghet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5PTCHD3-S309Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PTCHD3-L152Phet unknown0.225Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.5CAPN11-I145Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CAPN11-V266Mhet unknown0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.013 (benign)
0.5NRAP-R1566Chomozygous0.348Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.853 (probably damaging)
0.5NRAP-L1531Phet unknown0.079Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.928 (probably damaging)
0.5NRAP-R884Chet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.97 (probably damaging)
0.5NRAP-N519Ihet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.974 (probably damaging)
0.5NRAP-S490Lhet unknown0.294Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.092 (benign)
0.5NRAP-Q360Rhet unknown0.544Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NRAP-A344Thet unknown0.546Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NRAP-A282Thet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NRAP-Y249Chet unknown0.215Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5NRAP-V208Ahomozygous0.914Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HSPA1L-T493Mhomozygous0.868Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5MYOF-R1783Qhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5TNXB-G2518Ehomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-R1255Hhet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-H1161Rhomozygous0.568Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-C-T363Ahomozygous0.727Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-C-C350Shomozygous0.730Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.009 (benign)
0.5HLA-C-S297Rhomozygous0.605Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-C-Q291Phomozygous0.605Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-C-M285Vhomozygous0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-C-Q277Ehomozygous0.769Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-C-E201Khet unknown0.064Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-C-R155Shet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5HLA-C-S140Fhet unknown0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HLA-C-D138Nhet unknown0.184Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-C-S123Yhomozygous0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-C-R121Whet unknown0.105Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.014 (benign)
0.5HLA-C-N104Khomozygous0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.09 (benign)
0.5HLA-C-S101Nhomozygous0.333Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PLCE1-S469Thet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
0.5PLCE1-R1575Phet unknown0.517Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PLCE1-T1777Ihet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PLCE1-H1927Rhet unknown0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.5AX746750-S137Shifthet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ABCC2-Y39Fhomozygous0.990Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PSORS1C2-P94Shifthet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PSORS1C2-L83Phomozygous0.936Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HABP2-T50Mhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SFTPA2-T9Nhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5HLA-DQB1-A172Thet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-D167Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-G157Ahomozygous0.539Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-G45Ahet unknown0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-F41Yhomozygous0.789Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-A23Shet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-D12Ghomozygous0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-L1870Vhomozygous0.905Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-A1262Vhet unknown0.239Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-R760Chet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IL17F-E126Ghet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5INSC-D333Nhet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging)
0.5EFHC1-R159Whet unknown0.092Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.057 (benign), Testable gene in GeneTests
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
0.5CUL7-Q813Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A2-E276Khomozygous0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.651 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5USP49-D636Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PRPH2-D338Ghomozygous0.761Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRPH2-R310Khomozygous0.943Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRPH2-Q304Ehomozygous0.877Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-R18Ghet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-S158Fhomozygous0.453Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-V239Ihomozygous0.771Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-I326Vhomozygous0.824Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5OPTN-K322Ehomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LRP11-P92Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
0.5MCPH1-R171Shomozygous0.865Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D314Hhomozygous0.648Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D392Ghomozygous0.979Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-A761Vhomozygous0.504Unknown
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-R364Hhomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NAT1-V211Ihet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5NAT1-S276Ahet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NAT2-I114Thet unknown0.220Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NAT2-R268Khomozygous0.675Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABCB8-R304Chet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ABCB8-G710Vhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CDK5RAP2-V1540Lhet unknown0.714Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-R1045Thet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-G1022Ehet unknown0.057Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-E289Qhomozygous0.801Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF282-R670Qhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5EIF3F-P39Lhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5POMT1-D411Ehet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CEP110-F1025Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CEP110-R1027Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SFTPC-T138Nhomozygous0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SFTPC-S186Nhomozygous0.222Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IKBKAP-P1158Lhomozygous0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IKBKAP-C1072Shomozygous0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NCRNA00255-P39Shifthet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
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-E2458EVQEhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
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-R706Qhet unknown0.016Unknown
not reviewed
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
0.5GPT-H14Nhomozygous0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RECQL4-R1005Qhomozygous0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RECQL4-R766Shifthomozygous0.278Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests with associated GeneReview
0.5RECQL4-E267Dhet unknown0.471Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RECQL4-S92Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CNGB3-E755Ghet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview
0.5CNGB3-T298Phet unknown0.681Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview
0.5CNGB3-C234Whomozygous0.939Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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
0.5BAAT-R20Qhomozygous0.569Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.136 (benign), Testable gene in GeneTests
0.5ROR2-V819Ihomozygous0.798Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ROR2-T245Ahomozygous0.619Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CHRNA2-T125Ahomozygous0.644Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LY96-R56Ghomozygous0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LY96-P157Shet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.909 (probably damaging)
0.5GGH-A31Thet unknown0.198Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GGH-C6Rhet unknown0.088Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CLCN1-G118Whomozygous0.995Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CLCN1-R300Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CLCN1-P727Lhet unknown0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZBED5-Q47Rhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ZBED5-A17Vhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ECHDC3-R20Chet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging)
0.5ECHDC3-A69Thomozygous0.836Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ECHDC3-A151Thomozygous0.873Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IDI1-G12Ahet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TXNDC3-C208Rhomozygous0.740Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TXNDC3-I493Thomozygous0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.074 (benign), Testable gene in GeneTests with associated GeneReview
0.5IDI2-W144*het unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5HOXA1-R73Hhomozygous0.743Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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
0.5CDNF-W154Shet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5SLC22A1-L160Fhomozygous0.892Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC22A1-P341Lhet unknown0.082Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.979 (probably damaging)
0.5SLC22A1-M408Vhomozygous0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PARK2-V380Lhomozygous0.169Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FRMD1-Q456Ehomozygous0.890Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FRMD1-H383Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.742 (possibly damaging)
0.5FRMD1-G150Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.907 (probably damaging)
0.5DOCK8-A22Vhomozygous0.291Unknown
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-N413Shet unknown0.193Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.19 (benign), 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
0.5NR_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
0.5GLI3-S1028Ihet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5GLI3-T183Ahomozygous0.663Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADAMTS13-A900Vhet unknown0.082Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SERPINE1-A15Thet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.5DMBT1-P42Thomozygous0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.941 (probably damaging)
0.5DMBT1-S54Lhomozygous0.692Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.84 (possibly damaging)
0.5DMBT1-H1084Yhet unknown0.050Unknown
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: 3
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
0.5COL1A2-P549Ahomozygous0.907Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL1A2-V1312Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AKAP9-E170Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AKAP9-M463Ihet unknown0.376Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AKAP9-K1335KQhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AKAP9-K2484Rhet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AKAP9-N2792Shet unknown0.271Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AKAP9-P2979Shomozygous0.997Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, 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
0.5RASSF10-Q302Hhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5DDC-M17Vhomozygous0.979Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCB1-S893Ahomozygous0.625Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TBL2-E8Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.92 (probably damaging)
0.5OSMR-H187Qhet unknown0.087Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.117 (benign)
0.5OSMR-G578Dhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
0.5NCRNA00243-R77*het unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5SULT6B1-L112Fhomozygous0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SULT6B1-K50Ehet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SULT6B1-V37Dhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SULT6B1-A23Thet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ATP6V1B1-M1Thet unknown0.371Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ATP6V1B1-E161Khet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ALMS1-R392Chet unknown0.409Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-S524SPhet unknown0.578Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-V671Ghomozygous0.857Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-G1414Ahet unknown0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-I1875Vhet unknown0.405Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-I2070Thet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-S2100Lhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-S2111Rhet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R2284Phet unknown0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R2826Shet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-N2856Shet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R4029Khet unknown0.527Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EIF2AK3-A704Shomozygous0.756Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EIF2AK3-Q166Rhomozygous0.690Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MOGS-V62Mhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.018 (benign), Testable gene in GeneTests with associated GeneReview
0.5ALK-I1461Vhomozygous0.982Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5C2orf71-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
0.5LEFTY2-P286Lhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5EDARADD-M9Ihomozygous0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EDARADD-S103Fhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CEP170-N924Khet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5CEP170-Q253Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CEP170-G213Shomozygous0.898Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OTOF-R1853Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.155 (benign), Testable gene in GeneTests with associated GeneReview
0.5OTOF-R82Chomozygous0.229Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5TPO-A257Shet unknown0.387Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TPO-A373Shomozygous0.188Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5TPO-S398Thomozygous0.684Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.988 (probably damaging), Testable gene in GeneTests
0.5MERTK-S118Nhet unknown0.138Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MERTK-R466Khomozygous0.550Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MERTK-I518Vhomozygous0.550Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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
0.5COL3A1-H1353Qhomozygous0.990Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CASP8-K14Rhomozygous0.640Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ALS2-V368Mhomozygous0.869Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CPS1-R238Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CPS1-T344Ahomozygous0.583Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5CPS1-T1406Nhomozygous0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CTLA4-T17Ahomozygous0.463Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5NEUROD1-T45Ahomozygous0.754Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DFNB59-R265Chet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.962 (probably damaging), Testable gene in GeneTests
0.5DFNB59-R265Chet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.962 (probably damaging), Testable gene in GeneTests
0.5LCT-N1639Shomozygous0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LCT-I362Vhomozygous0.944Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CFC1-W78Rhomozygous0.966Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NEB-I6534Vhet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-A6277Phet unknown0.691Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-R4389Thet unknown0.724Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-M3461Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-W3348Chet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-S2912Phet unknown0.526Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-K2613Nhomozygous0.138Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-V1491Mhomozygous0.453Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-Y1301Hhomozygous0.668Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-K1027Nhet unknown0.476Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN1A-A1056Thomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRP2-I4210Lhomozygous0.462Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5LRP2-K4094Ehomozygous0.744Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LRP2-N83Shet unknown0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5ABCB11-V444Ahomozygous0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5LBR-S154Nhomozygous0.713Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RAB3GAP2-S1092Thet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.924 (probably damaging)
0.5KIAA0467-R834Hhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging)
0.5KIAA0467-T1827Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.027 (benign)
0.5MAST2-D388Ehomozygous0.882Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MAST2-I659Mhomozygous0.482Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.033 (benign)
0.5MAST2-D1551Ghet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging)
0.5POMGNT1-M623Vhomozygous0.878Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CPT2-V368Ihet unknown0.477Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CPT2-M647Vhet unknown0.093Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5STIL-H985Rhet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.648 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5STIL-A86Vhomozygous0.633Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL9A2-L335Vhet unknown0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GJB4-V52Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5CLCNKB-R27Lhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-A214Ghomozygous0.815Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-A287Vhomozygous0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-M562Thomozygous0.856Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-K578Ehomozygous0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKA-R83Ghomozygous0.653Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKA-A447Thomozygous0.688Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ARHGEF19-P460Lhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5ARHGEF19-E238Qhet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.045 (benign)
0.5ARHGEF19-G163Rhet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.186 (benign)
0.5SPATA21-K361KKhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SPATA21-V255Lhet unknown0.238Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SPATA21-P119Lhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5HSPG2-V4332Ihet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-A1503Vhomozygous0.777Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-N765Shomozygous0.896Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-M638Vhomozygous0.978Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ALDH4A1-V470Ihet unknown0.054Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests
0.5INADL-E362Ahet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.96 (probably damaging)
0.5INADL-I870Mhomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5INADL-G1178Shomozygous0.405Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5INADL-R1282Hhet unknown0.497Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.5INADL-V1360Lhet unknown0.563Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIAA1107-T993Nhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIAA1107-F1028Vhet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5HMCN1-I2418Thomozygous0.553Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests
0.5HMCN1-E2893Ghomozygous0.617Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.91 (probably damaging), Testable gene in GeneTests
0.5HMCN1-Q4437Rhet unknown0.547Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.5ASPM-Y2494Hhomozygous0.992Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CACNA1S-L458Hhet unknownUnknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-R2875Qhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.077 (benign), Testable gene in GeneTests with associated GeneReview
0.5USH2A-I2169Thet unknown0.575Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-I2106Thet unknown0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-I1665Thet unknown0.052Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.3 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5USH2A-R1486Khet unknown0.646Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview
0.5USH2A-V230Mhet unknown0.008Recessive
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5USH2A-A125Thomozygous0.777Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PTPN7-R37Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
0.5IER5-R92Hhet unknown0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IER5-V168Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5IER5-R194Ghet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5IER5-Q202RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5IER5-P285Shet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5IER5-S297Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CEP350-R77Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CEP350-R892Thet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.987 (probably damaging)
0.5CEP350-E945Qhet unknown0.586Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.168 (benign)
0.5CEP350-K2968Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PTPN22-W620Rhomozygous0.970Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL11A1-S1547Phet unknown0.752Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-H122Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-D46Ehet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SEC22B-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
0.5PI4KB-F386Shifthet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5S100A7A-R23Hhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.922 (probably damaging)
0.5S100A7A-A84Thet unknown0.247Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RFX5-P409Rhet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.237 (possibly damaging)
0.5ABCA12-S777Thomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATIC-T116Shomozygous0.184Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5IL7R-I66Thet unknown0.597Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IL7R-V138Ihet unknown0.689Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IL7R-I356Vhet unknown0.214Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5BDP1-D38Ehomozygous0.755Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BDP1-R757Chomozygous0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BDP1-I1264Mhomozygous0.794Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BDP1-V1347Mhomozygous0.808Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BDP1-Q1676Ehet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.937 (probably damaging)
0.5BDP1-I2013Lhomozygous0.824Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HEXB-L62Shomozygous0.978Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GPR98-E5344Ghomozygous0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-V5427Mhomozygous0.918Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-V5876Ihet unknown0.424Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.94 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5AP3B1-K804Delhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AP3B1-V585Ehomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-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-I766Lhet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.026 (benign), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-H12Qhet unknown0.896Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SDHA-E72Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SDHA-S45Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ENPEP-Q213Rhomozygous0.875Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ENPEP-V218Ahet unknown0.608Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ENPEP-W413*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation
0.5CFI-T300Ahomozygous0.957Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BBS12-R386Qhet unknown0.515Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.5BBS12-D467Nhet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR3C2-V180Ihomozygous0.883Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AGA-T149Shomozygous0.925Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FNIP2-S96Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5FNIP2-V98Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5FNIP2-T298Shet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.021 (benign)
0.5FNIP2-S551Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.5ERAP2-K392Nhet unknown0.540Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ERAP2-N501Shifthet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5APC-V1822Dhomozygous0.887Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5F12-A207Phomozygous0.951Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PDLIM7-A40Vhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.871 (probably damaging)
0.5PROP1-N20Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALDH5A1-H180Yhomozygous0.334Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NHLRC1-P111Lhet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5MSX2-M129Thomozygous0.716Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KIF4B-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-R1029Hhet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.043 (benign)
0.5IL13-Q144Rhomozygous0.766Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FBN2-S2580Lhet unknown0.091Dominant
benign
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-V277Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SHROOM1-P180Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.976 (probably damaging)
0.5FBXL21-N31Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5FBXL21-L45Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5FBXL21-P208Lhet unknown0.812Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC26A2-I574Thomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SH3TC2-G171Ehet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.063 (benign), 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
0.5MANBA-V828Ihet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.968 (probably damaging), Testable gene in GeneTests
0.5MANBA-T701Mhomozygous0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMT-E211Khet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5IQCF1-R114Qhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5GBE1-I334Vhomozygous0.979Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GBE1-R190Ghet unknown0.321Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.025 (benign), Testable gene in GeneTests with associated GeneReview
0.5CASR-E1011Qhomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HGD-Q80Hhomozygous0.742Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN5A-H558Rhet unknown0.215Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5XPC-Q939Khomozygous0.683Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5XPC-A499Vhet unknown0.188Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-G43Rhet unknown0.239Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-L141Phomozygous0.760Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-E162Ghomozygous0.764Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-P574Lhomozygous0.358Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-R1767Qhet unknown0.491Unknown
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
0.5TRPM8-R247Thet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.926 (probably damaging)
0.5TRPM8-Y251Chet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5TRPM8-S419Nhet unknown0.379Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL6A3-T3069Ihet unknown0.364Unknown
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-M2927Thet unknown0.674Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-L411Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TSEN2-R126Hhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AGXT-I340Mhet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCCC1-H464Phomozygous0.408Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HTR3E-E22Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5HTR3E-A86Thomozygous0.769Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LPHN3-T659Ahet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.865 (probably damaging)
0.5UGT2B15-K523ThomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5UGT2B15-Y85Dhomozygous0.500Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AMBN-L354Phet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.984 (probably damaging)
0.5ADH1B-H48Rhomozygous0.678Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AGPAT9-R386Khet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5WFS1-A326Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WFS1-V333Ihet unknown0.889Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WFS1-R611Hhet unknown0.442Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5EVC-D184Nhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
0.5EVC-Y258Hhomozygous0.721Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5EVC-T449Khomozygous0.871Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EVC-R576Qhet unknown0.274Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.5CCDC50-L121Fhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.834 (possibly damaging), Testable gene in GeneTests
0.5CCDC50-M332Thet unknown0.661Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5VWA5B2-G90Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5VWA5B2-P200Shet unknown0.205Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWA5B2-A429Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CPN2-V536Mhet unknown0.262Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.5POLN-Q121Hhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5LYAR-H265Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LYAR-D151Nhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.45 (possibly damaging)
0.5DOK7-R38Ghet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DOK7-R38Ghet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KIAA1462-S1002Thet unknown0.230Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.474 (possibly damaging)
0.5KIAA1462-R957Ghet unknown0.344Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.109 (benign)
0.5KIAA1462-E24Khet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5OCA2-R419Qhet unknown0.023Unknown
benign
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5SCN4A-N1376Dhomozygous0.604Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN4A-S524Ghomozygous0.938Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ARSG-R398Whet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5DNAI2-A558Thomozygous0.674Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ITGB4-L1779Phomozygous0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TSEN54-P7PEPhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TSEN54-E4Dhet unknown0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TSEN54-I137Lhet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.846 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5TSEN54-K347Nhet unknown0.430Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.968 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5TSEN54-A437Vhet unknown0.515Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5TSEN54-P483Ahet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5AP1S2-T35Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AP1S2-R29Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RNF43-L418Mhet unknown0.410Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.06 (benign)
0.5RNF43-R343Hhet unknown0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5RNF43-I47Vhet unknown0.359Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5UNC45B-I852Nhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5KRT14-C63Yhomozygous0.976Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MAPT-P202Lhet unknown0.108Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5MAPT-D285Nhet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview
0.5MAPT-V289Ahet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MAPT-R370Whet unknown0.116Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5MAPT-Y441Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MAPT-S447Phet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL1A1-T1075Ahomozygous0.961Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NPEPPS-M241Thet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5ACOX1-I312Mhomozygous0.492Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TMC6-P502Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5KISS1R-L364Hhomozygous0.875Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NDUFS7-P23Lhomozygous0.437Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5ZFR2-A577Thet unknown0.391Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5ZFR2-P235Lhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5ZFR2-V210Lhet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.55 (possibly damaging)
0.5ZFR2-S164Lhet unknown0.387Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.011 (benign)
0.5ZFR2-G58Shet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.933 (probably damaging)
0.5OR7E24-I64Vhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.907 (probably damaging)
0.5OR7E24-P242Shet unknown0.573Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5CTDP1-S61Ahet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CTDP1-T340Mhet unknown0.085Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5TNFRSF11A-H141Yhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.909 (probably damaging), Testable gene in GeneTests
0.5TNFRSF11A-A192Vhomozygous0.625Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZNF750-P288Lhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.984 (probably damaging)
0.5ZNF750-M235Vhet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.5GAA-H199Rhomozygous0.574Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GAA-R223Hhomozygous0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GAA-V780Ihomozygous0.720Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KIAA0802-M242Thet unknown0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIAA0802-Q501Rhet unknown0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.5KIAA0802-G778Shet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.658 (possibly damaging)
0.5LAMA3-N2815Khomozygous0.130Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LAMA3-S2834Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP8B1-A1152Thomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DSG2-R773Khomozygous0.221Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5RAI1-G90Ahet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RAI1-P165Thet unknown0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5ABCC8-A1369Shomozygous0.755Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5APH1B-T27Ihet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5APH1B-F217Lhet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.865 (probably damaging)
0.5NR2E3-E140Ghet unknown0.093Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NR2E3-M163Thet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NR2E3-T318Shifthomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.5HEXA-I436Vhomozygous0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ETFA-P258Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ETFA-T171Ihet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5BBS4-I354Thomozygous0.399Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYO5C-S545Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MYO5C-R172Chet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging)
0.5FBN1-C472Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TRPM1-V1395Ihet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TRPM1-S32Nhomozygous0.786Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TRPM1-M1Thomozygous0.898Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HERC2-P2238Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HERC2-Q1689Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HERC2-R1211Chet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ARHGAP11A-S285Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ARHGAP11A-V410Ihet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.325 (possibly damaging)
0.5ARHGAP11A-I884Vhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AVEN-E243Ahet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.924 (probably damaging)
0.5AVEN-GGGG42Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5DUOX2-S1067Lhet unknown0.662Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DUOX2-P982Ahet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DUOX2-R701Qhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DUOX2-H678Rhet unknown0.195Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5STRC-Q84Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PDE8A-L55Vhet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5FANCI-A86Vhomozygous0.219Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCI-C742Shomozygous0.234Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GCSH-S21Lhomozygous0.750Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRC50-K393Rhomozygous0.321Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.683 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5LRRC50-P502Lhomozygous0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5LRRC50-T590Mhet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.011 (benign), Testable gene in GeneTests with associated GeneReview
0.5LRRC50-L633Shomozygous0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRC50-L659Phomozygous0.352Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRC50-S675Thomozygous0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5CTNS-T260Ihomozygous0.825Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CTNS-P380Ahet unknown0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CHRNB1-E32Ghomozygous0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.288 (possibly damaging), Testable gene in GeneTests with associated GeneReview
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-V939Mhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5NLRP1-L155Hhomozygous0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.064 (benign)
0.5CNTNAP4-L251Vhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CNTNAP4-Q713Rhomozygous0.826Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CNGB1-V952Mhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CNGB1-K911Rhet unknown0.054Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CNGB1-L745Ihet unknown0.091Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CNGB1-V535Ahet unknown0.071Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CNGB1-R100Hhomozygous0.744Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CD19-L174Vhomozygous0.876Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-R1268Qhet unknown0.142Unknown
pharmacogenetic
Low clinical importance,
uncertain
This common polymorphism appears to not have a significant phenotypic impact. A few studies report weak but significant associations with plasma lipids (in Inuits) and thalidomide toxicity.
0.5ABCC6-M848Vhomozygous0.954Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SEPT1-G80Vhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.946 (probably damaging)
0.5SALL1-V1275Ihomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CCDC135-D51Nhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.927 (probably damaging)
0.5CCDC135-C186Shet unknown0.321Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CCDC135-P433Lhet unknown0.199Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CCDC135-C766Rhet unknown0.437Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GPR56-S281Rhomozygous0.750Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TSPAN16-S233Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PRKCSH-A291Thet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5YBEY-R150Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
0.5PCNT-H237Qhet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.088 (benign), Testable gene in GeneTests
0.5PCNT-G704Ehomozygous0.855Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-V1038Ahomozygous0.847Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-I1639Vhet unknown0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-N1841Shet unknown0.221Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-R1953Hhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.014 (benign), Testable gene in GeneTests
0.5PCNT-L2097Phet unknown0.262Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5PCNT-H2125Phet unknown0.310Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-M2188Rhet unknown0.186Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-W2239Rhet unknown0.210Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5PCNT-P2274Lhet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.5PCNT-Q2361Rhet unknown0.262Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.5PCNT-P2377Lhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.5PCNT-A2549Thet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.009 (benign), Testable gene in GeneTests
0.5PCNT-Q2659Hhet unknown0.572Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.849 (possibly damaging), Testable gene in GeneTests
0.5PCNT-R2753Hhet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5PCNT-Q2792Rhomozygous0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.5PCNT-R3245Shet unknown0.273Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.657 (possibly damaging), Testable gene in GeneTests
0.5PRODH-R521Qhomozygous0.887Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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-P19Qhomozygous0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HPS4-Q620Hhomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5HPS4-H601Yhomozygous0.807Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-V547Mhomozygous0.780Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-L438Vhet unknown0.344Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-E224Ghomozygous0.779Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR_027052-R29Hhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_027052-T53Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NR_027052-Y63Nhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5FTCD-A438Vhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FTCD-E128Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL6A2-S399Nhomozygous0.727Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A2-R680Hhet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5TPTE-K386Ehomozygous0.997Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TPTE-R229*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5TPTE-R222Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5KCNQ2-N780Thomozygous0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CLDN14-Y62Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLDN14-L41Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5ITGB2-Q354Hhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.543 (possibly damaging), Testable gene in GeneTests
0.5COL6A2-A68Vhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A1-R850Hhomozygous0.264Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCM5-T180Shet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5MFNG-R302Chet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5SLC16A2-S107Phomozygous0.444Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATRX-Q929Ehomozygous0.565Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP7A-E1350Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OPN1LW-L153Mhomozygous0.182Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OPN1LW-S180Ahomozygous0.229Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5F9-T194Ahomozygous0.144Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5DMD-R2937Qhomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMD-D882Ghomozygous0.727Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KAL1-V534Ihomozygous0.543Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BAIAP2L2-P407Shet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.852 (probably damaging)
0.5TRIOBP-S217Nhomozygous0.413Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests
0.5TRIOBP-T715Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TRIOBP-N863Khomozygous0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.5TRIOBP-F1187Lhomozygous0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests
0.5TRIOBP-H1300Rhomozygous0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.5TRIOBP-W1377Rhomozygous0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.084 (benign), Testable gene in GeneTests
0.5FAM83F-R436Ghet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.939 (probably damaging)
0.5PNPLA5-W286Rhet unknown0.512Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.5PNPLA5-T218Ihet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.979 (probably damaging)
0.5PNPLA5-T200Ihet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5PNPLA5-L140Fhet unknown0.253Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5ARSE-G424Shomozygous0.543Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5ARSA-T391Shomozygous0.423Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LAMA5-R3079Whomozygous0.655Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LAMA5-P3075Lhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5LAMA5-V1900Mhet unknown0.674Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LAMA5-F1807Shet unknown0.895Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LAMA5-K1367Ehet unknown0.912Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LAMA5-M1258Thet unknown0.807Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LAMA5-L1099Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LAMA5-T956Ahet unknown1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LAMA5-T401Ahomozygous0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.184 (benign)
0.5LAMA5-P317Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5FAM65C-L580Phet unknown0.754Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAM65C-C566Shet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.881 (probably damaging)
0.5CYP2B6-Q172Hhet unknown0.295Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.009 (benign)
0.5CYP2B6-K262Rhet unknown0.298Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP2B6-R487Chet unknown0.074Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5BCKDHA-P39Hhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF224-M118Vhomozygous0.793Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF224-H162Lhomozygous0.780Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.262 (possibly damaging)
0.5ZNF224-V208Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZNF224-K640Ehomozygous0.593Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PNMAL2-A599Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5PNMAL2-G163Shet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.929 (probably damaging)
0.5PNMAL2-G163Shet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.929 (probably damaging)
0.5ERCC2-K751Qhet unknown0.218Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ERCC2-D312Nhet unknown0.145Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.032 (benign), Testable gene in GeneTests with associated GeneReview
0.5PRX-G1132Rhomozygous0.978Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-V882Ahet unknown0.493Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview
0.5ZNF793-I68Mhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5NOTCH3-A2223Vhomozygous0.553Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYCE2-H89Yhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5CYP4F2-V433Mhomozygous0.216Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.309 (possibly damaging)
0.5CYP4F2-W12Ghet unknown0.058Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5CPAMD8-Q1890Rhet unknown0.201Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CPAMD8-T1315Ihomozygous0.698Unknown
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
0.5ZNF792-N425Dhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5ZNF792-R177Qhet unknown0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF737-K516Ehet unknown0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF737-T442Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZNF737-Y369Chet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ZNF737-S364Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZNF737-I361Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZNF737-C78Ghet unknown0.076Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.98 (probably damaging)
0.5CARD8-Q356Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.977 (probably damaging)
0.5CARD8-C10*het unknown0.322Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5BCAT2-T186Rhet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.548 (possibly damaging), Testable gene in GeneTests
0.5PTPRH-I1076Vhet unknown0.402Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.97 (probably damaging)
0.5PTPRH-G831Dhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.019 (benign)
0.5PTPRH-K823Ehomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTPRH-L543Fhet unknown0.113Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5PTPRH-H348Yhomozygous0.576Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.5PTPRH-D232Nhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.972 (probably damaging)
0.5DEFB126-P106Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TMC2-R123Khomozygous0.659Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TMC2-W217Rhet unknown0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5E2F1-G200Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5PANK2-G126Ahomozygous0.917Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NLRP7-A481Thet unknown0.090Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5NLRP7-I368Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NLRP7-QL310RIhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LAIR2-R76*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5LAIR2-H112Qhet unknown0.128Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5KLK13-H109Yhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.953 (probably damaging)
0.5DHDH-S66Nhet unknown0.545Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DHDH-Q233*het unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5DHDH-G282Rhet unknown0.093Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5FPR1-E346Ahomozygous0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-N192Khet unknown0.516Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-V101Lhet unknown0.336Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-I11Thomozygous0.831Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF432-G577Dhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.924 (probably damaging)
0.5LILRB3-S562Phet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LILRB3-R525Ghet unknown0.079Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LILRB3-R465Lhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5LILRB3-N252Dhomozygous0.963Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LILRB3-M115Lhomozygous0.950Unknown
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-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-C413Fhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZNF880-K471Rhet unknown0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAM18B2-L271Qhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
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
0.5SYNE2-H3309Rhomozygous0.647Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5SYNE2-L5186Mhomozygous0.708Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-Q6655Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RASAL1-R321Hhet unknown0.775Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RASAL1-A93Vhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5RASAL1-T58Mhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5RASAL1-V11Lhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign)
0.5FANCM-S175Fhet unknown0.242Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCM-V878Lhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCM-I1460Vhet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.5FANCM-P1812Ahet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.958 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DDX54-P822Lhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5DDX54-R693Qhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.86 (probably damaging)
0.5DDX54-G6Rhet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWF-G2705Rhet unknown0.047Unknown
benign
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5VWF-V1758Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-T1381Ahet unknown0.754Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-Q852Rhomozygous0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-T789Ahomozygous0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.5VWF-H484Rhet unknown0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.83 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5VWF-V471Ihet unknown0.109Unknown
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: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYO7A-L1954Ihomozygous0.552Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CCDC63-Y303Fhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5CCDC63-R544Lhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.112 (benign)
0.5MAP4K5-A334Thet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5UTP14C-G85Vhomozygous0.559Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UTP14C-R319Hhet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging)
0.5GSTP1-I105Vhomozygous0.338Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL4A1-T555Phomozygous0.994Unknown
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: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KRT83-H493Yhomozygous0.791Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT83-I279Mhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5VDR-M1Thet unknown0.687Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5PCK2-Q121Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EXPH5-N1967Dhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EXPH5-L853Phet unknown0.377Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EXPH5-S676Nhet unknown0.647Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EXPH5-V525Fhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5EXPH5-R328Qhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5EXPH5-R19Ghet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GPR109A-I156Vhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.909 (probably damaging)
0.5TEP1-S1195Phomozygous0.703Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-R1055Chomozygous0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-S116Phet unknown0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TIRAP-S180Lhet unknown0.073Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAM70B-V183Ihet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.884 (probably damaging)
0.5PDZRN4-Y575Chet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5KNTC1-K245Nhet unknown0.158Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.289 (possibly damaging)
0.5KNTC1-V2021Ghet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.992 (probably damaging)
0.5HNF1A-I27Lhet unknown0.311Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HNF1A-V380Dhet unknown0.061Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HNF1A-S487Nhet unknown0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HNF1A-S574Ghomozygous0.976Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HPD-T33Ahomozygous0.884Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LRRC16B-G1161Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.975 (probably damaging)
0.5ATM-D1853Nhet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATM-N1983Shomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC7A7-A91Vhet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.039 (benign), Testable gene in GeneTests with associated GeneReview
0.5GYS2-M363Vhomozygous0.729Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ACOT4-A187Dhet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5ACOT4-AY189QShet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PEX16-V116Ihomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TSHR-E727Dhomozygous0.895Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZFC3H1-K1807Rhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.92 (probably damaging)
0.5MLH3-N826Dhomozygous0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.5GALC-T641Ahomozygous0.892Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GALC-I562Thomozygous0.446Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.167 (benign), Testable gene in GeneTests with associated GeneReview
0.5ALX4-P102Shet unknown0.217Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALX4-R35Thet unknown0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DCD-D71Nhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5BEST3-K59Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ANO2-P143Shet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ANO2-V108Ahet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRR5L-A41Thet unknown0.826Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.96 (probably damaging)
0.5PRR5L-T139Ahet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.977 (probably damaging)
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: 3
Polyphen 2: 0.122 (benign), Testable gene in GeneTests with associated GeneReview
0.5ROM1-G118Ahomozygous0.931Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests
0.5MEN1-T546Ahomozygous0.791Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HTR2A-H452Yhet unknown0.098Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.489 (possibly damaging)
0.5ATP7B-V1140Ahomozygous0.495Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP7B-R952Khomozygous0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP7B-K832Rhomozygous0.455Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.461 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5ATP7B-V456Lhomozygous0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5ATP7B-S406Ahomozygous0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5SLCO1B3-S112Ahomozygous0.646Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLCO1B3-M233Ihomozygous0.659Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.131 (benign)
0.5WNK1-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: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-C1506Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-M1808Ihomozygous0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZFYVE26-R2411Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZFYVE26-N1891Shomozygous0.900Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZFYVE26-C1457Yhomozygous0.136Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.5A2ML1-D850Ehomozygous0.974Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5A2ML1-R1122Whomozygous0.408Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5A2ML1-A1226Shifthet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5A2ML1-H1229Rhomozygous0.949Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5A2ML1-M1257Vhomozygous0.803Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RAD51L1-K243Rhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5SNX19-L878Rhomozygous0.808Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-N753Shomozygous0.617Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-L618Fhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-P480Lhomozygous0.151Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.977 (probably damaging)
0.5SNX19-S407Ghomozygous0.202Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-D396Ehomozygous0.151Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-G381Shomozygous0.151Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SNX19-V361Lhomozygous0.671Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AIP-Q228Khomozygous0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AIP-Q307Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375ANK2-R481Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375ANK2-V2369Ahet unknown0.136Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.375CDAN1-R891Chet unknown0.246Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.375CDAN1-Q596Rhet unknown0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375CDAN1-V328Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375CDAN1-Q107Lhet unknown0.175Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375IGHMBP2-L201Shet unknown0.650Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375IGHMBP2-I275Vhet unknown0.138Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375IGHMBP2-R694Whet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375IGHMBP2-A849Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375MYO3A-R319Hhet unknown0.376Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.375MYO3A-V369Ihet unknown0.642Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.375MYO3A-S956Nhet unknown0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375MYO3A-Q1614*het unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation, Testable gene in GeneTests
0.375NGF-R80Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375NGF-A35Vhet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.123 (benign), Testable gene in GeneTests
0.25TRIB3-Q84Rhet unknown0.188Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DBH-A211Thet unknown0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KLF11-Q62Rhet unknown0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging), Testable gene in GeneTests
0.25SLC3A1-M618Ihet unknown0.406Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25PKP2-I487Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PKP2-L366Phet unknown0.157Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GCKR-L446Phet unknown0.673Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ABCG8-Y54Chet unknown0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.01 (benign), Testable gene in GeneTests
0.25ABCG8-V632Ahet unknown0.908Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SIGLEC11-F148Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SIGLEC11-A147Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SIGLEC11-S145Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SIGLEC11-L144Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25LHCGR-N312Shet unknown0.573Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FKTN-R203Qhet unknown0.177Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.166 (benign), Testable gene in GeneTests with associated GeneReview
0.25CD3EAP-K428Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CD3EAP-Q504Khet unknown0.284Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25DMPK-L423Vhet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ABCA1-K1587Rhet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ABCA1-I883Mhet unknown0.427Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ABCA1-V825Ihet unknown0.160Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KRT6C-R182Qhet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.805 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25KRT1-K633Rhet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KRT1-SSYGSGG557Delhet unknown0.426Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AOX1-N1135Shet unknown0.195Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SATB2-E714Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SATB2-E714Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KRT6B-I365Vhet unknown1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25MUSK-V829Lhet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MCEE-R104Lhet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25TTF1-G360Vhet unknown0.110Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.988 (probably damaging), Testable gene in GeneTests
0.25FSHR-S680Nhet unknown0.605Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FSHR-A307Thet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SETX-I2587Vhet unknown0.591Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SETX-T1855Ahet unknown0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SETX-I1386Vhet unknown0.494Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SETX-G1252Rhet unknown0.494Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SETX-D1192Ehet unknown0.598Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SETX-F1152Chet unknown0.109Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SETX-A660Ghet unknown0.242Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25IRAK4-A428Thet unknown0.184Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FAM83E-P311Lhet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.25FAM83E-T91Ahet unknown0.560Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DL492456-R148Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25DL492456-Y109ChomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25DL492456-W104*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25FUT2-W154*het unknown0.364Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.25FUT2-G258Shet unknown0.390Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.954 (probably damaging)
0.25GGCX-R325Qhet unknown0.454Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25CFH-H402Yhet unknown0.818Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ZNF692-P230Rhet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.025 (benign)
0.25ZNF692-Q19Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25C1orf223-D104Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C1orf223-L147Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25C1orf223-A199Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25FAAH-P129Thet unknown0.237Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25EP300-I997Vhet unknown0.176Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CU012959-T55Phet unknown0.526Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CU012959-V96Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CALHM1-M323Ihet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CALHM1-G282Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.059 (benign)
0.25CALHM1-L86Phet unknown1.000Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SCD-M224Lhet unknown0.377Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DBT-S384Ghet unknown0.869Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PRKRIR-P688Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PRKRIR-S475Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MYH9-I1626Vhet unknown0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CTH-S403Ihet unknown0.175Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SCO2-R20Phet unknown0.690Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25POLA2-G583Rhet unknown0.118Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.024 (benign)
0.25PLEKHM2-I32Thet unknown0.392Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PLEKHM2-G63Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PLOD1-A99Thet unknown0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25USH1C-E819Dhet unknown0.408Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RNF207-N573Shet unknown0.474Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RNF207-G603Ahet unknown0.165Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.25H19-G355Rhet unknown0.359Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25H19-V94Ihet unknown0.361Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25H19-W38Rhet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PLA2G2F-R96Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PLA2G2F-T185Mhet unknown0.008Unknown
not reviewed
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
0.25LDLRAP1-S202Phet unknown0.473Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.803 (possibly damaging), Testable gene in GeneTests
0.25PINK1-N521Thet unknown0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDA-K27Qhet unknown0.190Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PDE6C-S270Thet unknown0.419Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CASQ2-T66Ahet unknown0.427Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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
0.25IFNGR2-Q64Rhet unknown0.243Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests
0.25KCNE1-S38Ghet unknown0.710Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25KANK1-E432Qhomozygous0.145Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.009 (benign)
0.25KANK1-Y845Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PCK1-V184Lhet unknown0.856Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EPHX1-H139Rhet unknown0.210Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25THBD-A473Vhet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GNPAT-D519Ghet unknown0.131Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.025 (benign), Testable gene in GeneTests
0.25AGT-M268Thet unknown0.733Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MMP9-Q279Rhet unknown0.477Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MMP9-R574Phomozygous0.813Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MMP9-R668Qhet unknown0.187Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PRG4-R180Whet unknown0.225Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.25PRG4-T604Ahet unknown0.144Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PRG4-C746Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CBR3-C4Yhet unknown0.391Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25TCHH-K1902Qhet unknown0.543Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TCHH-L1258Vhet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TCHH-E626Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TCHH-P625Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25TCHH-L63Rhomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ANXA11-R230Chet unknown0.382Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.25LIPA-G23Rhet unknown0.139Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ALG8-N222Shet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25ACAT1-A5Phet unknown0.220Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.137 (benign), Testable gene in GeneTests
0.25IL6R-D358Ahet unknown0.266Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.911 (probably damaging)
0.25PLEKHN1-K413Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PLEKHN1-A414Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLC19A1-H27Rhet unknown0.447Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25FMO2-F182Shet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FMO2-S195Lhet unknown0.465Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FMO2-E314Ghet unknown0.128Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
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
0.25DPAGT1-I393Vhet unknown0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ICAM1-K469Ehet unknown0.297Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CYP3A7-R409Thet unknown0.669Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PAX9-A240Phet unknown0.323Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25COCH-T352Shet unknown0.382Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC22A4-I306Thet unknown0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25SLC22A4-L503Fhet unknown0.142Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FANCA-G809Dhet unknown0.671Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FANCA-G501Shet unknown0.654Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FANCA-T266Ahet unknown0.708Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25C5orf20-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
0.25DHODH-K7Qhet unknown0.560Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.25TCOF1-A1353Vhet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GARS-P42Ahet unknown0.654Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SPINK5-R711Qhet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SRA1-V110RLhet unknown0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HSD17B4-R106Hhet unknown0.331Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.547 (possibly damaging), Testable gene in GeneTests
0.25HSD17B4-I559Vhet unknown0.392Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.111 (benign), Testable gene in GeneTests
0.25NR_027336-P160Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NR_027336-V73Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NR_027336-W23*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25GHR-I544Lhet unknown0.473Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.25AMACR-E277Khet unknown0.724Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AMACR-Q239Hhet unknown0.109Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AMACR-L201Shet unknown0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KRT27-I305Thet unknown0.568Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KRT27-A284Thet unknown0.092Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KRT27-G193Shomozygous0.343Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KRT27-T18Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25DLL3-L218Phet unknown0.650Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ITGA2-E534Khet unknown0.130Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25COX10-R159Qhet unknown0.494Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25WDR36-I264Vhet unknown0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CMYA5-E1952Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CMYA5-K1978Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CMYA5-R3927Qhet unknown0.103Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ARSB-V358Mhet unknown0.249Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.117 (benign), Testable gene in GeneTests
0.25GUCY2D-L782Hhet unknown0.165Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ABCB4-R652Ghet unknown0.189Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GM2A-I59Vhet unknown0.642Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GM2A-M69Vhet unknown0.826Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CETP-V422Ihet unknown0.494Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC28A2-P22Lhet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC28A2-S75Rhet unknown0.253Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FLVCR2-V16Ahet unknown0.514Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25FLVCR2-P279Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TLN2-S460*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25TLN2-SG461RRhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLC22A2-S270Ahet unknown0.876Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SPG11-F463Shet unknown0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25EYA4-G277Shet unknown0.467Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25SERPINA1-E400Dhet unknown0.220Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25FIG4-M364Lhet unknown0.101Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.011 (benign), Testable gene in GeneTests with associated GeneReview
0.25ATXN3-V212Mhet unknown0.358Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CAPN3-A236Thet unknown0.323Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SPATA7-D2Nhet unknown0.155Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.665 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25SPATA7-V74Mhet unknown0.412Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PLG-D472Nhet unknown0.151Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDSN-N527Dhomozygous0.849Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDSN-L410Shet unknown0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDSN-S401Ghet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CDSN-S153Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CDSN-N143Shomozygous0.848Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDSN-M18Lhet unknown0.298Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25AHR-R554Khet unknown0.315Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NOD2-P268Shet unknown0.105Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FGFR4-P136Lhomozygous0.768Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FGFR4-G388Rhet unknown0.301Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.481 (possibly damaging)
0.25SIX6-H141Nhet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.25FAM20C-I320Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25FAM20C-N564DhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25F13A1-V35Lhet unknown0.143Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC28A1-A256Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLC28A1-D521Nhet unknown0.226Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZNF204P-E93Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ZNF204P-K6Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MTHFD1-K134Rhomozygous0.846Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MTHFD1-R653Qhet unknown0.320Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.25ABAT-Q56Rhet unknown0.485Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TMEM8A-T540Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TMEM8A-R69Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25TLR3-L412Fhet unknown0.200Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.991 (probably damaging)
0.25PABPC3-M251Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PABPC3-K254Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
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-E592Qhet unknown0.276Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.082 (benign)
0.25CCDC66-S606SPhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ACADS-G209Shet unknown0.128Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests
0.25ARHGEF18-K392MLhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ARHGEF18-I393Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ARHGEF18-Q701Rhomozygous0.863Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ARHGEF18-N1019Shomozygous0.667Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NBN-E185Qhet unknown0.338Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CD226-S307Ghet unknown0.423Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC2A2-T110Ihet unknown0.234Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25JUP-M697Lhet unknown0.520Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25OPA1-S158Nhet unknown0.482Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25CLCN2-T668Shet unknown0.378Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MRO-L128Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MRO-R53Shomozygous0.409Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MRO-T23Nhomozygous0.150Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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
0.25AK304151-S34Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25AK304151-F47Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ZNF317-Q19Hhet unknown0.108Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ZNF317-Q19Hhet unknown0.108Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25VGLL4-R275Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25VGLL4-I38Mhomozygous0.941Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25AL137446-K238ThomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25AL137446-E317*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25AL137446-E326VhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25AL137446-R372PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25IL12RB1-G378Rhet unknown0.329Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25IL12RB1-M365Thet unknown0.297Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25IL12RB1-Q214Rhet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25IL12RB1-R156Hhet unknown0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.029 (benign), Testable gene in GeneTests
0.25SLC7A9-L223Mhet unknown0.265Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.25SLC7A9-V142Ahet unknown0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CPO-M85Ihet unknown0.426Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.196 (benign), Testable gene in GeneTests
0.25CPO-S134Rhet unknown0.476Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25LRRIQ1-G558Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25LRRIQ1-E906Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CYP11B2-G435Shet unknown0.228Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.011 (benign), Testable gene in GeneTests
0.25TMEM67-I604Vhet unknown0.710Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MMAB-M239Khet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MMAB-R19Qhet unknown0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TG-S734Ahet unknown0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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-W2501Rhet unknown0.566Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.031 (benign), Testable gene in GeneTests
0.25CC2D1A-T331Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CC2D1A-T801Mhet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.979 (probably damaging)
0.25CYP11B1-A386Vhet unknown0.059Recessive
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CYP11B1-R43Qhet unknown0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SGCG-N287Shet unknown0.843Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25LIG4-T9Ihet unknown0.132Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.966 (probably damaging)
0.25UGT2B7-Y268Hhet unknown0.727Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25COG1-N392Shet unknown0.536Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FOXK2-A408Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25FOXK2-A479Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLC25A15-I254Lhet unknown0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AXIN2-P50Shet unknown0.264Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ABCG2-Q141Khet unknown0.131Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.548 (possibly damaging)
0.25NR_002144-DDDFE68Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NR_002144-SE75Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NR_002144-L77Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NR_002144-Q280Rhomozygous0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NR_002144-Y307Hhomozygous0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NR_002144-L312Rhomozygous0.856Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ATP6V0A4-V2Ahet unknown0.680Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25BRIP1-S919Phet unknown0.652Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SUCLA2-S199Thet unknown0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CNGA1-D187Nhet unknown0.228Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ITGA2B-I874Shet unknown0.255Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25BRCA1-S1634Ghet unknown0.292Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BRCA1-K1183Rhet unknown0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BRCA1-E1038Ghet unknown0.265Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25BRCA1-P871Lhet unknown0.555Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.25B3GALTL-E370Khet unknown0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.25C8orf49-G26RhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C8orf49-I81Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C8orf49-R95Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C8orf49-C194*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25FRY-C1324Shet unknown0.159Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FRY-G1968Shomozygous0.226Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FRY-D2115Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25FREM2-S745Phomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FREM2-T2326Ihet unknown0.768Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TLR1-S602Ihet unknown0.727Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TLR1-N248Shet unknown0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25SLC2A9-P350Lhet unknown0.232Unknown
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
0.25AFAP1-V602Mhomozygous0.168Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25AFAP1-D562Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25AFAP1-A561Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NOS3-D298Ehet unknown0.844Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0RYR2-G1885Ehet unknown0.024Recessive
pathogenic
High clinical importance,
uncertain
Reported to cause arrhythmogenic right ventricular cardiomyopathy when compound heterozygous with G1886S, although this finding is weakened after correcting for multiple hypotheses and it is unclear what penetrance such a genotype might have, if it is causal.
0MTRR-I49Mhet unknown0.313Recessive
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.
0ALG3-F200Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0HFE-C282Yhet unknown0.018Recessive
pathogenic
Low clinical importance,
well-established
This variant is associated with hereditary haemochromatosis, 80% of patients with that disease are homozygous for this variant. However, the penetrance is low, in Beutler et al. they note that only 1 of their 158 homozygotes met criteria for diagnosis with the condition.

Input file format: CGIVAR

Genome build: b37

Genome coverage: 2,765,325,846 bases (96.8% of callable positions, 89.8% of total positions)

Coding region coverage: 32,898,890 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, chrY

Gene search

"GENE" or "GENE A123C":

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