hu0BCA45 - GET-Evidence variant report

Variant report for hu0BCA45

Log file: 




VariantClinical
Importance
ImpactAllele
freq
Summary
1PEX1-I696MHighUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.0270547Reported as a mutation causing peroxisome biogenesis disorder in a single patient, presumably in a recessive manner.1
2SIAE-M89VModerateUncertainUncertain pathogenic

Recessive, Homozygous
0.0400632This variant was reported to be associated with autoimmune disease when homozygous. However, a later publication has contradicted this result, finding no significant association between this variant and autoimmune disease in a very large cohort.1
3PPARG-P12AModerateUncertainUncertain not reviewed

Unknown, Homozygous
0.08867821
4MTRR-I49MLowLikelyLikely pathogenic

Recessive, Homozygous
0.451199This common variant (HapMap allele frequency of 31.3%) in a protein involved in folate (B9) and cobalamin (B12) metabolism and is often reported as "MTRR I22M" (an alternative transcript position). Mothers homozygous for this variant are associated with having around a increased chance of a child with Down syndrome (risk of 0.4%, average risk in population is 0.25%). Notably, age plays a far larger role in the rate of Down syndrome (risk is 4.5% for a mother 45-years-of-age), and it is unknown how this variant may combine with the effect of age. There are conflicting reports associating this variant with incidence of neural tube defects, possibly when combined with MTHFR A222V.1
5COL4A1-Q1334HLowLikelyLikely pathogenic

Dominant, Homozygous
0.324689This common variant has been associated with arterial stiffness and, in Japanese, a small increased risk of myocardial infarction (MI, a.k.a. heart attack). This last observation supported a dominant effect for this variant and, assuming a lifetime risk of 15% for MI, we estimate carriers have an additional risk of 0.5-3%.1
6MBL2-G54DLowLikelyLikely pathogenic

Recessive, Carrier (Heterozygous)
0.103923This variant is associated with mannose binding protein deficiency which leads to impaired complement system immune response to mannose-rich pathogens. Patients homozygous for this allele or compound heterozygous are likely to have increased susceptibility to infection, but Hellemann et al. report heterosis for intensive care outcomes in heterozygous subjects. The wild-type version of this gene is known as variant allele A, while this is called variant allele B. See R52C (variant D) and G57E (variant C).1
7rs5186LowLikelyLikely pathogenic

Unknown, Homozygous
0.214878This common noncoding genetic variant has an allele frequency of ~30% and is associated with an increased risk of hypertension. If ~25% of non-carriers have hypertension, Bonnardeaux et al's data predict ~4% increased risk of hypertension per copy of this variant. This SNP is in the 3' noncoding region of the AGTR1 transcript (angiotensin II type 1 receptor), also known as AT2R1 or AT1R, which is a target of hypertension drugs.1
8WFS1-R611HLowUncertainUncertain not reviewed

Recessive, Homozygous
0.400446This nonsynonymous SNP is associated with Wolfram Syndrome (known as DIDMOAD), which is characterized by early-onset non-autoimmune diabetes mellitus, diabetes insipidus, optic atrophy, and deafness) and to adult Type Two Diabetes Mellitus. The WFS1 gene maps to chromosome 4p16.3. The variant has been shown to be statistically associated with type II diabetes in six UK studies and one study of Ashkenazi Jews (Sandhu, M., et al., Minton et al.).1
9H6PD-R453QLowUncertainUncertain pathogenic

Recessive, Homozygous
0.308886This common variant may have a small pathogenic effect by contributing to cortisone reductase deficiency (a rare abnormality) when homozygous and combined with a serious pathogenic variant. The same authors have tested and ruled out a contribution to polycystic ovary syndrome (similar phenotype, more common disease).1
10RNASEL-R462QLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.278026Associated with increased risk of prostate cancer in individuals who already have a family history of prostate cancer, but studies have been unable to replicate this finding in sporadic (non-familial) prostate cancer cases.1
11TGIF1-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
12CLEC7A-Y238XLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.0632088This variant has been found to impair homan mucosal antifungal defense and was implicated in vulvovaginal candidiasis and mucocutaneous infections in a Dutch family.1
13TP53-P72RLowUncertainUncertain pathogenic

Unknown, Homozygous
0.627743This is a common variant was first reported as a polymorphism. It has since had mixed associations with cancer: Storey et al. conclude a 7x *increased* risk of HPV cancer for homozygotes vs hets, but Jones et al. find a 1.98x *decreased* risk for colorectal cancer. This variant may have significant impact on particular cancers, but it is unclear what effect it has on the overall burden of cancer.1
14HFE-H63DLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.109965There have been some hypotheses that this variant contributes to causing hereditary hemochromatosis, possibly as a compound heterozygote, but some others treat it as a polymorphism. Cys282Tyr is the classic causal variant and itself has very low penetrance. Mouse studies indicates this variant has a similar but weaker effect; if it has any effect at all its penetrance may be quite low and/or require modifier alleles.1
15SP110-L425SLowUncertainUncertain pathogenic

Unknown, Heterozygous
0.863357This variant is associated with a slightly increased risk of tuberculosis. It is unclear whether it is itself causal, or in linkage disequilibrium with some other causal variant that has a stronger effect.1
16ACAD8-S171CLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.018312This variant (a.k.a S149C) was found as a compound heterozygote (with M130T) in a male newborn of European descent with isobutyryl-CoA dehydrogenase deficiency (identified by newborn screening). Lack of controls means that significance cannot be established and allele frequency cannot be estimated. Oglesbee et al. comment that IBD-deficiency may be relatively benign, most cases identified by newborn screening have remained asymptomatic, but Ferreira et al. report a symptomatic individual homozygous for this variant.1
17DPYD-M166VHighLikelyLikely pharmacogenetic

Unknown, Heterozygous
0.0778955Associated with DPYD deficiency and poor prognosis for chemotherapy w/ 5-flurorouracil. 1
18rs1544410LowUncertainUncertain pharmacogenetic

Unknown, Heterozygous
0.351562rs1544410 is a Vitamin D Receptor (VDR) single nucleotide polymorphism. It is unlikely that it has functional significance because it is located in an intron (Liu et. al.), but it is in strong linkage disequilibrium with rs731236 (Dvornyk et al), which is located in an exon. 1
19FUT2-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
20NPC1-H215RLowLikelyLikely protective

Complex/Other, Heterozygous
0.295687This variant is associated with a reduced risk of obesity, with an additive effect of -0.084 BMI per allele (an average of 0.54 pounds less, per allele, in a 5'6" individual). 1
21KCNJ11-K23ELowLikelyLikely protective

Unknown, Heterozygous
0.738148This variant is associated with decreased risk of type 2 diabetes. It is unclear whether this variant has additive effects, or acts in a dominant or recessive manner. Assuming diabetes has a lifetime risk of 36%, we estimate a decreased risk of around 1-2% per copy of this variant.1
22MTR-D919GLowUncertainUncertain protective

Complex/Other, Heterozygous
0.217234This variant was weakly associated with a protective effect vs. colorectal cancer, but only in individuals with low alcohol consumption. 1
23TYR-R402QLowWell-establishedWell-established benign

Complex/Other, Heterozygous
0.204964This is a frequent pigmentation polymorphism in Europeans that affects function of the Tyrosinase gene. It is associated with blue instead of green eyes and sun sensitivity. For the most part this variant is benign, but many individuals with ocular albinism (which affects only the eyes) carry this variant along with another more severe variant in the same gene.1
24ARSA-N350SLowWell-establishedWell-established benign

Unknown, Heterozygous
0.183199This common variant (HapMap 24.1% allele frequency) causes a loss of a glycosylation site (affecting the size of the protein when studied with gel electrophoresis) but does not affect enzyme activity or stability.1
25ADA-D8NLowLikelyLikely benign

Dominant, Heterozygous
0.0295359This common variant is reported to reduce adenosine deaminase enzyme activity. It has been associated with an increased tendency for non-REM sleep -- more slow wave sleep, less nocturnal wakings, and a stronger negative impact of sleep deprivation. A role for this gene and variant was previously proposed for autism susceptibility, but this is controversial and was not replicated by later studies.1
26GABRD-R220HLowLikelyLikely benign

Unknown, Heterozygous
0.0161891Probably benign, one report hypothesized this variant was associated with epilepsy, but a follow-up investigation failed to establish any statistically significant difference for this variant's incidence in control vs. affected populations.1
27NEFL-S472ShiftLowLikelyLikely benign

Unknown, Homozygous
Although a frameshift in this gene would be predicted to cause Charcot-Marie Neuropathy, this particular position appears to reflect a single base insertion error/mutation in the reference genome (in other words, normal individuals are always homozygous for a deletion at this position relative to reference). See chr8:24,811,060-24,811,080 annotations on UCSC.1
28PKHD1-V3960ILowLikelyLikely benign

Unknown, Heterozygous
0.0128277Probably benign, reported as a nonpathogenic polymorphism found in controls.1
29OCA2-R305WLowLikelyLikely benign

Unknown, Heterozygous
0.0815207This variant is associated with eye color, as is OCA2 Arg419Gln. Individuals with this variant are more likely to have brown/black eyes (as opposed to blue/gray or green/hazel). Other variants in this gene are associated with oculocutaneous albinism (albinism which involves skin and eyes).1
30PKHD1-I3905NLowLikelyLikely benign

Unknown, Heterozygous
0.048615Presumed benign, allele frequency contradicts severe pathogenic effect.1
31KEL-T193MLowUncertainUncertain benign

Dominant, Heterozygous
0.0320692This variant is also known as Kell or K1 or K (capitalized) in the Kell antigen system. K1-negative mothers (carrying no copies of this variant) carrying K1-positive fetuses (heterozygous or homozygous) are at risk for hemolytic disease of the newborn. About 9% of caucasians carry one or two copies of K1.1
32MLH1-I219VLowUncertainUncertain benign

Dominant, Heterozygous
0.239822Computational evidence, functional assays, and case/control studies suggest this variant is probably benign.1
33LOXL1-R141LLowUncertainUncertain benign

Complex/Other, Homozygous
0.255899Associated with exfoliative glaucoma & syndrome (XFG & XFS) in various populations, but with contradicting results (protective in Caucasians, pathogenic in Japanese). Based on this it seems the variation itself -- although it affects protein structure -- is not itself causing disease. Instead it is likely associated with other nearby causal variants. As such, it is evaluated as benign by GET-Evidence (which focuses on reporting causal variants). See detailed variant report for disease risk associations.1
34RPGRIP1-A547SLowUncertainUncertain benign

Complex/Other, Heterozygous
0.232202Probably benign. Implicated in causing autosomal recessive cone-rod dystrophy, but a later report found the same incidence in controls and concludes it is not causal.1
35TERT-A279TLowUncertainUncertain benign

Unknown, Heterozygous
0.0200037Reported as a rare but probably nonpathogenic polymorphism occurring in controls as well as patients. Other defects in this gene are associated with telomere shortening which may cause aplastic anemia or dyskeratosis congenita.1
36TAS2R38-A49PLowUncertainUncertain benign

Unknown, Heterozygous
0.431121This variant is strongly associated with causing the "taster" phenotype of phenylthiocarbamine (PTC) in a dominant manner.1
37PCCA-I475VLowUncertainUncertain benign

Unknown, Heterozygous
0.0377394Reported as a polymorphism, tentatively presumed benign.1
38PHYH-P29SLowUncertainUncertain benign

Unknown, Heterozygous
0.155326Probably benign. This variant was implicated as causing Refsum Disease in a recessive manner, but a subsequent publication noted that all instances were linked with other explanatory mutations. The high allele frequency of this variant in the population (7-13%) contradicts a pathogenic hypothesis.1
39F5-M413TLowUncertainUncertain benign

Unknown, Heterozygous
0.0580963Presumed benign. This variant is not particularly rare and has not been reported to cause disease.1
40GUCY2D-A52SLowUncertainUncertain benign

Recessive, Carrier (Heterozygous)
0.21016One publication suggested that this variant possibly causes Leber's congenital amaurosis in a recessive manner, but the frequency data (36% in 1000 genomes) contradicts any significant pathogenic effect.1
41F5-D2222GLowUncertainUncertain benign

Unknown, Heterozygous
0.0448968Other mutations in this gene are associated with Factor 5 deficiency. There is no literature implicating this variant, however, and it is fairly common in the population (3.8% in HapMap), and so it is currently labeled as benign.1
42ELN-G581RLowUncertainUncertain benign

Unknown, Heterozygous
0.072876Probably a benign SNP, not rare (4.8% allele frequency in GET-Evidence data).1
43APOB-Y1422CLowUncertainUncertain benign

Unknown, Homozygous
0.999628This position is almost certainly an error in the HG18 reference sequence. 1
44PCSK9-G670ELowUncertainUncertain benign

Unknown, Homozygous
0.888269This variant is likely benign. 1
45PTCH1-P1315LLowUncertainUncertain benign

Unknown, Homozygous
0.29631Common polymorphism, presumed benign.1
46SPTA1-A970DLowUncertainUncertain benign

Unknown, Heterozygous
0.0373134This variant, also called alpha-IIa, has been seen frequently in individuals with recessive Hereditary spherocytosis. This appears to be the result of linkage to alpha-LEPRA (a C>T substitution at position -99 of intron 30); A970D is later reported as functionally neutral.1
47SLC45A2-L374FLowUncertainUncertain benign

Unknown, Homozygous
0.691764Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma.1
48RP1-N985YLowUncertainUncertain benign

Unknown, Heterozygous
0.348671Probably benign. One report linked this variant to high triglycerides, but a later paper found a nearby SNP with similar association and suggests that both findings are caused by linkage to an undiscovered causal variant.1
49RAPSN-R58CLowUncertainUncertain benign

Unknown, Heterozygous
0.0778026Reported as non-pathogenic polymorphism. 1
50TAS2R38-I296VLowUncertainUncertain benign

Unknown, Heterozygous
0.463376This variant is associated with "taster" status of PTC, along with 49P and 262A. Due to linkage disequilibrium, the independent effects of positions 296 and 262 is unclear. The presence of 49P confers taster status in a dominant fashion, but in the absence of 49P, the presence of 262A/296V is still positively associated with tasting PTC.1
VariantPrioritization scoreAllele
freq
Num of
articles
Zygosity and Prioritization Score Reasons

Exome coverage: 32262365 / 33282720 = 96.93%

GeneChromosomeCoverageMissingLengthMissing regions
1AGRN10.4327142391658534826138955553-955753, 957584-957641, 957649-957683, 957693-957842, 970657-970704, 976045-976146, 976155-976260, 976553-976562, 976568-976691, 976709-976775, 976859-976908, 976914-976938, 976981-977030, 977055-977082, 977353-977354, 977368, 977421-977424, 977445, 977458-977481, 977494, 977538-977542, 978623, 978706-978711, 978719-978722, 978726-978742, 978745-978754, 978762-978769, 978781, 978786, 978795-978796, 978799-978800, 978811, 978918-978930, 978959-978964, 978969-978970, 978976, 979028, 979031-979036, 979050, 979053, 979063-979112, 979236-979250, 979258, 979343, 979353-979403, 979495-979524, 979534-979549, 979573-979606, 979723-979729, 979784-979819, 980547-980553, 980587-980625, 980774-980802, 980874, 980880, 981164, 981212, 981347-981357, 981446-981455, 981567-981575, 981578, 981616-981619, 981627-981628, 981645, 981777-981794, 981800, 981803, 981819-981841, 981852-981998, 982015-982039, 982045-982102, 982200-982236, 982257-982283, 982290, 982328-982329, 982707-982745, 982779-982816, 982953-983004, 983024-983030, 983156-983236, 983246-983257, 983414, 983416-983452, 983460-983464, 983473-983745, 984247-984285, 984295-984414, 984425-984439, 984621-984671, 984681, 984684-984771, 984797-984802, 984810-984812, 984824-984831, 984946-984956, 984997, 985044-985052, 985057-985062, 985070-985073, 985115, 985118-985120, 985138-985175, 985289-985320, 985334-985382, 985613-985634, 985651-985652, 985655-985671, 985676, 985692-985702, 985841-985886, 985955-985965, 985968-985971, 986115-986157, 986172-986196, 986633-986742, 986833-986897, 986904-986906, 986909, 986919, 986926, 986952-986964, 986995-987002, 987020-987021, 987108-987135, 987156, 989191-989227, 989255-989257, 989322, 989871, 989874, 989879, 989882-989907, 990226, 990231, 990236-990242, 990255-990268, 990272-990324, 990345-990361
2GABRD10.5805739514348857013591950863-1950930, 1956395, 1956435-1956459, 1956795-1956836, 1956962, 1957025-1957027, 1957030-1957040, 1957071-1957073, 1957123-1957125, 1957144-1957149, 1957167, 1959041, 1959093, 1959594-1959596, 1959617-1959654, 1959683, 1959716-1959731, 1960550-1960560, 1960596-1960620, 1960638-1960647, 1960654-1960705, 1960990-1961014, 1961031-1961034, 1961062-1961067, 1961090, 1961178, 1961195-1961201, 1961422-1961529, 1961553-1961585, 1961612, 1961618, 1961646-1961693, 1961709-1961721
3PEX1010.95107033639144489812337923-2337934, 2343832-2343839, 2343845-2343853, 2343884-2343902
4NPHP410.9560850268628818842815947417-5947426, 5947497-5947526, 6029152, 6038330-6038473, 6046239, 6046242, 6046264
5ESPN10.8101364522417248725656485016-6485131, 6485142-6485180, 6485194-6485242, 6485261-6485309, 6488301-6488346, 6488377-6488392, 6488426-6488432, 6488463-6488479, 6500386-6500392, 6500466-6500488, 6500709-6500715, 6500837-6500868, 6501062, 6505776-6505798, 6505848-6505859, 6505931-6505937, 6508882-6508888, 6508922-6508928, 6509054-6509060, 6512127-6512133, 6517316-6517323
6PLEKHG510.99843211037943531896556553, 6557380-6557383
7PEX1410.9894179894179912113410684444-10684452, 10689689, 10689930-10689931
8TARDBP10.994377510040167124511082356-11082362
9MASP210.996118389131498206111097772, 11103406, 11103449, 11103473, 11103582-11103584, 11103587
10MTHFR10.999492643328261197111863075
11PLOD110.9949633699633711218411994841-11994844, 12009830-12009836
12CLCNKA10.88759689922481232206416349191-16349197, 16351346-16351376, 16353253-16353270, 16354391-16354397, 16354595-16354601, 16355332, 16355630-16355631, 16355645, 16355648, 16355724-16355749, 16355760, 16356460-16356472, 16356486-16356487, 16356526-16356561, 16357009-16357039, 16357052, 16357104-16357123, 16357162, 16358268-16358274, 16358332, 16358704-16358709, 16358774-16358775, 16358779-16358780, 16358950, 16360141-16360147
13CLCNKB10.998062015503884206416378854, 16380243, 16380252, 16382196
14ATP13A210.9771380186282881354317312977-17313016, 17313593-17313620, 17314938-17314939, 17322637, 17323517, 17326506-17326513, 17328546
15HSPG210.99514268366727641317622211160, 22263648-22263710
16WNT410.9488636363636454105622469351-22469357, 22469369-22469415
17RPL1110.979515828677841153724019182-24019192
18HMGCL10.987730061349691297824134716-24134725, 24134777-24134778
19FUCA110.9700214132762342140124186314-24186319, 24189713, 24194404-24194409, 24194416-24194417, 24194442-24194443, 24194529, 24194556-24194560, 24194718-24194720, 24194725-24194737, 24194774-24194776
20SEPN110.89028776978417183166826126722-26126904
21KCNQ410.9846743295019232208841249773, 41249776, 41249782-41249783, 41249852-41249872, 41249882-41249887, 41249924
22POMGNT110.9929399899142714198346660231-46660234, 46660584-46660587, 46661547, 46662438, 46663436, 46663441-46663443
23PCSK910.9966329966337207955505553-55505555, 55521694-55521696, 55521824
24ABCA410.99985341542071682294471005
25COL11A110.99303646692322385457103363732, 103364230-103364266
26GSTM110.8843226788432376657110230503-110230531, 110230835-110230861, 110231721, 110231724, 110232976-110232986, 110233135-110233141
27NOTCH210.979638619201731517416120539665-120539714, 120539739-120539784, 120539916, 120539936, 120547962-120547968, 120548025, 120548051, 120548055, 120548091-120548097, 120572544-120572575, 120572609-120572610, 120612003-120612004
28FLG10.9734121122599732412186152276487-152276493, 152276755-152276761, 152278406-152278437, 152279219, 152279378-152279409, 152280369-152280381, 152280646-152280674, 152281350-152281356, 152281581, 152281589, 152281608, 152281621, 152281991, 152282178, 152283092-152283099, 152283272, 152284087, 152284162-152284181, 152284268-152284269, 152284277, 152284500-152284527, 152285073-152285088, 152285183-152285191, 152285241-152285247, 152285469-152285515, 152286153, 152286157, 152286163, 152286166, 152286792, 152286994-152287038
29CHRNB210.98210735586481271509154543952-154543968, 154544389-154544392, 154544406-154544411
30PKLR10.9953623188405881725155269990-155269997
31F510.9988014981273486675169510348, 169510480-169510486
32DARS210.9963880288957771938173795825-173795831
33HMCN110.99970428199669516908185972959-185972962, 186062685
34CFHR110.992950654582077993196797289-196797295
35CFHR510.9994152046783611710196967357
36USH2A10.99980780319047315609215990408-215990410
37ADCK310.9994855967078211944227169779
38GJC210.611363636363645131320228345571-228345597, 228345616, 228345709-228345720, 228345723, 228345755-228345758, 228345794, 228345852-228345862, 228345868-228345876, 228345909-228345950, 228345970, 228345978-228345992, 228346021-228346071, 228346087-228346089, 228346093-228346115, 228346138-228346164, 228346196-228346239, 228346257-228346408, 228346430-228346439, 228346444-228346446, 228346452-228346454, 228346471-228346493, 228346539-228346546, 228346552, 228346593, 228346665, 228346674-228346681, 228346684-228346688, 228346740-228346765
39ACTA110.9955908289241651134229568047-229568051
40RYR210.997987117552333014904237729973-237729977, 237814766-237814770, 237821244-237821263
41DCLRE1C100.9966329966337207914981847-14981853
42CUBN100.9999080206033811087217032445
43PTF1A100.99493414387031598723481727-23481730, 23481751
44PDSS1100.998397435897442124826998639, 27009225
45MASTL100.999241562381492263727456149, 27459971
46RET100.96831091180867106334543572707-43572771, 43596133-43596145, 43604581, 43606906-43606908, 43609986-43609987, 43615087, 43615090, 43615167, 43619119-43619132, 43619167-43619170, 43623637
47PCDH15100.99881134318227588955700663-55700669
48EGR2100.99790356394133143164573471-64573473
49NODAL100.999042145593871104472201354
50CDH23100.99761336515513241005673461899-73461906, 73462346-73462349, 73464771-73464777, 73464883-73464887
51LDB3100.9606227106227186218488466305-88466322, 88466375, 88466423-88466429, 88476088, 88476157-88476161, 88476175, 88476219-88476267, 88476341-88476342, 88476419, 88476527
52BMPR1A100.998123827392123159988683474-88683476
53GLUD1100.9868813357185422167788854422, 88854457-88854464, 88854477-88854483, 88854520-88854525
54PDE6C100.990686845168824257795372659-95372660, 95372664-95372665, 95386417-95386434, 95399907-95399908
55CPN1100.99273783587509101377101802219-101802228
56SUFU100.9945017182130681455104352414, 104359292-104359298
57HTRA1100.923076923076921111443124221169-124221248, 124221418-124221424, 124221473-124221476, 124221599-124221618
58HRAS110.998245614035091570533840
59TALDO1110.93688362919132641014747551-747578, 763379-763394, 763396-763404, 763861-763871
60SLC25A22110.9495884773662649972792068, 792197, 792450-792458, 792631-792654, 792676, 792692, 792706, 792710-792714, 792717-792718, 792870-792872, 792884
61PNPLA2110.97029702970297451515819719-819748, 819879-819888, 822492, 823998-824000, 824723
62CTSD110.804681194511724212391774849-1774856, 1774889, 1774894-1774900, 1775224-1775227, 1775250, 1775276-1775311, 1775327-1775333, 1775339-1775368, 1778588-1778590, 1778606, 1778624-1778649, 1780204-1780209, 1780215-1780217, 1780269-1780275, 1780751-1780758, 1780853-1780869, 1782539-1782548, 1782612, 1785024-1785089
63TNNT3110.770913770913771787771947938, 1954988, 1954991, 1955182-1955235, 1955563, 1955566-1955567, 1955595-1955638, 1955807-1955838, 1955873-1955885, 1958193-1958199, 1959701-1959722
64IGF2110.746835443037971807112154217-2154259, 2154269-2154275, 2154301, 2154320, 2154328, 2154352-2154417, 2154445, 2154798-2154844, 2154893-2154895, 2156734-2156742, 2161394
65TH110.7663492063492136815752185482-2185505, 2185521, 2185533, 2185570, 2185573, 2186506-2186511, 2186517, 2186532, 2186540-2186543, 2186898-2186914, 2186970-2186975, 2187278, 2187710-2187779, 2187868-2187874, 2187888, 2187892, 2187904-2187998, 2188132-2188156, 2188210-2188227, 2188230-2188231, 2188254-2188262, 2188686-2188693, 2190911, 2190956, 2191015, 2191019, 2191024, 2191922-2191978, 2191995-2192000
66KCNQ1110.8690300344657826620312466329-2466332, 2466365-2466408, 2466433-2466516, 2466526-2466625, 2466638-2466671
67CDKN1C110.406940063091485649512905323, 2905900-2905913, 2905923-2906123, 2906141-2906399, 2906419-2906491, 2906518-2906532, 2906708
68HBD110.9842342342342374445255652-5255658
69SMPD1110.99630801687764718966411935-6411941
70SBF2110.997837837837841255509812125, 9812129-9812130, 9812155, 9830511-9830518
71WT1110.9890604890604917155432449505-32449512, 32456619-32456622, 32456627-32456629, 32456682, 32456720
72SLC35C1110.997159090909093105645827884-45827886
73F2110.9925093632958814186946747500-46747513
74MYBPC3110.9973856209150310382547371442-47371443, 47371601, 47371606-47371611, 47372129
75SERPING1110.9906852960745214150357365763-57365776
76SLC22A12110.9717208182912247166264361227, 64365994-64365997, 64367153-64367156, 64367243-64367245, 64367264-64367287, 64367318-64367328
77SPTBN2110.99972117663462717366455383, 66475115
78CABP4110.945652173913044582867222914-67222916, 67222923-67222934, 67222944, 67222949, 67223056, 67223072, 67223088, 67223094, 67223199-67223220, 67225881-67225882
79AIP110.6998992950654629899367256741, 67256748-67256754, 67256757-67256759, 67256819, 67256824-67256828, 67256877-67256882, 67257509-67257520, 67257574-67257586, 67257628-67257635, 67257666-67257685, 67257787-67257792, 67257795-67257809, 67257823, 67257833-67257885, 67257908-67257928, 67258269-67258272, 67258293-67258322, 67258352-67258401, 67258423-67258464
80NDUFS8110.976303317535551563367799789-67799796, 67800649-67800650, 67803949-67803952, 67803955
81TCIRG1110.94985960689932125249367810177, 67810260-67810265, 67810453-67810461, 67811312-67811329, 67811652-67811657, 67815174-67815176, 67815430-67815437, 67816377-67816392, 67816548-67816552, 67816590-67816601, 67816717-67816724, 67817137-67817143, 67817228-67817239, 67817715, 67817954-67817960, 67817986-67817990, 67818074
82LRP5110.9849422442244273484868080183-68080246, 68131303, 68131359, 68207343, 68207374, 68216326, 68216353, 68216474-68216476
83CPT1A110.9952627045650311232268540750-68540758, 68552296, 68552307
84IGHMBP2110.9942991281019417298268671475-68671489, 68704534-68704535
85DHCR7110.999299719887961142871146659
86MYO7A110.836642599277981086664876868002-76868017, 76883842, 76885802-76885817, 76885857-76885867, 76885908-76885938, 76885951-76885960, 76886440-76886454, 76886496-76886498, 76888597-76888689, 76890091-76890175, 76890781-76890999, 76891420-76891527, 76892426-76892430, 76892446-76892499, 76892518-76892529, 76892547-76892635, 76892997-76893034, 76893041-76893088, 76893132, 76893162-76893200, 76893475-76893541, 76893551-76893588, 76893607-76893639, 76894113-76894127, 76894170, 76894191-76894192, 76894199-76894202, 76900397-76900419, 76901806-76901813, 76909656
87ALG8110.998102466793173158177823722-77823724
88FZD4110.9801734820322232161486666075-86666106
89MTMR2110.999482401656311193295657111
90TRPC6110.9996423462088712796101359762
91WNK1120.998741082668997149992198-992204, 994808, 994812
92CACNA1C120.995275110501453165612676789-2676792, 2676837, 2676867-2676892
93VWF120.99988154465766184426127943
94FGD4120.9952194697957411230132778590-32778600
95DNM1L120.998190863862514221132866245-32866247, 32866253
96PKP2120.998806682577573251433049474-33049476
97MLL2120.989707475622971711661449420222, 49420228, 49425780, 49425784-49425786, 49425793-49425800, 49425823-49425826, 49425834-49425838, 49426033, 49426043-49426045, 49426575, 49426578, 49426587, 49426590-49426595, 49426730-49426732, 49426906-49426926, 49427027, 49427050, 49427112, 49427149-49427152, 49427205, 49427220, 49427465, 49427661, 49427682, 49427685-49427688, 49431005, 49431243-49431245, 49431275-49431276, 49431302-49431304, 49431508-49431509, 49431550-49431551, 49431566, 49431579-49431591, 49431679-49431680, 49431822-49431840, 49431862, 49431892-49431912, 49432499-49432511, 49433325-49433336
98TUBA1A120.929824561403513245649522235-49522266
99AQP2120.99877450980392181650349330
100KRT81120.9894598155467716151852681437, 52681925, 52682999-52683005, 52684039, 52685169-52685170, 52685174-52685176, 52685181
101KRT86120.9842573579739923146152696903-52696918, 52697949-52697955
102KRT6B120.995870206489687169552844397-52844403
103AAAS120.9884216940889719164153701649-53701666, 53708549
104CEP290120.99973118279572744088472962, 88472968
105TMPO120.996642685851327208598909890-98909896
106IGF1120.998299319727891588102874149
107MYL2120.9580838323353321501111348881-111348895, 111351997-111352002
108ATXN2120.952562151192291873942112036661-112036719, 112036747-112036770, 112036783-112036785, 112036797-112036800, 112036825-112036829, 112036929-112036938, 112036949-112036950, 112036971-112036975, 112037000, 112037007-112037030, 112037040-112037058, 112037088, 112037127-112037154, 112037227, 112037284
109HNF1A120.9963080168776471896121434354-121434360
110SGCG130.99885844748858187623824783
111SACS130.970524017467254051374023905174, 23906760, 23907081, 23907361-23907380, 23907570, 23907664, 23907723, 23907899, 23908416, 23908463-23908468, 23908585-23908592, 23908848, 23909274, 23909949, 23910666-23910667, 23910703, 23910943, 23910948, 23910959, 23910967, 23911381-23911387, 23911436-23911443, 23911586-23911588, 23911598-23911605, 23911728-23911731, 23911755-23911782, 23911874, 23911955-23911961, 23911977, 23912250-23912260, 23912306-23912309, 23912317, 23912320-23912321, 23912540-23912541, 23912706, 23912743-23912745, 23912823-23912841, 23912864, 23912873-23912884, 23912946-23912958, 23912987-23912989, 23913001-23913025, 23913069, 23913080, 23913084-23913086, 23913106-23913131, 23913339-23913341, 23913376, 23913382, 23913394, 23913397, 23913506-23913507, 23913510, 23913577-23913590, 23913685, 23913788, 23913798-23913800, 23913866, 23913936-23913954, 23913995-23914004, 23914022-23914032, 23914205-23914207, 23914210-23914216, 23914231, 23914234-23914235, 23914905-23914906, 23914948-23914965, 23915004-23915009, 23915080, 23915085-23915087, 23915097-23915106, 23915110, 23915113-23915119, 23915249, 23915252-23915254, 23915260-23915268, 23915348-23915361
112B3GALTL130.987307949231819149731774222-31774240
113FREM2130.9920084121976976951039261568-39261570, 39261573-39261581, 39261685-39261688, 39261863-39261910, 39262057, 39262483, 39263128, 39265062-39265069, 39265491
114SUCLA2130.9813218390804626139248542829, 48547467, 48571013-48571015, 48571111-48571131
115ZIC2130.898686679174481621599100634390-100634414, 100634594-100634604, 100635004-100635040, 100637714-100637758, 100637801-100637802, 100637820-100637829, 100637834-100637838, 100637848-100637858, 100637871-100637872, 100637880, 100637884-100637889, 100637930-100637936
116F7130.648689138576784691335113760159-113760219, 113765032-113765087, 113765100, 113765112, 113765154, 113768066-113768068, 113768242, 113768253-113768254, 113768260, 113769974-113769975, 113769992, 113769995-113770032, 113770055-113770059, 113770076-113770114, 113771105, 113771111, 113771150, 113771155, 113771162-113771174, 113771189, 113771813-113771828, 113771902-113771910, 113772730-113772732, 113772780-113772828, 113772847-113772872, 113772883-113772923, 113772961-113772973, 113773037-113773039, 113773042-113773043, 113773049-113773055, 113773066-113773067, 113773091-113773128, 113773171-113773177, 113773248-113773251, 113773289-113773307
117F10130.97886843899114311467113777219-113777226, 113803240-113803242, 113803418-113803431, 113803563-113803566, 113803665, 113803758
118GRK1130.890661938534281851692114321779-114321827, 114321914-114321922, 114322074-114322079, 114322088-114322089, 114322107-114322153, 114325819, 114325822-114325823, 114325867-114325870, 114325878, 114325884, 114325934-114325936, 114325939-114325962, 114426047-114426077, 114426081-114426085
119PABPN1140.954397394136814292123790696-23790714, 23790963-23790985
120TGM1140.995925020374910245424724377-24724381, 24727546, 24728932-24728935
121FOXG1140.83945578231293236147029236532-29236533, 29236588-29236604, 29236622-29236626, 29236662-29236693, 29236722, 29236748, 29236751-29236824, 29236832-29236875, 29236888-29236946, 29237033
122MGAT2140.999255952380951134450088153
123C14orf104140.997215592680997251450101561-50101567
124GCH1140.972111553784862175355369240-55369249, 55369254-55369264
125MLH3140.95873452544704180436275506637-75506673, 75509112, 75513175-75513182, 75513527, 75513651-75513653, 75513923-75513927, 75514014-75514045, 75514469, 75514523-75514526, 75514529, 75514604, 75514608-75514616, 75514733-75514737, 75514768-75514783, 75514854, 75515032, 75515316-75515319, 75515332, 75515578-75515605, 75515633-75515643, 75515720, 75515773, 75515989, 75516009-75516012, 75516262-75516264
126POMT2140.9933422103861515225377786977-77786991
127GALC140.999028182701652205888434765-88434766
128SPATA7140.9927777777777813180088899498-88899508, 88899516-88899517
129ATXN3140.99263351749548108692537317-92537324
130AMN140.07929515418502212541362103389029-103389068, 103390048-103390050, 103390090-103390166, 103390293-103390314, 103394763-103394850, 103395095-103395312, 103395458-103395472, 103395485-103395595, 103395765-103395873, 103395992-103396074, 103396261-103396264, 103396276, 103396281-103396282, 103396299-103396423, 103396502-103396664, 103396743-103396830, 103396913-103397017
131INF2140.865866666666675033750105167918, 105169553, 105169672, 105169758, 105170265-105170268, 105173748, 105173761-105173774, 105173789-105173790, 105173856-105174155, 105174192-105174229, 105174235-105174281, 105174296-105174322, 105174336-105174339, 105174851, 105174895-105174898, 105176425-105176430, 105177463, 105177477-105177516, 105180927-105180933, 105181094-105181096
132NIPA1150.8191919191919217999023049029, 23086234-23086411
133UBE3A150.9946727549467314262825615777-25615783, 25616620-25616626
134CHST14150.99204244031839113140763418, 40763479-40763481, 40763484, 40763492, 40763524, 40763528, 40763539
135CDAN1150.999728555917481368443028912
136STRC150.992304804804841532843910863-43910903
137FBN1150.999535747446614861648737622, 48766789-48766791
138CEP152150.9959718026183320496549036443-49036447, 49044576, 49059555-49059567, 49059575
139BBS4150.998717948717952156073009190-73009191
140HCN4150.96788482834994116361273660077-73660088, 73660092, 73660106-73660109, 73660152, 73660155, 73660257-73660283, 73660332-73660333, 73660349-73660361, 73660419-73660428, 73660440-73660469, 73660505, 73660518-73660523, 73660568, 73660572, 73660606-73660611
141PSTPIP1150.41326938449241734125177310493-77310515, 77310523-77310529, 77310538-77310551, 77310578, 77310586-77310589, 77310812, 77310817, 77310820-77310822, 77310856-77310872, 77317632, 77317643, 77317861, 77317865-77317866, 77317899-77317921, 77320895, 77320905-77320927, 77320958-77320989, 77321913, 77322856-77322857, 77322902, 77322914, 77323531-77323599, 77324639-77324730, 77325203-77325293, 77327849-77327904, 77328143-77328276, 77329386-77329517
142RLBP1150.957023060796654195489753613-89753614, 89755085-89755112, 89755130, 89760385-89760393, 89760450
143POLG150.9973118279569910372089876828-89876836, 89876852
144MESP2150.79731993299832242119490319620-90319632, 90319843-90319941, 90320002-90320021, 90320100-90320105, 90320114, 90320132, 90320135-90320172, 90320214-90320220, 90320235-90320282, 90320317-90320321, 90320432-90320434, 90320438
145BLM150.999059708509644425491337546-91337549
146HBZ160.75524475524476105429202946, 202957-202989, 203902-203936, 204024, 204034, 204037, 204066, 204077, 204094-204095, 204271-204299
147HBM160.997652582159621426216343
148HBA2160.9720279720279712429222995-223006
149GNPTG160.97930283224401199181401967-1401969, 1401996-1402008, 1402285-1402286, 1402306
150CLCN7160.7229114971050567024181496632-1496675, 1497007-1497036, 1497042, 1497073, 1497081, 1497084-1497087, 1497394-1497395, 1497399, 1497406-1497408, 1497418, 1497422-1497433, 1497464, 1497521-1497528, 1497556-1497569, 1497656-1497715, 1498410-1498479, 1498683-1498704, 1498731-1498767, 1498983-1498995, 1499010-1499019, 1499030-1499032, 1499042-1499069, 1499277-1499324, 1500498, 1500502-1500533, 1500569-1500588, 1500651-1500667, 1501629, 1501635-1501658, 1501691-1501693, 1502791-1502795, 1502850, 1502868-1502894, 1503869-1503872, 1503879, 1504455-1504459, 1505204-1505211, 1505755-1505759, 1505762, 1506118, 1506121-1506129, 1506151, 1506160-1506166, 1506185-1506186, 1507296, 1507308, 1509130-1509144, 1509179-1509186, 1524850, 1524865-1524873, 1524899-1524944
151IGFALS160.8618012422360226719321840601-1840610, 1840665-1840673, 1840746, 1840853-1840856, 1840953-1840954, 1841054-1841056, 1841151-1841159, 1841185-1841197, 1841238, 1841301-1841307, 1841578-1841598, 1841618-1841647, 1841842-1841852, 1841941-1841972, 1842060-1842090, 1842191, 1842198-1842221, 1842225, 1842247, 1842375-1842402, 1842412-1842439
152GFER160.86245954692557856182034231-2034262, 2034279-2034282, 2034289, 2034328-2034337, 2034340-2034351, 2034366-2034367, 2034406-2034408, 2034413, 2034778-2034784, 2034869-2034876, 2035867-2035868, 2035922-2035924
153TSC2160.58904867256637222954242098631-2098635, 2098672, 2098723-2098736, 2100405, 2103386-2103404, 2103430-2103433, 2108748-2108779, 2108832-2108839, 2110788, 2110791-2110807, 2112535, 2112594-2112598, 2113053, 2114378, 2114384-2114385, 2114423-2114428, 2115536, 2115566-2115569, 2115583-2115613, 2121511-2121513, 2121595-2121617, 2121844-2121881, 2121906, 2121910-2121934, 2122297-2122300, 2124201-2124208, 2124332-2124336, 2124342-2124387, 2125812, 2125891-2125893, 2126095-2126103, 2126139, 2126150, 2126154-2126157, 2126518, 2126522, 2126548-2126557, 2126561, 2126575-2126580, 2127636, 2127639-2127642, 2127646, 2127709, 2127717-2127718, 2127722, 2129033-2129071, 2129084-2129092, 2129099, 2129110, 2129143-2129197, 2129277-2129287, 2129300, 2129312-2129357, 2129363, 2129398-2129429, 2129558-2129600, 2129631-2129656, 2130166-2130167, 2130212-2130215, 2130224, 2130228, 2130234-2130236, 2130273-2130340, 2130355-2130378, 2131596-2131656, 2131662-2131671, 2131691-2131732, 2131747-2131750, 2131755-2131765, 2131786-2131799, 2132450-2132479, 2133696-2133699, 2133719-2133788, 2133797-2133817, 2134229-2134517, 2134523-2134591, 2134603-2134716, 2134952-2135027, 2135231-2135323, 2136194-2136380, 2136738-2136872, 2137864-2137876, 2137895, 2137898-2137907, 2137924-2137927, 2137931, 2137934-2137941, 2138049-2138061, 2138073-2138121, 2138228-2138229, 2138239-2138248, 2138293-2138309, 2138314, 2138455-2138601
154PKD1160.02578996282527912579129122139728-2139983, 2139991-2140195, 2140286-2140333, 2140354-2140422, 2140442-2140591, 2140675-2140809, 2140885-2141175, 2141424-2141598, 2141782-2141907, 2142048-2142189, 2142488-2142491, 2142504-2142549, 2142558, 2142564, 2142572-2142593, 2142955-2143094, 2143547-2143599, 2143645-2143719, 2143812-2143862, 2143879, 2143888, 2143891-2143898, 2143914-2144014, 2144093-2144132, 2144144, 2144147, 2144155-2144156, 2144167-2144170, 2144174-2144187, 2144193, 2147149-2147242, 2147320-2147504, 2147739-2147781, 2147869-2147985, 2149645-2149771, 2149862-2150072, 2150167-2150310, 2150397-2150567, 2152062-2152257, 2152382-2152634, 2152815-2152971, 2153267-2153896, 2154499-2154643, 2155323-2155475, 2155866-2156025, 2156092-2156305, 2156399-2156678, 2156806-2156949, 2157884-2158033, 2158253-2161872, 2162341-2162474, 2162789-2162964, 2163162-2163293, 2164171-2164926, 2165381-2165623, 2165993-2166119, 2166530-2166645, 2166834-2167054, 2167490-2167515, 2167527-2167673, 2167792-2168463, 2168689-2168846, 2169115-2169186, 2169308-2169379, 2185516-2185598, 2185605-2185690
155ABCA3160.987683284457486351152333192-2333210, 2333263, 2339548, 2339553-2339554, 2342141-2342151, 2347403-2347406, 2348426-2348432, 2350006-2350018, 2354063-2354065, 2354108, 2367403
156CREBBP160.987992904898358873293777751, 3777767-3777768, 3777979-3777985, 3778440-3778442, 3778447-3778449, 3778452-3778455, 3778461, 3778630-3778646, 3778790, 3778882-3778884, 3778939, 3778953, 3778957-3778971, 3779178-3779194, 3779409, 3779412, 3779472-3779481
157GLIS2160.5346031746031773315754382302-4382329, 4382365-4382373, 4382385-4382406, 4383385-4383389, 4383423-4383434, 4384804, 4384829-4384863, 4384878-4384883, 4384893-4384897, 4384938-4384944, 4384961-4384978, 4385108-4385157, 4385294, 4385307, 4385341-4385373, 4386726-4386758, 4386791-4386825, 4386864-4386913, 4386946-4386978, 4386984-4387028, 4387072-4387074, 4387077-4387110, 4387133-4387136, 4387146, 4387157-4387208, 4387227, 4387275-4387483
158ALG1160.9275985663082410113955121877, 5128767, 5128778, 5128781, 5128817, 5128829, 5128837-5128839, 5128843, 5128859, 5128865, 5130960-5130999, 5131020-5131026, 5134812-5134846, 5134876-5134882
159ABAT160.99800399201597315038829606-8829608
160MYH11160.999158249158255594015826500-15826503, 15847301
161ABCC6160.80629432624113874451216244090, 16255310-16255383, 16256850-16256855, 16256884-16256904, 16256956-16256979, 16257010-16257011, 16257025-16257049, 16259480-16259540, 16259555-16259604, 16259611-16259677, 16259690-16259697, 16259720-16259745, 16259767-16259790, 16263503-16263549, 16263552-16263554, 16263582, 16263602-16263619, 16263629-16263679, 16263704-16263710, 16267141-16267237, 16267259-16267261, 16269768-16269826, 16269832-16269843, 16271309, 16271315-16271368, 16271409, 16271420-16271434, 16271455, 16271458, 16271463-16271483, 16272670, 16272692-16272718, 16272751-16272753, 16276396, 16276408-16276410, 16276423, 16276728-16276763, 16278831, 16281007, 16291969-16291972, 16306056-16306063, 16313509-16313515
162COG7160.997405966277566231323403701-23403706
163CLN3160.994684889901297131728497673-28497675, 28497706, 28497711-28497712, 28498859
164PHKG2160.9975429975433122130760159, 30768365-30768366
165SALL1160.999245283018873397551175656-51175658
166RPGRIP1L160.997720364741649394853709010-53709014, 53720376-53720378, 53726013
167SLC12A3160.9783381829938667309356901056, 56903665, 56912005, 56913007-56913008, 56913509, 56921843-56921892, 56921931, 56921934-56921943
168TK2160.99675324675325392466583902-66583904
169HSD11B2160.86206896551724168121867465152-67465275, 67465284-67465327
170LCAT160.9743008314436934132367973922-67973932, 67973939, 67976426-67976430, 67976773-67976778, 67976972-67976981, 67976985
171CDH3160.997590361445786249068725787-68725792
172AARS160.999312005503962290770301627, 70301630
173GCSH160.7260536398467414352281116504, 81116566, 81118115-81118155, 81124206-81124240, 81124257, 81129736-81129773, 81129797-81129799, 81129803-81129808, 81129853-81129855, 81129861-81129874
174MLYCD160.9777327935222733148283932976-83932995, 83933090-83933100, 83933114-83933115
175FOXF1160.997368421052633114086544211-86544213
176FOXC2160.91102257636122134150686601117-86601119, 86601504-86601518, 86601530, 86601597-86601608, 86601632-86601681, 86601771-86601794, 86601868, 86602156, 86602178-86602203, 86602214
177JPH3160.9599465954606190224787723305-87723318, 87723369-87723379, 87723406, 87723467, 87723480, 87723489, 87723492, 87723503, 87723518, 87723533, 87723596, 87723609-87723614, 87723662-87723665, 87723677-87723682, 87723716, 87723720-87723724, 87723771-87723775, 87723898-87723900, 87723924-87723949
178CYBA160.826530612244910258888709761-88709774, 88709777, 88709780-88709790, 88709796-88709811, 88709826-88709828, 88709835-88709873, 88709917-88709918, 88709963, 88709972, 88709975, 88712583-88712590, 88717364, 88717373-88717374, 88717378, 88717386
179APRT160.878453038674036654388876198, 88876218, 88876498-88876501, 88876522-88876556, 88878057-88878064, 88878253-88878257, 88878267, 88878297-88878307
180GALNS160.90885914595284143156988884430-88884456, 88884473-88884497, 88884503-88884504, 88888997-88889020, 88889082-88889102, 88891176-88891182, 88891252, 88891259, 88891277, 88907421, 88909147, 88923166-88923192, 88923203, 88923216, 88923262-88923264
181FANCA160.97504578754579109436889805099, 89805103-89805116, 89836582, 89837000-89837003, 89837016, 89837021, 89837038-89837042, 89842160-89842198, 89882945-89882970, 89882995-89883011
182TUBB3160.89430894308943143135389989810-89989811, 89989814, 89989827-89989830, 89989846-89989866, 90001508-90001518, 90001534-90001560, 90001630-90001636, 90001728-90001779, 90001855, 90001980-90001986, 90002190-90002199
183CTNS170.99334995843724812033559800, 3559995-3560001
184CHRNE170.7510121457489936914824802053-4802058, 4802071, 4802145-4802149, 4802185-4802186, 4802303-4802331, 4802340-4802350, 4802367-4802383, 4802398, 4802518-4802519, 4802536-4802538, 4802573-4802579, 4802606-4802672, 4802763-4802778, 4802806-4802822, 4802872, 4804088-4804100, 4804119-4804120, 4804124-4804127, 4804289, 4804295-4804304, 4804338-4804367, 4804395, 4804398-4804400, 4804423, 4804434-4804442, 4804450-4804484, 4804862-4804868, 4805237-4805243, 4805291, 4805317-4805324, 4805333, 4805355-4805357, 4805525-4805547, 4805766-4805789, 4805959
185AIPL1170.9974025974026311556331789-6331791
186PITPNM3170.984957264957264429256358658-6358659, 6374559-6374568, 6374624, 6374635, 6376106-6376112, 6377827, 6459705-6459726
187CHRNB1170.99933598937583115067348625
188MYH3170.999828267216211582310554982
189FLCN170.9908045977011516174017131219, 17131232-17131246
190RAI1170.999475616151023572117697094-17697096
191MYO15A170.921740772208068291059318022300-18022315, 18022358, 18022390-18022392, 18022604-18022607, 18022741, 18023158-18023159, 18023164, 18023240, 18023243, 18023246-18023261, 18023651-18023652, 18023687-18023693, 18023703-18023761, 18023788-18023791, 18023886-18023903, 18023911, 18023922-18023927, 18023940-18023957, 18023981-18023990, 18024017-18024055, 18024087-18024088, 18024093-18024130, 18024148, 18024154-18024167, 18024193-18024227, 18024241-18024255, 18024278-18024380, 18024394-18024421, 18024440-18024473, 18024496-18024517, 18024535-18024634, 18024656-18024687, 18024793-18024794, 18024824-18024860, 18024889-18024897, 18024921-18024922, 18024955, 18024980-18024983, 18024987, 18025020, 18025054, 18025150-18025153, 18025219-18025243, 18025314-18025368, 18025380, 18025414-18025427, 18025621-18025624, 18025632, 18025702, 18025707-18025708, 18027862-18027863, 18028485-18028492, 18029690-18029696, 18044968-18044973, 18051811-18051813, 18061111-18061114
192SLC6A4170.9778129952456442189328543131-28543137, 28543176-28543196, 28543221-28543234
193HNF1B170.998207885304663167436059090, 36059093-36059094
194KRT10170.99886039886042175538975328, 38978536
195KRT14170.81042988019732269141939738757-39738763, 39739487-39739515, 39739531-39739547, 39739621-39739627, 39741304-39741309, 39742565, 39742574, 39742580, 39742627-39742648, 39742682, 39742757-39742763, 39742784-39742836, 39742850-39742852, 39742883-39742939, 39742961-39742973, 39742995-39743017, 39743043-39743054, 39743078-39743086
196KRT16170.72644163150492389142239766192-39766202, 39766219-39766248, 39766263-39766281, 39766761-39766767, 39767423-39767429, 39767597, 39767642-39767648, 39767695-39767717, 39767738-39767753, 39767904-39767911, 39768412-39768453, 39768490-39768496, 39768564-39768578, 39768647-39768664, 39768692-39768698, 39768706-39768753, 39768765-39768800, 39768816-39768855, 39768865-39768908, 39768938-39768940
197KRT17170.66820631254811431129939775859-39775865, 39776922, 39776928, 39776938, 39776980, 39776983-39776984, 39776993, 39777013, 39777080-39777086, 39777224-39777245, 39777883-39777923, 39777974-39778004, 39778705-39778725, 39779202-39779249, 39779262-39779284, 39780340-39780387, 39780434-39780457, 39780486, 39780515-39780567, 39780584-39780640, 39780654, 39780673, 39780693-39780730
198FKBP10170.993710691823911174939969327-39969331, 39969351, 39977259-39977263
199STAT5B170.999576988155671236440371444
200STAT3170.9913532209252120231340474419, 40475025, 40483507, 40485911, 40485959-40485974
201NAGLU170.9861111111111131223240688388, 40688394-40688402, 40688409-40688410, 40688454-40688464, 40688541-40688545, 40690501-40690503
202WNK4170.99946409431942373240947191, 40947237
203MAPT170.9802659802659846233144055743-44055781, 44055794-44055795, 44055798-44055800, 44061081, 44061243
204WNT3170.995318352059935106844895898-44895901, 44895906
205COL1A1170.9906712172923841439548266819-48266825, 48276608-48276641
206RAD51C170.99469496021226113156770057, 56772354-56772355, 56772414, 56787224, 56787298
207BRIP1170.9962666666666714375059885915-59885928
208ACE170.9915837796480533392161554458, 61554461-61554469, 61554493-61554496, 61554513, 61554530-61554534, 61554652-61554654, 61554657-61554664, 61558547-61558548
209GH1170.99847094801223165461995413
210DNAI2170.9977997799784181872295857-72295860
211TSEN54170.82163187855787282158173512642-73512693, 73512827-73512857, 73512875-73512923, 73512943-73512977, 73513090-73513127, 73513146-73513153, 73517536, 73517928-73517929, 73517949, 73517957, 73517966, 73518011-73518012, 73518301, 73518319-73518321, 73518342-73518395, 73518399, 73518402, 73519383
212ITGB4170.9939659901261733546973747128, 73749963-73749966, 73751782, 73751790, 73751913-73751921, 73752634-73752640, 73752865, 73753063, 73753087, 73753092, 73753106-73753107, 73753344-73753345, 73753386, 73753575
213GALK1170.9287531806615884117973754137-73754146, 73754191-73754193, 73754323, 73754326-73754330, 73754370-73754412, 73754537-73754538, 73754555, 73754571, 73754584-73754586, 73754632-73754638, 73754675-73754680, 73758792-73758793
214UNC13D170.94928200427742166327373824998-73824999, 73825046-73825064, 73826452-73826463, 73826467, 73827196, 73827376-73827412, 73829048, 73832300-73832302, 73832323, 73832736-73832750, 73832769-73832771, 73836118-73836126, 73838986-73839002, 73839136-73839154, 73839254-73839267, 73839272, 73839307-73839313, 73839331-73839334
215SEPT9170.86428165814878239176175478289, 75478348-75478353, 75478392-75478395, 75483583-75483620, 75484345, 75484896-75484938, 75486857, 75488703-75488730, 75493397-75493400, 75494605-75494654, 75494678-75494740
216GAA170.82861140258832490285978078390, 78078393-78078394, 78078465-78078467, 78078484-78078486, 78078515-78078516, 78078532-78078534, 78078559-78078562, 78078574, 78078592-78078616, 78078625-78078626, 78078709, 78078722-78078726, 78078729, 78078733, 78078738, 78078768-78078797, 78078905-78078921, 78079634-78079636, 78079645, 78081398-78081423, 78081503-78081511, 78081634, 78081674-78081693, 78082089-78082097, 78082101-78082104, 78082151-78082191, 78082339, 78082354-78082396, 78082567, 78082571, 78082584-78082625, 78083753-78083779, 78083819-78083820, 78083826-78083830, 78083846, 78084538-78084564, 78084581-78084629, 78084740-78084743, 78084746-78084750, 78084822, 78085830, 78085841, 78086377-78086378, 78086392-78086395, 78086455-78086471, 78086483, 78086685-78086695, 78086808-78086809, 78087029, 78090869-78090876, 78091538-78091540, 78092152-78092156, 78092570-78092578
217ACTG1170.994680851063836112879477716-79477718, 79477994, 79478514-79478515
218FSCN2170.45571331981068805147979495565-79495578, 79495607, 79495723-79495798, 79495823-79495840, 79495909, 79495917-79495920, 79495930-79495932, 79495947-79495954, 79495977-79496005, 79496036-79496081, 79496092-79496131, 79496134-79496145, 79496149-79496151, 79496156-79496158, 79496162-79496164, 79496234, 79496318-79496338, 79496344-79496383, 79502078-79502098, 79502126-79502173, 79502200, 79502215-79502229, 79503183-79503237, 79503243-79503280, 79503293, 79503678-79503684, 79503689-79503731, 79503741-79503780, 79503789-79503815, 79503901-79503979, 79504000-79504106
219MC2R180.99888143176734189413884642
220LAMA3180.99990001999611000221427525
221DSC3180.998885172798223269128598041-28598043
222DSG2180.9862972892463546335729078215-29078259, 29104430
223MYO5B180.998738056607187554747364149-47364155
224CCBE1180.9754299754299830122157364544-57364573
225TNFRSF11A180.9697460831982756185159992594-59992649
226CTDP1180.9753984753984871288677439961-77439964, 77439992-77440019, 77440025-77440033, 77440061-77440072, 77440216-77440222, 77513721-77513731
227ELANE190.3818407960199497804852331-852333, 852338, 852351-852369, 852876-852889, 852919-853032, 853262-853403, 855566-855572, 855597-855629, 855674-855683, 855686-855688, 855700, 855709-855752, 855764-855781, 855958-855959, 855970-855972, 855981-855992, 856018-856041, 856066, 856119-856164
228KISS1R190.95739348370927511197917526, 917540, 917557, 917563, 917584, 918555-918559, 918575-918592, 918625, 918631-918641, 918667-918668, 920003, 920313, 920376-920377, 920579, 920707-920709, 920712
229STK11190.3003072196620691113021206913-1206941, 1207191-1207202, 1218418-1218419, 1218474-1218494, 1219323-1219412, 1220372-1220490, 1220503-1220504, 1220580-1220685, 1220697-1220716, 1221212-1221228, 1221236-1221299, 1221308-1221339, 1221948-1222005, 1222984-1223025, 1223069-1223171, 1226453-1226646
230NDUFS7190.86915887850467846421383926-1383927, 1383932, 1387815-1387836, 1388526, 1388890-1388896, 1391118, 1395392, 1395402, 1395424-1395471
231GAMT190.91111111111111728101398711-1398713, 1398804, 1398808-1398822, 1399846-1399852, 1399932-1399933, 1401398-1401434, 1401447-1401453
232RAX2190.91171171171171495553770662-3770663, 3770681, 3770784, 3770791, 3770811-3770816, 3770823, 3771594-3771619, 3771669-3771679
233MAP2K2190.8121363258520422612034097280-4097295, 4097327-4097341, 4099199-4099208, 4099222-4099235, 4099240-4099254, 4099258, 4099264, 4099317-4099334, 4099369-4099390, 4101141, 4110559, 4117461, 4117557-4117575, 4123781-4123872
234C3190.982371794871798849926697406, 6707087-6707091, 6707122, 6707126, 6707138-6707164, 6709714-6709725, 6709773-6709778, 6709848, 6714028-6714056, 6714216-6714220
235INSR190.989154013015184541497132180, 7132292-7132304, 7142844, 7142852-7142856, 7150514, 7152757-7152775, 7152783-7152785, 7152844, 7152924
236MCOLN1190.982214572576023117437594492-7594494, 7594520, 7594525-7594526, 7594531, 7598502-7598525
237PNPLA6190.9641064257028114339847604835-7604841, 7606919-7606941, 7607772, 7607795-7607803, 7607926, 7615248-7615272, 7615308-7615315, 7615888-7615916, 7615929-7615959, 7616267-7616275
238ADAMTS10190.99849033816425533128670168-8670172
239TYK2190.87991021324355428356410461510-10461516, 10461779-10461787, 10461838, 10463110-10463155, 10463212, 10463617, 10463625, 10463635-10463642, 10463652-10463657, 10463671-10463672, 10463681, 10463688, 10463699, 10463716, 10463720-10463722, 10463756-10463774, 10464204-10464222, 10464296-10464304, 10464778, 10464804, 10467247-10467251, 10468440-10468442, 10468473, 10468531-10468575, 10468681-10468702, 10468733, 10469965, 10475296-10475308, 10475312-10475319, 10475544-10475561, 10475710-10475712, 10476216, 10476221-10476222, 10476295, 10476332, 10476357-10476367, 10476421-10476425, 10476432-10476439, 10476475-10476497, 10477094-10477100, 10477208, 10478801, 10479077-10479084, 10488890-10488897, 10488902-10488906, 10488917-10488929, 10488932-10488933, 10488939, 10488964, 10488992-10489035, 10489046-10489054, 10489065-10489082
240DNM2190.9881362418675931261310870414-10870423, 10870432, 10893779-10893789, 10897372-10897379, 10912977
241LDLR190.9752226093689564258311216243-11216249, 11218154-11218166, 11224079, 11224085-11224109, 11224298-11224315
242LDLR190.99298245614035228511242116-11242117
243PRKCSH190.998109640831763158711558341-11558343
244MAN2B1190.9858366271409743303612766681-12766689, 12767813-12767817, 12767848-12767849, 12768289-12768305, 12768335-12768340, 12768948, 12777469-12777471
245CACNA1A190.9868368568009699752113318448-13318451, 13318566-13318572, 13318595, 13318642-13318716, 13318768, 13319607-13319613, 13319692-13319694, 13409854
246NOTCH3190.988659201837579696615302557-15302558, 15311615, 15311619-15311621, 15311625-15311633, 15311643-15311702, 15311713-15311716
247JAK3190.9967407407407411337517940954-17940960, 17949087-17949090
248IL12RB1190.9839115133232832198918197580-18197605, 18197617-18197622
249COMP190.9942832014072113227418896845-18896847, 18901659-18901668
250CEBPA190.85422469823584157107733792857-33792859, 33792866-33792869, 33792878, 33792909-33792919, 33792924-33792925, 33792928-33792930, 33792945-33792949, 33792989-33793036, 33793177-33793208, 33793212, 33793225-33793245, 33793265, 33793268, 33793297-33793320
251SCN1B190.967781908302352680735521725-35521738, 35521742, 35521752-35521762
252MAG190.84688995215311288188135790457-35790459, 35790481-35790526, 35790548-35790571, 35790620-35790653, 35790672-35790678, 35790695-35790753, 35791084-35791157, 35791176, 35791201-35791238, 35793412, 35793468
253TYROBP190.811209439528026433936398122-36398136, 36398365-36398366, 36398371, 36398437-36398440, 36399074-36399115
254RYR1190.984983793080642271511739055699-39055741, 39055769, 39055772-39055773, 39055784, 39055789-39055790, 39055835, 39055846, 39055864, 39055872, 39055905-39055970, 39055977-39056038, 39056162-39056164, 39056209, 39056213-39056254
255ACTN4190.90423976608187262273639138411, 39138415-39138438, 39138451, 39138458-39138540, 39208615-39208618, 39208703-39208714, 39214597-39214608, 39214695, 39214803-39214810, 39214912-39214913, 39214961-39214979, 39215109-39215150, 39216374-39216382, 39216476-39216479, 39219708-39219716, 39219789-39219794, 39219970-39219994
256PRX190.997948016415879438640909622-40909630
257TGFB1190.88576300085251134117341837032, 41837054-41837055, 41837066-41837076, 41837080-41837083, 41837092, 41837101-41837115, 41838166-41838184, 41847817, 41847825-41847827, 41848090-41848104, 41850673, 41850680, 41850704, 41850720-41850757, 41854247-41854249, 41854345-41854357, 41858711, 41858937-41858940
258BCKDHA190.9925261584454410133841919968-41919977
259ATP1A3190.9945622620989720367842470849-42470850, 42470861-42470877, 42470927
260BCAM190.9761526232114545188745312427-45312463, 45324041-45324048
261APOE190.9958071278826495445412374-45412377
262ERCC2190.9689005694261971228345856391-45856393, 45867001-45867011, 45867251-45867259, 45867493, 45867541, 45867691-45867698, 45868096-45868103, 45872328-45872332, 45873447-45873471
263SIX5190.89954954954955223222046268859, 46268959, 46268974-46268976, 46269259, 46269293, 46269857-46269864, 46270016-46270022, 46270150-46270193, 46270212, 46270407, 46271308, 46271344, 46271723-46271729, 46271819-46271827, 46271837-46271840, 46271853-46271858, 46271885-46271906, 46271937-46271990, 46272027-46272050, 46272060-46272086
264DMPK190.9634920634920669189046274248, 46281096, 46281128, 46281858-46281862, 46281865, 46283089-46283090, 46283093, 46285531-46285551, 46285575-46285610
265FKRP190.9858870967741921148847259364-47259377, 47259722-47259728
266DBP190.5685071574642142297849134094-49134101, 49134116, 49134123-49134134, 49134169, 49134172, 49134212-49134214, 49134217, 49134248-49134250, 49138837-49138925, 49138933-49139198, 49139226-49139232, 49140179-49140208
267GYS1190.997741644083115221449494629-49494630, 49494668, 49496320, 49496326
268MED25190.9946524064171112224450321626-50321631, 50321831-50321835, 50339495
269MYH14190.9862542955326584611150728918-50728925, 50750352-50750355, 50764732-50764733, 50764764-50764784, 50764794-50764829, 50764892, 50766626-50766637
270KCNC3190.93051890941073158227450826294, 50826391-50826394, 50831995-50832002, 50832152, 50832196-50832339
271NLRP12190.998744507219084318654313661-54313663, 54313679
272PRKCG190.999044890162372209454409571-54409572
273PRPF31190.45866666666667812150054621704-54621748, 54621786-54621788, 54621975-54621993, 54625285, 54625297-54625322, 54625946-54625948, 54626833-54626834, 54626872-54626890, 54626921-54626927, 54627128-54627167, 54627878-54627905, 54627915-54627930, 54627958-54627960, 54627963, 54627970-54627982, 54628007-54628009, 54629903-54629907, 54629955-54629992, 54631448-54631575, 54631680-54631752, 54632432-54632469, 54632485-54632560, 54632647-54632745, 54634738-54634863
274NLRP7190.999678869621071311455451050
275TNNT1190.948035487959444178955644283, 55645255-55645267, 55652261-55652287
276TPO20.9086366880799425628021480868, 1481009-1481013, 1481016, 1481097, 1481123, 1488536, 1488543, 1497605, 1497658-1497668, 1499768-1499770, 1499963, 1500392, 1520655-1520754, 1544366-1544382, 1544391-1544487, 1546233-1546246
277RPS720.998290598290615853623210
278KLF1120.9727095516569242153910183844-10183885
279HADHA20.9882198952879627229226414415-26414441
280OTOF20.9966633299966620599426693554-26693556, 26697426-26697427, 26697430-26697432, 26697459, 26699829, 26699837, 26699891, 26699897, 26699904-26699906, 26700053, 26700296, 26702375, 26702430
281SPAST20.9945975148568310185132289020, 32289217, 32340849, 32341203-32341209
282CYP1B120.999387254901961163238302234
283SOS120.997751124437789400239224108, 39224435-39224438, 39224494, 39262355, 39285837-39285838
284ABCG820.998021760633044202244099231-44099233, 44101094
285MSH620.994856722997821408348010475-48010478, 48010556-48010558, 48010565, 48010620-48010632
286PEX1320.999174917491751121261275859
287SPR20.986005089058521178673114582, 73114617, 73114691, 73114791, 73114799-73114805
288ALMS120.99880038387716151250473613032-73613037, 73786204, 73827996-73828002, 73828342
289MOGS20.93396976929196166251474688438-74688439, 74688960, 74689002-74689011, 74689263-74689265, 74689818-74689856, 74690086, 74690126-74690127, 74690457-74690458, 74691696-74691702, 74692197-74692210, 74692230-74692274, 74692290-74692329
290SFTPB20.999127399650961114685889198
291REEP120.965346534653472160686564613-86564633
292EIF2AK320.998209489704576335188926730-88926735
293TMEM12720.99860529986053171796930998
294RANBP220.96661498708013239675109345588-109345589, 109347230, 109347799-109347811, 109352139-109352154, 109352560, 109357110-109357116, 109363167-109363197, 109367868-109367881, 109368046-109368052, 109368090-109368119, 109368327-109368328, 109368373-109368387, 109371632-109371662, 109374952, 109378557, 109378582-109378628, 109378650-109378651, 109380485-109380487, 109382686-109382708, 109382787-109382793, 109383354-109383360, 109383753-109383774, 109384628-109384667
295NPHP120.9955752212389492034110907759-110907762, 110917778-110917780, 110922656-110922657
296GLI220.9983196807393484761121746164-121746165, 121746232-121746236, 121746239
297PROC20.99711399711441386128180742-128180745
298CFC120.70238095238095200672131279609, 131279632, 131279640-131279642, 131280363-131280398, 131280414-131280460, 131280742-131280752, 131280774-131280816, 131280844, 131280847, 131285309-131285337, 131285365, 131285391-131285416
299LCT20.9993084370677745784136558238-136558239, 136558244, 136570398
300NEB20.998447982377093119974152432732-152432737, 152432742-152432746, 152432757, 152432783-152432801
301GALNT320.98475289169295291902166615968, 166621451-166621473, 166627002-166627003, 166627071-166627073
302SCN1A20.9988327497081975997166848838-166848844
303CHN120.9942028985507281380175869626-175869633
304DFNB5920.997167138810231059179325164-179325166
305TTN20.9998703216024313100248179419749, 179456919-179456927, 179542520, 179563640-179563641
306CERKL20.97060662914321471599182468673-182468707, 182468772-182468783
307HSPD120.9849012775842261722198351835-198351853, 198351876-198351882
308OBSL120.99648567914251205691220435738-220435757
309D2HGDH20.916347381864621311566242695309-242695315, 242707146-242707193, 242707199-242707207, 242707221, 242707253-242707254, 242707262-242707265, 242707291, 242707308-242707361, 242707380-242707384
310AVP200.9878787878787964953063409, 3063422, 3063425, 3063429, 3063643-3063644
311PRNP200.9986876640419917624680070
312JAG1200.997812414547448365710621527-10621534
313SNTA1200.963109354413756151832031176, 32031310-32031358, 32031383-32031387, 32031399
314HNF4A200.9698245614035143142543052764-43052768, 43052857-43052894
315CTSA200.997995991983973149744520238-44520240
316GNAS200.99728997289973273857415223-57415224
317GNAS200.999678869621071311457429751
318COL9A3200.92165450121655161205561448417-61448468, 61448483-61448494, 61448933-61448936, 61448967-61448971, 61451289-61451298, 61451312, 61452544, 61453109, 61453112, 61453121-61453122, 61453125, 61453466, 61453957-61453969, 61456320-61456321, 61456357-61456373, 61460812-61460816, 61461724, 61461869-61461871, 61461900-61461923, 61463522, 61463529, 61467607, 61468584-61468585
319CHRNA4200.57430997876858802188461978090, 61978093-61978101, 61978190-61978201, 61981018, 61981057, 61981060, 61981073-61981092, 61981123-61981156, 61981159-61981168, 61981257-61981300, 61981312, 61981342-61981361, 61981367-61981374, 61981406-61981418, 61981426-61981482, 61981560-61981570, 61981577-61981617, 61981699, 61981708-61981763, 61981769-61981786, 61981846-61981852, 61981928-61981935, 61981946-61981947, 61981959-61981961, 61981985, 61982004, 61982007-61982010, 61982029-61982055, 61982078, 61982085, 61982090, 61982097, 61982124, 61982134, 61982138-61982141, 61982167, 61982238-61982245, 61987327-61987366, 61987379-61987436, 61987723-61987767, 61990900-61991051, 61992442-61992517
320KCNQ2200.62772050400916975261962038014-62038020, 62038056-62038071, 62038077-62038080, 62038243-62038265, 62038275-62038278, 62038284-62038285, 62038311-62038340, 62038346-62038354, 62038375-62038379, 62038408-62038429, 62038462-62038503, 62038570-62038573, 62038690-62038697, 62039769-62039796, 62039801, 62039871, 62046326-62046340, 62065186-62065191, 62069993-62069997, 62070045-62070049, 62070952-62070989, 62071017-62071021, 62073759-62073786, 62073793-62073833, 62073846-62073867, 62076012-62076042, 62076063-62076128, 62076173-62076187, 62076591-62076717, 62078100-62078119, 62078125-62078173, 62103521-62103816
321SOX18200.55497835497835514115562679551, 62679557, 62679565, 62679751-62679754, 62679846, 62679868-62679871, 62679949-62679990, 62680017-62680035, 62680047, 62680054-62680058, 62680062-62680066, 62680084-62680095, 62680106-62680110, 62680161, 62680173-62680177, 62680194-62680196, 62680211-62680214, 62680240-62680255, 62680282-62680291, 62680300-62680315, 62680512-62680869
322IFNGR2210.9635108481262337101434775850-34775872, 34775886-34775899
323AIRE210.66300366300366552163845705890-45705941, 45705963-45706004, 45706440-45706469, 45706488-45706515, 45706896, 45706979, 45707428, 45708264-45708276, 45708279, 45708293, 45709642, 45709651-45709659, 45709927-45709951, 45712235, 45712247, 45712276-45712284, 45712891-45712916, 45712929, 45712935, 45712949-45712951, 45712955, 45712958, 45712962-45712965, 45712972-45712991, 45713018-45713027, 45713034, 45713040-45713044, 45713051-45713058, 45713672-45713710, 45713748-45713761, 45714284-45714386, 45716266-45716328, 45717543-45717553, 45717563-45717564, 45717576-45717597, 45717610
324ITGB2210.9597402597402693231046308608-46308620, 46308624-46308633, 46308638-46308645, 46308680-46308682, 46308742-46308749, 46308774-46308784, 46311726-46311733, 46311737, 46326847-46326869, 46330687-46330694
325COL18A1210.744159544159541347526546875688-46875693, 46876209-46876250, 46876514, 46876535, 46876573, 46876577-46876586, 46876589, 46876607-46876627, 46876640-46876674, 46876746, 46893879-46893888, 46896365, 46906778-46906821, 46906855-46906885, 46906900, 46907404, 46909418-46909435, 46910189-46910219, 46910235-46910260, 46910750-46910781, 46911139-46911167, 46911173-46911197, 46911210-46911225, 46913077-46913111, 46913120-46913139, 46913421, 46913432-46913436, 46913440-46913444, 46913453-46913489, 46914459-46914463, 46914776-46914787, 46914800, 46914817-46914829, 46915272-46915284, 46915323-46915346, 46916425, 46916439-46916482, 46916972-46917006, 46917532, 46917543, 46917557-46917575, 46923925-46923968, 46924330-46924339, 46924404-46924470, 46925048-46925076, 46925085-46925129, 46925137, 46925173-46925192, 46925281-46925345, 46925752-46925763, 46925769, 46925793-46925799, 46925829-46925853, 46925859-46925880, 46927475-46927480, 46929270-46929271, 46929288, 46929303, 46929308-46929314, 46929349, 46929361-46929367, 46929474-46929508, 46929989-46930074, 46930104-46930110, 46930115, 46930140-46930150, 46931025-46931066, 46931076-46931090, 46931116-46931140, 46932102-46932136, 46932177-46932178, 46932181, 46932207-46932240, 46932246-46932260, 46932277-46932285
326COL6A1210.60641399416911215308747401765-47401861, 47402548-47402612, 47402628-47402677, 47404183-47404188, 47404194-47404197, 47404221-47404292, 47404303, 47404311-47404383, 47406440-47406481, 47406505-47406599, 47406858-47406986, 47407069-47407089, 47407413-47407433, 47407524-47407568, 47408998-47409051, 47409522-47409530, 47409536-47409547, 47409666-47409683, 47409689-47409692, 47410172-47410198, 47410292-47410336, 47410721-47410740, 47410910, 47410917-47410938, 47410952-47410955, 47411924-47411925, 47411929-47411930, 47412285-47412309, 47412701, 47414081-47414143, 47417335, 47417393-47417397, 47417614-47417627, 47417641-47417658, 47418064-47418085, 47418811-47418815, 47418864-47418873, 47419067-47419072, 47419123-47419129, 47419132, 47419571-47419575, 47419597-47419606, 47420246, 47422540, 47422577-47422612, 47423483-47423522, 47423654-47423656
327COL6A2210.536601307189541418306047531444-47531467, 47531477-47531505, 47531893, 47531898, 47531918-47531952, 47531996, 47532146-47532147, 47532151-47532152, 47532241-47532274, 47532311, 47533948, 47533987, 47535923-47535928, 47536688-47536716, 47537314-47537333, 47537791-47537828, 47537837-47537849, 47538532-47538536, 47538558-47538559, 47538568-47538587, 47538944-47538989, 47539007-47539033, 47539719-47539764, 47540429-47540437, 47540465, 47540479-47540491, 47541004, 47541011, 47541025, 47541035, 47541481-47541518, 47542022-47542072, 47542410-47542421, 47542789-47542800, 47542808, 47542813, 47542822-47542851, 47544567-47544573, 47544799-47544804, 47544810, 47544814, 47544817-47544819, 47545180-47545191, 47545419-47545468, 47545515-47545531, 47545699-47545701, 47545714-47545726, 47545747-47545793, 47545850-47545851, 47545886-47545892, 47545902-47545987, 47545993-47546034, 47546054-47546081, 47546114-47546144, 47546445-47546453, 47551868-47551891, 47551900-47551966, 47551982-47552143, 47552149-47552185, 47552200, 47552209, 47552222, 47552236-47552358, 47552366-47552376, 47552380-47552398, 47552407-47552424, 47552434-47552466
328COL6A2210.2163742690058526834247552183-47552185, 47552200, 47552209, 47552222, 47552236-47552358, 47552366-47552376, 47552380-47552398, 47552407-47552424, 47552434-47552524
329FTCD2101626162647556901-47556987, 47557153-47557248, 47558422-47558560, 47558794-47558837, 47565331-47565492, 47565732-47565861, 47566180-47566241, 47570033-47570164, 47570302-47570439, 47571472-47571651, 47571806-47571894, 47572821-47572949, 47574063-47574246, 47575384-47575437
330PCNT210.99620417540705381001147744143-47744166, 47744184-47744196, 47818044
331PRODH220.93899057127011110180318904414, 18908875, 18923528-18923602, 18923617, 18923645, 18923660-18923674, 18923785-18923800
332GP1BB220.5684380032206126862119711377-19711395, 19711433-19711466, 19711475-19711479, 19711566-19711568, 19711573-19711583, 19711637-19711652, 19711668-19711726, 19711737-19711763, 19711773-19711775, 19711785-19711787, 19711790-19711832, 19711856-19711861, 19711867-19711883, 19711897-19711918
333TBX1220.87836021505376181148819747182-19747183, 19748428-19748578, 19753505-19753506, 19753929-19753946, 19754295-19754298, 19754306-19754309
334SMARCB1220.9879101899827314115824129435, 24129438, 24135841, 24175825-24175835
335CHEK2220.9710391822827951176129083942-29083965, 29085158-29085171, 29126408-29126415, 29126464-29126467, 29126478
336LARGE220.9920739762219318227133670415-33670432
337MYH9220.9942206357300734588336697592, 36698672-36698680, 36702040-36702054, 36702468-36702476
338TRIOBP220.96252465483235266709838119829-38119835, 38119891-38119897, 38119976-38119982, 38120026-38120068, 38120193-38120199, 38120300, 38120794-38120800, 38121472, 38121749-38121752, 38121758, 38122251, 38122255, 38122449, 38122480-38122481, 38122500, 38129342-38129354, 38129358-38129360, 38129363, 38129391-38129398, 38130526-38130542, 38130606-38130607, 38130679, 38130729-38130763, 38130864-38130870, 38130900-38130917, 38130946, 38130949-38130959, 38131025, 38131028-38131050, 38131053-38131055, 38131225-38131226, 38131230, 38131238, 38131265-38131269, 38131392-38131402, 38131412-38131413, 38131436, 38147782-38147788, 38153847
339PLA2G6220.1983640081799639248938508274-38508292, 38508298-38508312, 38508511-38508542, 38508552-38508584, 38509494-38509523, 38509531-38509665, 38509687-38509714, 38509736-38509738, 38509744-38509761, 38509775-38509779, 38509782-38509832, 38509847-38509869
340PLA2G6220.73482032218092642242138508168-38508176, 38508182-38508231, 38508238, 38508241-38508292, 38508298-38508312, 38508511-38508542, 38508552-38508584, 38509494-38509523, 38509531-38509661, 38511534-38511562, 38511586-38511642, 38511655-38511679, 38512082-38512101, 38512147-38512166, 38512184-38512185, 38512198-38512218, 38519102-38519128, 38519142-38519145, 38519149-38519167, 38519172-38519176, 38519211-38519221, 38519248-38519265, 38522379-38522389, 38522449-38522452, 38522455-38522456, 38524310-38524317, 38524367, 38524406, 38524434, 38528904-38528906
341TNFRSF13C220.695495495495516955542322105-42322115, 42322156-42322179, 42322206-42322236, 42322247-42322256, 42322263-42322268, 42322288-42322300, 42322327-42322335, 42322645-42322652, 42322676-42322699, 42322716-42322728, 42322758-42322777
342CYB5R3220.979028697571741990643045303-43045321
343TRMU220.973933649289133126646731685-46731693, 46731720-46731743
344ALG12220.995228357191557146750301580-50301582, 50303736, 50307118, 50307137, 50307291
345MLC1220.9453262786596162113450502467-50502494, 50502541-50502544, 50502589-50502618
346SCO2220.975031210986272080150962527-50962537, 50962760-50962768
347TYMP220.81090407177364274144950964201-50964202, 50964247-50964264, 50964273, 50964289-50964326, 50964430-50964467, 50964493-50964533, 50964543-50964562, 50964701-50964728, 50964746-50964752, 50964793-50964820, 50964841-50964848, 50964862, 50964875-50964878, 50964890-50964905, 50965039-50965045, 50965121-50965134, 50967754-50967756
348ARSA220.997375328083994152451063823-51063826
349SHANK3220.745232646834481336524451113070-51113132, 51113476-51113648, 51113654-51113679, 51115050-51115060, 51115092-51115121, 51117013-51117048, 51117061-51117121, 51117197-51117206, 51117222-51117348, 51117447-51117566, 51117575-51117614, 51117740-51117856, 51121768-51121845, 51123013-51123079, 51133247-51133253, 51133290, 51133296, 51133325-51133327, 51133356-51133382, 51133452-51133460, 51135671-51135693, 51135712, 51135717, 51135951-51136143, 51137135, 51137206-51137224, 51158849-51158855, 51158962-51158965, 51158968, 51158979, 51159029, 51159032-51159036, 51159070-51159083, 51159144-51159150, 51159235-51159236, 51159300-51159303, 51159418-51159419, 51159459-51159460, 51169336, 51169427-51169428, 51169433-51169435, 51169531-51169533, 51169575-51169577, 51169634-51169654, 51169681-51169685, 51169687, 51169711-51169712
350ITPR130.99987704414115181334712542
351FANCD230.9934329710144929441610088340-10088346, 10114941-10114955, 10115015-10115021
352BTD30.999387254901961163215686693
353SCN5A30.9906605535744655588938616796-38616800, 38616810, 38639329-38639336, 38647599-38647614, 38648160-38648163, 38651395, 38651432-38651450, 38651453
354TMIE30.7821350762527210045946742937-46743022, 46743054-46743067
355TMIE30.868365180467096247146742978-46743022, 46743054-46743067, 46751074-46751076
356TREX130.992792792792798111048508027, 48508323-48508329
357COL7A130.999773627617432883548617774, 48627113
358SLC25A2030.961368653421633590648936126-48936157, 48936187-48936189
359LAMB230.9959236612933122539749159148, 49160331-49160332, 49160757, 49162039, 49162474, 49162689-49162694, 49162850, 49167073, 49167374, 49167836-49167839, 49168970, 49169933, 49170290
360GNAT130.999050332383671105350232366
361RFT130.999384993849941162653156497
362FLNB30.9937251888846249780957994488-57994536
363ATXN730.95983086680761114283863898361-63898363, 63898381, 63898394, 63898419-63898438, 63898455-63898542, 63898576
364PROS130.9926144756277715203193595948, 93605199-93605205, 93617388-93617394
365ARL13B30.8982128982129131128793758724, 93758728, 93761878-93761884, 93761912-93761925, 93761931-93761941, 93761968-93762013, 93762015-93762016, 93762019, 93762028-93762074, 93769716
366ARL630.932263814616763856197499048-97499062, 97503817, 97503820-97503821, 97503829-97503831, 97506871-97506873, 97506925-97506938
367CPOX30.99780219780223136598312143-98312144, 98312147
368IQCB130.9977740678909341797121526204-121526207
369UMPS30.99792099792131443124456871-124456873
370ACAD930.802250803858523691866128614215-128614227, 128616497-128616532, 128618142-128618144, 128618151-128618160, 128618203, 128618209, 128618215, 128618248-128618267, 128618300-128618304, 128620119-128620137, 128620141, 128620177-128620192, 128621415, 128621446-128621469, 128622905-128622943, 128622961-128622975, 128623229-128623238, 128623259, 128623269-128623271, 128623281-128623297, 128623326-128623332, 128624964, 128624970, 128625026, 128625090-128625092, 128627028-128627037, 128627062, 128627065-128627070, 128627077, 128627816, 128627849, 128627863-128627881, 128627911, 128628188-128628195, 128628251-128628260, 128628873-128628879, 128628887, 128628964-128628992, 128629623, 128629635, 128631419-128631421, 128631431-128631450
371RHO30.9980897803247421047129251446-129251447
372NPHP330.99549211119459183993132438644-132438649, 132441084-132441095
373FOXL230.97701149425287261131138664866-138664891
374HPS330.99502487562189153015148847600, 148847717-148847720, 148878008, 148878013-148878019, 148878022-148878023
375BCHE30.9994472084024311809165548695
376ALG330.95444191343964601317183966601, 183966613-183966671
377CLCN230.98591027067112382697184069892-184069893, 184070109, 184070117-184070118, 184070828, 184070924-184070925, 184071063, 184072039, 184072742-184072761, 184075260, 184075263, 184075472, 184075637, 184076089-184076092
378OPA130.99934383202123048193354984, 193355018
379CPN230.99511599511681638194061903-194061909, 194061988
380PDE6B40.9988304093567332565651169-651171
381IDUA40.4199796126401611381962980873-980971, 980989-980999, 981020, 981613, 981624-981690, 981700-981702, 981706, 981713-981714, 994400-994402, 994421-994427, 994468-994485, 994745-994777, 995280-995285, 995498-995505, 995523-995595, 995604-995608, 995626-995667, 995778-995787, 995801, 995807, 995810, 995815-995819, 995858-995887, 995898-995919, 995922-995939, 995945-995949, 996057-996088, 996105, 996110-996120, 996161-996273, 996520-996548, 996563-996565, 996573-996732, 996824-996945, 997133-997252, 997337-997353, 997374, 997811-997827, 997885-997887, 998104-998136, 998179-998181
382FGFR340.7680263700041256324271795662-1795754, 1795762-1795770, 1800981-1800991, 1801024-1801048, 1801056, 1801059, 1801073-1801087, 1801120-1801148, 1801161, 1801174-1801197, 1801209, 1801228-1801250, 1803114-1803118, 1803144-1803145, 1803173-1803174, 1803183-1803189, 1803218-1803227, 1803354, 1803360, 1803375-1803376, 1803384-1803385, 1803390-1803391, 1803407-1803423, 1803448-1803458, 1803593-1803623, 1803677-1803695, 1803752, 1804657-1804689, 1804720-1804742, 1806083-1806101, 1806204, 1806234-1806236, 1806558, 1806561, 1806645-1806653, 1806656-1806658, 1806671, 1807138-1807140, 1807143, 1807379-1807389, 1807538, 1807591, 1807617-1807620, 1807891-1807896, 1807989-1807994, 1808041-1808043, 1808559-1808574, 1808578-1808583, 1808650-1808661, 1808886-1808887, 1808895-1808897, 1808902-1808912, 1808919, 1808948-1808983
383HTT40.9811220702089317894293076553-3076562, 3076572-3076574, 3076600-3076603, 3076604-3076732, 3076765-3076769, 3076789-3076815
384DOK740.6184818481848257815153465103-3465156, 3465233-3465278, 3475133-3475147, 3475165-3475180, 3475219-3475228, 3475235-3475289, 3475295-3475304, 3475309-3475310, 3475314-3475316, 3475334, 3475342-3475347, 3478069-3478094, 3478127-3478145, 3478186-3478201, 3478208, 3478232, 3478241-3478247, 3478256-3478257, 3487380, 3494541, 3494545, 3494585, 3494590-3494591, 3494598-3494601, 3494611-3494674, 3494698-3494735, 3494793-3494814, 3494817, 3494846-3494850, 3494854, 3494896-3494901, 3494964-3494971, 3494990-3495121, 3495203
385DOK740.587140439932322445913494541, 3494545, 3494585, 3494590-3494591, 3494598-3494601, 3494611-3494674, 3494698-3494735, 3494793-3494814, 3494817, 3494846-3494850, 3494854, 3494896-3494901, 3494964-3494971, 3494990-3495079
386EVC40.99932863376972229795755629-5755630
387CNGA140.9947368421052612228047954629-47954640
388PKD240.9931200550395620290788928963-88928981, 88928992
389CISD240.9730392156862711408103808512-103808522
390CFI40.98573059360731251752110673628-110673645, 110682782-110682788
391FGA40.999615532487512601155510001
392GLRB40.98661311914324201494158041708-158041725, 158041765, 158041781
393GK40.94404332129964931662166199284-166199290, 166199358-166199392, 166199512-166199518, 166199558-166199592, 166199603-166199609, 166199812, 166200450
394SDHA50.96741854636591651995223682-223683, 251189-251218, 251469, 251538-251568, 254599
395SLC6A1950.7191601049868853519051201766-1201869, 1201885-1201967, 1208866-1208884, 1208900, 1208910-1208916, 1208945, 1208973, 1208977-1208984, 1208994-1209001, 1210559-1210570, 1210580-1210596, 1210635-1210642, 1212452, 1212492, 1212543, 1212549, 1212586-1212588, 1213578-1213688, 1214068-1214075, 1214097-1214137, 1214147, 1214155, 1214158-1214166, 1214180, 1216764, 1216775, 1219018-1219025, 1219051-1219065, 1219630-1219644, 1219711-1219713, 1219722, 1219726-1219768
396TERT50.8937922918505436133991253862, 1253921, 1253926-1253940, 1258713-1258728, 1258743-1258755, 1264521-1264523, 1264571, 1266612, 1268668-1268699, 1268710, 1271262-1271263, 1271276-1271291, 1279432-1279441, 1279487-1279490, 1279581, 1280290, 1280375-1280381, 1280427-1280435, 1293694-1293695, 1293998-1293999, 1294270-1294272, 1294331-1294337, 1294582, 1294585-1294594, 1294612-1294636, 1294642-1294645, 1294660-1294680, 1294687-1294735, 1294912, 1294921-1294934, 1294981, 1295005-1295037, 1295046-1295091, 1295097-1295104
397SLC6A350.9259259259259313818631409226-1409240, 1409927, 1414838, 1414855-1414890, 1420684-1420705, 1420789-1420818, 1422022-1422051, 1422056-1422057, 1422123
398LIFR50.998785670916824329438493756, 38502847, 38523641-38523642
399GHR50.999478351591031191742718798
400SMN250.99661016949153388569362949, 69366524, 69366577
401SMN250.99774011299435288570238373, 70242002
402AP3B150.999695585996961328577458651
403GPR9850.9999471486707911892190016035
404ALDH7A150.9987654320987721620125918653, 125919696
405LMNB150.98353208404316291761126113388, 126113458-126113460, 126113467-126113483, 126113490-126113496, 126168480
406FBN250.99771140862799208739127637074-127637091, 127641569, 127727743
407MYOT50.9986639946559821497137221784, 137222993
408DIAPH150.9992144540455633819140953564-140953566
409MSX250.995024875621894804174151873-174151876
410F1250.996563573883162582176830313-176830314
411F1250.98755411255411231848176830313-176830314, 176830505, 176830510-176830511, 176830965-176830980, 176831052, 176831238
412SQSTM150.89947089947091331323179247937-179247966, 179247997-179248036, 179248062-179248117, 179250034-179250040
413FLT450.3951612903225824754092180043391-180043392, 180045771, 180045784-180045790, 180045805, 180045815-180045816, 180045829-180045830, 180045840-180045916, 180046021-180046074, 180046081-180046109, 180046256-180046265, 180046279, 180046293-180046310, 180046331-180046366, 180046665-180046769, 180047173-180047174, 180047198-180047264, 180047272-180047308, 180047618-180047714, 180047876-180047910, 180047914-180047922, 180047932-180048007, 180048106-180048122, 180048166-180048208, 180048229-180048252, 180048542-180048573, 180048619-180048672, 180048723-180048746, 180048766, 180048770-180048791, 180048807-180048857, 180048873-180048904, 180049731-180049762, 180049802-180049839, 180050967-180051025, 180051030, 180051034-180051058, 180052869-180053010, 180053017-180053031, 180053111-180053265, 180055882-180055999, 180056259-180056316, 180056344-180056427, 180056696-180056835, 180056943-180057105, 180057225-180057337, 180057555-180057799, 180058682-180058778, 180076502-180076511, 180076534-180076545
414FOXC160.8730445246690721116621610722, 1610725-1610728, 1610757-1610783, 1611194, 1611282, 1611334-1611361, 1611373-1611379, 1611463-1611465, 1611470-1611473, 1611545-1611586, 1611636-1611642, 1611692-1611708, 1611799-1611825, 1612014-1612045, 1612149-1612158
415TUBB2B60.960388639760845313383224998-3225018, 3225540-3225564, 3225972-3225978
416ATXN160.996323529411769244816327885-16327888, 16327909, 16327916-16327918, 16327921
417HLA-H60.869333333333339875029855764-29855767, 29855797-29855823, 29855996-29856001, 29856284-29856292, 29856439, 29856445, 29856486-29856506, 29856550, 29856593-29856614, 29856643, 29856680, 29856684, 29856686, 29856696-29856697
418NEU160.9823717948717922124831829789-31829790, 31829795-31829807, 31830533-31830539
419TNXB60.94245723172628111192931976842, 31976916, 31976926, 31977388-31977395, 31977525-31977555, 31977995-31978001, 31978498-31978517, 31979458-31979499
420CYP21A260.9865591397849520148832006215-32006217, 32006317, 32006337, 32006886, 32008448-32008454, 32008901-32008907
421TNXB60.991986801791191021272932009648-32009664, 32010123-32010129, 32010247-32010275, 32010729-32010735, 32011214-32011221, 32011235, 32011248, 32012330-32012353, 32026076, 32026079-32026081, 32026088-32026089, 32026099, 32064633
422HLA-DQA160.968752476832609952, 32609969, 32609974, 32610387-32610406, 32610535
423HLA-DQB160.8180661577608114378632629224-32629234, 32630025, 32632575-32632670, 32632683-32632699, 32632703-32632711, 32632714, 32632718-32632725
424COL11A260.999424294761083521133140318-33140320
425SYNGAP160.9833829365079467403233388042-33388108
426FANCE60.9671011793916853161135420328-35420347, 35420404-35420431, 35420513, 35425363-35425366
427TULP160.995702885205657162935479574, 35479959-35479964
428MOCS160.87388801674516241191139893422-39893573, 39893584-39893589, 39895068-39895077, 39895112-39895149, 39895188, 39895220-39895234, 39895286-39895304
429PEX660.997621474685697294342935240-42935246
430RSPH960.938628158844775183143612839-43612878, 43612911-43612918, 43613005-43613007
431RUNX260.9629629629629658156645390442-45390491, 45390499-45390502, 45390509-45390511, 45390538
432PKHD160.9997546012269931222551893074, 51893080, 51929822
433EYS60.999894011658721943566094283
434RIMS160.999606221697182507972952081-72952082
435FIG460.998531571218842724110048427-110048429, 110106183
436GJA160.9939077458659771149121768922-121768928
437LAMA260.9995727865000549363129513926-129513929
438AHI160.9991645781119533591135777021-135777023
439SYNE160.998029855270145226394152534752, 152545668, 152545702-152545706, 152545713, 152553251-152553279, 152558055-152558066, 152725387-152725389
440TBP60.95294117647059481020170871014-170871019, 170871038-170871040, 170871047-170871085
441LFNG70.5675438596491249311402559496-2559688, 2559694-2559700, 2559710-2559914, 2564363-2564366, 2565059-2565060, 2565068-2565073, 2565099-2565116, 2565343-2565348, 2565878-2565887, 2565898-2565902, 2565951, 2566479-2566504, 2566521-2566524, 2566786-2566791
442PMS270.983005021243724425896013049, 6013150-6013156, 6017321-6017343, 6018247-6018249, 6037054, 6042144-6042145, 6045624-6045630
443TWIST170.916256157635475160919156759-19156762, 19156765-19156766, 19156783, 19156813-19156855, 19156859
444DNAH1170.9991895078102111357221765514-21765524
445HOXA1370.9520137103684756116727239318-27239338, 27239415-27239439, 27239461, 27239547, 27239566-27239571, 27239577, 27239583
446RP970.9984984984985166633134883
447GLI370.999789162977021474342005592
448GCK70.9921484653818711140144186110, 44191871-44191876, 44193028-44193031
449CCM270.9273408239700497133545039933-45039962, 45113083-45113090, 45113165-45113168, 45113889-45113910, 45115392-45115394, 45115451, 45115510-45115526, 45115608-45115610, 45115643-45115651
450EGFR70.9843104872006657363355220277, 55220281-55220309, 55223544-55223552, 55223588, 55223601, 55224327-55224333, 55224472, 55227951-55227958
451ASL70.74838709677419351139565546969, 65547400-65547438, 65547895, 65548119, 65551572-65551588, 65551731-65551732, 65551748-65551765, 65551778-65551787, 65551798-65551808, 65552322-65552339, 65552371-65552373, 65552716-65552717, 65553800-65553844, 65553856, 65553890, 65554078-65554126, 65554151-65554162, 65554263-65554267, 65554599-65554620, 65554652-65554661, 65554664, 65554670-65554674, 65557054-65557059, 65557065, 65557617-65557650, 65557755-65557789, 65557887
452KCTD770.8574712643678212487066094052-66094057, 66094071-66094164, 66094172-66094195
453NCF170.8787878787878810082572637917, 72639957-72639989, 72643704-72643710, 72644230-72644236, 72645924-72645930, 72648648-72648675, 72648696-72648710, 72648744, 72648747
454ELN70.9383908045977134217573442528-73442535, 73442540, 73442561-73442580, 73442586-73442599, 73456944-73456952, 73462847-73462849, 73462854, 73466254-73466297, 73466306-73466313, 73467493-73467506, 73477484-73477490, 73477676-73477680
455NCF170.87212276214834150117374193665-74193673, 74193718, 74197348-74197391, 74202328-74202355, 74202376-74202393, 74202421-74202432, 74202917-74202940, 74203000-74203003, 74203007-74203010, 74203013, 74203463, 74203501-74203504
456POR70.7498776309349511204375609704-75609722, 75609770, 75609779, 75610378-75610405, 75610479-75610490, 75610890-75610896, 75611623-75611626, 75612929-75612936, 75613059-75613092, 75613097, 75614100, 75614117-75614132, 75614152-75614169, 75614193-75614234, 75614246-75614249, 75614252-75614257, 75614387-75614402, 75614407-75614417, 75614426, 75614451-75614462, 75614472-75614507, 75614923-75614969, 75614978-75615013, 75615022-75615065, 75615100-75615104, 75615113-75615118, 75615241-75615243, 75615247, 75615250-75615253, 75615263-75615290, 75615366-75615386, 75615477-75615499, 75615539-75615542, 75615705, 75615723-75615730, 75615744, 75615799
457HSPB170.98543689320388961875932263-75932270, 75932273
458AKAP970.9994029341521771172491706253-91706259
459RELN70.9999036330346110377103205998
460CFTR70.9788431240153944443117188716-117188720, 117188736, 117188739, 117188760-117188800, 117188847-117188877, 117235015-117235029
461AASS70.9982020855807352781121769415-121769419
462IMPDH170.98388888888889291800128049819-128049823, 128049844, 128049867-128049871, 128049876-128049884, 128049896-128049904
463FLNC70.9998777207141118178128470757
464BRAF70.997392438070462301140624404-140624409
465KCNH270.98045977011494683480150671906, 150674926-150674992
466SHH70.901367890568751371389155595614-155595617, 155595645-155595646, 155595711-155595733, 155595750-155595776, 155595801-155595816, 155595833, 155595839, 155595850, 155595891-155595900, 155595911, 155595983-155595986, 155596038-155596062, 155596111-155596117, 155596198-155596204, 155596241-155596248
467MNX170.76533996683252831206156798403, 156798415-156798417, 156799265-156799269, 156802519-156802526, 156802533, 156802626, 156802630-156802632, 156802637, 156802649-156802743, 156802758, 156802769-156802775, 156802784-156802795, 156802798-156802822, 156802843-156802844, 156802870-156802872, 156802877, 156802883, 156802895-156802968, 156802976-156803001, 156803012-156803024
468MCPH180.99840510366826425086299599-6299602
469GATA480.9270127915726197132911565850-11565856, 11565874, 11565885-11565911, 11565964, 11565968-11565972, 11566000-11566001, 11566046-11566056, 11566094-11566103, 11566119, 11566129-11566154, 11566186-11566190, 11566375
470THAP180.99688473520249264242693474-42693475
471HGSNAT80.9779874213836542190842995685, 42995697-42995706, 42995720-42995735, 42995744-42995757, 43014117
472RP180.998763715036328647155533920-55533927
473CNGB380.9724279835390967243087588260-87588326
474VPS13B80.99949974987494611994100654393-100654396, 100654585, 100673710
475SLURP180.24679487179487235312143822561-143822668, 143822685-143822694, 143823221-143823237, 143823260-143823262, 143823273-143823293, 143823315-143823340, 143823754-143823803
476CYP11B180.98611111111111211512143958513-143958533
477CYP11B280.9986772486772521512143996539, 143996553
478PLEC80.70202774813234418814055144990377, 144990422, 144990427-144990438, 144990549, 144990554, 144990559, 144992361, 144992378-144992382, 144992390-144992394, 144992697, 144992704, 144992966, 144993056, 144993218, 144993668, 144993724, 144993929, 144993943, 144994240, 144994359-144994360, 144994365-144994367, 144994370, 144994378, 144994388, 144994484, 144994779, 144994968-144994985, 144994991-144994992, 144995000, 144995113, 144995393-144995402, 144995494-144995497, 144995736, 144995808-144995827, 144995875-144995906, 144995949-144995951, 144995962, 144996145, 144996156-144996205, 144996224-144996258, 144996273-144996283, 144996314-144996316, 144996319-144996321, 144996383-144996404, 144996408, 144996527-144996549, 144996672-144996694, 144996796-144996800, 144996880-144996903, 144996984-144996990, 144996995-144996996, 144997004-144997006, 144997018, 144997039-144997050, 144997058-144997071, 144997092-144997100, 144997103-144997105, 144997122-144997125, 144997128-144997146, 144997429-144997431, 144997433, 144997442-144997474, 144997541, 144997575-144997600, 144997646-144997653, 144997656, 144997674-144997689, 144997726-144997771, 144997819, 144997829-144997924, 144997927, 144997930-144997934, 144997961-144997999, 144998026, 144998029-144998030, 144998051-144998079, 144998090-144998093, 144998097, 144998110-144998132, 144998156-144998160, 144998164, 144998169, 144998176, 144998194-144998196, 144998209-144998217, 144998226-144998250, 144998309-144998312, 144998319-144998358, 144998392-144998397, 144998400-144998474, 144998513-144998544, 144998553-144998556, 144998567, 144998614-144998733, 144998740-144998812, 144998832, 144998836, 144998843, 144998857-144998861, 144998876-144999000, 144999024-144999027, 144999034-144999141, 144999154-144999180, 144999193-144999308, 144999319-144999399, 144999434, 144999438-144999458, 144999467-144999716, 144999738-144999782, 144999804-144999811, 144999820-144999937, 144999971, 144999983-145000052, 145000956, 145000968-145000991, 145000999, 145001019-145001021, 145001031, 145001047-145001048, 145001148-145001197, 145001245-145001249, 145001433, 145001586-145001624, 145001634-145001681, 145001714-145001755, 145001764-145001768, 145001816-145001840, 145001843-145001844, 145001858, 145001864-145001909, 145001930-145001934, 145002044-145002079, 145002086-145002096, 145002129, 145002134-145002143, 145003376-145003402, 145003420, 145003430-145003441, 145003582-145003606, 145003613-145003645, 145003665-145003693, 145003814-145003876, 145003894-145003913, 145003926, 145003939-145003949, 145003982, 145004104, 145004214, 145004221, 145004314-145004361, 145004395, 145004423, 145004445, 145004450-145004453, 145004573-145004575, 145004582-145004589, 145004607-145004645, 145004681-145004690, 145005702-145005726, 145005737-145005783, 145006123-145006200, 145006298-145006316, 145006326-145006379, 145006568-145006589, 145006614-145006631, 145006656-145006693, 145006815-145006844, 145006855-145006856, 145006859-145006880, 145006961-145007013, 145007058-145007073, 145007086-145007123, 145007158, 145007174-145007179, 145007185-145007192, 145007213, 145007260-145007279, 145007365-145007372, 145007406-145007408, 145007412-145007421, 145007444-145007519, 145008166-145008224, 145008231-145008259, 145008486-145008531, 145008539-145008540, 145008550-145008554, 145008557-145008571, 145008574, 145008579-145008593, 145008600-145008613, 145008803-145008861, 145008868-145008880, 145008986-145009019, 145009043-145009097, 145009179-145009188, 145009196, 145009210-145009246, 145009266-145009272, 145009279-145009285, 145009366-145009395, 145009402-145009406, 145009422, 145009425, 145009437, 145009449-145009481, 145010016-145010028, 145010044-145010058, 145010072-145010080, 145010106-145010182, 145011147-145011151, 145011154-145011168, 145011174-145011185, 145011201-145011239, 145011346-145011363, 145011386-145011403, 145012333-145012336, 145012343-145012367, 145012371-145012380, 145012400-145012402, 145024598, 145024612, 145024660-145024670, 145024819
479GPT80.710932260228034311491145730251-145730262, 145730676-145730708, 145730741, 145730780-145730790, 145730820-145730828, 145730832-145730835, 145730838-145730842, 145731231-145731252, 145731267-145731310, 145731378-145731423, 145731443-145731450, 145731466-145731497, 145731656-145731697, 145731722-145731759, 145731777-145731789, 145731957-145731984, 145732007-145732034, 145732178-145732209, 145732325-145732347
480RECQL480.862972153294734973627145736843-145736850, 145737166-145737172, 145737318-145737321, 145737328-145737330, 145737345-145737379, 145737448-145737450, 145737623, 145737657-145737661, 145737775-145737793, 145737813-145737837, 145737936, 145737939-145737942, 145738077-145738079, 145738126-145738154, 145738282-145738283, 145738321-145738324, 145738379-145738394, 145738428, 145738431-145738460, 145738509-145738521, 145738634-145738683, 145738720-145738726, 145738738, 145738749-145738757, 145738767-145738768, 145738792-145738812, 145738840-145738853, 145738955-145739002, 145739013, 145739028, 145739053-145739096, 145739312-145739332, 145739335-145739339, 145739457-145739459, 145740391-145740393, 145740590-145740595, 145742813-145742844, 145743010-145743014, 145743093-145743099, 145743165-145743168
481DOCK890.960158730158732516300371560, 382654-382655, 382668, 390535, 396786-396807, 396833-396835, 396845-396934, 399146-399168, 399184-399186, 399191, 399204, 399212-399244, 404952-404994, 405015-405021, 405031-405034, 405049, 446599-446603, 452050-452059
482VLDLR90.99885583524027326222622256-2622258
483GLDC90.99836761345087530636645376-6645380
484B4GALT190.9498746867167960119733166900-33166902, 33166948-33166949, 33166959-33166960, 33166971-33166984, 33166992-33166995, 33167022, 33167031-33167032, 33167046, 33167093-33167112, 33167138-33167147, 33167152
485VPS13A90.999370078740166952579938100-79938105
486FOXE190.92691622103387821122100616268-100616269, 100616277-100616278, 100616309-100616324, 100616327, 100616348-100616358, 100616546, 100616628-100616648, 100616701-100616710, 100616718-100616724, 100616859-100616869
487TGFBR190.9980158730158731512101867538-101867540
488MUSK90.9996168582375512610113449482
489NR5A190.97402597402597361386127245156-127245179, 127262748, 127262751, 127262767, 127265371-127265375, 127265422, 127265594-127265596
490STXBP190.9961368653421671812130374713-130374719
491ENG90.99393019726859121977130616616-130616627
492DOLK90.97773654916512361617131708109-131708117, 131708220-131708227, 131709024-131709038, 131709479-131709482
493POMT190.99403122130395132178134397449, 134398319-134398330
494SETX90.99800846402788168034135139873-135139888
495CEL90.829150154117133882271135944521-135944527, 135944583-135944589, 135945985-135946018, 135946596-135946900, 135946931, 135946940-135946948, 135946953-135946967, 135946974, 135946977-135946983, 135946987, 135947019
496SURF190.8959025470653494903136218990-136218995, 136220646-136220647, 136220659-136220666, 136220710, 136220721-136220723, 136220737-136220743, 136220778, 136220782, 136221519, 136221766-136221769, 136223124-136223142, 136223276-136223311, 136223314-136223316, 136223325, 136223329
497ADAMTS1390.970588235294121264284136293764-136293781, 136293800-136293863, 136293872-136293891, 136295134-136295146, 136295177-136295184, 136302018, 136324226-136324227
498DBH90.941747572815531081854136516759-136516774, 136516783-136516797, 136516822, 136516872, 136517369-136517386, 136518092, 136518097, 136522192-136522197, 136522232-136522280
499SARDH90.841857091040994362757136529027-136529028, 136529100-136529111, 136531857, 136531881-136531906, 136531933-136531992, 136535706-136535874, 136536657-136536685, 136536698-136536819, 136559390, 136559426, 136559469-136559472, 136568042-136568048, 136568052-136568053
500COL5A190.923327895595434235517137534034-137534136, 137582857-137582901, 137591773-137591776, 137591846-137591872, 137591908-137591909, 137591929, 137591942-137591943, 137591967-137591968, 137593125-137593161, 137593170-137593179, 137620560-137620577, 137620597-137620653, 137623470, 137623476-137623477, 137623482-137623485, 137630346-137630352, 137630356, 137630361, 137630640, 137642688, 137642694-137642709, 137642713-137642714, 137642722-137642728, 137644466, 137644477-137644482, 137644489-137644491, 137645698-137645699, 137645702-137645741, 137653771-137653774, 137676901-137676916
501LHX390.97435897435897311209139094814-139094839, 139094846, 139094851-139094854
502INPP5E90.95710594315245831935139326366, 139326369-139326372, 139326395, 139326398, 139327012, 139327681, 139327711, 139333067, 139333161, 139333186, 139333270-139333271, 139333435-139333455, 139333502-139333508, 139333542-139333544, 139333592, 139333624-139333648, 139333732-139333737, 139333749, 139333769-139333772
503NOTCH190.6618414188836725937668139390575-139390595, 139390638, 139390834-139390845, 139390869-139390928, 139390945-139390947, 139390966-139390971, 139391032-139391039, 139391146-139391154, 139391164-139391168, 139391247, 139391321-139391339, 139391377, 139391388-139391391, 139391425-139391445, 139391475, 139391480, 139391500-139391560, 139391573-139391585, 139391614-139391616, 139391630-139391632, 139391644-139391648, 139391742-139391779, 139391785-139391820, 139391834, 139391843-139391861, 139391893, 139391934, 139391946, 139391953, 139391956-139391957, 139391978-139392010, 139393363-139393369, 139393569-139393571, 139393639, 139395004-139395043, 139395102-139395110, 139395168, 139395183-139395185, 139395192-139395193, 139395245-139395252, 139396306, 139396467, 139396724-139396736, 139396786, 139396906, 139396912-139396914, 139399125, 139399149, 139399162, 139399182-139399186, 139399189-139399190, 139399204, 139399214-139399222, 139399228, 139399233-139399237, 139399279, 139399379, 139399392, 139399395, 139399430, 139399462-139399470, 139399473, 139399534-139399542, 139399808, 139399857, 139399863-139399879, 139399885-139399886, 139399987-139400033, 139400053, 139400171-139400175, 139400180-139400189, 139400220, 139400243-139400310, 139400326-139400333, 139401003-139401005, 139401011, 139401016-139401023, 139401040, 139401222-139401251, 139401325, 139401848-139401849, 139402502, 139402591, 139402684, 139402713, 139402751-139402754, 139403324-139403372, 139403402, 139403405, 139403416-139403418, 139403431, 139403437, 139404254, 139404318, 139404322, 139405181, 139405201-139405221, 139405239, 139405243-139405244, 139405257, 139405611-139405612, 139405616-139405628, 139405643-139405648, 139405674-139405690, 139407475-139407562, 139407568-139407586, 139407847-139407877, 139407955, 139407968-139407989, 139409012-139409039, 139409060-139409107, 139409742-139409852, 139409935-139409970, 139409976-139409979, 139409983-139409989, 139410002-139410042, 139410051-139410098, 139410101, 139410126, 139410153-139410155, 139410159, 139410506, 139410535-139410546, 139411724-139411758, 139411764, 139411792-139411793, 139411809-139411837, 139412204-139412275, 139412282-139412288, 139412297-139412335, 139412361, 139412365-139412378, 139412386, 139412589-139412602, 139412636-139412672, 139412696, 139412704-139412744, 139413053-139413075, 139413144, 139413147-139413190, 139413249-139413273, 139413895-139414010, 139417302-139417640, 139418169-139418431, 139438481-139438493, 139438496-139438498, 139438503-139438504, 139438507, 139438515-139438544, 139438553-139438554, 139440178-139440238
504AGPAT290.63799283154122303837139568204-139568237, 139568296-139568344, 139568364-139568379, 139569216, 139569219-139569226, 139571073-139571075, 139571445-139571448, 139571458-139571466, 139571496, 139571587-139571588, 139571890-139571902, 139571907-139571918, 139571982, 139581628-139581693, 139581726-139581809
505SLC34A390.688888888888895601800140127036-140127057, 140127137-140127155, 140127308-140127320, 140127371, 140127846, 140128085, 140128118-140128145, 140128154, 140128319-140128355, 140128382-140128383, 140128561-140128646, 140128678-140128703, 140128711-140128726, 140128877-140128882, 140128936-140128940, 140128955-140128957, 140130404-140130442, 140130481-140130489, 140130513-140130549, 140130568-140130617, 140130636-140130692, 140130719, 140130722-140130726, 140130738-140130805, 140130821-140130827, 140130841, 140130850-140130868
506EHMT190.845008981267646043897140513481-140513501, 140605445-140605462, 140611078-140611634, 140622833, 140622942-140622945, 140622972, 140622975-140622976
507SHOXX0.51194539249147429879591633-591902, 595353-595358, 595380-595434, 595446-595524, 595540-595542, 595546-595561
508CSF2RAX0.5371647509578560413051401597-1401598, 1401619-1401648, 1404671-1404735, 1404774, 1404809-1404813, 1407759-1407781, 1409237, 1409267-1409272, 1409276-1409277, 1409299-1409303, 1409307-1409351, 1409360-1409373, 1413221-1413298, 1413313, 1413321-1413354, 1414320-1414349, 1419397-1419435, 1419454-1419475, 1419484-1419519, 1422154-1422255, 1422816-1422835, 1422849-1422857, 1422860-1422871, 1422880-1422898, 1424396, 1424417, 1424420
509PHKA2X0.999460625674222370818912345-18912346
510ARXX0.997039668442875168925031663-25031667
511DMDX0.99900524507144111105832663156-32663166
512RPGRX0.77565770453888776345938144907-38144912, 38145007-38145060, 38145129-38145143, 38145179-38145188, 38145218-38145267, 38145270-38145271, 38145277, 38145282-38145322, 38145338-38145421, 38145437-38145680, 38145690-38145774, 38145800-38145810, 38145830-38145884, 38145911-38145939, 38145965-38146012, 38146034-38146050, 38146160-38146176, 38147125-38147130, 38147170
513PORCNX0.993506493506499138648371011-48371019
514ARX0.9963807455664110276366765162-66765165, 66766375, 66766378-66766381, 66766390
515EDAX0.995748299319735117669247793-69247797
516TAF1X0.9924322421682543568270586193-70586214, 70586309-70586329
517ATRXX0.9986629228506510747976919008-76919017
518XIAPX0.9953145917001371494123040945-123040951
519AFF2X0.99618902439024153936147919213-147919227
520SLC6A8X0.908280922431871751908152954031-152954062, 152954088-152954209, 152954229-152954237, 152954287-152954291, 152960199-152960205
521ABCD1X0.97855227882038482238152990858-152990862, 152991259-152991263, 152991410-152991414, 153001675-153001680, 153008675-153008678, 153008981-153008987, 153009110, 153009175-153009189
522AVPR2X0.9973118279569931116153171528-153171530
523MECP2X0.98997995991984151497153363068-153363078, 153363084, 153363087, 153363090-153363091
524OPN1MWX0.9954337899543451095153455586, 153455590, 153455598, 153459042, 153459046
525OPN1MWX0.997260273972631095153492716, 153496160, 153496164
526FLNAX0.99622356495468307944153596249-153596257, 153599535-153599554, 153599560
527EMDX0.9803921568627515765153608073, 153608077-153608082, 153609133-153609140
528TAZX0.9645120405576728789153640213-153640221, 153640246-153640254, 153640280-153640289
VariantPhase/
Zygosity
Allele freqImpactEvaluationSummary / Info
3COL4A1-Q1334Hhomozygous0.325Dominant
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.16 (benign), Testable gene in GeneTests with associated GeneReview
3COL4A1-T555Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
3COL4A1-V7Lhet unknown0.291Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
3SIAE-M89Vhomozygous0.040Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
3MTRR-I49Mhomozygous0.451Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
3MTRR-K377Rhet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
3MTRR-H622Yhet unknown0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5CASP10-I406Lhet unknown0.003Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.548 (possibly damaging), Testable gene in GeneTests with associated GeneReview
2AGRP-A67Thet unknown0.030Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.857 (probably damaging)
2DPYD-M166Vhet unknown0.078Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
2DPYD-R29Chet unknown0.714Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2H6PD-R453Qhomozygous0.309Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
2TP53-P72Rhomozygous0.628Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.127 (benign), Testable gene in GeneTests with associated GeneReview
2PCSK9-A53Vhet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2PCSK9-V474Ihet unknown0.817Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2PCSK9-G670Ehomozygous0.888Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-S4338Nhet unknown0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-P2739Lhet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-I2313Vhomozygous0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-Y1422Chomozygous1.000Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-A618Vhet unknown0.366Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2KEL-T193Mhet unknown0.032Dominant
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
1.75MBL2-G57Ehet unknown0.092Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
1.75MBL2-G54Dhet unknown0.104Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests
1.5AURKA-I57Vhomozygous0.836Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5AURKA-F31Ihomozygous0.188Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5HNMT-T105Ihet unknown0.077Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.821 (possibly damaging)
1.125LDLRAP1-S202Phet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.803 (possibly damaging), Testable gene in GeneTests
1.125LDLRAP1-R238Whet unknown0.035Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests
1.125FUT2-F26Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1.125FUT2-W154*het unknown0.491Recessive
protective
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
1.125FUT2-G258Shet unknown0.509Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.954 (probably damaging)
1TYR-R402Qhet unknown0.205Complex/Other
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview
1TYR-K503Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TRIM64-I58ThomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-V68LhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
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
1COPZ2-A23ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1COPZ2-G19ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1B3GNT6-L316ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1B3GNT6-L335ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TNXB-R48PhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1AP1S2-T35AhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1AP1S2-R29PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1NPC1-I858Vhet unknown0.445Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.061 (benign), Testable gene in GeneTests with associated GeneReview
1NPC1-M642Ihet unknown0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NPC1-H215Rhet unknown0.296Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SCARF2-A832Ghet unknown0.650Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SCARF2-A814Ghet unknown0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SCARF2-DV772ELhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1SCARF2-E764ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SCARF2-P747ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SCARF2-A745ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SCARF2-T425Shet unknown0.090Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1INSR-A2GhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
1FERMT1-R526Khomozygous0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1FERMT1-R255Chet unknown0.064Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
1FERMT1-I160Thet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.004 (benign), Testable gene in GeneTests
1WBSCR28-I14Nhomozygous0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1WBSCR28-W78Rhomozygous0.610Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.022 (benign)
1WBSCR28-G137Shomozygous0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.866 (probably damaging)
1SP110-M523Thet unknown0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SP110-L425Shet unknown0.863Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SP110-G299Rhet unknown0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SP110-A206Vhet unknown0.213Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SP110-W112Rhet unknown0.917Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ADA-D8Nhet unknown0.030Dominant
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1KRTAP7-1-I61ShomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KRTAP7-1-S51PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KRTAP7-1-Y17ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PYGM-A670Vhet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.853 (probably damaging), Testable gene in GeneTests with associated GeneReview
1TGIF1-P83Shifthet unknown0.139Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests with associated GeneReview
1TGIF1-P292Shet unknown0.060Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ARSA-T391Shet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ARSA-N350Shet unknown0.183Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.012 (benign), Testable gene in GeneTests with associated GeneReview
1KCNJ11-V337Ihet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1KCNJ11-K23Ehet unknown0.738Unknown
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1DSC3-N239Shet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview
1HLA-H-Q61Rhomozygous0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-H-R100Chomozygous0.039Unknown
not reviewed
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
1PPARG-P12Ahomozygous0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.979 (probably damaging), Testable gene in GeneTests
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
1SSTR1-*392*ARATQGL*homozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1CYP1B1-N453Shet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.837 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1CYP1B1-V432Lhomozygous0.445Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NR_027127-W61*homozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1GPHB5-F53Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1GPR98-L1093Fhomozygous0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GPR98-V1951Ihomozygous0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GPR98-P1987Lhomozygous0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.366 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1GPR98-Y2232Chomozygous0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.989 (probably damaging), Testable gene in GeneTests with associated GeneReview
1GPR98-N2345Shomozygous0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
1GPR98-N2584Shomozygous0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GPR98-A2803Thet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests with associated GeneReview
1GPR98-E3471Khomozygous0.758Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GPR98-E3867Khomozygous0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GPR98-E5344Ghomozygous0.937Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
1GPR98-V5427Mhomozygous0.972Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GPR98-V5876Ihet unknown0.432Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.94 (probably damaging), Testable gene in GeneTests with associated GeneReview
1CNGA1-S3FhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1AX746903-T82ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1AX746903-Q107RRRhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1AX746903-Q107RRRhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1NPRL3-L489Shifthomozygous0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1EVC-Y258Hhet unknown0.706Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
1EVC-T372Mhomozygous0.065Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
1EVC-T449Khomozygous0.852Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1EVC-R576Qhet unknown0.309Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
1ZFYVE19-R48Shifthomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZFYVE19-R185Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZFYVE19-S376Ahomozygous0.752Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
1RYK-L17ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ADRB2-G16Rhomozygous0.413Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
1ADRB2-E27Qhomozygous0.661Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
1SEBOX-L207Shomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SEBOX-W10ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1C2orf83-W141*homozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1C2orf83-E104QhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1C2orf83-S45Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1CELA1-L210Shifthomozygous0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
1CELA1-M59Vhomozygous0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.24 (possibly damaging)
1CELA1-Y5PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1CELA1-V3ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ATF1-P191Ahomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
1KRT4-G160GAGGFGAGFGTGGFGhomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1NHLRC1-P111Lhomozygous0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview
1BRCA2-N289Hhet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1BRCA2-N991Dhet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1BRCA2-V2466Ahomozygous0.977Dominant
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ATXN7-K264Rhet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.949 (probably damaging), Testable gene in GeneTests with associated GeneReview
1ATXN7-V862Mhet unknown0.394Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PIK3R6-L609ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF167-N494ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NCKIPSD-P551Shomozygous0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
1ALX4-P102Shet unknown0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ALX4-R35Thomozygous0.419Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests with associated GeneReview
1RNASEL-D541Ehomozygous0.475Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1RNASEL-R462Qhet unknown0.278Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.964 (probably damaging), Testable gene in GeneTests
1HSH2D-S223Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF761-L47ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF761-I122Shomozygous0.686Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-V168Ihomozygous0.770Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-G528Shet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-E603Qhet unknown0.403Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1RGPD4-D761GhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1FAM83E-P311Lhomozygous0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
1FAM83E-T91Ahomozygous0.343Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-G2758Shomozygous0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-HR2748QHhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1HRNR-Y2746Hhomozygous0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-S799Thomozygous0.725Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-R664Qhomozygous0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-G492Rhomozygous0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-E473Ghomozygous0.950Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-Q376Rhomozygous0.950Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-H273Qhet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-R85Hhomozygous0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.078 (benign)
1HRNR-M1ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TTN-V33180Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-P32685Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-E32484Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-R32018Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-G31702Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-V30951Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-I30146Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-R29962Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-I26820Thomozygous0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-I25199Vhomozygous0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-T24045MhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-S22872Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-R22371Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-A19840Phomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-V19783Ihomozygous0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-T18827Ihomozygous0.312Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-P17286Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-R16903Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-N16125Dhomozygous0.322Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-M14919Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-I9278Vhomozygous0.329Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-R8194Qhet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-N7559Shomozygous0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-S7181Nhomozygous0.155Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-A7111Ehomozygous0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-E6900Ahomozygous0.150Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-D6218Hhomozygous0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-S3419Nhomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-V3261Mhomozygous0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-S1295Lhomozygous0.950Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-K1201Ehet unknown0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-R328Chet unknown0.088Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NEFL-S472ShifthomozygousUnknown
benign
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1F5-D2222Ghet unknown0.045Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-M1764Vhet unknown0.291Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-N817Thet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-Q534Rhomozygous0.978Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-M413Thet unknown0.058Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PLEKHA2-P389Shifthomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ABCA1-K1587Rhomozygous0.582Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ABCA1-I883Mhet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ABCA1-R219Khomozygous0.393Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1PADI6-V343Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TCEAL6-Q175Shifthomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1FRMD7-S281Lhomozygous0.074Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.265 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1FAM58A-Q15ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
1FAM58A-G4ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
1OPN1MW-M153Lhomozygous0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.031 (benign), Testable gene in GeneTests with associated GeneReview
1DGKK-L1014ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SSX9-E38Shifthomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1HADHB-T2TThomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1MTHFR-A222Vhomozygous0.272Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.858 (probably damaging), Testable gene in GeneTests
1OTC-G28EhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1BC112980-K147ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1VSIG10L-Q860ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1VSIG10L-R592Qhet unknown0.563Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1VSIG10L-M356Ihet unknown0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1VSIG10L-N3Thet unknown0.605Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ATG9B-A765ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CHIT1-V357V*het unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation, Testable gene in GeneTests
1CHIT1-G102Shet unknown0.281Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.057 (benign), Testable gene in GeneTests
1C8orf49-G26RhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1C8orf49-I81VhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1C8orf49-C194*homozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1TAS2R38-I296Vhet unknown0.463Unknown
benign
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.984 (probably damaging)
1TAS2R38-A262Vhet unknown0.473Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
1TAS2R38-A49Phet unknown0.431Unknown
benign
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1KCP-S494Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KCP-H313ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KCP-A16ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NPHS1-R408Qhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
1NPHS1-E117Khet unknown0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.75COMT-V158Mhet unknown0.448Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75FUT6-E247Khet unknown0.128Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.75FUT6-P124Shomozygous0.421Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.614 (possibly damaging)
0.75ANKK1-A239Thet unknown0.228Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.852 (probably damaging)
0.75ANKK1-G442Rhet unknown0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75ANKK1-E713Khet unknown0.237Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75EDN1-K198Nhet unknown0.206Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.75ADD1-G460Whet unknown0.157Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.75ADD1-S617Chet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75AKAP10-I646Vhet unknown0.452Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75AKAP10-R249Hhet unknown0.446Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRODH2-P91Rhomozygous0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.243 (possibly damaging), Testable gene in GeneTests
0.5GCSH-S21Lhomozygous0.751Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALK-D1529Ehomozygous0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALK-K1491Rhomozygous0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.5ALK-I1461Vhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALK-T680Ihet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.354 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5GCKR-L446Phomozygous0.679Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TAF1C-G541Shet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TAF1C-L481Mhet unknown0.292Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TAF1C-C24Yhomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PLCG2-M28Lhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5RAD51AP2-G1037Dhet unknown0.517Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.979 (probably damaging)
0.5RAD51AP2-R976Hhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5RAD51AP2-V876Lhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.242 (possibly damaging)
0.5RAD51AP2-S760Ihet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.048 (benign)
0.5RAD51AP2-C533Yhet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5RAD51AP2-T531Ihet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5RAD51AP2-Q490Hhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.955 (probably damaging)
0.5RAD51AP2-T488Ihet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.375 (possibly damaging)
0.5CTNS-T260Ihomozygous0.828Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CTNS-P380Ahet unknown0.190Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEURL4-R1406Hhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.912 (probably damaging)
0.5SPG7-T503Ahet unknown0.142Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5SPG7-R688Qhet unknown0.142Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.203 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5HS1BP3-A388Thet unknown0.183Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.012 (benign)
0.5HS1BP3-P348Rhet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.916 (probably damaging)
0.5HS1BP3-V260Mhomozygous0.491Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LRRC50-K393Rhomozygous0.378Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.683 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5LRRC50-P502Lhomozygous0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5LRRC50-L633Shet unknown0.273Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRC50-L659Vhet unknown0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5LRRC50-L659Phet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRC50-S675Thet unknown0.274Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5ZNF19-R224Qhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CYBA-Y72Hhet unknown0.620Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TSNAXIP1-R428Chet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5ADAMTS10-H1101Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADAMTS10-T134Shet unknown0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5RNF151-V66Ihet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ERCC4-R415Qhet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5MYH11-V1296Ahet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NOTCH3-A2223Vhomozygous0.730Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SULT6B1-L112Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SULT6B1-K50Ehet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SULT6B1-V37Dhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SULT6B1-A23Thet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ADAMTSL3-H146Rhomozygous0.564Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.04 (benign)
0.5ADAMTSL3-L290Vhomozygous0.849Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ADAMTSL3-V661Lhomozygous0.620Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ADAMTSL3-R981Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ADAMTSL3-T1660Ihet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5FANCI-A86Vhet unknown0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCI-C742Shet unknown0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCI-I877Lhet unknown0.092Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AKAP8-R206Hhet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ACSM5-R341Khet unknown0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.024 (benign)
0.5ACSM5-H360Rhet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ACSM5-R481Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CPAMD8-Q1890Rhet unknown0.266Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CPAMD8-H593Rhomozygous0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CPAMD8-D586Ehomozygous0.317Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CPAMD8-V369Mhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CPAMD8-M368Ihet unknown0.201Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CPAMD8-V355Ihet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CPAMD8-R341Whet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5CPAMD8-M312Thomozygous0.823Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF708-H554Rhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5ZNF708-R130Qhet unknown0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5ZNF708-K113Ehet unknown0.586Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5ZNF708-A71Vhomozygous0.975Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TSPAN16-S233Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ICAM1-G241Rhet unknown0.075Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.948 (probably damaging)
0.5ICAM1-K469Ehet unknown0.349Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CCDC130-S22Chet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.994 (probably damaging)
0.5SALL1-V1275Ihomozygous0.988Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTC27-R165Hhet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5COG7-T605Mhet unknown0.072Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.346 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5ARHGAP17-R510Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.973 (probably damaging)
0.5CD19-L174Vhomozygous0.768Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLII-F20Lhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5KLF11-Q62Rhet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging), Testable gene in GeneTests
0.5RTTN-F1761Shomozygous0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5RTTN-G242GGhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5RTTN-D212Ahet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging)
0.5RTTN-S126Ahomozygous0.729Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ARSG-T236Shomozygous0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.075 (benign)
0.5ARSG-W274Rhomozygous0.444Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.5ARSG-R398Whet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ARSG-T444Mhet unknown0.108Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.076 (benign)
0.5AGRN-E728Vhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.5KISS1R-L364Hhomozygous0.884Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CACNG5-V194Ihet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5COL1A1-T1075Ahomozygous0.971Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL1A1-P205Ahet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MSI2-A283Thet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.924 (probably damaging)
0.5TGFB1-P10Lhomozygous0.648Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DLL3-F172Chet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DLL3-L218Phomozygous0.593Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAI2-A558Thomozygous0.767Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-G1132Rhomozygous0.955Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-I921Mhet unknown0.364Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-V882Ahet unknown0.609Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview
0.5CHRNA3-R37Hhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5KIAA1632-S1083Lhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5KIAA1632-V1058Ahet unknown0.477Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.439 (possibly damaging)
0.5KIAA1632-E844Dhet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5LAMA3-S2834Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CD226-S307Ghomozygous0.451Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TSEN54-K347Nhomozygous0.535Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.968 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5TSEN54-A437Vhomozygous0.659Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5CYP2A7-V479Ghomozygous0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP2A7-R381Whet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5CYP2A7-M368Thet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.5CYP2A7-R311Chomozygous0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5CYP2A7-H274Rhomozygous0.797Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5CYP2A7-S153Ahomozygous0.478Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LAMA1-K2002Ehomozygous0.657Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LAMA1-A1876Thet unknown0.183Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LAMA1-D1682Vhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.656 (possibly damaging)
0.5LAMA1-I1659Vhet unknown0.169Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LAMA1-S1577Ahet unknown0.231Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.397 (possibly damaging)
0.5ZNF224-M118Vhomozygous0.872Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF224-H162Lhomozygous0.879Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.262 (possibly damaging)
0.5ZNF224-K640Ehomozygous0.713Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CEACAM16-L55Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PTPRH-I1076Vhet unknown0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.97 (probably damaging)
0.5PTPRH-K823Ehomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTPRH-K781Nhet unknown0.210Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.042 (benign)
0.5PTPRH-L226Phet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.996 (probably damaging)
0.5ZNF480-C3Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5UNC45B-V60Ihet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5MAP2K3-P40Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.968 (probably damaging)
0.5MAP2K3-R55Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MAP2K3-S68Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.029 (benign)
0.5MAP2K3-A84Thet unknown0.231Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MAP2K3-R94Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.992 (probably damaging)
0.5MAP2K3-R96Whet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5MAP2K3-Q102*het unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5MAP2K3-L215Whet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5MAP2K3-R293Hhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.338 (possibly damaging)
0.5MAP2K3-V339Mhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.815 (possibly damaging)
0.5AK094748-D110Ahet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AK094748-S134Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AK094748-S209Shifthet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TPO-A373Shomozygous0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5TPO-S398Thomozygous0.785Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.988 (probably damaging), Testable gene in GeneTests
0.5FAM18B2-C189Whet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ATP8B1-A1152Thomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FPR1-E346Ahomozygous0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-N192Khet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-R190Whet unknown0.113Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-I11Thomozygous0.773Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DOT1L-G1386Shomozygous0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DOT1L-G1443Chet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
0.5CD300LG-R82Chet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5SLC4A1-D38Ahet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NSF-V361Mhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5ERCC2-K751Qhet unknown0.319Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5JUP-M697Lhomozygous0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5JUP-V648Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KRT33B-R329Hhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging)
0.5NDUFS7-P23Lhomozygous0.538Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5GLTSCR2-D31Hhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5GLTSCR2-Q389Rhet unknown0.810Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TEP1-H2562Rhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-R1772Qhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-C1468Yhet unknown0.253Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-S1195Phet unknown0.618Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-R1155Qhet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-R1055Chet unknown0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-S116Phet unknown0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ETFA-T171Ihet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5OPTN-K322Ehomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CDNF-W154Shet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5CUBN-N3552Khet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-S2717Whomozygous1.000Unknown
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-S1935Ghet unknown0.145Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P1559Shet unknown0.743Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P389Thomozygous0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-F253Shet unknown0.703Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-V239Ihomozygous0.864Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-I326Vhomozygous0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CHAT-A120Thet unknown0.184Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.5CHAT-L243Fhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.202 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5CHAT-V461Mhomozygous0.961Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MTR-D919Ghet unknown0.217Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.777 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5EDARADD-M9Ihomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NVL-V404Ihet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.882 (probably damaging)
0.5LBR-S154Nhomozygous0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EPHX1-Y113Hhet unknown0.257Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5EPHX1-H139Rhet unknown0.248Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PCNXL2-S1901Nhet unknown0.233Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PCNXL2-N121Shet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.929 (probably damaging)
0.5PCNXL2-R117Khet unknown0.297Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OBSCN-D63Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5OBSCN-Q502Rhet unknown0.628Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.98 (probably damaging)
0.5OBSCN-A908Thet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.5OBSCN-V1508Dhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5OBSCN-A1532Vhet unknown0.265Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5OBSCN-D2106Ehomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.04 (benign)
0.5OBSCN-F2116Lhomozygous0.707Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.182 (benign)
0.5OBSCN-R2529Qhet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
0.5OBSCN-R2812Whet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5OBSCN-R2823Lhet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.988 (probably damaging)
0.5OBSCN-ES3372DChet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OBSCN-H4381Rhomozygous0.752Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.99 (probably damaging)
0.5OBSCN-C4450Rhomozygous0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.907 (probably damaging)
0.5OBSCN-H4489Qhet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.583 (possibly damaging)
0.5OBSCN-R4534Hhomozygous0.256Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.515 (possibly damaging)
0.5OBSCN-S4642Chomozygous0.747Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.058 (benign)
0.5OBSCN-R4662Chet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.838 (possibly damaging)
0.5OBSCN-G4666Shet unknown0.196Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.467 (possibly damaging)
0.5OBSCN-D4962Ghomozygous0.740Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.467 (possibly damaging)
0.5OBSCN-P6271Shet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.402 (possibly damaging)
0.5OBSCN-A6860Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5OBSCN-A7172Vhet unknown0.555Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.012 (benign)
0.5OBSCN-R7724Hhomozygous0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.515 (possibly damaging)
0.5OBSCN-V7807Ihet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.5CDH23-N1349Dhomozygous0.813Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-A1461Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-A1572Thomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-V1672Ihet unknown0.139Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-T1996Shomozygous0.414Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-E2585Qhet unknownRecessive
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDHR1-H53Qhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.864 (probably damaging)
0.5RIC3-P101Shet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5MRVI1-E230Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MRVI1-P186Shet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5MRVI1-A70Thomozygous0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MRVI1-I11Vhet unknown0.772Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC6A5-F124Shomozygous0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-A162Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRR5L-A41Thet unknown0.818Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.96 (probably damaging)
0.5PRR5L-T139Ahet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.977 (probably damaging)
0.5CCDC34-N298Shet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.929 (probably damaging)
0.5CCDC34-E264Ahet unknown0.271Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.966 (probably damaging)
0.5CCDC34-P53Shet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.508 (possibly damaging)
0.5TH-V108Mhomozygous0.290Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5H19-G355Rhomozygous0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5H19-V94Ihomozygous0.361Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5H19-W38Rhomozygous0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-D1370Ghet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-M703Vhomozygous0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-G428Shomozygous0.845Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-T210Mhomozygous0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC2-Y39Fhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCC2-S281Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ADRB1-S49Ghomozygous0.137Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ADRB1-G389Rhomozygous0.681Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ARMS2-R3Hhet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ARMS2-R38*het unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation, Testable gene in GeneTests
0.5LRRC56-T285Mhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.983 (probably damaging)
0.5LRRC56-R300Hhet unknown0.570Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.051 (benign)
0.5LRRC56-D523Hhet unknown0.783Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DMBT1-P42Thomozygous0.676Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.941 (probably damaging)
0.5DMBT1-S54Lhomozygous0.676Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.84 (possibly damaging)
0.5DMBT1-M1556Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5DMBT1-G1580Rhet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5USH2A-V4433Lhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-M3868Vhet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-T3835Ihet unknown0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.157 (benign), Testable gene in GeneTests with associated GeneReview
0.5USH2A-E3411Ahet unknown0.573Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-I2169Thet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-I2106Thomozygous0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-R1486Khomozygous0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview
0.5USH2A-A125Thomozygous0.719Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-L2647Ihet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-S2562Ghet unknown0.317Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-Y2494Hhomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GJB4-R103Chet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests
0.5COL9A2-L335Vhet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLFNL1-V344Ahet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging)
0.5SLFNL1-R144Thet unknown0.229Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.5MMACHC-A256Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WDR65-T126Mhet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5WDR65-N241Dhet unknown0.521Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.5WDR65-C345Shet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
0.5SEPN1-T103Ahet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SEPN1-C108Yhet unknown0.788Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SEPN1-N467Khet unknown0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HSPG2-A4071Vhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-R3632Qhet unknown0.112Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-A3168Thet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-S2995Ghet unknown0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-L2980Hhet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-G2225Shet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-V1967Ihet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-A1503Vhet unknown0.694Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-N765Shomozygous0.933Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-M638Vhomozygous0.974Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RNF207-R539Chet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging)
0.5RNF207-N573Shet unknown0.452Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GABRD-R220Hhet unknown0.016Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5FHAD1-R182Hhomozygous0.309Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FHAD1-G651Rhet unknown0.414Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FHAD1-M1262Vhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5FHAD1-I1325Vhet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CLCNKB-R27Lhomozygous0.523Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-A214Ghomozygous0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-A287Vhomozygous0.811Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-M562Thomozygous0.889Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ALPL-V522Ahet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CROCC-R7Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CROCC-D586Hhet unknown0.182Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.991 (probably damaging)
0.5CROCC-R841Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CROCC-G845Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CROCC-L895Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CROCC-T1072Mhet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.994 (probably damaging)
0.5CROCC-R1097Phet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5POMGNT1-M623Vhomozygous0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCA4-N1868Ihet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.77 (possibly damaging), Testable gene in GeneTests
0.5ABCA4-H423Rhet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KCNJ10-R18Qhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.454 (possibly damaging), Testable gene in GeneTests
0.5NDUFS2-P352Ahet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5FMO4-L221Hhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.284 (possibly damaging)
0.5KIAA1614-L64Phomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIAA1614-R301Chet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5KIAA1614-L801Fhet unknown0.412Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIAA1614-N1078Dhomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LHX4-N328Shomozygous0.406Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IGSF9-G34Ehet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5RHBG-G76Dhet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RHBG-P424Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5RHBG-H428Rhet unknown0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL11A1-S1547Phomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-P1335Lhomozygous0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AGL-P1067Shet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.984 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5OVGP1-E676Qhomozygous0.522Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OVGP1-S536Ghet unknown0.257Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OVGP1-T533TTGQKTLThet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5OVGP1-T523Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5OVGP1-T518Shet unknown0.126Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.007 (benign)
0.5OVGP1-Y514Hhet unknown0.251Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OVGP1-S511Phet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OVGP1-M479Vhet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.963 (probably damaging)
0.5OVGP1-M477Thomozygous0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5OVGP1-D332Ehet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging)
0.5PTPN22-W620Rhomozygous0.934Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTPN22-R263Qhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5GBA-K144Rhomozygous0.619Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NUDT17-C300Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NUDT17-C300Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PEX16-V116Ihomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5F2-T165Mhet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.346 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5CLYBL-I241Vhomozygous0.765Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.048 (benign)
0.5CLYBL-R259*het unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5PCK2-Q121Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCK2-R521Hhet unknown0.090Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COCH-T352Shomozygous0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-M1969Thomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests
0.5SYNE2-A2284Vhomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-S2359Nhomozygous0.769Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-A2395Thomozygous0.880Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-S2802Ghomozygous0.914Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.5SYNE2-I2942Vhomozygous0.723Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-D3253Hhomozygous0.740Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests
0.5SYNE2-H3309Rhomozygous0.742Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5TRIM9-L653Fhet unknown0.525Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TRIM9-V338Ihet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.877 (probably damaging)
0.5DIAPH3-P588Lhet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5OLFM4-R214*het unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5NUPL1-A34Thet unknown0.396Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NUPL1-S166Phet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.514 (possibly damaging)
0.5SGCG-N287Shomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5B3GALTL-E370Khomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.5CSNK1A1L-Q279Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CSNK1A1L-R170Shet unknown0.084Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.9 (probably damaging)
0.5CSNK1A1L-D42Ehomozygous0.514Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SPERT-S286*het unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5SPERT-K329Ehet unknown0.599Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC25A15-I254Lhomozygous0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RDH12-R161Qhet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.941 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5ZFYVE26-N1891Shomozygous0.942Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZFYVE26-C1457Yhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.5DUOX2-S1067Lhet unknown0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DUOX2-P982Ahet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DUOX2-R701Qhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DUOX2-H678Rhet unknown0.182Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DUOX2-P138Lhet unknown0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC28A2-P22Lhomozygous0.474Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC28A2-S75Rhomozygous0.497Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FBN1-C472Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HEXA-I436Vhomozygous0.867Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR2E3-T318Shifthomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.5STRC-Q84Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MGA-P628Qhet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5MGA-T716Shomozygous0.744Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MGA-P1523Ahomozygous0.303Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.5TSHR-E727Dhomozygous0.920Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MLH3-P844Lhet unknown0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5MLH3-N826Dhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GALC-T641Ahomozygous0.959Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GALC-D248Nhet unknown0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.972 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GALC-A21Phet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.163 (benign), Testable gene in GeneTests with associated GeneReview
0.5ATP10A-R1298Shet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ATP10A-A1179Thet unknown0.252Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.108 (benign)
0.5ATP10A-E834Khet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging)
0.5ATP10A-S353Yhet unknown0.116Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.847 (possibly damaging)
0.5TRPM1-H1498Qhet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5TRPM1-E1375*het unknown0.064Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation, Testable gene in GeneTests
0.5TRPM1-S32Nhomozygous0.794Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TRPM1-M1Thomozygous0.831Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5OCA2-R305Whet unknown0.082Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5HIP1R-C938Fhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5WDR66-E65EEKEEEhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5WDR66-V307Ihet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5WDR66-R417Qhet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5WDR66-R860Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TRPC6-P15Shet unknown0.061Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ATM-D1853Nhet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATM-N1983Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MLL-E502Khet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.36 (possibly damaging)
0.5VWA5A-R757Chet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.976 (probably damaging)
0.5DPAGT1-I393Vhomozygous0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYO7A-L16Shet unknown0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYO7A-S1666Chomozygous0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYO7A-L1954Ihet unknown0.549Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IGHMBP2-L201Shomozygous0.777Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IGHMBP2-T671Ahet unknown0.246Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IGHMBP2-T879Khet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MS4A14-I56Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MS4A14-N177Yhet unknown0.640Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
0.5MS4A14-G584Rhet unknown0.574Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5SERPING1-V480Mhomozygous0.220Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.5VPS37C-L198Shet unknown0.730Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VPS37C-V182Dhet unknown0.064Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.243 (possibly damaging)
0.5VPS37C-T8Nhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging)
0.5AHNAK-I3505Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AHNAK-Q3003Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AHNAK-G2527Dhet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5MEN1-T546Ahomozygous0.908Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ROM1-L114Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5ROM1-G118Ahomozygous0.938Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests
0.5SNX19-L878Rhomozygous0.809Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-N753Shomozygous0.633Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-L618Fhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-P480Lhet unknown0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.977 (probably damaging)
0.5SNX19-S407Ghet unknown0.161Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-D396Ehet unknown0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-G381Shet unknown0.161Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SNX19-V361Lhomozygous0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5WNK1-T1056Phomozygous0.850Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-C1506Shomozygous0.985Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BEST3-K59Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MMAB-M239Khomozygous0.598Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MMAB-R19Qhomozygous0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TRAFD1-E303Ahet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5HPD-T33Ahomozygous0.902Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HNF1A-G292Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5HNF1A-S574Ghomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KIAA0748-E496Khet unknown0.069Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIAA0748-R19Hhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5KRT6C-R182Qhomozygous0.402Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.805 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5SLCO1B3-S112Ahomozygous0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLCO1B3-M233Ihomozygous0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.131 (benign)
0.5SLCO1B3-G256Ahet unknown0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
0.5VWF-V1565Lhet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.038 (benign), Testable gene in GeneTests with associated GeneReview
0.5VWF-T1381Ahet unknown0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-Q852Rhet unknown0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-T789Ahet unknown0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.5VWF-H484Rhet unknown0.503Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.83 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5VWF-V471Ihomozygous0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GYS2-M363Vhomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LRRK2-R50Hhomozygous0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-M2397Thomozygous0.614Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KRT83-H493Yhomozygous0.751Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT83-I279Mhet unknown0.409Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT83-R149Chet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL2A1-T9Shomozygous0.791Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYP2B6-Q172Hhet unknown0.292Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.009 (benign)
0.5CYP2B6-K262Rhet unknown0.043Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CYP2B6-I391Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5RTP4-D109Hhet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.924 (probably damaging)
0.5CMAH-V478Ahomozygous0.836Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CMAH-R310Phet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CMAH-N272Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CMAH-R241Whet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CMAH-I181Thet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CMAH-G131Shet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZNF204P-W209*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5ZNF204P-K6Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5HLA-F-K56EhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HLA-F-V57Ghet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HLA-F-D123Ehet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HLA-F-M126Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HLA-F-S128Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5HSPA1L-E602Khet unknown0.237Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HSPA1L-T493Mhomozygous0.873Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5PSORS1C1-E34Khet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5FLT4-R1146Hhet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5BC040901-C89Whomozygous0.706Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BC040901-P93Shet unknown0.548Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BC040901-A106Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5GABRG2-I215Vhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MSX2-M129Thomozygous0.753Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5F12-A207Phomozygous0.976Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GRM6-A807Vhet unknown0.072Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.418 (possibly damaging), Testable gene in GeneTests
0.5GRM6-Q59Phet unknown0.616Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PROP1-A142Thet unknown0.239Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PROP1-N20Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-G2518Ehomozygous0.685Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-H1161Rhet unknown0.477Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-T302Ahet unknown0.076Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-L8Mhet unknown0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-C34Yhet unknown0.450Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-F41Shet unknown0.425Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Q57Ehet unknown0.265Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-E63Ghet unknown0.255Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-A68Vhet unknown0.354Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-RW70CLhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-EF73VLhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-SK75RQhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-G78Rhet unknown0.182Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-G79Delhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-G84Fhet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-R87Thet unknown0.259Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-M89Ihet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-A92Lhet unknown0.151Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-IM98SLhet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Y103Shet unknown0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-T130Ihet unknown0.242Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Q152Hhet unknown0.407Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Q198Khet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-M230Vhomozygous0.700Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Q241Rhet unknown0.421Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CRISP2-C196Rhet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging)
0.5PKHD1-Q4048Rhet unknown0.524Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-V3960Ihet unknown0.013Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-I3905Nhet unknown0.049Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-Q3899Rhet unknown0.522Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-L1870Vhomozygous0.952Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-A1262Vhet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-R760Chet unknown0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-T579Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EFHC1-R159Whet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.057 (benign), Testable gene in GeneTests
0.5LCA5-G656Dhet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LCA5-D26Ahet unknown0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5LCA5-L24Shomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5MYO6-T845Ihet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MUT-I671Vhomozygous0.608Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MUT-R532Hhomozygous0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CUL7-Q813Rhomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-Q256Rhet unknown0.221Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-Q253Hhet unknown0.290Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-R252Hhet unknown0.267Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-V235Ihet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-G157Ahet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-G157Shet unknown0.191Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-V148Ihet unknown0.180Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-A70Vhomozygous0.246Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-Y69Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-Y62Hhet unknown0.274Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-Y62Hhet unknown0.274Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-T60Shet unknown0.065Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-L58Ghet unknown0.132Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-M46Lhet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-F41Yhomozygous0.782Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-L28Shet unknown0.375Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-L28Shet unknown0.375Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-S27Thet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-M24Ihet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-A23Shet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-V15Ahet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-D12Ghet unknown0.400Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-A6Shet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A2-P894Lhet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5COL11A2-R539Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MOCS1-R572Hhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRPH2-D338Ghomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRPH2-R310Khomozygous0.931Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRPH2-Q304Ehomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TAF8-G264Rhet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.92 (probably damaging)
0.5TCOF1-A99Thet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TCOF1-A665Phet unknown0.058Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TCOF1-V887Ahet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TCOF1-P1139Rhet unknown0.170Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC26A2-I574Thomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC26A2-T689Shet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HADH-L86Phomozygous0.847Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFI-T300Ahomozygous0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR3C2-V180Ihomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TERT-A1062Thet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TERT-A279Thet unknown0.020Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5AGA-T149Shomozygous0.923Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ADH1B-H48Rhomozygous0.963Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC10A6-I114Vhet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.012 (benign)
0.5SLC10A6-S6Fhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5HTT-Y2309Hhet unknown0.466Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HTT-V2786Ihet unknown0.216Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WFS1-V333Ihomozygous0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WFS1-R611Hhomozygous0.400Recessive
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5CC2D2A-E229Delhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BMP2K-A58Dhet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5BMP2K-T1002Shet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.022 (benign)
0.5TLR6-S249Phomozygous0.695Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH5-I4450Vhet unknown0.528Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-A4134Vhet unknown0.461Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-Q2463Rhet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-T558Ahomozygous0.330Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.791 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-G24Ehet unknown0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-H12Qhomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GHR-D137Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GHR-I544Lhomozygous0.435Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.5IL13-Q144Rhomozygous0.811Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FBXL21-N31Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5FBXL21-V172Delhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5FBXL21-P208Lhet unknown0.782Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AX746964-G175Shifthet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AX746964-K166Ihet unknown0.628Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SPINK5-Q267Rhomozygous0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-A335Vhomozygous0.440Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-S368Nhomozygous0.428Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-K420Ehomozygous0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-R711Qhomozygous0.545Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCG8-T400Khomozygous0.220Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.157 (benign), Testable gene in GeneTests
0.5ABCG8-V632Ahomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC22A4-I306Thomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SLC22A4-L503Fhomozygous0.304Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FBN2-V965Ihet unknown0.665Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FBN2-A68Vhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AP3B1-V585Ehomozygous0.932Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5HEXB-L62Shomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ARSB-V358Mhomozygous0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.117 (benign), Testable gene in GeneTests
0.5PCSK1-S690Thet unknown0.235Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.061 (benign), Testable gene in GeneTests
0.5PCSK1-Q665Ehet unknown0.247Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSD17B4-R106Hhomozygous0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.547 (possibly damaging), Testable gene in GeneTests
0.5HSD17B4-I559Vhet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.111 (benign), Testable gene in GeneTests
0.5SLCO6A1-T654Rhet unknown0.236Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.054 (benign)
0.5SLCO6A1-A27Vhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.275 (possibly damaging)
0.5SIM1-A371Vhet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SIM1-P352Thet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.365 (possibly damaging), Testable gene in GeneTests
0.5AIM1-Q293Phet unknown0.243Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AIM1-T1165Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AIM1-E1196Ahomozygous0.930Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0.5AIM1-C1395Yhet unknown0.254Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.958 (probably damaging)
0.5TMEM67-I604Vhomozygous0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KLHL38-C504Yhet unknown0.082Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5KLHL38-R346Khomozygous0.765Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KLHL38-I334Vhomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5KLHL38-H98Rhomozygous0.795Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.016 (benign)
0.5TG-S734Ahomozygous0.592Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-M1028Vhomozygous0.591Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5TG-D1312Ghomozygous0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-D1838Nhet unknown0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.061 (benign), Testable gene in GeneTests
0.5TG-S2132Lhet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-W2501Rhet unknown0.614Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.031 (benign), Testable gene in GeneTests
0.5TG-R2530Qhet unknown0.572Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5PSCA-W118*het unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5JRK-L543Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5JRK-R499Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5JRK-T30Mhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CNGB3-T298Phet unknown0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview
0.5CNGB3-C234Whomozygous0.880Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PEX2-C184Rhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NAT2-R197Qhomozygous0.282Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HR-R620Qhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5HR-G337Dhet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NKX3-1-R52Chet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.788 (possibly damaging)
0.5WRN-K32Rhet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5WRN-L1074Fhomozygous0.466Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ESCO2-A80Vhet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RECQL4-E267Dhet unknown0.387Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RECQL4-S92Phomozygous0.995Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DOCK8-A22Vhet unknown0.317Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.009 (benign), Testable gene in GeneTests
0.5DOCK8-P97Thet unknown0.465Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests
0.5DOCK8-A597Vhet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.96 (probably damaging), Testable gene in GeneTests
0.5KAL1-V534Ihomozygous0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMD-R2937Qhomozygous0.957Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMD-R1745Hhomozygous0.336Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DMD-D882Ghomozygous0.650Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATRX-Q929Ehomozygous0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OPN1LW-S180Ahomozygous0.126Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5ATP7A-E1350Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NOXA1-R398Qhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5DBH-N201Shet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IPPK-L376Fhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.865 (probably damaging)
0.5IKBKAP-P1158Lhet unknown0.214Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IKBKAP-C1072Shet unknown0.215Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IKBKAP-I816Lhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IKBKAP-G765Ehet unknown0.257Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IKBKAP-R525Qhet unknown0.079Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-V783Ahet unknown0.412Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-H752Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-M613Thet unknown0.492Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-R364Hhomozygous0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-I1386Vhomozygous0.691Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-G1252Rhomozygous0.690Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-D1192Ehomozygous0.790Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-V1540Lhomozygous0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-R605Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-E289Qhomozygous0.849Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASAH1-V246Ahomozygous0.867Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ASAH1-I93Vhomozygous0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ASAH1-V72Mhomozygous0.424Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DLC1-T260Ihet unknown0.908Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DLC1-QN254HDhet unknown0.812Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DLC1-R27Chet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5EIF2AK1-K558Rhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.974 (probably damaging)
0.5DNAH11-E34Lhet unknown0.368Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-V1023Ahet unknown0.350Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T1038Ahomozygous0.816Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-Y2593Hhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-N2641Shomozygous0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-A3474Thet unknown0.350Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-V3715Lhet unknown0.603Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-M4172Vhet unknown0.718Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T4177Ihet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HOXA1-R73Hhomozygous0.728Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NR_024390-W43*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5NR_024390-A104Phet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TXNDC3-C208Rhomozygous0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TXNDC3-I493Thet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.074 (benign), Testable gene in GeneTests with associated GeneReview
0.5PMS2-K541Ehomozygous0.874Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC22A2-S270Ahomozygous0.881Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC22A16-V252Ahet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.609 (possibly damaging)
0.5SLC22A16-H49Rhomozygous0.271Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5REV3L-R1970Hhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
0.5REV3L-T1224Ihomozygous0.685Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EPB41L2-E998Qhet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging)
0.5SYNE1-L8741Mhet unknown0.104Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-G8323Ahet unknown0.376Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-F7302Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-L5015Mhomozygous0.808Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-S4596Thomozygous0.793Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-K4121Rhomozygous0.784Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-E4060Dhet unknown0.566Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5MTHFD1L-R563Hhet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5GLI3-T183Ahomozygous0.666Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DDC-M17Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GPR37-T589Mhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5ATP6V0A4-V2Ahomozygous0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCN1-G118Whomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-R171Shomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-R304Ihet unknown0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D314Hhet unknown0.681Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D392Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-T682Nhet unknown0.131Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-A761Vhet unknown0.408Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KCNH2-K897Thet unknown0.169Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5RNF133-M1Ihet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.965 (probably damaging)
0.5LRRN3-D24Ghet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5MLXIPL-A358Vhet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.345 (possibly damaging)
0.5MLXIPL-Q241Hhet unknown0.093Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.697 (possibly damaging)
0.5NM_001039487-K303Rhet unknown0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.027 (benign)
0.5NM_001039487-S288*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5NM_001039487-Q187Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NM_001039487-K56Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NM_001039487-W47Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ABCB1-S893Ahomozygous0.683Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AKAP9-M463Ihet unknown0.442Unknown
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-N2792Shet unknown0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AKAP9-P2979Shomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SERPINE1-A15Thet unknown0.084Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.5CYP3A7-R409Thomozygous0.762Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PCDHB16-R202Qhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.983 (probably damaging)
0.5PCDHB16-T482Ihet unknown0.160Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5PCDHB16-Q638Hhet unknown0.126Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PCDHB16-R652Chet unknown0.154Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.02 (benign)
0.5IQCF2-R4Qhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.966 (probably damaging)
0.5NRIP1-R448Ghet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5CBR3-C4Yhomozygous0.368Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5NDUFV3-R200*het unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5NDUFV3-A412Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NDUFV3-D415Nhomozygous0.640Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PCK1-V184Lhomozygous0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SALL4-L507Rhet unknown0.281Dominant
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.125 (benign), Testable gene in GeneTests with associated GeneReview
0.5COL6A3-T3069Ihomozygous0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-A3012Phomozygous0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-M2927Thomozygous0.700Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DEFB126-Q55Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5DEFB126-P106Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5C20orf54-I303Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5C20orf54-T278Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5C20orf54-P267Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PANK2-G126Ahomozygous0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ITGB2-Q354Hhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.543 (possibly damaging), Testable gene in GeneTests
0.5PCNT-H156Rhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-T539Ihet unknown0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.009 (benign), Testable gene in GeneTests
0.5PCNT-G704Ehet unknown0.894Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-T879Ahet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.707 (possibly damaging), Testable gene in GeneTests
0.5PCNT-V1038Ahet unknown0.883Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-R1163Chet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.5PCNT-I1639Vhet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-Q2659Hhet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.849 (possibly damaging), Testable gene in GeneTests
0.5PCNT-Q2792Rhet unknown0.693Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.5PCNT-S3091Ghet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.312 (possibly damaging), Testable gene in GeneTests
0.5TSEN2-R126Hhet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5XIRP1-A1608Vhet unknown0.142Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5XIRP1-Q754Phet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5XIRP1-Q346Rhomozygous0.995Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CCBP2-V41Ahet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5CCBP2-Y373Shet unknown0.344Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TTC38-A12Vhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging)
0.5TTC38-F243Lhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SEC14L3-R364Chet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.305 (possibly damaging)
0.5SEC14L3-D335Ehomozygous0.695Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SEC14L3-R214Hhomozygous0.217Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5PRODH-R521Qhomozygous0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRODH-W185Rhet unknown0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRODH-P19Qhet unknown0.345Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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
0.5NR_027052-Q90*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5KIAA1671-P205Thet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5KIAA1671-K439Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.872 (probably damaging)
0.5HPS4-Q620Hhomozygous0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5HPS4-H601Yhomozygous0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-V547Mhomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-L438Vhet unknown0.375Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-E224Ghomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-L141Phomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-E162Ghomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-P574Lhomozygous0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-P1109Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A4-P1004Lhet unknown0.516Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A4-G545Ahet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A4-P482Shet unknown0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFC1-W78Rhomozygous0.966Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LCT-N1639Shomozygous0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LCT-I362Vhomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NEB-I6534Vhet unknown0.422Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-A6277Phomozygous0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-R4389Thomozygous0.648Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-W3348Chomozygous0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-K2613Nhet unknown0.351Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-V1491Mhomozygous0.660Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-Y1301Hhomozygous0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-N1198Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-K1027Nhomozygous0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GLI2-A1156Shomozygous0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GLI2-D1306Nhomozygous0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DBI-M71Vhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.297 (possibly damaging)
0.5PSME4-I872Vhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ALMS1-R392Chet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-S524SPhomozygous0.578Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-V671Ghomozygous0.881Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-G1414Ahet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-K1653Nhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-I1875Vhet unknown0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R1928Qhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-S2111Rhet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R2284Phet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R2826Shet unknown0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-N2856Shet unknown0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R4029Khomozygous0.540Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH6-V141Mhomozygous0.928Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH6-G1694Ahet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.026 (benign)
0.5DNAH6-Y2119Chet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5DNAH6-K2859Rhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5TEKT4-A302Thet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5TEKT4-Y304Hhet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TEKT4-H307Qhet unknown0.482Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TEKT4-S349Lhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.886 (probably damaging)
0.5TEKT4-R391Chet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.151 (benign)
0.5SCN9A-R1110Qhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCB11-V444Ahomozygous0.603Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5CPO-M85Ihomozygous0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.196 (benign), Testable gene in GeneTests
0.5CPO-S134Rhomozygous0.493Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CPS1-T344Ahomozygous0.597Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5ABCA12-H1968Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCA12-S777Thomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-R1767Qhet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-Q1578Rhomozygous0.962Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-E1365Dhomozygous0.702Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-R723Khet unknown0.827Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-R368Chet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALS2-V368Mhomozygous0.859Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH7-L3319Phomozygous0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH7-T2114Ahet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.894 (probably damaging)
0.5DNAH7-K825Ehet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.208 (possibly damaging)
0.5DNAH7-S632Chet unknown0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5DNAH7-R545Chet unknown0.525Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.02 (benign)
0.5LRP2-I4210Lhomozygous0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5LRP2-K4094Ehomozygous0.799Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LRP2-N83Shet unknown0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5DYNC1I2-R613Whet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5DYNC1I2-R616*het unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5PDE11A-S921SShomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PDE11A-M878Vhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.153 (benign)
0.5PDE11A-Y727Chet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5PDE11A-R184Qhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL3A1-A698Thet unknown0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL3A1-H1353Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CBR1-P131Shet unknown0.003Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.5ITGB5-FNK790Delhet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ITGB5-E80Qhet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.926 (probably damaging)
0.5CASR-E1011Qhomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DRD3-G9Shomozygous0.533Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SPATA16-M526Thet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SPATA16-A509Vhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.004 (benign)
0.5CPOX-V294Ihet unknown0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.5GBE1-I334Vhomozygous0.980Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GBE1-R190Ghet unknown0.292Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.025 (benign), Testable gene in GeneTests with associated GeneReview
0.5GFM1-V215Ihomozygous0.601Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.5GFM1-V664Ihet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.384 (possibly damaging), Testable gene in GeneTests
0.5MYLK-L496Vhomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MYLK-P443Shet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5MYLK-P147Shomozygous0.871Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MYLK-P21Hhet unknown0.189Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.375SCN1A-T1163Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375SCN1A-A1056Thet unknown0.724Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375GARS-P42Ahet unknown0.744Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375GARS-T268Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375APC-V1822Dhet unknown0.826Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375APC-G2502Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375EYS-R2326Qhet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.375EYS-P2095Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375EYS-L1419Shomozygous0.759Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.375EYS-L852Phet unknown0.642Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.375EYS-G631Shomozygous0.517Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.375EYS-T120Mhet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375NOTCH2-P1052Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375NOTCH2-C19Whet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CACNA1H-T987Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CACNA1H-R2133Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C1orf99-T7Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C1orf99-P38Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NEUROD1-T45Ahet unknown0.672Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25HMCN1-I2418Thet unknown0.525Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests
0.25HMCN1-E2893Ghet unknown0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.91 (probably damaging), Testable gene in GeneTests
0.25HMCN1-Q4437Rhet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.25MAN2B1-L278Vhet unknown0.321Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LAMB3-M852Lhet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.526 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25KISS1-*139Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KISS1-P81Rhet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KISS1-E20Khet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SFTPC-S186Nhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ITGA6-A380Thet unknown0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RP1-R872Hhet unknown0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25RP1-N985Yhet unknown0.349Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.958 (probably damaging), Testable gene in GeneTests
0.25RP1-A1670Thet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25RP1-S1691Phet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25RP1-C2033Yhet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests
0.25NQO1-P187Shet unknown0.197Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.215 (possibly damaging)
0.25LITAF-I92Vhet unknown0.164Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FMO2-S195Lhet unknown0.384Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FMO2-E314Ghet unknown0.082Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TLR1-S602Ihet unknown0.485Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TLR1-N248Shet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25ABAT-Q56Rhet unknown0.514Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SCD-M224Lhet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25UGT2B7-Y268Hhet unknown0.207Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LIPA-T16Phet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25RET-G691Shet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.16 (benign), Testable gene in GeneTests with associated GeneReview
0.25ANKRD30A-K861Nhet unknown0.595Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ANKRD30A-A918Thet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ANKRD30A-E1258Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MYO3A-R319Hhet unknown0.488Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO3A-I348Vhet unknown0.680Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO3A-V369Ihet unknown0.661Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO3A-S956Nhet unknown0.520Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25NEK11-T395Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NEK11-V562Ahet unknown0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25COL1A2-P549Ahet unknown0.798Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ANXA11-R230Chet unknown0.341Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.25AK298931-E88Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25AK298931-W38*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25AK298931-T4Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PCDH15-D440Ahet unknown0.131Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PCDH15-G385Shet unknown0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MANBA-V253Ihet unknown0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25PKD1L2-M2313Ihomozygous0.921Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-S2207Rhomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-S2137Fhomozygous0.905Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-P2045Lhet unknown0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-H1974Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PKD1L2-M1866Vhomozygous0.955Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-G1847Rhet unknown0.568Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-A1739Vhet unknown0.103Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Y1699Chet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-M1645Vhet unknown0.108Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Q1616Rhet unknown0.109Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-V1505Mhet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-I1331Vhet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-N1330DhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PKD1L2-S1326Phet unknown0.830Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-G1268Shet unknown0.196Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-L711Phomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-P512Lhet unknown0.754Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-K416Qhet unknown0.783Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-P301Ahet unknown0.353Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-R252Whet unknown0.461Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-N236Shifthet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25PKD1L2-E221Ghet unknown0.773Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-L173Shet unknown0.349Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Q120Lhet unknown0.577Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-K77Nhet unknown0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-W73Rhet unknown0.634Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-V20Ahet unknown0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DHODH-K7Qhet unknown0.542Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.25SLC28A1-A190Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLC28A1-D521Nhet unknown0.360Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PLCE1-R1575Phet unknown0.476Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PLCE1-T1777Ihet unknown0.321Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PLCE1-H1927Rhet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25AGT-M268Thet unknown0.561Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CREB3L2-Y318Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CREB3L2-V130Ihomozygous0.714Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CREB3L2-T100DelhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CFTR-V470Mhet unknown0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FAM129C-A293Ehet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.266 (possibly damaging)
0.25FAM129C-M461Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25FAM129C-G603Shet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.101 (benign)
0.25IL12RB1-G378Rhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25IL12RB1-M365Thet unknown0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25IL12RB1-Q214Rhet unknown0.251Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25IL12RB1-R156Hhet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.029 (benign), Testable gene in GeneTests
0.25NBN-E185Qhet unknown0.285Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CALHM1-L86Phet unknown0.798Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FAM57B-I230Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25FAM57B-L224Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PRRC2B-Q635Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PRRC2B-T936ShomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PRRC2B-P981LhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PRRC2B-M1044ThomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PRRC2B-A1276Vhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MOGS-P293Shet unknown0.332Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MOGS-D239Nhet unknown0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.031 (benign), Testable gene in GeneTests with associated GeneReview
0.25EIF2AK3-A704Shet unknown0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EIF2AK3-Q166Rhet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EIF2AK3-S136Chet unknown0.198Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CPN2-V536Mhet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.935 (probably damaging), Testable gene in GeneTests
0.25CPN2-A305Thet unknown0.326Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.25TRPM6-K1584Ehet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.854 (probably damaging), Testable gene in GeneTests
0.25TRPM6-V1393Ihet unknown0.144Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.013 (benign), Testable gene in GeneTests
0.25ROR2-V819Ihet unknown0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ROR2-T245Ahet unknown0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MERTK-R466Khet unknown0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MERTK-I518Vhet unknown0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25BAAT-R20Qhet unknown0.627Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.136 (benign), Testable gene in GeneTests
0.25CDA-K27Qhet unknown0.262Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GPR56-S281Rhet unknown0.609Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FSHR-S680Nhet unknown0.556Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FSHR-A307Thet unknown0.451Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25NOL9-Q247Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NOL9-S58Ahomozygous0.957Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NOL9-W50Rhomozygous0.970Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NOL9-R10Whomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.991 (probably damaging)
0.25LHCGR-N312Shet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC3A1-M618Ihet unknown0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25BBS2-I123Vhet unknown0.196Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BBS2-S70Nhomozygous0.994Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PLOD1-A99Thet unknown0.282Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PLOD1-A120Shet unknown0.151Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.01 (benign), Testable gene in GeneTests with associated GeneReview
0.25FBXW5-G270Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25FBXW5-SP262RHhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MCEE-A76Vhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP6V1B1-T30Ihet unknown0.159Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TNFRSF1B-M196Rhet unknown0.232Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.986 (probably damaging)
0.25KIAA2026-H1384Qhet unknown0.084Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.25KIAA2026-K691Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25FAAH-P129Thet unknown0.256Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25NGF-A35Vhet unknown0.370Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.123 (benign), Testable gene in GeneTests
0.25MCCC1-H464Phet unknown0.584Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DOK7-H113Phet unknown0.141Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25VANGL1-A116Thet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25CASQ2-T66Ahet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC2A9-P350Lhomozygous0.378Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC2A9-R294Hhet unknown0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.25SLC2A9-V282Ihet unknown0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.138 (benign), Testable gene in GeneTests
0.25SLC2A9-G25Rhet unknown0.429Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25IL6R-D358Ahet unknown0.316Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.911 (probably damaging)
0.25BCAT2-T186Rhet unknown0.144Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.548 (possibly damaging), Testable gene in GeneTests
0.25ABCC6-H632Qhet unknown0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GSTM1-S210Thet unknown0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PLEC-S2791Phet unknown0.567Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NLRP7-V319Ihet unknown0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25LRP8-R952Qhet unknown0.290Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LRP8-D46Ehet unknown0.523Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CPT2-V368Ihet unknown0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25STIL-A86Vhet unknown0.595Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LEPR-K656Nhet unknown0.176Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.454 (possibly damaging), Testable gene in GeneTests
0.25RBMXL1-P301Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25RBMXL1-L296Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25RBMXL1-L170Phet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25RBMXL1-P167Ahet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25RBMXL1-S161Phet unknown0.113Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DBT-S384Ghet unknown0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TONSL-A714Vhet unknown0.417Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TONSL-L141*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25GPT-H14Nhet unknown0.382Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25EIF2B5-I587Vhet unknown0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25BAG3-C151Rhet unknown0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25C12orf60-K65Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C12orf60-N103Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C12orf60-M184Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MVK-S52Nhet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MAPT-Y441Hhet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TRIOBP-H1300Rhomozygous0.624Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.25TRIOBP-EPPHPW1372DPTHPRhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TRIOBP-EPPHPW1372DPTHPRhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SH2B3-W262Rhet unknown0.634Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MAML1-S792Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MAML1-Q799Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MAML1-S1007Nhet unknown0.300Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FGFR4-V10Ihet unknown0.171Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FGFR4-P136Lhomozygous0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FGFR4-G388Rhet unknown0.241Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.481 (possibly damaging)
0.25NR_024334-G98Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NR_024334-R85Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NR_024334-E64Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CYP2D6-C296Rhet unknown0.599Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CYP2D6-H94Rhet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CYP2D6-L91Mhet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CYP2D6-P34Shet unknown0.187Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ITGA2B-I874Shet unknown0.380Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TMBIM4-Y174Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TMBIM4-I88Thet unknown0.382Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25F13A1-P565Lhet unknown0.193Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CDSN-N527Dhomozygous0.801Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDSN-L410Shet unknown0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDSN-F202Shet unknown0.264Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDSN-M18Lhet unknown0.188Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLCO1B1-N130Dhet unknown0.528Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLCO1B1-P155Thet unknown0.135Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25BBS12-R386Qhet unknown0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.25BBS12-D467Nhet unknown0.171Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TRIM15-S324Nhet unknown0.181Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RNF39-A304Ehet unknown0.173Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RNF39-S203Phet unknown0.176Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MYH9-I1626Vhet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KRT1-K633Rhet unknown0.220Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KRT1-S557Ghet unknown0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25NM_018029-S46Phomozygous0.546Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NM_018029-R84Shifthet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25NM_018029-Y164*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25NM_018029-I193Vhomozygous0.552Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NM_018029-L256Fhomozygous0.550Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MPDU1-A229Thet unknown0.173Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NCOR2-G1847Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NCOR2-E849Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NOC4L-D42Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NOC4L-Q47Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
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
0.25MST1-S565Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MST1-R434Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MST1-E202Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MST1-P144Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MST1-V121Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SRA1-V110RLhet unknown0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SIX6-H141Nhet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.25RPGRIP1-K192Ehet unknown0.483Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RPGRIP1-A547Shet unknown0.232Complex/Other
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.03 (benign), Testable gene in GeneTests with associated GeneReview
0.25RPGRIP1-E1033Qhet unknown0.262Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DNAH9-R24Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25DNAH9-Q445Rhomozygous0.992Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH9-R2162Khet unknown0.080Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.25DNAH9-V2505Lhet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.129 (benign)
0.25DNAH9-D4036Nhet unknown0.247Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.031 (benign)
0.25DNAH9-M4374Ihet unknown0.161Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.659 (possibly damaging)
0.25STAB1-S1958Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25STAB1-CQ1968WEhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25STAB1-I2282Vhomozygous0.373Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25STAB1-M2506Thomozygous0.598Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MYO15A-C1977Rhet unknown0.805Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO15A-Y2682Fhet unknown0.344Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ACIN1-A447Phomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ACIN1-Y25*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25FLNB-D1157Nhet unknown0.303Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25FLNB-V1471Mhet unknown0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.02 (benign), Testable gene in GeneTests with associated GeneReview
0.25ATP7B-V1140Ahet unknown0.585Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP7B-R952Khet unknown0.575Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP7B-K832Rhet unknown0.555Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.461 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25ATP7B-V456Lhet unknown0.405Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.25ATP7B-S406Ahet unknown0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25USP12-F365Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25USP12-F347Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SCO2-R20Phet unknown0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25BRCA1-S1634Ghet unknown0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BRCA1-K1183Rhet unknown0.295Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BRCA1-E1038Ghet unknown0.278Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25BRCA1-P871Lhet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GM2A-I59Vhet unknown0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GM2A-M69Vhet unknown0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MTHFD1-K134Rhomozygous0.831Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MTHFD1-R653Qhet unknown0.376Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.25VCAN-K1516Rhet unknown0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25VCAN-R1826Hhet unknown0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25VCAN-F2301Yhet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25VCAN-D2937Yhet unknown0.388Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview
0.25XPC-Q939Khet unknown0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25XPC-A499Vhet unknown0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FREM2-S745Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FREM2-F1070Shet unknown0.438Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KRTAP3-2-R27Chet unknown0.132Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.25BRIP1-S919Phet unknown0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MRO-L128Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MRO-R53Shomozygous0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MRO-T23Nhet unknown0.210Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CTDP1-S61Ahet unknown0.659Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CTDP1-T340Mhet unknown0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.25PARK2-V380Lhet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL20A1-Q25Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25COL20A1-A1016Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SDHA-V657Ihet unknown0.195Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.011 (benign), Testable gene in GeneTests
0.25IFNGR2-Q64Rhet unknown0.169Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests
0.25MANSC1-D165Nhet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.854 (probably damaging)
0.25MANSC1-C68*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25RAX-D44Ehet unknown0.229Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25TNFRSF11A-H141Yhet unknown0.126Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.909 (probably damaging), Testable gene in GeneTests
0.25TNFRSF11A-A192Vhomozygous0.550Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MADD-V751Mhet unknown0.226Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ABCC8-A1369Shet unknown0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FGA-T331Ahet unknown0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.306 (possibly damaging), Testable gene in GeneTests
0.25CCM2-V120Ihet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25MYH3-A1637Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYH3-A1192Thomozygous0.716Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SPG11-F463Shet unknown0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ACADSB-R13Khet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.08 (benign), Testable gene in GeneTests
0.25ACADSB-I316Vhet unknown0.072Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25STXBP2-I526Vhet unknown0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC2A10-A206Thet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SMPD1-G508Rhet unknown0.200Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BBS9-A455Thet unknown0.173Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GDF5-S276Ahet unknown0.359Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KCNE1-S38Ghet unknown0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25FAM55B-V103Ahet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.871 (probably damaging)
0.25FAM55B-N351Ihet unknown0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CETP-V422Ihet unknown0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ITGB4-L1779Phet unknown0.604Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TULP1-K261Nhet unknown0.844Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TULP1-I259Thet unknown0.366Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25IL7R-I66Thet unknown0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25IL7R-V138Ihet unknown0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SCN4A-S524Ghet unknown0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BC036909-I114Mhet unknown0.798Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25BC036909-V76Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25HYLS1-C31Rhet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests
0.25SPATA7-D2Nhet unknown0.290Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.665 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25SPATA7-V74Mhet unknown0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL6A1-R850Hhet unknown0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25UNC13D-K867Ehet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KRTAP10-1-S137Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KRTAP10-1-P39Lhomozygous0.689Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.25FANCA-G809Dhet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FANCA-T266Ahet unknown0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25TRPT1-H174Rhet unknown0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TRPT1-G54Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SERPINA1-E400Dhet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25PEX6-P939Qhet unknown0.430Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GAA-H199Rhet unknown0.673Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GAA-R223Hhet unknown0.673Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GAA-V780Ihet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SGSH-R456Hhet unknown0.293Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0CLEC7A-Y238*het unknown0.063Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0HFE-H63Dhet unknown0.110Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0PEX1-I696Mhet unknown0.027Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0ACAD8-S171Chet unknown0.018Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests

Input file format: CGIVAR

Genome build: b37

Genome coverage: 2,768,982,674 bases (96.9% of callable positions, 89.9% of total positions)

Coding region coverage: 32,262,365 bases (96.9% of all genes, 97.7% of genes with clinical testing available)

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

Gene search

"GENE" or "GENE A123C":

Log in