hu03E3D2 - GET-Evidence variant report

Variant report for hu03E3D2

Log file: 




VariantClinical
Importance
ImpactAllele
freq
Summary
1STRA6-T321PHighUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.000558035Reported to cause syndromic microphthalmia, causing congenital abnormally small eyes and other malformations. This assertion is recorded in ClinVar by OMIM (http://www.ncbi.nlm.nih.gov/clinvar/RCV000001197/) and comes from Pasutto et al 2007 (PMID: 17273977). Pasutto et al studied two consanguineous families and 13 additional cases with European ancestry; this variant was seen homozygously in one of the 13 alongside another missense variant in the same gene. It is unclear which of these two variants (if either) is causal, but the other variant (P90L) appears to be rarer, as it does not appear in ExAC data. In contrast, this variant has an allele frequency of 0.1% in European ancestry (1 in 500 are carriers). ExAC data strongly suggests that this variant, which is more common, is probably a non-causal coincidental observation.1
2COL6A3-P3082RHighUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
Reported to cause early-onset dystonia by Zech et al (PMID: 26004199). Seen compound heterozygous with another variant in two affected siblings. Notably, two homozygous "control" individuals with South Asian ancestry are reported in ExAC, potentially contradicting the hypothesized effect.1
3C3-R102GModerateLikelyLikely pathogenic

Complex/Other, Heterozygous
0.152073This variant (also called C3F) is common in Europeans (10.2% allele frequency), and is associated with age-related macular degeneration. In the US, 1.5% of adults over 40 have the disease, but the incidence increases strongly with age (>15% in women over 80). Assuming an average lifetime risk of ~10%, heterozygous individuals have a ~13% risk and homozygous have ~20%.1
4PRF1-A91VLowLikelyLikely pathogenic

Complex/Other, Heterozygous
0.0325339This variant may be associated with a slightly increased susceptibility to some rare blood disorders, in particular autoimmune proliferative disease, if combined with a more severe mutation elsewhere. Most reports lack statistical significance.1
5KRT5-G138ELowLikelyLikely pathogenic

Unknown, Heterozygous
0.0521472This variant is associated with 1.25x increased risk of basal cell carcinoma (common skin cancer, rarely malignant).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
7WFS1-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
8H6PD-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
9TGFB1-R25PLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.0488858This variant in a growth factor gene is associated with variation in TGFB1 levels; this has been associated with various pathogenic and some protective effects, including: more hepatic fibrosis progression in hep C patients, lower risk of cleft palate, anticorrelation with longevity, higher risk of myocardial infarction and lower risk of hypertension.1
10TGIF1-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
11ELAC2-S217LLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.273471Reported to be associated with increased susceptibility to prostate cancer, but later studies weaken the hypothesis. Xu et al.'s meta-analysis concludes that there is a small but significant increased risk (OR = 1.13). Assuming a lifetime risk of 16% for prostate cancer we calculate this leads to an increased risk of ~1.5% (17.5% total).1
12ELAC2-A541TLowUncertainUncertain pathogenic

Unknown, Heterozygous
0.0276074This variant is implicated as causing increased susceptibility to prostate cancer. However the variant has always been seen paired with S217L, it is unclear which variant is causal. Evidence is weak for both; one meta-analysis (Severi et al.) concluded that neither variant was pathogenic, a more recent meta-analysis (Xu et al.) found the data to be significant but the odds ratio was not strong and concluded they are "low-penetrance susceptibility markers of prostate cancer".1
13BRCA2-N372HLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.23656This is a common variant of BRCA2 (HapMap allele frequency of 23%). The variant is weakly associated with an increased chance of breast cancer, and zygosity of the variant is associated with sex of children: male children are more likely to be homozygous for this variant, female children are more likely to be heterozygous.1
14TP53-P72RLowUncertainUncertain pathogenic

Unknown, Homozygous
0.627743This is a common variant was first reported as a polymorphism. It has since had mixed associations with cancer: Storey et al. conclude a 7x *increased* risk of HPV cancer for homozygotes vs hets, but Jones et al. find a 1.98x *decreased* risk for colorectal cancer. This variant may have significant impact on particular cancers, but it is unclear what effect it has on the overall burden of cancer.1
15SP110-L425SLowUncertainUncertain pathogenic

Unknown, Homozygous
0.863357This variant is associated with a slightly increased risk of tuberculosis. It is unclear whether it is itself causal, or in linkage disequilibrium with some other causal variant that has a stronger effect.1
16rs1544410LowUncertainUncertain pharmacogenetic

Unknown, Homozygous
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
17PRNP-M129VLowWell-establishedWell-established protective

Complex/Other, Homozygous
0.339561This variant is associated with some protective effects for prion disease -- individuals homozygous for this variant are less susceptible to Creutzfeldt-Jakob, and Papua New Guinea individuals heterozygotes at this site are less susceptible to kuru. 1
18NPC1-H215RLowLikelyLikely protective

Complex/Other, Homozygous
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
19KCNJ11-K23ELowLikelyLikely protective

Unknown, Homozygous
0.738148This variant is associated with decreased risk of type 2 diabetes. It is unclear whether this variant has additive effects, or acts in a dominant or recessive manner. Assuming diabetes has a lifetime risk of 36%, we estimate a decreased risk of around 1-2% per copy of this variant.1
20IL7R-T244ILowLikelyLikely protective

Unknown, Homozygous
0.210169The reference genome variant for this allele has been associated with a slight increased risk of multiple sclerosis. Thus, this variant can be treated as a "protective" variant -- carriers of this variant are slightly less likely to have MS. Because the disease is rare and the effect of this variant is not very strong, the absolute decreased risk for carriers of this variant is less than .05% (less than 1 in 2000).1
21MTR-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
22ADA-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
23OCA2-R419QLowLikelyLikely benign

Unknown, Heterozygous
0.0565161This variant is associated with eye color, as is OCA2 R305W. Individuals with this variant are reported to be more likely to have green/hazel eyes as opposed to blue/gray eyes. Other variants in this gene are associated with oculocutaneous albinism (albinism which involves skin and eyes).1
24JAK3-P151RLowLikelyLikely benign

Unknown, Heterozygous
Reported in ClinVar to cause Severe Combined Immunodeficiency Disease (aka "bubble boy disease"). However the variant is carried by nearly 1 in 100 individuals with European ancestry, and 1 in 12,000 are predicted to be homozygous. The disease is extremely rare -- highest estimate is 1 in 50,000 -- the high frequency of this variant means it cannot be a cause of this disease.1
25NEFL-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
26GJB3-A194TLowLikelyLikely benign

Unknown, Heterozygous
Reported to cause deafness when combined with a pathogenic mutation in another gene (GJB2). This effect is recorded in ClinVar by OMIM (http://www.ncbi.nlm.nih.gov/clinvar/RCV000006866/) and is reported by Liu et al 2009 (PMID: 19050930) who found this variant heterozygous in one of 108 Chinese patients already carrying a putatively pathogenic a GJB2 variant. However, in ExAC data this variant has an allele frequency of 0.72% in east asian ancestry. Thus, 1 in 70 are expected to carry it heterozygously in this population; matching Liu et al's observation in cases. Due to high allele frequency, and lack of enrichment for the variant cases, the proposed effect should be considered disproven.1
27CACNA1S-L458HLowLikelyLikely benign

Unknown, Heterozygous
0.27282Common polymorphism1
28LOXL1-R141LLowUncertainUncertain benign

Complex/Other, Heterozygous
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
29ERCC6-R1230PLowUncertainUncertain benign

Unknown, Heterozygous
0.0695297Probably benign.1
30SLC45A2-L374FLowUncertainUncertain benign

Unknown, Homozygous
0.691764Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma.1
31PTCH1-P1315LLowUncertainUncertain benign

Unknown, Homozygous
0.29631Common polymorphism, presumed benign.1
32PCSK9-G670ELowUncertainUncertain benign

Unknown, Homozygous
0.888269This variant is likely benign. 1
33MAPT-R370WLowUncertainUncertain benign

Unknown, Heterozygous
0.155549Probably benign.1
34APOB-Y1422CLowUncertainUncertain benign

Unknown, Homozygous
0.999628This position is almost certainly an error in the HG18 reference sequence. 1
35RP1-N985YLowUncertainUncertain benign

Unknown, Heterozygous
0.348671Probably benign. One report linked this variant to high triglycerides, but a later paper found a nearby SNP with similar association and suggests that both findings are caused by linkage to an undiscovered causal variant.1
36TAS2R38-I296VLowUncertainUncertain benign

Unknown, Homozygous
0.463376This variant is associated with "taster" status of PTC, along with 49P and 262A. Due to linkage disequilibrium, the independent effects of positions 296 and 262 is unclear. The presence of 49P confers taster status in a dominant fashion, but in the absence of 49P, the presence of 262A/296V is still positively associated with tasting PTC.1
37TPCN2-G734ELowUncertainUncertain benign

Unknown, Homozygous
0.286166Pigmentation allele.1
38THBD-A473VLowUncertainUncertain benign

Unknown, Heterozygous
0.140387While other variants in THBD are associated with atypical hemolytic-uremic syndrome, this variant is not very rare and appears to most likely be benign. Delvaeye et al. note that the frequency of this variant is not significantly different between affected subjects and unaffected ones, and PolyPhen-2 predicts that it is benign as well.1
39TAS2R38-A49PLowUncertainUncertain benign

Unknown, Homozygous
0.431121This variant is strongly associated with causing the "taster" phenotype of phenylthiocarbamine (PTC) in a dominant manner.1
40TYR-S192YLowUncertainUncertain benign

Unknown, Homozygous
0.270682This variant is reported to affect skin pigmentation. It is associated with lighter skin in South Asians (OR 4-5) and with a lack of freckles in Europeans (OR 1.3).1
VariantPrioritization scoreAllele
freq
Num of
articles
Zygosity and Prioritization Score Reasons

Exome coverage: 32578045 / 33282720 = 97.88%

GeneChromosomeCoverageMissingLengthMissing regions
1AGRN10.942978168784623506138955553-955614, 955624, 955636-955735, 955750, 970688-970704, 976217-976223, 976235, 976622, 976695, 977056-977082, 978680-978686, 981929-981931, 981985-981987, 982032-982048, 983607, 983610-983612, 983627-983667, 983687-983736, 983740, 984302, 984356, 984362, 984365, 984369-984370
2GABRD10.949963208241356813591950863-1950930
3PEX1010.98267074413863179812337932-2337948
4NPHP410.9663629992992314442816038330-6038473
5ESPN10.8732943469785632525656485282-6485301, 6488304, 6488322, 6488325, 6488381, 6488389, 6488429, 6500416, 6500449-6500488, 6500741, 6500754-6500791, 6500830-6500868, 6501032, 6505726-6505738, 6505851-6505854, 6505914-6505937, 6508727-6508766, 6508922-6508928, 6509017-6509060, 6509100-6509145, 6512130
6PLEKHG510.989338350580123431896529179-6529212
7TARDBP10.9357429718875580124511073912, 11082234, 11082274-11082278, 11082322-11082362, 11082442, 11082530, 11082584-11082613
8MASP210.997088791848626206111087684, 11105502-11105504, 11105510, 11106772
9PLOD110.9913003663003719218412026320-12026322, 12030748-12030760, 12030871-12030873
10ATP13A210.99915325994923354317313602-17313604
11HSPG210.99521857923497631317622263648-22263710
12WNT410.9270833333333377105622469339-22469415
13FUCA110.9871520342612418140124194454-24194456, 24194675-24194689
14SEPN110.89808153477218170166826126722-26126876, 26126888-26126890, 26126893-26126904
15LEPRE110.996834011759387221143232409-43232411, 43232510, 43232579, 43232602, 43232615
16ALG610.997385620915034153063836714-63836717
17RPE6510.9937578027465710160268914364-68914373
18AGL10.999782561426414599100357257
19COL11A110.968114348543161745457103352506, 103354138-103354143, 103354153-103354166, 103354422, 103354428, 103354434, 103355032, 103355082-103355089, 103356059-103356060, 103363681-103363685, 103364231-103364233, 103364253-103364329, 103364497-103364500, 103364531-103364550, 103380270-103380277, 103387105-103387108, 103400073, 103400076, 103412487-103412489, 103471842-103471854
20GSTM110.68493150684932207657110230496-110230531, 110230839-110230841, 110230854, 110230858, 110231301-110231302, 110231691, 110231714, 110231724-110231726, 110231739, 110231852-110231877, 110231893-110231947, 110232908-110232910, 110232983, 110233076-110233142, 110233153-110233158
21NOTCH210.971548004314992117416120539665-120539714, 120539739-120539784, 120539913-120539939, 120547962-120547968, 120548022-120548058, 120548091-120548097, 120572544-120572575, 120572609-120572610, 120611960, 120611964, 120612006
22FLG10.5738552437223519312186152275184-152275190, 152275599-152275602, 152275659, 152275688, 152275720, 152275725-152275727, 152275798, 152275844-152275866, 152276045, 152276052, 152276111-152276152, 152276160-152276299, 152276326, 152276343-152276407, 152276441-152276469, 152276487-152276529, 152276546-152276658, 152276668-152276707, 152276715-152276744, 152276758-152276775, 152276794-152276808, 152276828-152276893, 152276904-152276940, 152276970-152277017, 152277032-152277063, 152277081-152277111, 152277119-152277191, 152277200-152277253, 152277267-152277297, 152277312-152277410, 152277426-152277564, 152277585-152277646, 152277653-152277759, 152277791-152277845, 152277857-152277887, 152277904-152277915, 152277932, 152277963-152278060, 152278090-152278096, 152278110-152278133, 152278143, 152278157-152278197, 152278211-152278250, 152278300-152278309, 152278330-152278376, 152278385-152278445, 152278459-152278506, 152278527, 152278552-152278575, 152278589-152278646, 152278665-152278720, 152278806-152278827, 152278840-152278859, 152278904, 152278935-152278966, 152278972-152279005, 152279019, 152279047-152279068, 152279086, 152279129-152279135, 152279165, 152279169-152279170, 152279182, 152279197-152279222, 152279253-152279339, 152279348-152279418, 152279439-152279478, 152279502, 152279517-152279537, 152279563-152279694, 152279703-152279769, 152279778-152279826, 152279840-152279841, 152279846-152279864, 152279898-152280001, 152280029-152280059, 152280074-152280122, 152280141, 152280145-152280235, 152280265, 152280274, 152280284-152280290, 152280313, 152280344-152280381, 152280411-152280418, 152280436-152280448, 152280467-152280489, 152280535-152280706, 152280712-152280791, 152280823-152280867, 152280897-152280940, 152280983-152281027, 152281036-152281079, 152281110-152281156, 152281219-152281220, 152281254-152281275, 152281314-152281328, 152281358-152281364, 152281382-152281430, 152281479, 152281492-152281509, 152281518-152281565, 152281576-152281605, 152281618-152281638, 152281660-152281736, 152281745-152281752, 152281805, 152281811-152281814, 152281836-152281881, 152281904-152281952, 152281981-152282052, 152282059-152282087, 152282098-152282162, 152282242-152282315, 152282357-152282421, 152282453-152282459, 152282515-152282584, 152282648-152282659, 152282729-152282770, 152282828-152282829, 152282897-152282917, 152282956, 152282974-152282975, 152283003, 152283013, 152283045-152283051, 152283054-152283057, 152283070-152283108, 152283116-152283153, 152283199-152283248, 152283271-152283272, 152283275-152283281, 152283283, 152283330-152283364, 152283402-152283433, 152283463-152283470, 152283556-152283559, 152283568, 152283748, 152283801, 152283819, 152283843, 152283846-152283855, 152283862, 152283890-152283918, 152283965-152283978, 152284068-152284071, 152284101-152284146, 152284158-152284189, 152284235-152284280, 152284302-152284331, 152284344, 152284353-152284355, 152284392-152284416, 152284462-152284521, 152284665-152284694, 152284703-152284742, 152284854, 152284937-152284943, 152285017-152285061, 152285096-152285144, 152285151-152285191, 152285211-152285241, 152285324-152285330, 152285397-152285410, 152285477, 152285480, 152285829, 152285840, 152285911-152285931, 152286002, 152286013-152286016, 152286032, 152286186-152286196, 152286277, 152286593-152286597, 152286606-152286612, 152286616
23F510.9998501872659216675169510233
24DARS210.996904024767861938173819560-173819565
25HMCN110.99994085639934116908185897753
26CFH10.9994588744588723696196659203-196659204
27CFHR110.996978851963753993196797238, 196797244, 196797292
28ADCK310.943930041152261091944227149201, 227149220, 227152701-227152702, 227152735-227152737, 227152788-227152815, 227152840-227152868, 227152892, 227152916-227152927, 227153029-227153041, 227153045, 227153413-227153429, 227153437
29GNPAT10.99510523739599102043231398503-231398512
30MTR10.9997367035281713798237013783
31RYR210.999194847020931214904237791272, 237821268-237821278
32FH10.97455968688845391533241682951-241682972, 241682978-241682994
33NET1100.99553322166387817915454748-5454755
34GATA3100.988764044943821513358100724-8100738
35DCLRE1C100.9956709956719207914970026, 14970029, 14981847-14981853
36PTF1A100.99898682877406198723482181
37MYO3A100.999793856936711485126359130
38RET100.998206278026916334543572732-43572737
39ERCC6100.9959839357429718448250708688-50708704, 50741004
40PCDH15100.995754797079325588955587194-55587218
41GLUD1100.92248062015504130167788819934, 88854150-88854156, 88854351, 88854397-88854437, 88854447-88854526
42PTEN100.99834983498352121289720651-89720652
43HPS6100.98797250859107282328103825386-103825408, 103826996-103827000
44SUFU100.99037800687285141455104263994-104264003, 104264005-104264008
45HTRA1100.98683298683299191443124221214-124221215, 124221252, 124221255-124221257, 124221284-124221293, 124221375-124221377
46TALDO1110.95364891518738471014747482-747502, 747516-747540, 763403
47CTSD110.978208232445522712391775363-1775368, 1785045-1785047, 1785050-1785063, 1785086-1785089
48TNNT3110.94337194337194447771955186-1955188, 1955191-1955201, 1958193-1958202, 1959692-1959700, 1959710-1959718, 1959721-1959722
49IGF2110.9845288326301117112161410-2161418, 2161451-2161452
50TH110.989206349206351715752187932-2187948
51KCNQ1110.9389463318562312420312466334-2466400, 2466460-2466485, 2466529-2466530, 2466585-2466609, 2466617, 2466633, 2466687-2466688
52CDKN1C110.569926393270244099512905900-2905908, 2905919-2905920, 2905930-2905981, 2906000-2906001, 2906004-2906060, 2906087-2906161, 2906187, 2906199-2906260, 2906286, 2906304-2906315, 2906347-2906482
53HBD110.9842342342342374445255652-5255658
54SMPD1110.994198312236291118966411931-6411941
55SBF2110.993333333333333755509868547-9868583
56HPS5110.999705014749261339018308138
57ANO5110.997447118891327274222271876-22271880, 22272337, 22272353
58SLC22A12110.76173285198556396166264359029-64359030, 64359173-64359175, 64359281-64359305, 64359386, 64359391-64359408, 64360251-64360271, 64360274-64360276, 64360880-64360946, 64360970-64361011, 64361197-64361198, 64361233-64361267, 64366006, 64366283-64366289, 64366298, 64366321-64366338, 64367158-64367287, 64367319-64367335, 64367902, 64368208-64368209
59LRP5110.97916666666667101484868080183-68080273, 68131361-68131370
60IGHMBP2110.999329309188462298268671477-68671478
61MYO7A110.93516847172082431664876867054-76867068, 76885912-76885923, 76886471-76886475, 76888595, 76888617-76888648, 76890091-76890145, 76890799-76890827, 76890834-76890860, 76890882-76890926, 76890941-76890978, 76891425-76891487, 76891513-76891515, 76892442-76892452, 76892586-76892608, 76892618-76892622, 76893079, 76893091, 76893137-76893143, 76893176-76893200, 76893503-76893518, 76894113-76894114, 76901109-76901116, 76901788, 76901793-76901798
62MTMR2110.9937888198757812193295657107-95657118
63TRPC6110.99606580829757112796101454095, 101454158-101454164, 101454166, 101454170, 101454198
64RDX110.9925799086758131752110108368-110108377, 110135505, 110135508-110135509
65HMBS110.9990791896869211086118960975
66WNK1120.9988809623723687149862852, 862855, 862861, 862864, 862899-862902
67VWF120.9822316986496115084426125328-6125344, 6125722-6125753, 6128064-6128087, 6128339-6128345, 6128443, 6128449-6128451, 6131926-6131932, 6131955-6131982, 6132003-6132033
68SCNN1A120.99954275262917121876458370
69ATN1120.99916036943745335737045892-7045894
70KRAS120.982456140350881057025380231-25380234, 25380247, 25380284-25380287, 25380303
71FGD4120.996523250760548230132764104, 32778592-32778593, 32778598, 32778630-32778631, 32778648, 32778701
72PKP2120.9852824184566437251433049525-33049561
73LRRK2120.999077004219417758440761497, 40761500-40761504, 40761544
74MLL2120.9998194293968931661449426906-49426908
75TUBA1A120.99780701754386145649522269
76KRT81120.995388669301717151852682999-52683005
77KRT86120.995208761122527146152697949-52697955
78CEP290120.9983870967741912744088472953-88472956, 88472959, 88519089-88519095
79TMPO120.9913669064748218208598909808-98909809, 98909887-98909901, 98909906
80SLC25A3120.998163452708912108998987770, 98987773
81TRPV4120.9996177370030612616110246176
82ATXN2120.875951293759514893942112036593-112036837, 112036847-112036867, 112036896-112036913, 112036921-112037057, 112037062, 112037067, 112037099-112037115, 112037145, 112037252-112037276, 112037280-112037285, 112037295, 112037303-112037318
83HNF1A120.99419831223629111896121416616, 121416622-121416625, 121434195-121434200
84PUS1120.9992211838006211284132414525
85B3GALTL130.998663994655982149731850839-31850840
86BRCA2130.99853758408891151025732912434-32912441, 32913641, 32913991, 32914190-32914194
87SUCLA2130.9920977011494311139248547470-48547479, 48562706
88RB1130.9924650161463921278748878114, 48934153, 48955383-48955384, 49027234, 49027243-49027246, 49039468-49039479
89ZIC2130.99124452782989141599100634401, 100637832-100637843, 100637849
90PCCA130.9990855052583422187101101518-101101519
91FGF14130.9749670619235819759103053973-103053991
92ERCC5130.999764095305514239103510671
93F7130.89363295880151421335113760192-113760196, 113760204-113760219, 113765004-113765007, 113765010-113765017, 113765025-113765081, 113765100-113765127, 113770003-113770004, 113770034-113770038, 113770048-113770049, 113772966-113772973, 113773105-113773111
94F10130.97955010224949301467113803520-113803549
95GRK1130.97813238770686371692114321930-114321933, 114322122-114322147, 114322184-114322190
96TEP1140.999112125824457788420876549-20876555
97PABPN1140.99674267100977392123790681-23790683
98FOXG1140.82857142857143252147029236624-29236632, 29236659-29236725, 29236732-29236756, 29236782-29236851, 29236860-29236940
99FANCM140.9982105091914811614745623187, 45623973-45623974, 45644693-45644694, 45645377-45645381, 45653099
100MGAT2140.999255952380951134450088161
101C14orf104140.9315831344471172251450092573, 50100300-50100303, 50100332, 50100677-50100693, 50100696, 50100704, 50100712-50100719, 50100786, 50100811, 50100845-50100846, 50100939-50100952, 50100978-50100997, 50101044-50101045, 50101048, 50101057, 50101061, 50101074, 50101151-50101175, 50101234-50101245, 50101357-50101360, 50101365, 50101370, 50101408-50101421, 50101453-50101472, 50101549-50101550, 50101561, 50101712-50101715, 50101743-50101748, 50101799-50101803
102GCH1140.99203187250996675355369263-55369268
103SYNE2140.99951746767033102072464443281, 64596812-64596820
104GALC140.998542274052483205888459478-88459480
105TTC8140.999354005167961154889336429
106AMN140.359030837004418731362103389037, 103390048-103390049, 103390060-103390147, 103390291, 103394763-103394780, 103394797-103394838, 103395130, 103395145, 103395149-103395151, 103395163-103395192, 103395203-103395204, 103395273, 103395278-103395286, 103395303, 103395501-103395584, 103395595, 103395765-103395787, 103395802-103395805, 103395811-103395816, 103395819-103395821, 103395829-103395870, 103395992-103396002, 103396007, 103396035-103396066, 103396261-103396278, 103396289-103396291, 103396298-103396381, 103396387-103396423, 103396502-103396664, 103396757, 103396766-103396776, 103396784-103396827, 103396913-103397017
107INF2140.937866666666672333750105173767-105173783, 105173909-105174124
108NIPA1150.8404040404040415899023086234-23086321, 23086342-23086411
109UBE3A150.9672754946727586262825615777-25615783, 25616251-25616286, 25616566-25616572, 25616620-25616626, 25616812-25616840
110SPRED1150.995505617977536133538617005-38617010
111CHST14150.99734748010613113140763527-40763529
112STRC150.992304804804841532843910863-43910903
113SPG21150.99892125134844192765262472
114HCN4150.999723145071981361273614898
115PSTPIP1150.75539568345324306125177325287, 77327849-77327876, 77327894-77327904, 77328143-77328276, 77329386-77329517
116RPS17150.98039215686275840882823386-82823393
117RPS17150.98039215686275840883207729-83207736
118FANCI150.999749184850771398789804853
119POLG150.99919354838713372089876828-89876830
120MESP2150.9815745393634822119490319673-90319676, 90319854-90319858, 90320119, 90320146, 90320149, 90320161-90320163, 90320170-90320176
121BLM150.999059708509644425491337481-91337484
122HBZ160.45454545454545234429203928-203974, 203985-204066, 204079-204095, 204278-204332, 204339, 204366-204397
123HBA2160.9114219114219138429222912-222948, 222980
124GNPTG160.93790849673203579181401971-1401983, 1401993-1402018, 1402104-1402118, 1402266-1402268
125CLCN7160.9797353184454924181524908-1524948, 1524968-1524975
126GFER160.78317152103561346182034222-2034258, 2034307-2034348, 2034404-2034447, 2034467-2034477
127TSC2160.988016224188796554242098660-2098666, 2100403-2100420, 2103394, 2103404-2103408, 2103413, 2108800, 2108829-2108832, 2110705-2110706, 2110716, 2110778-2110785, 2114412, 2133795-2133796, 2133805, 2134305-2134307, 2136197-2136203, 2138317-2138319
128PKD1160.28655514250319212129122139730, 2139779-2139783, 2139801-2139836, 2139919-2139928, 2140050-2140078, 2140383-2140398, 2140466-2140467, 2140469-2140474, 2140534-2140535, 2140587, 2140675-2140681, 2140688-2140691, 2140745-2140749, 2140785, 2140920-2140944, 2140954-2140957, 2141009-2141012, 2141021-2141175, 2141437, 2141440, 2141466-2141485, 2141499-2141528, 2141562, 2141570-2141575, 2141581-2141584, 2141844-2141854, 2143046, 2143054-2143066, 2147149-2147165, 2147205, 2147373-2147383, 2147450-2147488, 2147913-2147951, 2149645-2149646, 2149658-2149771, 2149862-2150072, 2150178-2150231, 2150237-2150265, 2150278-2150310, 2150397-2150559, 2152062-2152257, 2152382-2152634, 2152815-2152971, 2153267-2153896, 2154499-2154643, 2155323-2155475, 2155866-2156025, 2156092-2156305, 2156399-2156678, 2156806-2156949, 2157884-2158033, 2158253-2158393, 2158403-2159777, 2159792-2159793, 2159798-2159884, 2159895-2160043, 2160053-2160327, 2160338-2160424, 2160434-2160616, 2160622-2160670, 2160676-2160737, 2160743-2160779, 2160838-2160842, 2160852-2160878, 2160886-2160889, 2160899, 2160902, 2160905, 2160928-2160988, 2161004-2161164, 2161174, 2161178-2161189, 2161215-2161447, 2161455-2161540, 2161546-2161574, 2161593-2161763, 2161774-2161814, 2161833-2161872, 2162341-2162469, 2162789-2162898, 2162909-2162964, 2163168-2163202, 2163210-2163277, 2163283-2163293, 2164172-2164233, 2164289-2164291, 2164299, 2164304, 2164307-2164333, 2164351-2164389, 2164403-2164637, 2164654-2164851, 2164859-2164922, 2165388-2165405, 2165475-2165512, 2165558-2165604, 2165993-2166007, 2166013-2166034, 2166532-2166595, 2166607-2166625, 2166834-2166933, 2166945, 2166976, 2166980, 2166996, 2167007-2167040, 2167490-2167494, 2167544-2167599, 2167611-2167638, 2167792-2167800, 2167819-2167839, 2167860-2167892, 2167911-2167945, 2167953-2168019, 2168032-2168075, 2168087-2168115, 2168123-2168177, 2168187-2168215, 2168225-2168241, 2168267, 2168272, 2168286, 2168315-2168366, 2168377-2168431, 2168438-2168463, 2168690-2168718, 2168747-2168784, 2168800, 2168803, 2168834-2168846, 2169115-2169140, 2169154, 2169311, 2169324, 2169356-2169379, 2185477-2185482, 2185486, 2185502-2185690
129ABCA3160.99941348973607351152367688-2367690
130CREBBP160.99877200163733973293778440-3778442, 3778449-3778453, 3778900
131GLIS2160.969523809523814815754386814, 4386978, 4387259-4387263, 4387356-4387396
132ALG1160.8465949820788521413955128829-5128871, 5129065-5129087, 5130966-5131005, 5131016-5131052, 5132600-5132639, 5134829, 5134853-5134882
133ABCC6160.9835992907801474451216267141-16267181, 16267210-16267221, 16269777-16269792, 16271466-16271470
134OTOA160.9967836257309911342021696626-21696629, 21756233-21756239
135OTOA160.9929718875502799622572356-22572362
136PALB2160.999719180005621356123646222
137CLN3160.997722095671983131728497673-28497675
138PHKG2160.9877149877149915122130760142-30760146, 30760168, 30760171-30760174, 30760225-30760229
139SALL1160.987421383647850397551175640-51175689
140TK2160.987012987012991292466584012-66584023
141HSD11B2160.9195402298850698121867465178-67465182, 67465185, 67465198-67465280, 67465290-67465298
142CDH1160.996979992449988264968771348-68771355
143COG8160.99945622620991183969373233
144HP160.9688779688779738122172090452, 72092173-72092209
145GCSH160.950191570881232652281129754-81129778, 81129822
146MLYCD160.9709851551956843148283932853, 83932987-83933007, 83933085-83933105
147FOXC2160.998671978751662150686601869-86601870
148CYBA160.99829931972789158888709815
149APRT160.98342541436464954388878295-88878302, 88878307
150GALNS160.9719566602931844156988884473-88884475, 88923171-88923211
151SPG7160.997487437185936238889574833-89574838
152FANCA160.999771062271061436889882975
153PRPF8170.99957191780822370081587790-1587792
154CTNS170.98337489609312012033559794-3559810, 3559823, 3559853, 3560082
155PITPNM3170.9241025641025622229256358675-6358708, 6358722-6358727, 6358731-6358751, 6358760-6358836, 6358865-6358876, 6358906, 6358915-6358963, 6459705-6459726
156MYO15A170.9991503823279591059318024263-18024266, 18024404-18024406, 18024419-18024420
157SLC6A4170.999471737982041189328543231
158NF1170.9970657276995325852029422333-29422334, 29422360-29422361, 29422369-29422370, 29422375-29422377, 29527440-29527448, 29556047, 29556053-29556054, 29654536-29654537, 29663900, 29677289
159KRT10170.9777777777777839175538975236-38975242, 38975328, 38978763-38978793
160KRT14170.9358703312191791141939739531-39739562, 39741304-39741309, 39742811-39742835, 39742850-39742852, 39742987-39743011
161KRT16170.9493670886075972142239766265-39766281, 39768490-39768496, 39768706-39768753
162KRT17170.9615088529638250129939780465-39780471, 39780516-39780557, 39780761
163BRCA1170.9977011494252913565541215363-41215366, 41219668-41219676
164NAGS170.99937694704051160542082048
165PLEKHM1170.999053926206243317143552537, 43552717, 43552921
166COL1A1170.9922639362912434439548276608-48276641
167TRIM37170.9861830742659840289557105883, 57105890, 57105894-57105897, 57105915-57105929, 57119186-57119188, 57125084-57125087, 57125105-57125108, 57125111-57125114, 57128596-57128597, 57134368-57134369
168ACE170.9803621525121177392161554514-61554528, 61554548-61554595, 61554618, 61554654, 61554657-61554668
169TSEN54170.999367488931061158173512653
170ITGB4170.999817151215941546973753076
171GALK1170.9847328244274818117973754325-73754342
172SEPT9170.9903463940942617176175494663-75494666, 75494670-75494679, 75494684, 75494705, 75494709
173GAA170.997901364113336285978092017-78092022
174FSCN2170.67004732927654488147979495739-79495749, 79495789-79495795, 79495867, 79495957-79496010, 79496016-79496023, 79496167-79496173, 79496283, 79496336, 79502091-79502103, 79502122, 79502125-79502135, 79503172-79503225, 79503236-79503265, 79503282-79503287, 79503290-79503292, 79503648-79503654, 79503698-79503706, 79503720-79503815, 79503901-79503915, 79503928-79503955, 79503963-79504018, 79504030-79504033, 79504041-79504105
175NDUFV2180.9986666666666717509124962
176AFG3L2180.9774436090225654239412371604-12371622, 12377035-12377059, 12377072-12377081
177LAMA3180.99980003999221000221269659-21269660
178DSC3180.9959123002601311269128622567-28622576, 28622620
179DSC2180.992978566149319270628681871-28681882, 28681910-28681916
180SMAD4180.999397227245331165948593394
181TNFRSF11A180.9659643435980663185159992586-59992589, 59992597-59992650, 59992656-59992660
182CTDP1180.96396396396396104288677439972-77439974, 77439990-77439993, 77440006, 77440022-77440081, 77440128, 77440197, 77455290-77455296, 77456017, 77456062-77456065, 77457965-77457986
183ELANE190.42039800995025466804852329-852374, 852387-852395, 852876-852923, 852927-852938, 852959-853032, 853262-853271, 853283-853316, 853329-853403, 855590-855627, 855709, 855746-855760, 855763-855766, 855771, 855775-855778, 855960-855983, 856023-856026, 856038-856071, 856132-856164
184KISS1R190.736842105263163151197917517-917534, 917547, 917614-917615, 917627-917640, 917714-917737, 918575-918579, 918585-918595, 918631-918668, 919496, 919885-919903, 919974-919980, 920074-920084, 920090, 920290-920291, 920298-920344, 920353-920382, 920418-920449, 920529-920535, 920571-920585, 920642-920650, 920663, 920667-920669, 920702-920709, 920737-920745
185STK11190.9201228878648210413021219341, 1219344, 1220392-1220398, 1220451-1220453, 1220709-1220716, 1221244-1221254, 1221288-1221294, 1221317, 1221333-1221339, 1221979-1222005, 1223036-1223043, 1226624-1226646
186RAX2190.92612612612613415553771641-3771680, 3771717
187MAP2K2190.9077306733167111112034090698-4090706, 4097297-4097304, 4099411-4099412, 4123781-4123872
188C3190.9431089743589728449926702157, 6707204-6707218, 6709695-6709765, 6709827-6709835, 6709839, 6710732-6710738, 6713479-6713520, 6714003-6714053, 6714061-6714062, 6714064-6714069, 6714072-6714079, 6714186-6714223, 6714237-6714244, 6714364-6714366, 6714370-6714372, 6714423-6714441
189INSR190.992287298144133241497152802-7152813, 7293804-7293805, 7293820-7293823, 7293863-7293874, 7293889, 7293898
190PNPLA6190.99297188755022839847615880-7615882, 7615905-7615916, 7615966-7615978
191STXBP2190.993827160493831117827708056, 7708077-7708079, 7711154-7711160
192ADAMTS10190.99698067632851033128654232-8654241
193TYK2190.93602693602694228356410463128-10463142, 10463632-10463642, 10476221-10476226, 10476474-10476476, 10488890-10489082
194LDLR190.95857530003871107258311215934-11215935, 11215939, 11215999, 11216206, 11221328-11221335, 11221387, 11221417-11221431, 11222215, 11223989-11224035, 11224065-11224080, 11224082-11224084, 11224237-11224245, 11224261, 11224297
195PRKCSH190.997479521109014158711557901, 11558341-11558343
196MAN2B1190.9967061923583710303612758082, 12768261, 12768297, 12768321-12768322, 12768330-12768334
197CACNA1A190.98484244116474114752113318378-13318399, 13318563-13318589, 13318646-13318662, 13318673-13318678, 13318723, 13318791-13318814, 13319692-13319694, 13616943-13616953, 13617003-13617005
198NOTCH3190.9905254091300666696615288503-15288512, 15288804, 15308379-15308389, 15311625-15311636, 15311663-15311686, 15311698-15311699, 15311711-15311716
199JAK3190.97681337517940917-17940939, 17940944, 17941007-17941023, 17941341, 17953205-17953209, 17953240-17953261, 17953315, 17953325, 17955129, 17955151-17955157, 17955162, 17955189
200IL12RB1190.93413775766717131198918186634-18186640, 18188344-18188389, 18188405-18188445, 18197570-18197606
201CEBPA190.89879294336119109107733792633-33792648, 33792755-33792757, 33792848-33792864, 33792929-33792931, 33792969-33792976, 33792989, 33793008-33793010, 33793017-33793032, 33793042-33793048, 33793218-33793252
202SCN1B190.961586121437423180735521725-35521755
203MAG190.92822966507177135188135786793-35786795, 35790457-35790502, 35790536-35790571, 35790638-35790656, 35790688-35790706, 35790718-35790729
204TYROBP190.99410029498525233936398379, 36398481
205RYR1190.991598862208111271511739055732-39055733, 39055740-39055745, 39055763-39055773, 39055870-39055876, 39055912-39055954, 39055967, 39055974, 39055988, 39055999-39056038, 39056059-39056065, 39056182-39056188, 39075627
206ACTN4190.9835526315789545273639138425-39138438, 39138498-39138520, 39138546-39138547, 39219638-39219643
207TGFB1190.994032395566927117341837060, 41837111-41837115, 41854247
208ATP1A3190.999184339314853367842470890, 42470897, 42471000
209ETHE1190.938562091503274776544011012-44011013, 44011018, 44012096-44012106, 44012189-44012195, 44012205, 44015648-44015671, 44015690
210BCAM190.9501854795972494188745312400-45312440, 45324012-45324013, 45324026-45324030, 45324040-45324079, 45324173-45324178
211DMPK190.99735449735455189046285606-46285610
212FKRP190.9354838709677496148847259037, 47259087-47259101, 47259429-47259445, 47259490, 47259494-47259505, 47259551-47259567, 47259663-47259672, 47259708-47259714, 47260079-47260086, 47260167-47260174
213DBP190.8660531697341513197849138837-49138920, 49138951-49138990, 49139152-49139158
214BCAT2190.993214588634448117949303316-49303318, 49303462-49303466
215MYH14190.98281786941581105611150760729, 50764756-50764770, 50764796-50764840, 50764864-50764892, 50766594-50766596, 50770222-50770230, 50795554-50795555, 50795563
216KCNC3190.508355321020231118227450823503-50823522, 50823543, 50823547-50823579, 50823604, 50826238-50826240, 50826250-50826276, 50826298-50826330, 50826343-50826348, 50826354-50826482, 50826554-50826556, 50826564, 50826664-50826702, 50826714-50826715, 50826718-50826723, 50831470-50831475, 50831486-50831487, 50831510-50831521, 50831527-50831530, 50831542-50831616, 50831625-50832339
217NLRP12190.9767733835530474318654312879, 54313037-54313055, 54313506-54313523, 54313657-54313682, 54313799, 54313805, 54313875, 54314269-54314275
218PRKCG190.91069723018147187209454392932, 54392974, 54392981-54392989, 54401244-54401250, 54401760-54401798, 54401813-54401873, 54409571-54409594, 54409644-54409670, 54409691, 54409695-54409708, 54409986-54409987, 54410093
219PRPF31190.9553333333333367150054632536-54632545, 54632654-54632682, 54632713-54632735, 54634788-54634789, 54634793-54634794, 54634858
220TNNT1190.6692015209125526178955644285, 55644288-55644289, 55644299-55644328, 55645255-55645295, 55645434-55645491, 55645508-55645524, 55648500-55648502, 55648523, 55649351, 55649412-55649413, 55649426-55649442, 55652314, 55652327-55652328, 55652630, 55657802-55657830, 55658049-55658075, 55658388-55658389, 55658494-55658519
221TNNI3190.926108374384244560955665499-55665501, 55666109, 55666171-55666188, 55667685-55667695, 55668450-55668452, 55668478-55668486
222TPO20.995717344753751228021481231, 1520691-1520693, 1544483-1544488, 1544491-1544492
223KLF1120.9727095516569242153910183844-10183885
224MYCN20.999283154121861139516082694
225OTOF20.89606272939606623599426695412, 26695441-26695459, 26696162, 26696889-26696932, 26696964-26696978, 26697381-26697490, 26697516-26697531, 26698328-26698353, 26698782-26698793, 26698802-26698820, 26698885-26698906, 26699030-26699036, 26699067-26699077, 26699104-26699107, 26699126, 26699133-26699172, 26699759-26699911, 26700043-26700054, 26700079-26700144, 26700308-26700312, 26700316-26700317, 26700339-26700342, 26700346-26700356, 26700517-26700519, 26700545-26700550, 26700611-26700617, 26702135-26702139, 26702182
226SPAST20.9702863317125955185132289037, 32289121-32289127, 32289133-32289145, 32289157, 32289194-32289226
227CYP1B120.9877450980392220163238302197-38302212, 38302428-38302431
228SOS120.9965017491254414400239285827-39285840
229ABCG820.9935707220573713202244099241-44099242, 44099246-44099256
230LRPPRC20.997849462365599418544209472, 44209558-44209564, 44222991
231EPCAM20.9957671957672494547596645, 47596671, 47596677, 47596680
232MSH220.99821746880575280547698197-47698201
233MSH620.97183443546412115408348010379-48010395, 48010431, 48010469, 48010472-48010481, 48010487, 48010493, 48010526-48010585, 48010602-48010625
234ALMS120.99680102367242401250473613015-73613034, 73613292-73613302, 73676486-73676487, 73679586, 73679629-73679634
235REEP120.9950495049505360686564624-86564626
236EIF2AK320.999104744852283335188926730-88926732
237RANBP220.93126614987086659675109345588-109345589, 109347230, 109352000-109352029, 109352113-109352145, 109352185-109352191, 109357110-109357116, 109365376-109365394, 109365426, 109365547, 109367720-109367741, 109368103-109368145, 109368430-109368450, 109369915-109369921, 109370316-109370352, 109371497, 109371656-109371662, 109378557-109378560, 109382700-109382706, 109383051-109383058, 109383071-109383124, 109383142-109383169, 109383204-109383224, 109383248-109383274, 109383295-109383301, 109383315-109383360, 109383483-109383515, 109383656-109383682, 109383771-109383772, 109383777, 109383795, 109383869-109383891, 109383961-109383986, 109384004-109384017, 109384167, 109384460-109384472, 109384542-109384567, 109384593-109384641, 109384781-109384788
238MERTK20.99533333333333143000112656319-112656332
239CFC120.986607142857149672131280383, 131280809-131280816
240ZEB220.9994513031550123645145274903-145274904
241NEB20.99994993491539119974152432817
242SCN1A20.9994997498749435997166848929-166848931
243AGPS20.9984825493171531977178257655-178257657
244PRKRA20.998938428874731942179315741
245TTN20.9996708163753933100248179523978, 179527751-179527782
246CERKL20.9943714821763691599182468589, 182468705-182468707, 182468778-182468780, 182468783-182468784
247PMS120.997856377277662799190670442, 190718669-190718671, 190719357, 190719591
248MSTN20.98758865248227141128190927008-190927014, 190927092-190927093, 190927096-190927100
249CASP820.99381570810142101617202149668-202149677
250BMPR220.9897337183189323117203242258-203242268, 203397427-203397431, 203421073-203421088
251ABCA1220.9997431946584527788215823008, 215823170
252DES20.9992922859164911413220283708
253D2HGDH20.94955300127714791566242707147-242707149, 242707161-242707164, 242707185, 242707193, 242707198-242707225, 242707303-242707342, 242707377, 242707384
254AVP200.94747474747475264953063310-3063311, 3063334-3063350, 3063442-3063448
255FERMT1200.99950835791544120346077666
256C20orf7200.99903660886321103813765725
257SNTA1200.9163372859025127151832031123, 32031129-32031132, 32031173, 32031233-32031236, 32031308, 32031311-32031426
258CTSA200.997995991983973149744520238-44520240
259GNAS200.98102981029811473857415183-57415196
260GNAS200.999678869621071311457429647
261COL9A3200.9878345498783525205561448427-61448435, 61448443-61448448, 61448933-61448942
262CHRNA4200.80997876857749358188461981067-61981070, 61981452-61981464, 61981616, 61982036-61982042, 61987327-61987337, 61987362-61987436, 61987730-61987746, 61987766-61987767, 61990900-61991051, 61992442-61992517
263KCNQ2200.75868652157312632261962070951-62070974, 62071036-62071039, 62076012-62076049, 62076068-62076102, 62076124-62076176, 62076596-62076717, 62078100-62078111, 62078117-62078175, 62103521-62103744, 62103756-62103816
264SOX18200.66147186147186391115562679938-62679944, 62680028-62680035, 62680091-62680095, 62680200-62680206, 62680285-62680313, 62680512-62680798, 62680812-62680859
265IFNGR2210.9368836291913264101434775850-34775859, 34775869-34775922
266RCAN1210.928853754940715475935987180-35987218, 35987268-35987271, 35987286-35987296
267AIRE210.9743589743589742163845705919, 45705988-45705990, 45714320-45714326, 45714343, 45714347, 45716279-45716307
268ITGB2210.99783549783555231046308662-46308666
269COL18A1210.90446343779677503526546910189-46910216, 46911139-46911156, 46913478-46913485, 46914459-46914478, 46914781-46914791, 46916414-46916420, 46916446-46916456, 46916966-46916991, 46917513-46917521, 46917546, 46917552-46917570, 46923925-46923932, 46923938-46923941, 46923948-46923957, 46923964-46923968, 46924330-46924368, 46924392, 46924426-46924470, 46925055-46925084, 46925094-46925164, 46925177-46925192, 46925284-46925329, 46925752-46925755, 46925802-46925828, 46927487-46927494, 46927501, 46929454-46929472, 46931035-46931040, 46931049, 46931120-46931123
270COL6A1210.70229996760609919308747401765-47401861, 47402548-47402677, 47404183-47404383, 47406440-47406599, 47406858-47406986, 47407069-47407089, 47407413-47407433, 47407524-47407568, 47409006-47409024, 47409670-47409692, 47410172-47410198, 47410292-47410317, 47410324-47410336, 47418039-47418045
271COL6A2210.85947712418301430306047531435-47531502, 47531977-47532015, 47537800-47537817, 47539708, 47539712, 47539723, 47539726, 47540473-47540491, 47540981, 47541018-47541020, 47541023-47541026, 47542846-47542851, 47545219, 47545709-47545714, 47545722, 47545729-47545730, 47545765-47545776, 47545976-47545987, 47551872-47551904, 47551964-47551966, 47551993-47551995, 47551998, 47552002-47552003, 47552008-47552012, 47552055-47552079, 47552105-47552134, 47552151, 47552162, 47552176-47552177, 47552205, 47552208, 47552222-47552223, 47552249-47552263, 47552278-47552310, 47552345-47552406, 47552418-47552424, 47552460-47552466
272COL6A2210.4561403508771918634247552205, 47552208, 47552222-47552223, 47552249-47552263, 47552278-47552310, 47552345-47552406, 47552418-47552424, 47552460-47552524
273FTCD210.382533825338251004162647556901-47556915, 47556945-47556983, 47557155-47557162, 47557185-47557201, 47557213, 47557232, 47557242-47557248, 47558441-47558505, 47558514, 47558524, 47558543-47558560, 47558794, 47558797, 47558820-47558824, 47558831, 47558835-47558837, 47565331-47565492, 47565732-47565861, 47566180-47566241, 47570044-47570061, 47570074-47570111, 47570133-47570138, 47570149-47570152, 47570159-47570164, 47570302-47570330, 47570378-47570380, 47570386, 47570408-47570439, 47571472-47571502, 47571520, 47571553-47571567, 47571572-47571573, 47571583-47571588, 47571591, 47571599, 47571602-47571607, 47571615-47571651, 47571806-47571843, 47571883-47571894, 47572888, 47572922-47572934, 47572949, 47574079-47574118, 47574127-47574151, 47574178-47574244, 47575406-47575437
274PRODH220.998890737659462180318923541, 18923548
275GP1BB220.587761674718225662119711377-19711436, 19711442-19711451, 19711517, 19711523, 19711566-19711576, 19711638-19711646, 19711674-19711760, 19711775, 19711784-19711792, 19711802-19711809, 19711820-19711821, 19711828-19711832, 19711836, 19711855-19711879, 19711895, 19711903-19711910, 19711970-19711986
276TBX1220.91801075268817122148819748433-19748452, 19748477-19748538, 19748542-19748559, 19748562, 19748581-19748582, 19748633-19748639, 19754025-19754036
277UPB1220.9956709956715115524906771-24906775
278CHEK2220.9846678023850127176129083948-29083965, 29085163-29085171
279SLC5A1220.997994987468674199532495328-32495331
280TRIOBP220.9919695688926557709838119869, 38119882-38119884, 38119894, 38119902, 38120013-38120052, 38120176-38120178, 38120797, 38120962-38120968
281PLA2G6220.5828220858895720448938508274-38508308, 38508514-38508539, 38508551-38508562, 38508566-38508567, 38509508-38509509, 38509512-38509529, 38509556-38509591, 38509604-38509645, 38509750, 38509753-38509754, 38509762, 38509810-38509823, 38509857-38509869
282PLA2G6220.86245353159851333242138508168-38508211, 38508221-38508308, 38508514-38508539, 38508551-38508562, 38508566-38508567, 38509508-38509509, 38509512-38509529, 38509556-38509591, 38509604-38509645, 38511556-38511582, 38511588-38511608, 38511637-38511648, 38511651, 38511680-38511681
283EP300220.9966873706004124724541546092-41546109, 41546122, 41546125, 41574379-41574381, 41574441
284TNFRSF13C220.6180180180180221255542322145-42322176, 42322218-42322256, 42322266, 42322275-42322327, 42322642-42322713, 42322730-42322744
285ATXN10220.9908963585434213142846067951-46067963
286MLC1220.9594356261022946113450502485-50502504, 50502566-50502571, 50502576-50502578, 50502593-50502595, 50523193-50523206
287TYMP220.9427191166321683144950964256, 50964304-50964327, 50964446, 50964482-50964532, 50964785, 50968010-50968014
288SHANK3220.76277650648361244524451113070-51113132, 51113476-51113679, 51115054, 51115057, 51115061-51115063, 51115072, 51115076, 51115088-51115121, 51117013-51117121, 51117197-51117348, 51117447-51117451, 51117461-51117614, 51117740-51117856, 51121768-51121845, 51123013-51123079, 51133244-51133245, 51133252, 51133257-51133258, 51135706-51135712, 51135951-51136143, 51158733-51158739, 51158922-51158923, 51159079-51159087, 51159273-51159296, 51169559-51169560, 51169568-51169569, 51169677-51169679
289FANCD230.999773550724641441610132031
290VHL30.98909657320872764210183702-10183708
291TGFBR230.9893198426082119177930648429, 30691868-30691885
292SLC25A2030.99227373068433790648936219, 48936222-48936227
293TKT30.996794871794876187253289872-53289875, 53289932-53289933
294ATXN730.94326990838619161283863898275-63898281, 63898313-63898328, 63898343-63898344, 63898348, 63898351, 63898424-63898557
295ARL13B30.9386169386169479128793754242, 93758818, 93761916-93761923, 93761952, 93761982-93762049
296CPOX30.9882783882783916136598312143-98312158
297IQCB130.9961046188091371797121526226-121526228, 121526271-121526274
298NPHP330.970949161031811163993132440999-132441035, 132441041-132441084, 132441118-132441151, 132441159
299FOXL230.9938107869142471131138664884-138664890
300PLOD230.9995608256477812277145809678
301PDE6B40.9812865497076482565651182, 657605, 657911, 658693, 658699, 659050-659051, 659055-659056, 659060-659064, 659106-659112, 660326, 660330, 661748-661772
302IDUA40.98318042813456331962995919, 996699, 996714-996717, 996881-996907
303HTT40.9763495598684922394293076566-3076603, 3076604-3076780, 3076808-3076815
304DOK740.9986798679868215153465119, 3495095
305EVC40.99697885196375929795713111-5713116, 5713119-5713121
306COQ240.9956709956715115584205901-84205905
307CDS140.9985569985572138685569772-85569773
308PKD240.95356037151703135290788928890, 88928898-88928957, 88928964-88929004, 88929057-88929086, 88929174-88929176
309CISD240.9264705882352930408103808512-103808522, 103808569-103808587
310HADH40.99576719576724945108911140-108911142, 108911183
311CFI40.9977168949771741752110723113-110723116
312MFSD840.9948619139370681557128859986-128859993
313GK40.98736462093863211662166199284-166199290, 166199603-166199609, 166200757-166200763
314SDHA50.98546365914787291995251562-251583, 256469-256475
315SLC6A1950.9375328083989511919051201767-1201779, 1201798-1201835, 1201855-1201876, 1201902-1201920, 1201939, 1201942-1201967
316TERT50.64165931156222121833991271282-1271296, 1271318-1271319, 1272332-1272339, 1278826-1278827, 1279421-1279442, 1279474-1279481, 1279514-1279543, 1280291-1280328, 1280355-1280388, 1280446-1280453, 1293451-1293492, 1293515-1293526, 1293628-1293770, 1293818-1293824, 1293887-1293914, 1293931-1293959, 1293973-1293990, 1294033-1294036, 1294052, 1294056, 1294074-1294111, 1294138-1294289, 1294307-1294352, 1294375-1294440, 1294463-1294482, 1294488-1294489, 1294510-1294527, 1294536-1294651, 1294675-1294763, 1294886-1295104
317SLC6A350.9039184111647917918631414806-1414930, 1420697-1420698, 1420739, 1420792-1420797, 1422001-1422043, 1422088, 1422109
318NDUFS650.90133333333333373751801538-1801574
319NIPBL50.999881164587051841537048665
320ERCC850.999160369437451119160200665
321SMN250.979661016949151888569362946-69362961, 69372350, 69372353
322SMN250.98192090395481688570238370-70238385
323RASA150.9933206106870221314486564375, 86564390, 86564408, 86564498, 86564543-86564553, 86564709, 86564713, 86564720-86564722, 86564791
324APC50.9998827941865918532112111326
325LMNB150.94718909710392931761126113228-126113258, 126113339-126113340, 126113366-126113387, 126113465-126113470, 126113475, 126113482-126113484, 126113495-126113522
326FBN250.99759697905939218739127644998, 127873062, 127873119, 127873172-127873176, 127873284-127873296
327SPINK550.99452054794521183285147499871-147499888
328ADRB250.9943639291465471242148207630-148207636
329SQSTM150.9984882842025721323179247937, 179247943
330FLT450.770039100684269414092180043374-180043391, 180043457-180043489, 180045773-180045813, 180045824-180045920, 180046021-180046051, 180046073-180046090, 180046108-180046109, 180046260-180046281, 180046301-180046318, 180046344-180046349, 180046669-180046694, 180046724-180046769, 180047236-180047239, 180047626-180047647, 180047965-180047975, 180048232-180048238, 180048621-180048623, 180048763-180048769, 180050976, 180051044-180051048, 180052938-180052976, 180055882-180055885, 180055952, 180055955-180055957, 180056319-180056392, 180056778-180056790, 180056821-180056835, 180056943-180057095, 180057104-180057105, 180057264-180057270, 180057300-180057305, 180057309-180057321, 180057330-180057331, 180057557-180057604, 180057628-180057644, 180057647-180057649, 180057692, 180057707-180057710, 180057741-180057768, 180057772-180057776, 180058742-180058768, 180076488-180076545
331FOXC160.99819494584838316621611803-1611805
332TUBB2B60.991031390134531213383225444-3225454, 3225492
333ATXN160.9599673202614498244816327862-16327959
334TNXB60.9678589942975662192931976916, 31976926, 31977388-31977394, 31977786-31977792, 31977994-31978001, 31978498-31978535
335CYP21A260.997983870967743148832006317, 32006337, 32008451
336TNXB60.99850734543169191272932009651, 32009661, 32010123-32010129, 32010523, 32010729-32010735, 32011235, 32011248
337HLA-DQB160.885496183206119078632632575-32632664
338SYNGAP160.9769345238095293403233388042-33388108, 33393586-33393587, 33393630-33393634, 33411181-33411190, 33411710-33411717, 33411723
339RPS1060.9859437751004749834392465-34392471
340FANCE60.9894475481067717161135420402-35420418
341MOCS160.85243328100471282191139893446-39893455, 39893480-39893482, 39893509-39893515, 39893539-39893574, 39895068-39895177, 39895186-39895275, 39895292-39895317
342PEX660.997281685355088294342946194-42946196, 42946639-42946643
343RUNX260.9731800766283542156645390482-45390523
344MUT60.998668442077233225349409567-49409569
345PKHD160.9993456032719881222551768784-51768791
346EFHC160.99843993759753192352319017-52319019
347EYS60.999788023317442943565016974-65016975
348LMBRD160.9802834257547832162370407507-70407509, 70410719-70410744, 70462188-70462190
349RIMS160.999803110848591507972892358
350SLC17A560.9798387096774230148874346381-74346394, 74363594-74363609
351OSTM160.9950248756218951005108395744-108395748
352FIG460.98384728340675442724110053840-110053845, 110081463-110081500
353GJA160.9939077458659771149121768922-121768928
354LAMA260.9993591797500869363129704320-129704325
355ENPP160.9989200863930932778132203499-132203500, 132203555
356EPM2A60.9698795180722930996146056524-146056534, 146056580-146056598
357SYNE160.997006895506557926394152527403, 152527451, 152532697, 152532705, 152532708, 152534803-152534852, 152545775-152545776, 152545779-152545783, 152554946, 152558053-152558062, 152675801-152675802, 152751298, 152751642-152751644
358TBP60.97254901960784281020170871014-170871019, 170871023-170871034, 170871037, 170871043-170871046, 170871064, 170871067, 170871070, 170871073, 170871076
359LFNG70.8289473684210519511402559496-2559551, 2559567-2559649, 2559665-2559688, 2559718-2559724, 2559835-2559840, 2559885-2559903
360PMS270.9439938200077314525896013046-6013052, 6026905-6026911, 6026956-6026962, 6026999-6027020, 6029450-6029465, 6042126, 6042129, 6043630-6043669, 6045529-6045572
361TWIST170.866995073891638160919156694-19156704, 19156806-19156867, 19156911-19156918
362DNAH1170.9998526377836721357221582963-21582964
363HOXA170.997023809523813100827135317-27135319
364HOXA1370.9494430162810659116727239319-27239335, 27239371-27239374, 27239447-27239475, 27239524, 27239527, 27239533-27239534, 27239547, 27239566-27239568, 27239576
365GARS70.99909909909912222030634719, 30634722
366CCM270.9595505617977554133545039933-45039962, 45113895-45113918
367NCF170.963382572639957-72639989
368ELN70.9839080459770135217573466259-73466293
369NCF170.9872122762148315117374193665-74193671, 74199607-74199613, 74202920
370POR70.86882036221243268204375613089-75613091, 75614204-75614212, 75614217, 75614227-75614261, 75614381-75614396, 75614407-75614412, 75614471-75614487, 75614927-75614936, 75614951-75614981, 75615012-75615037, 75615045-75615049, 75615154-75615166, 75615246-75615293, 75615297, 75615496-75615542
371AKAP970.9999147048788811172491690632
372COL1A270.9909778102901737410194049554-94049590
373SLC26A370.9982570806100242295107432353, 107432356-107432358
374CFTR70.97299122214721204443117188713-117188753, 117188760-117188800, 117188838-117188853, 117235016-117235037
375FLNC70.9991440449987878178128498187-128498193
376BRAF70.98305084745763392301140624395-140624432, 140624491
377PRSS170.9435483870967742744142460313, 142460335, 142460339, 142460366-142460397, 142460798-142460804
378KCNH270.99109195402299313480150671874-150671879, 150674926-150674936, 150674966-150674979
379SHH70.9978401727861831389155595750-155595752
380MNX170.78938640132672541206156799261-156799269, 156802523-156802547, 156802659-156802753, 156802777-156802798, 156802807-156802814, 156802822-156802823, 156802836-156802839, 156802849-156802864, 156802873-156802919, 156802928-156802951, 156802957, 156802960
381GATA480.993980436418368132911566055, 11566179-11566185
382ASAH180.994949494949496118817941508-17941513
383NEFL80.9932598039215711163224813411-24813420, 24813424
384ADAM980.998373983739844246038854647-38854650
385THAP180.929906542056074564242694358-42694361, 42698167-42698200, 42698211-42698216, 42698237
386HGSNAT80.93972746331237115190842995642, 42995652-42995757, 43046632-43046639
387TTPA80.99522102747909483763998484-63998487
388TMEM7080.982120051085571478374888629-74888642
389TMEM6780.999330655957162298894817019-94817020
390VPS13B80.99991662497916111994100443885
391KCNQ380.9996181748759112619133492571
392TG80.9998796195979318307133882071
393SLURP180.9487179487179516312143822635-143822636, 143823274-143823287
394CYP11B180.98214285714286271512143957128-143957132, 143958512-143958533
395CYP11B280.96626984126984511512143993947-143993994, 143994724, 143996539, 143996553
396PLEC80.996442547136255014055144998907-144998917, 144999127, 144999231-144999251, 145001588, 145001591, 145003833-145003834, 145006145-145006152, 145006379-145006383
397GPT80.97048960429242441491145731304-145731310, 145731709-145731720, 145732009-145732033
398RECQL480.98456024262476563627145737620, 145738674-145738696, 145739080-145739090, 145743148-145743168
399DOCK890.99714285714286186300382608-382612, 396820, 396876, 396881-396882, 399156, 399220, 399253-399259
400VLDLR90.99084668192222426222622208-2622231
401GLDC90.991838067254332530636645313, 6645385-6645406, 6645498-6645499
402NPR290.999363867684482314435792430, 35792434
403GNE90.996905393457127226236246454-36246460
404TRPM690.999835228208931606977454963
405VPS13A90.9980052493438319952579897177-79897190, 79908423, 79932591-79932594
406AUH90.998039215686272102094123949-94123950
407FOXE190.94295900178253641122100616308-100616329, 100616694-100616706, 100617117-100617145
408TGFBR190.95965608465608611512101867499-101867504, 101867528-101867582
409MUSK90.9988505747126432610113547935-113547936, 113547939
410DOLK90.9981447124304331617131708925, 131709029, 131709487
411TOR1A90.9739739739739726999132586202-132586226, 132586267
412SETX90.9982574060244148034135139893, 135158741-135158745, 135158749-135158750, 135172294, 135172301-135172302, 135221769-135221771
413CEL90.856891237340383252271135944524, 135946650-135946971, 135946986, 135947029
414SURF190.9789590254706519903136223295-136223313
415ADAMTS1390.952847805788982024284136293754-136293891, 136295119-136295175, 136295186-136295192
416DBH90.9962243797195371854136522237-136522241, 136522274, 136522277
417SARDH90.90569459557492602757136531866-136531911, 136531929-136531992, 136535706-136535797, 136535805, 136535818-136535819, 136536657-136536688, 136536724, 136536750-136536767, 136536786-136536789
418LHX390.98014888337469241209139090776-139090781, 139094814-139094831
419INPP5E90.97105943152455561935139333323-139333324, 139333333-139333351, 139333552-139333553, 139333613-139333641, 139333646, 139333682, 139333739, 139333758
420NOTCH190.948748043818473937668139407558-139407559, 139411733, 139412259, 139412266, 139412269-139412275, 139412370, 139412714, 139413066, 139413069, 139413072, 139417302-139417350, 139417361-139417391, 139417411, 139417419-139417534, 139417543-139417594, 139417619, 139417624-139417640, 139418176, 139418187, 139418192-139418193, 139418199, 139418216, 139418230-139418237, 139418266-139418301, 139418315-139418318, 139418322, 139418353, 139418363, 139418403-139418416, 139440181-139440195, 139440216-139440238
421AGPAT290.9414575866188849837139581693-139581697, 139581738-139581757, 139581774-139581797
422SLC34A390.98888888888889201800140128336-140128342, 140128346, 140128588-140128590, 140128616-140128624
423EHMT190.866050808314095223897140605457-140605466, 140611078-140611141, 140611152, 140611162-140611387, 140611399-140611465, 140611476-140611578, 140611582, 140611605-140611634, 140708916, 140728836-140728847, 140729282-140729283, 140729308, 140729382, 140729401-140729403
424SHOXX0.7155858930603250879591633-591683, 591693-591698, 591701-591713, 591720, 591734-591756, 591762-591786, 591795-591799, 591810-591819, 591846-591878, 591891-591909, 595379-595410, 595447-595453, 595467-595477, 595484-595485, 595502-595511, 595548, 595552
425CSF2RAX0.6390804597701147113051401597-1401602, 1401608-1401614, 1401653-1401672, 1404732-1404735, 1407443-1407475, 1407676-1407701, 1409278-1409284, 1409365-1409370, 1409380, 1409387, 1409391, 1413221-1413354, 1414320-1414331, 1414345-1414349, 1419384-1419431, 1419459-1419504, 1422154-1422255, 1422834-1422835, 1422868, 1422905-1422910, 1424369-1424371
426ARXX0.999407933688571168925031664
427RPGRX0.77507950274646778345938145139-38145149, 38145212, 38145229-38145602, 38145617-38145629, 38145648-38145765, 38145774, 38145794-38145863, 38145897, 38145901-38145986, 38146012-38146019, 38146055-38146080, 38146180-38146213, 38146237-38146270, 38146356
428NYXX0.9647302904564351144641332799, 41332902-41332911, 41333102-41333115, 41333239-41333243, 41333311-41333315, 41333401, 41333404, 41333409-41333417, 41333721-41333725
429ARX0.9963807455664110276366765161-66765167, 66766357-66766359
430MED12X0.9984695439240910653470361098-70361106, 70361115
431TAF1X0.9936642027455136568270586179-70586214
432ATRXX0.999866292285061747976890157
433ACSL4X0.9967228464419572136108887293-108887299
434UPF3BX0.98484848484848221452118971787-118971796, 118975042-118975045, 118977213, 118977218-118977224
435ZIC3X0.9978632478632531404136648985-136648987
436SLC6A8X0.96960167714885581908152954074-152954113, 152954164-152954181
437MECP2X0.9873079492318191497153363076-153363094
VariantPhase/
Zygosity
Allele freqImpactEvaluationSummary / Info
3PRNP-M129Vhomozygous0.340Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.628 (possibly damaging), Testable gene in GeneTests with associated GeneReview
2.5SCN4A-N1376Dhet unknown0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5SCN4A-G1306Ahet unknownUnknown
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.839 (possibly damaging), Testable gene in GeneTests with associated GeneReview
2.5SCN4A-S524Ghomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2NPC1-I858Vhomozygous0.445Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.061 (benign), Testable gene in GeneTests with associated GeneReview
2NPC1-M642Ihomozygous0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2NPC1-H215Rhomozygous0.296Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2C3-L583Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2C3-P314Lhet unknown0.146Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.159 (benign), Testable gene in GeneTests with associated GeneReview
2C3-R102Ghet unknown0.152Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.044 (benign), Testable gene in GeneTests with associated GeneReview
2APOB-S4338Nhomozygous0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-R4270Thet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-I2313Vhet unknown0.981Unknown
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
2TP53-P72Rhomozygous0.628Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.127 (benign), Testable gene in GeneTests with associated GeneReview
2PCSK9-V474Ihomozygous0.817Unknown
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
2GJB3-A194Thet unknownUnknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
2KCNJ11-V337Ihomozygous0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2KCNJ11-K23Ehomozygous0.738Unknown
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2TAS2R38-I296Vhomozygous0.463Unknown
benign
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.984 (probably damaging)
2TAS2R38-A49Phomozygous0.431Unknown
benign
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
2H6PD-R453Qhomozygous0.309Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
2SP110-M579Ihet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-M523Thet unknown0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-L425Shomozygous0.863Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-G299Rhet unknown0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-E207Khet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-A128Vhet unknown0.071Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-W112Rhomozygous0.917Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2STRA6-M527Ihet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.033 (benign)
2STRA6-T321Phet unknown0.001Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
2IL7R-I66Thomozygous0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2IL7R-V138Ihomozygous0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2IL7R-T244Ihomozygous0.210Unknown
protective
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2TBX22-E187Khomozygous0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests
1.5KRT5-G138Ehet unknown0.052Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.932 (probably damaging), Testable gene in GeneTests with associated GeneReview
1.5ADD1-G460Whomozygous0.157Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
1.5ADD1-S617Chomozygous0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5PRF1-A91Vhet unknown0.033Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.852 (probably damaging), 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
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
1EFHC1-R159Whomozygous0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.057 (benign), Testable gene in GeneTests
1KRT9-G126GSGGGFGGGhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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
1TYR-S192Yhomozygous0.271Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.919 (probably damaging), Testable gene in GeneTests with associated GeneReview
1B3GNT6-A191Thet unknown0.177Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1B3GNT6-L316ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1B3GNT6-L335ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1MS4A14-I56ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1MS4A14-N177Yhomozygous0.640Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
1MS4A14-G584Rhomozygous0.574Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
1EGFR-R521Khomozygous0.203Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ADA-D8Nhet unknown0.030Dominant
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, 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
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
1FOXN1-G406ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1FOXN1-A599Phet unknown0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ALX4-P102Shomozygous0.302Unknown
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
1ABCA9-K1306Thomozygous0.474Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.996 (probably damaging)
1ABCA9-N785Shomozygous0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.852 (probably damaging)
1ABCA9-R353Hhomozygous0.852Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF167-N494ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TNXB-R48PhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CPN2-Q509WhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1NPRL3-L489Shifthomozygous0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ATP7B-H1207Rhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
1ATP7B-V1140Ahet unknown0.585Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ATP7B-R952Khet unknown0.575Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ADRB2-E27Qhomozygous0.661Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
1C14orf104-D768Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1C14orf104-E62DhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1BDP1-D38Ehomozygous0.768Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1BDP1-R757Chomozygous0.278Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1BDP1-I1264Mhomozygous0.775Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1BDP1-V1347Mhomozygous0.805Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1BDP1-F1557Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1BDP1-Q1676Ehomozygous0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.937 (probably damaging)
1BDP1-I2013Lhomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZFYVE19-R48Shifthomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZFYVE19-S376Ahomozygous0.752Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
1CNGA1-S3FhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1MTRR-S202Lhet unknown0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1MTRR-S284Thet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1MTRR-R442Chet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1MTRR-P477Rhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GPHB5-F53Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1BRCA2-N372Hhet unknown0.237Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1BRCA2-D1420Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
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
1BRCA2-K3326*het unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Nonsense mutation, Testable gene in GeneTests with associated GeneReview
1GABRG2-I215VhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1GABRG2-G235Chet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1GRIN3B-R404Whomozygous0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.976 (probably damaging)
1GRIN3B-W414Rhomozygous0.737Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1GRIN3B-G466Shifthomozygous0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1GRIN3B-T577Mhomozygous0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
1GRIN3B-Q1006Ehet unknown0.680Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.051 (benign)
1GRIN3B-APAEAPPHS1028Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1VDR-M1Thomozygous0.676Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
1CLECL1-S52Shifthomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SEBOX-L207Shomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SEBOX-W10ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
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
1C12orf44-D85ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1GJB2-G12Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Frameshift, 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
1KRT4-Q230Rhet unknown0.294Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1KRT4-G160GAGGFGAGFGTGGFGhomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1KRT4-A146Vhet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1ELAC2-A541Thet unknown0.028Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.007 (benign), Testable gene in GeneTests
1ELAC2-S217Lhet unknown0.273Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.025 (benign), Testable gene in GeneTests
1PIK3R6-L609ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TMPRSS3-V53Ihet unknown0.081Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.36 (possibly damaging), Testable gene in GeneTests
1ATG9B-A765ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ATG9B-N493Shet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1TGFB1-R25Phet unknown0.049Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TGFB1-P10Lhet unknown0.648Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1DPYD-V732Ihet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.905 (probably damaging), Testable gene in GeneTests
1DPYD-I543Vhet unknown0.185Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1DPYD-R29Chomozygous0.714Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1NEFL-S472ShifthomozygousUnknown
benign
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1LHCGR-N312Shet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1LHCGR-Q18QLQhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1KLHL38-C504Yhomozygous0.082Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
1KLHL38-R346Khomozygous0.765Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1KLHL38-I334Vhomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
1KLHL38-H98Rhomozygous0.795Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.016 (benign)
1RAB3GAP1-I305VhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1HSH2D-S223Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PLEKHA2-P389Shifthomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1LAMC2-D247Ehet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.328 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1F5-I1231Lhet unknownUnknown
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
1C19orf55-G398ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1EPHX1-Y113Hhomozygous0.257Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
1EPHX1-N256Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1BC042039-K57ShifthomozygousUnknown
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
1ATP7A-V767Lhomozygous0.254Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ATP7A-E1350Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TCEAL6-Q175Shifthomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KCP-H313ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KCP-A16ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF761-L47ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF761-I122Shet unknown0.686Unknown
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
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
1PADI6-V343Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1HADHB-T2TThomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1DGKK-D1111Nhomozygous0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1DGKK-L1014ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.75COMT-A156Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.75COMT-V158Mhet unknown0.448Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75ANKK1-A239Thet unknown0.228Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.852 (probably damaging)
0.75ANKK1-G318Rhet unknown0.369Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.75ANKK1-G442Rhomozygous0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75ANKK1-H490Rhet unknown0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.75ANKK1-E713Khet unknown0.237Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CHRNA5-D398Nhet unknown0.249Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.75ITGAM-R77Hhet unknown0.105Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.048 (benign)
0.75ITGAM-A859Vhet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75ITGAM-P1147Shet unknown0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75BLMH-I443Vhet unknown0.285Unknown
pathogenic
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
0.75FUT6-R303Ghet unknown0.074Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.725 (possibly damaging)
0.75FUT6-P124Shet unknown0.421Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.614 (possibly damaging)
0.5KIAA0556-A1267Thomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIAA0556-E1426Khet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5CD19-L174Vhomozygous0.768Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NACA2-R197*het unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5NACA2-T174Rhet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.442 (possibly damaging)
0.5NACA2-V64Ihet unknown0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.017 (benign)
0.5NACA2-V9Fhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ABCC6-M848Vhomozygous0.962Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-H632Qhet unknown0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-V614Ahet unknown0.458Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABAT-Q56Rhomozygous0.514Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DSC2-R798Qhet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.433 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5OR2C1-C149Whomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OR2C1-F273Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AK311524-V28Ahomozygous0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AK311524-W181Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5LAMA3-N2815Khet unknown0.152Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LAMA3-S2834Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NOD2-V955Ihet unknown0.068Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5CARD8-Q356Rhet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.977 (probably damaging)
0.5CARD8-C10*homozygous0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5CCDC135-D51Nhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.927 (probably damaging)
0.5CCDC135-C186Shet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CCDC135-P433Lhet unknown0.236Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GPR56-S281Rhomozygous0.609Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR56-M487Thet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FAM83E-P311Lhet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5FAM83E-T91Ahet unknown0.343Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SALL1-V1275Ihomozygous0.988Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CETP-V422Ihomozygous0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DHDH-S66Nhomozygous0.380Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DHDH-A173Shifthet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5DHDH-Q233*het unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5DHDH-V247Ahet unknown0.329Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DHDH-G282Rhet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5DHDH-E294Shifthet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ETFB-T245Mhet unknown0.536Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ETFB-P94Shifthet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5WDR93-L66Hhet unknown0.462Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5WDR93-S254Thet unknown0.453Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5WDR93-F566Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5WDR93-D590Ehet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.937 (probably damaging)
0.5CYP1A1-I462Vhet unknown0.027Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.488 (possibly damaging)
0.5PTPRH-K823Ehomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTPRH-L543Fhet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5PTPRH-D232Nhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.972 (probably damaging)
0.5ALPK2-I2157Vhet unknown0.832Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALPK2-A1551Shomozygous0.411Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.092 (benign)
0.5ALPK2-P1449Shomozygous0.409Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.966 (probably damaging)
0.5ALPK2-H1174Phomozygous0.683Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.5ALPK2-L1057Vhomozygous0.684Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.293 (possibly damaging)
0.5ALPK2-EDTST1006Delhomozygous0.453Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALPK2-N916Khomozygous0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.992 (probably damaging)
0.5ALPK2-T891Ihomozygous0.845Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALPK2-K829Nhomozygous0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.923 (probably damaging)
0.5ALPK2-R825Thomozygous0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALPK2-G810Shomozygous0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.486 (possibly damaging)
0.5ALPK2-H719Qhomozygous0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.215 (possibly damaging)
0.5ALPK2-T397Ihet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.982 (probably damaging)
0.5ALPK2-R136Shet unknown0.453Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALPK2-K2Thomozygous0.840Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF236-S166Lhet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ZNF236-I613Vhomozygous0.945Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HEXA-I436Vhomozygous0.867Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5APH1B-F217Lhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.865 (probably damaging)
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)
0.5NR2E3-T318Shifthomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.5ATP8B1-A1152Thomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TM6SF1-P59Shet unknown0.072Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5AK054965-R105Phet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AK054965-R6Shifthet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PDE8A-L55Vhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5MPND-P423Lhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5DSG2-I293Vhet unknown0.063Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5ZNF57-S56Ahet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.937 (probably damaging)
0.5ZNF57-T223Nhomozygous0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.654 (possibly damaging)
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-T1660Ihet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5POLI-F532Shet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5POLI-A731Thomozygous0.781Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC28A1-V189Ihomozygous0.303Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC28A1-Q237Khet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC28A1-D521Nhet unknown0.360Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TAF1C-R722Hhet unknown0.047Unknown
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
0.5ERCC2-K751Qhet unknown0.319Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ERCC2-D312Nhomozygous0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.032 (benign), Testable gene in GeneTests with associated GeneReview
0.5MAN2B1-R337Qhomozygous0.373Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.027 (benign), Testable gene in GeneTests with associated GeneReview
0.5MAN2B1-T312Ihomozygous0.458Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.045 (benign), Testable gene in GeneTests with associated GeneReview
0.5MAN2B1-L278Vhet unknown0.321Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DHX58-N461Shet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5DHX58-Q425Rhet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NOTCH3-A2223Vhomozygous0.730Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ICAM1-R478Whet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.873 (probably damaging)
0.5JUP-M697Lhomozygous0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NPHS1-L392Phet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.698 (possibly damaging), Testable gene in GeneTests
0.5NPHS1-H320Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NPHS1-E117Khet unknown0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.5COG1-E453Qhet unknown0.065Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview
0.5KRT14-C63Yhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF101-H127Rhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5WNK4-T790Nhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.693 (possibly damaging), Testable gene in GeneTests
0.5EPX-C257*het unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5ABCA8-C1244Yhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5LRRC25-P294Shet unknown0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.992 (probably damaging)
0.5LRRC25-C285Yhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5COL1A1-T1075Ahomozygous0.971Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VPS13C-I3726Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5VPS13C-S2913Nhet unknown0.523Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VPS13C-R2482Hhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5VPS13C-N1955Hhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.025 (benign)
0.5VPS13C-R974Khet unknown0.670Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BRCA1-S1634Ghet unknown0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BRCA1-K1183Rhet unknown0.295Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BRCA1-E1038Ghet unknown0.278Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5BRCA1-P871Lhet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BRCA1-D693Nhet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.5B4GALNT2-A40Dhet unknown0.556Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5B4GALNT2-R183Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.975 (probably damaging)
0.5RFXANK-E48Dhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5DNAI2-A558Thomozygous0.767Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TSEN54-H38Qhet unknown0.139Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5TSEN54-K347Nhet unknown0.535Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.968 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5TSEN54-Q389Phet unknown0.072Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.053 (benign), Testable gene in GeneTests with associated GeneReview
0.5TSEN54-A437Vhet unknown0.659Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5ADAMTS10-H1101Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GAA-H199Rhomozygous0.673Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GAA-R223Hhomozygous0.673Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GAA-V780Ihomozygous0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYP2B6-R487Chet unknown0.088Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5BCKDHA-P39Hhet unknown0.097Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.5CYBA-V174Ahet unknown0.676Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CYBA-Y72Hhet unknown0.620Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ANKRD12-K906Rhomozygous0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.956 (probably damaging)
0.5ANKRD12-L998Shet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
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
0.5CYP2A7-V479Ghomozygous0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP2A7-T347Ahet unknown0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP2A7-R311Chet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5CYP2A7-S294Thet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CYP2A7-H274Rhomozygous0.797Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5CYP2A7-Q265Rhet unknown0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP2A7-M204Vhet unknown0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.991 (probably damaging)
0.5CYP2A7-D169Ehet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.46 (possibly damaging)
0.5CYP2A7-S153Ahet unknown0.478Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP2A7-C64Rhet unknown0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP2A7-F61Ihet unknown0.292Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRX-G1132Rhomozygous0.955Unknown
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
0.5SIPA1L3-I780Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SIPA1L3-R1217Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SIPA1L3-R1330Lhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.959 (probably damaging)
0.5SIPA1L3-R1468Qhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.815 (possibly damaging)
0.5SIPA1L3-A1561Phet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.5WDR62-N101Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5WDR62-L850Shet unknown0.673Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5WDR62-V1255Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5WDR62-Q1310Lhet unknown0.668Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5WDR62-L1390Fhomozygous0.749Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ST6GALNAC1-I424Vhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.221 (possibly damaging)
0.5ST6GALNAC1-V80Ahet unknown0.109Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KCNJ12-R43Hhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.181 (benign)
0.5KCNJ12-M71Ihet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5KCNJ12-I100Vhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KCNJ12-E139Khet unknown0.399Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5KCNJ12-T142Nhet unknown0.213Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.722 (possibly damaging)
0.5KCNJ12-G145Shet unknown0.425Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.5KCNJ12-D173Nhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.577 (possibly damaging)
0.5KCNJ12-A185Vhet unknown0.333Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.5KCNJ12-L211Fhet unknown0.366Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.109 (benign)
0.5KCNJ12-E239Khet unknown0.206Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KCNJ12-E289Qhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5KCNJ12-T290Mhet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.5KCNJ12-V297Ihet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.427 (possibly damaging)
0.5KCNJ12-M302Ihet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5KCNJ12-E334Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5KCNJ12-S343Lhet unknown0.252Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.041 (benign)
0.5KCNJ12-S371Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5KCNJ12-E378Khet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.314 (possibly damaging)
0.5KCNJ12-D402Ehet unknown0.379Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.013 (benign)
0.5KCNJ12-S405Ihet unknown0.402Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.101 (benign)
0.5NDUFS7-P23Lhomozygous0.538Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
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
0.5COX10-R159Qhomozygous0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPRED3-A43Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SPRED3-A272Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5JPH4-A502Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5FBN1-C472Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PTCHD3-*768Qhomozygous0.630Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-I584Mhomozygous0.960Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-M521Thomozygous0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-D473Ghomozygous0.630Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.849 (possibly damaging)
0.5PTCHD3-C407Ghet unknown0.419Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5PTCHD3-S309Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5KIAA1462-S1002Thet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.474 (possibly damaging)
0.5KIAA1462-R957Ghet unknown0.407Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.109 (benign)
0.5KIAA1462-E24Khet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5PPYR1-R240Chet unknown0.228Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.332 (possibly damaging)
0.5PPYR1-V276Mhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.889 (probably damaging)
0.5CHAT-V461Mhomozygous0.961Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CHAT-R741Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ERCC6-R1230Phet unknown0.070Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5ERCC6-G399Dhomozygous0.161Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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-P2575Rhet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-F2263Chet unknown0.007Unknown
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-P1559Shomozygous0.743Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P389Thet unknown0.588Unknown
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
0.5OPTN-K322Ehomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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-R1486Khet unknown0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview
0.5USH2A-A125Thet unknown0.719Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NFASC-T159Mhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.584 (possibly damaging)
0.5NFASC-R534Khet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.056 (benign)
0.5NFASC-I566Vhet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.912 (probably damaging)
0.5NFASC-I971Mhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LBR-S154Nhomozygous0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AGT-M268Thet unknown0.561Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AGT-T207Mhet unknown0.108Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.992 (probably damaging), 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
0.5MTR-N1222Shet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), 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
0.5PRKG1-N267Shet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5PRKG1-A341Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5UNC5B-I242Vhet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.97 (probably damaging)
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
0.5TRPM5-G900Shet unknown0.077Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TRPM5-R578Qhet unknown0.425Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5TRPM5-V335Lhet unknown0.084Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5TRPM5-V254Ahomozygous0.750Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TRPM5-N235Shet unknown0.463Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SBF2-Q1216Ehet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.03 (benign), Testable gene in GeneTests with associated GeneReview
0.5RASSF10-Q302Hhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ZBED5-S547Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZBED5-I480Vhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.494 (possibly damaging)
0.5ARMS2-R3Hhet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ADRB1-G389Rhomozygous0.681Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CDH23-N1349Dhomozygous0.813Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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-T1996Shet unknown0.414Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC29A3-R18Ghet unknown0.488Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-S158Fhomozygous0.618Unknown
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-I326Vhet unknown0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCC2-Y39Fhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCC2-V417Ihet unknown0.192Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5CALHM2-A96Thet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5COL17A1-M703Vhet unknown0.715Unknown
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-T210Mhet unknown0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CALHM1-L86Phomozygous0.798Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PHLDA3-R28Qhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.852 (probably damaging)
0.5CACNA1S-L458Hhet unknown0.273Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LDLRAP1-S202Phomozygous0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.803 (possibly 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
0.5POMGNT1-M623Vhomozygous0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GBP5-A119Vhet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.913 (probably damaging)
0.5TNNI3K-I787Thet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5GRHL3-D55Ehet unknown0.180Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5GRHL3-T454Mhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5OTUD3-A333Thet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5MTHFR-A222Vhet unknown0.272Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.858 (probably damaging), Testable gene in GeneTests
0.5ESPN-E159Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ESPN-R422Whet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ESPN-T429Ihet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5ESPN-R550Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRAMEF2-V67Ghet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRAMEF2-T72Rhet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.991 (probably damaging)
0.5PRAMEF2-L122Vhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging)
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
0.5CLCNKB-K578Ehet unknown0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CROCC-R7Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CROCC-P511Shet unknown0.310Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.94 (probably damaging)
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)
0.5SPATA21-K361KKhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SPATA21-V255Lhet unknown0.226Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SPATA21-P119Lhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5ABCA4-S2255Ihet unknown0.190Unknown
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-T897Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DBT-S384Ghomozygous0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FCRLB-T32Ihet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5IER5-V168Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5IER5-P285Shet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5SMG7-P674Hhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ASPM-L3132Phet unknownUnknown
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
0.5CFHR2-E199*het unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation
0.5FCGR3A-F212Vhomozygous0.285Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5USP21-P91Shet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.979 (probably damaging)
0.5COL11A1-P1335Lhet unknown0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-K276Nhet unknown0.080Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RTCD1-F349*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5RTCD1-V351Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5GSTM1-S210Thomozygous0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PTPN22-W620Rhomozygous0.934Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ETV3L-M318Vhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.761 (possibly damaging)
0.5ETV3L-G263Ahet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.759 (possibly damaging)
0.5RHBG-V143Dhet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RHBG-G315Rhomozygous0.458Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RHBG-P424Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5RHBG-H428Rhomozygous0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5INSC-D329Nhet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging)
0.5ABCC8-A1369Shomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR_028064-G139Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NR_028064-H49QhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_028064-H41Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TEP1-S1195Phomozygous0.618Unknown
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-K434Nhet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-K368Rhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-S116Phomozygous0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-S106Fhet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYH6-V1101Ahomozygous0.461Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DHRS4L1-R5Ghet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DHRS4L1-R122Shifthet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZNF274-V42Ihet unknown0.207Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.562 (possibly damaging)
0.5ZNF274-Q45Rhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5COL4A1-T555Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC10A2-S171Ahomozygous0.891Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC10A2-P142Lhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5SLC10A2-V98Ihet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.037 (benign)
0.5B3GALTL-E370Khomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.5CENPJ-M21Vhet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5FREM2-S745Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FREM2-F1070Shet unknown0.438Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FREM2-T2326Ihomozygous0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC25A15-I254Lhomozygous0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FARP1-H644Yhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
0.5FNDC3A-T1017Ahet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5PCK2-Q121Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCK2-W332*het unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation, Testable gene in GeneTests
0.5FANCM-V878Lhet unknown0.189Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCM-N1253Shet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5FANCM-I1460Vhet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.5FANCM-P1812Ahet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.958 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5SERPINA9-V348Ahet unknown0.719Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SERPINA9-R310Ihet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SERPINA9-H254Qhet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SERPINA9-P236Lhet unknown0.252Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SERPINA9-A42Vhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SERPINA9-P41Lhet unknown0.091Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OCA2-R419Qhet unknown0.057Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5TJP1-D1347Ahet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5TJP1-I790Vhet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.984 (probably damaging)
0.5DUOX2-S1067Lhomozygous0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DUOX2-P138Lhomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5STRC-Q84Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GALC-T641Ahomozygous0.959Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GALC-I562Thet unknown0.524Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.167 (benign), 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
0.5TSHR-E727Dhomozygous0.920Unknown
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
0.5SYNE2-L5186Mhet unknown0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SIX6-H141Nhomozygous0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.5RDH11-E79Khet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.978 (probably damaging)
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
0.5MLH3-P844Lhomozygous0.443Unknown
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
0.5DCAF4-S325Ghet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.962 (probably damaging)
0.5PARP4-A1656Phet unknown0.441Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PARP4-I1564Thomozygous0.931Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PARP4-L1550Phomozygous0.929Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PARP4-S1459Yhomozygous0.929Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PARP4-S1394Ahomozygous0.931Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PARP4-P1328Thet unknown0.407Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PARP4-G1280Rhet unknown0.407Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PARP4-G1265Ahet unknown0.408Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PARP4-R1108Chomozygous0.861Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PARP4-V1065Ahomozygous0.559Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PARP4-M936Thomozygous0.932Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PARP4-A899Thomozygous0.680Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PARP4-I81Vhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5KNTC1-H748Rhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.966 (probably damaging)
0.5YIF1A-P37Lhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5AIP-Q228Khomozygous0.832Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AIP-Q307Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IGHMBP2-L201Shomozygous0.777Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IGHMBP2-T671Ahomozygous0.246Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO7A-L16Shet unknown0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYO7A-G2214Shet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5C2CD3-R1832Ghet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.883 (probably damaging)
0.5C2CD3-G1831Whet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.125 (benign)
0.5C2CD3-Y1297Chet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5C2CD3-R1219Qhomozygous0.377Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MEN1-T546Ahomozygous0.908Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5METTL12-R38Whet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5ALKBH3-R164Chet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5ALKBH3-D228Ehet unknown0.201Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5SLC6A5-F124Shet unknown0.799Unknown
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
0.5PEX16-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
0.5ROM1-G118Ahomozygous0.938Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests
0.5MS4A13-G3Dhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5MS4A13-I7Vhomozygous0.947Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MS4A13-P58Lhet unknown0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TRPC6-A404Vhet unknown0.085Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.937 (probably damaging), 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
0.5KRT83-H493Yhomozygous0.751Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT6C-R326Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KRT6C-R182Qhomozygous0.402Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.805 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5VEZT-V496Ihet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.25 (possibly damaging)
0.5VEZT-G762Dhomozygous0.779Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HPD-T33Ahomozygous0.902Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HNF1A-I27Lhet unknown0.260Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HNF1A-S487Nhet unknown0.246Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HNF1A-S574Ghomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MLL2-S4010Phet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MLL2-R83Qhet unknown0.023Unknown
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
0.5OR10S1-V309Ahet unknown0.137Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.924 (probably damaging)
0.5OR10S1-Y190Hhet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5OR10S1-A112Vhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5OR10S1-K93Rhet unknown0.228Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.05 (benign)
0.5OR10S1-G63Shet unknown0.221Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5TMEM25-W25Chet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.986 (probably damaging)
0.5WNK1-T665Ihet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.5WNK1-M1808Ihomozygous0.432Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-Q852Rhomozygous0.924Unknown
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
0.5LRRK2-R50Hhomozygous0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-S1647Thet unknown0.258Unknown
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
0.5GYS2-M363Vhomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KLF1-F182Lhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.815 (possibly damaging)
0.5KLF1-S102Phet unknown0.265Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PARP15-R463Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5GRM6-A807Vhet unknown0.072Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.418 (possibly damaging), Testable gene in GeneTests
0.5ADAMTS2-P1177Shet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5ADAMTS2-R827Qhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.876 (probably damaging)
0.5ADAMTS2-V245Ihet unknown0.324Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5BC040901-C89Whet unknown0.706Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BC040901-P93Shet unknown0.548Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BC040901-A106Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NHLRC1-P111Lhet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5FLT4-R1324Lhet unknown0.090Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLT4-T494Ahet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.008 (benign), 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
0.5F12-A207Phomozygous0.976Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AX746964-G175Shifthet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AX746964-K166Ihet unknown0.628Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SPINK5-D106Nhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-Q267Rhet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-A335Vhet unknown0.440Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-S368Nhet unknown0.428Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-D386Nhet unknown0.226Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-K420Ehet unknown0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-R711Qhet unknown0.545Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-H1002Rhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC26A2-I574Thomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NSD1-V614Lhet unknown0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NSD1-S726Phet unknown0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.92 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5MSX2-M129Thomozygous0.753Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DCDC2-P152Ahet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
0.5ALDH5A1-G36Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALDH5A1-H180Yhet unknown0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALDH5A1-P182Lhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TULP1-K261Nhomozygous0.844Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TULP1-T67Rhomozygous0.905Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TRERF1-D1187Nhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5TRERF1-C834Shomozygous0.057Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.989 (probably damaging)
0.5TRERF1-N523Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
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
0.5PKHD1-Q4048Rhet unknown0.524Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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-R3842Lhet unknown0.018Unknown
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
0.5CUL7-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-Q158Hhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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-D89Shet unknown0.200Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-A70Vhet unknown0.246Unknown
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-F41Yhet unknown0.782Unknown
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-M24Ihet unknown0.197Unknown
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
0.5TNXB-G2518Ehet unknown0.685Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-R1255Hhet unknown0.089Unknown
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
0.5HLA-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
0.5HLA-H-D29Ahet unknown0.071Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-P32Qhet unknown0.060Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-E34Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-G109Shet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-R141Qhet unknown0.188Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-S182Whet unknown0.392Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-G217Ahet unknown0.074Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-C238Shet unknown0.729Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-L-H17Rhet unknown0.260Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-L-I30Vhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-L-R38Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5HLA-L-A142Vhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-L-W144*het unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5HLA-L-C172Yhet unknown0.253Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PSORS1C1-E34Khet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
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)
0.5MICA-R29Phet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5MICA-L145Vhet unknown0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-G198Shomozygous0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-T204Rhet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-I236Thet unknown0.466Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-R274Qhet unknown0.478Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-G318Shifthet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
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
0.5ZNF544-Q700Rhet unknown0.538Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5ZNF544-R708Whet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5YTHDC1-H183Rhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.882 (probably damaging)
0.5ATOH1-H237Qhet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.932 (probably damaging)
0.5ADH1B-H48Rhomozygous0.963Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CFI-T300Ahomozygous0.965Unknown
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
0.5EPHA5-N81Thet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.978 (probably damaging)
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
0.5CCDC50-L121Fhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.834 (possibly damaging), Testable gene in GeneTests
0.5CCDC50-I258Nhet unknown0.488Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CCDC50-K303Rhet unknown0.487Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CCDC50-M332Thet unknown0.573Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
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
0.5AK057553-R31Chet unknown0.278Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AK057553-C32Yhet unknown0.257Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AK057553-G38Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AK057553-A40Thet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AK057553-A46Ehet unknown0.177Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AK057553-G216Ehet unknown0.188Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AK057553-H218Rhet unknown0.057Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
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
0.5EVC-Y258Hhomozygous0.706Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5EVC-T372Mhet unknown0.065Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.5EVC-T449Khomozygous0.852Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EVC-R576Qhet unknown0.309Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.5LYAR-H265Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LYAR-D151Nhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.45 (possibly damaging)
0.5ANK2-P269Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ANK2-E3016Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ANK2-Y3768Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MFSD8-A423Vhet unknown0.072Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.177 (benign), Testable gene in GeneTests with associated GeneReview
0.5ERAP2-P214Lhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5ERAP2-K392Nhet unknown0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5WDR36-I264Vhomozygous0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5APC-V1822Dhomozygous0.826Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IL13-Q144Rhomozygous0.811Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PHAX-R82Chet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
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
0.5GPR98-L1093Fhet unknown0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-V1951Ihet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-N1985Dhet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-L2004Fhet unknown0.234Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.841 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-N2584Shet unknown0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-S2764Lhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-G3248Dhet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-E3471Khet unknown0.758Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-M3526Thet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E5344Ghomozygous0.937Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-V5427Mhomozygous0.972Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-V5876Ihet unknown0.432Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.94 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5TDO2-N229Hhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.851 (probably damaging)
0.5NR3C2-V180Ihomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AGA-T149Shomozygous0.923Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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-L2862Fhet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-I766Lhomozygous0.518Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.026 (benign), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-T488Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
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
0.5HEXB-L62Shomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HEXB-K121Rhet unknown0.199Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HEATR7B2-D1529Ghet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5HEATR7B2-L1179Phomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HEATR7B2-N918Khet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HEATR7B2-F890Lhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5HEATR7B2-R526Hhet unknown0.315Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.947 (probably damaging)
0.5HEATR7B2-V496Ihomozygous0.869Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HEATR7B2-E468Vhet unknown0.054Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.025 (benign)
0.5HEATR7B2-W191Rhomozygous0.845Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HEATR7B2-M11Vhet unknown0.329Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.129 (benign)
0.5LMBRD1-D469Ehomozygous0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
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
0.5PLEC-A3171Vhet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PLEC-R2969Hhomozygous0.307Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PLEC-S2791Phomozygous0.567Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PLEC-A2194Vhomozygous0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PLEC-H1459Rhomozygous0.566Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PLEC-A641Vhomozygous0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RECQL4-R1005Qhet unknown0.338Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RECQL4-R766Shifthomozygous0.278Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests with associated GeneReview
0.5RECQL4-E267Dhet unknown0.387Unknown
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
0.5CA9-R131Whet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5S1PR3-R243Qhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5TJP2-D482Ehet unknown0.756Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TJP2-M668Ihet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5JRK-L543Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5JRK-R499Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5JRK-G476Rhet unknown0.361Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5JRK-W463Shifthomozygous0.444Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5JRK-T30Mhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TG-S734Ahet unknown0.592Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-M1028Vhet unknown0.591Unknown
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-D1838Nhomozygous0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.061 (benign), 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
0.5CHRNA2-T125Ahomozygous0.580Unknown
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
0.5PCMTD1-R248Hhet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5PEX2-C184Rhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.5LRRCC1-H69Qhet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5LRRCC1-T210Ahet unknown0.180Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5ROR2-V819Ihomozygous0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ROR2-T245Ahet unknown0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCA1-K1587Rhet unknown0.582Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCA1-E1172Dhet unknown0.076Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCA1-R219Khet unknown0.393Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, 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
0.5ATRX-Q929Ehomozygous0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5F9-T194Ahomozygous0.233Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5XIAP-Q423Phomozygous0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.053 (benign), Testable gene in GeneTests with associated GeneReview
0.5ARSE-G424Shomozygous0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5CELP-T109Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CELP-K177Ehet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CELP-Q180*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5CELP-L184Phet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CDK5RAP2-V1540Lhet unknown0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-R1045Thet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-G1022Ehet unknown0.029Unknown
not reviewed
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
0.5DFNB31-H752Qhomozygous0.994Unknown
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
0.5CEP110-V56Ihomozygous0.569Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.013 (benign)
0.5CEP110-P216Lhet unknown0.347Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.996 (probably damaging)
0.5CEP110-L954Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5PTGS1-W8Rhomozygous0.947Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTGS1-P17Lhet unknown0.090Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CEL-ET713GAhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CEL-A715Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
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
0.5MCPH1-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
0.5ABCB8-R304Chet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ABCB8-G710Vhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5VWDE-F1485Chet unknown0.632Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-K1273Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5VWDE-Q1256Khet unknown0.492Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-C1050Yhet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-T1032Mhomozygous0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-G1009Rhet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-K964Nhet unknown0.494Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-C890Fhet unknown0.127Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-E869Khet unknown0.128Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-Y804Hhet unknown0.137Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-S607Fhomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-R385*het unknown0.132Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5VWDE-G340Dhomozygous0.750Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-F292Ihomozygous0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-S142Fhet unknown0.611Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VWDE-R39Hhet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH11-Q639Rhet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-S654Chet unknown0.123Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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-N2641Shet unknown0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-A3474Thomozygous0.350Unknown
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-M4172Vhomozygous0.718Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-K4508Rhet unknown0.072Unknown
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
0.5TXNDC3-C208Rhomozygous0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NPSR1-N107Ihet unknown0.489Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NPSR1-C197Fhet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5NPSR1-S241Rhet unknown0.229Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.019 (benign)
0.5PMS2-K541Ehomozygous0.874Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FBXL18-R54Hhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5ARMC2-T546Mhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5AIM1-C491Rhomozygous0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.091 (benign)
0.5AIM1-E1196Ahomozygous0.930Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0.5GPRC6A-S924Lhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5GPRC6A-Y775LPhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5GPRC6A-G773GRhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5GPRC6A-I599Thet unknown0.220Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GPRC6A-I144Rhet unknown0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.963 (probably damaging)
0.5GPRC6A-P91Shomozygous0.751Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5GPRC6A-R57*het unknown0.069Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5SYNE1-T8687Ihet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (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-K4121Rhet unknown0.784Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-K4121Rhet unknown0.784Unknown
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
0.5SYNE1-A2795Vhet unknown0.195Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-V1035Ahomozygous0.534Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.673 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5SLC22A2-S270Ahomozygous0.881Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SOD2-V16Ahomozygous0.476Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NR_024390-W43*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5NR_024390-A104Phet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5GLI3-T183Ahomozygous0.666Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LAMB4-R117Thet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (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
0.5KCNH2-K897Thet unknown0.169Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5ABP1-T16Mhet unknown0.346Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABP1-S332Fhet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5ABP1-T592Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABP1-H645Dhomozygous0.358Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.012 (benign)
0.5GPC2-A556Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5GPC2-D350Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CYP3A7-R409Thomozygous0.762Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RAMP3-W56Rhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging)
0.5CCM2-V53Ihet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview
0.5CCM2-D110Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CCM2-V120Ihet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5TNS3-S504Lhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging)
0.5DDC-M17Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ACN9-F53Lhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5POR-A503Vhet unknown0.234Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR_027127-W61*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5SCN5A-H558Rhet unknown0.246Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FERMT1-R526Khet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SALL4-I798Lhet unknown0.093Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5SALL4-A739Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PCK1-V184Lhomozygous0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCK1-I267Vhet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.167 (benign), Testable gene in GeneTests
0.5STX16-R148Qhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.622 (possibly damaging), Testable gene in GeneTests
0.5PANK2-G126Ahomozygous0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5C20orf54-P267Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5C20orf54-I74Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCA12-S777Thomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-R1767Qhomozygous0.420Unknown
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-P1251Lhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-R723Khomozygous0.827Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-G43Rhomozygous0.353Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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
0.5CASR-E1011Qhomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TTC3-M840Thet unknown0.557Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TTC3-R924Hhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5TTC3-D1751Hhet unknown0.616Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ITGB2-Q354Hhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.543 (possibly damaging), Testable gene in GeneTests
0.5CYP2D6-T486Shet unknown0.409Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP2D6-R329Lhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CYP2D6-C296Rhomozygous0.599Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP2D6-H94Rhet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CYP2D6-L91Mhet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CYP2D6-L47Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CYP2D6-R26Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SCO2-R20Phomozygous0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TMEM43-K168Nhomozygous0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.064 (benign), Testable gene in GeneTests with associated GeneReview
0.5TMEM43-M179Thomozygous0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5XPC-Q939Khomozygous0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TRIOBP-S217Nhomozygous0.544Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests
0.5TRIOBP-Q398Delhet unknown0.308Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TRIOBP-N863Khet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.5TRIOBP-F1187Lhet unknown0.347Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests
0.5TRIOBP-H1300Rhet unknown0.624Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.5TRIOBP-W1377Rhomozygous0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.084 (benign), Testable gene in GeneTests
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-V547Mhet unknown0.821Unknown
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-E224Ghet unknown0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL18A1-A288Thet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.017 (benign), Testable gene in GeneTests
0.5COL18A1-T379Mhet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.969 (probably damaging), Testable gene in GeneTests
0.5COL18A1-A1024Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL18A1-D1675Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRODH-R521Qhet unknown0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRODH-W185Rhomozygous0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRODH-P19Qhomozygous0.345Unknown
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
0.5KIAA1671-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)
0.5CPS1-T344Ahet unknown0.597Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5CPS1-T1406Nhomozygous0.329Unknown
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
0.5APLF-S224Thet unknown0.275Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5APLF-L336Fhet unknown0.104Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5APLF-R510Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5DYSF-E489Khet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EIF2AK3-A704Shomozygous0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EIF2AK3-Q166Rhet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MERTK-R293Hhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MERTK-R466Khet unknown0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MERTK-I518Vhet unknown0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCG8-Y54Chet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.01 (benign), Testable gene in GeneTests
0.5ABCG8-T400Khet unknown0.220Unknown
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
0.5CYP1B1-N453Shet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.837 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5CYP1B1-V432Lhet unknown0.445Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF446-P328Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging)
0.5LPIN1-P610Shet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.024 (benign), Testable gene in GeneTests
0.5OTOF-R1853Qhet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.155 (benign), Testable gene in GeneTests with associated GeneReview
0.5OTOF-R82Chet unknown0.365Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5ALK-D1529Ehet unknown0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, 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
0.5CFC1-W78Rhomozygous0.966Unknown
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
0.5LCT-V219Ihomozygous0.273Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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
0.5AOX1-N1135Shomozygous0.174Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CASP10-L522Ihomozygous0.439Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CASP8-K14Rhomozygous0.671Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TTN-R32018Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R29962Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-I26820Thet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-I25199Vhet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-T24045Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R22371Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-A19840Phomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-V19783Ihet unknown0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-T18827Ihet unknown0.312Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-P17286Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R16903Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-N16125Dhet unknown0.322Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-I9278Vhet unknown0.329Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-N7559Shet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S7181Nhet unknown0.155Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-A7111Ehet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-E6900Ahet unknown0.150Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-D6218Hhet unknown0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S3419Nhomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-V3261Mhomozygous0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-V2823Fhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S1295Lhomozygous0.950Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-K1201Ehomozygous0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-T811Ihet unknown0.186Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC25A12-R473Qhet unknown0.033Unknown
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-W3348Chet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-S2912Phet unknown0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-H1991Yhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-V1491Mhet unknown0.660Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-V1479Ihet unknown0.189Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-Y1301Hhet unknown0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-K1027Nhet unknown0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN2A-R19Khet unknown0.058Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.956 (probably damaging), Testable gene in GeneTests
0.5SCN1A-A1056Thomozygous0.724Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.5DEFB126-P106Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5RETNLB-L14Shifthet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5GBE1-I334Vhomozygous0.980Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTC21A-R1056Lhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TTC21A-R1317Khomozygous0.531Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DRD3-G9Shomozygous0.533Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CPOX-V294Ihet unknown0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.5CPOX-N272Hhet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.037 (benign), Testable gene in GeneTests
0.5NR_015394-T113Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ITIH3-T340Mhet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5ITIH3-D818Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5QARS-N285Shet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.375ATXN3-G306QQQQQRhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375ATXN3-G306QQQQQRhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375ATXN3-V212Mhet unknown0.276Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375LRRC50-K393Rhet unknown0.378Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.683 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.375LRRC50-D435Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375LRRC50-L659Vhet unknown0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.375COL6A3-P3082Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375COL6A3-T3069Ihet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375COL6A3-A3012Phet unknown0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375COL6A3-M2927Thet unknown0.700Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375LAMA2-R619Hhet unknown0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375LAMA2-R826Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375LAMA2-A2585Vhomozygous0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.375GLI2-A1156Shet unknown0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375GLI2-D1306Nhet unknown0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375GLI2-P1315Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375CHRNB1-E32Ghet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.288 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.375CHRNB1-I64Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375BBS9-A427Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375BBS9-A455Thet unknown0.173Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375UNC13D-K867Ehet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375UNC13D-T340Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375TH-E254Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375TH-V108Mhet unknown0.290Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC7A9-L223Mhet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.25SLC7A9-V142Ahet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25C8orf49-G26RhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C8orf49-I81Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C8orf49-V159Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C8orf49-C194*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25MYH15-T1125Ahet unknown0.242Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.007 (benign)
0.25MYH15-H504Yhomozygous0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.997 (probably damaging)
0.25MYH15-R454Qhet unknown0.220Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.25IDUA-H33Qhet unknown0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.25IDUA-R105Qhet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.023 (benign), Testable gene in GeneTests with associated GeneReview
0.25IDUA-A361Thet unknown0.171Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25IDUA-V454Ihet unknown0.110Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), 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
0.25NCF2-K181Rhet unknown0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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
0.25HMCN1-I2418Thomozygous0.525Unknown
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
0.25PRG4-R180Whet unknown0.299Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.25PRG4-T604Ahet unknown0.300Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NAT2-I114Thet unknown0.398Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NAT2-R268Khet unknown0.581Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SFTPC-T138Nhet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SFTPC-S186Nhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25C1orf99-T7Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C1orf99-P38Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CFTR-V470Mhet unknown0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DHODH-K7Qhet unknown0.542Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.25ERV3-N566Shomozygous0.918Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ERV3-N478Shomozygous0.925Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ERV3-R220*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ERV3-C189Yhet unknown0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ERV3-T87Ihomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NEUROD1-T45Ahet unknown0.672Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ABCB1-S893Ahet unknown0.683Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ANXA11-R230Chet unknown0.341Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.25LIPA-G23Rhet unknown0.148Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25UGT2B15-K523Thomozygous0.495Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25UGT2B15-Y85Dhet unknown0.508Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25STXBP2-I526Vhet unknown0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PLCE1-R1575Phet unknown0.476Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PCDH15-G385Shet unknown0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL1A2-P549Ahet unknown0.798Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FANCI-A86Vhet unknown0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FANCI-C742Shet unknown0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.25LRP2-I4210Lhet unknown0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.25LRP2-K4094Ehet unknown0.799Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25LRP2-G259Rhet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25LRP2-N83Shomozygous0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25PTF1A-S263Phet unknown0.507Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests
0.25PDGFRA-S478Phet unknown0.145Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25BBS4-I354Thet unknown0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NCRNA00115-Q163*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25NCRNA00115-V155Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NCRNA00115-P100LhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25RET-G691Shet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.16 (benign), Testable gene in GeneTests with associated GeneReview
0.25AK097289-V20Lhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25AK097289-L37Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25AK097289-V92Ihet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SULT1C4-D5Ehet unknown0.429Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RNASEL-D541Ehet unknown0.475Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PLD1-A622Shet unknown0.179Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ALPL-Y263Hhet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PINK1-N521Thet unknown0.269Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25C2orf84-C81*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25C2orf84-Y140Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25GCKR-L446Phet unknown0.679Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SEPN1-C108Yhet unknown0.788Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SEPN1-N467Khet unknown0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25STIL-H985Rhet unknown0.279Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.648 (possibly damaging), 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
0.25MCCC1-H464Phet unknown0.584Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KCNQ4-H455Qhet unknown0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.191 (benign), Testable gene in GeneTests with associated GeneReview
0.25KLK10-N276Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KLK10-S50Ahet unknown0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ALDH4A1-V470Ihet unknown0.111Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests
0.25ADAMTS13-Q448Ehet unknown0.297Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PTCHD2-G182Shomozygous0.502Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25PTCHD2-A650Thomozygous0.455Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PTCHD2-H1269Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ZNF417-N495Shet unknown0.273Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.25ZNF417-R173Hhet unknown0.345Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25ZNF417-E28*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25UMPS-G213Ahet unknown0.165Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25RNF207-N573Shet unknown0.452Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RNF207-G603Ahet unknown0.199Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.25ZNF543-P55Ahet unknown0.555Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.342 (possibly damaging)
0.25ZNF543-W68*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ZNF543-Q107Rhet unknown0.751Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZNF543-T230Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ZNF543-L246Hhet unknown0.751Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZNF543-M573Vhet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TNFRSF1B-M196Rhet unknown0.232Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.986 (probably damaging)
0.25KIAA0649-V98Ahet unknown0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KIAA0649-K206Ehet unknown0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KIAA0649-M434Thet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KIAA0649-N834Dhomozygous0.874Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KIAA0649-R1098Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25FPR1-E346Ahet unknown0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FPR1-Y257*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25FPR1-V101Lhet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HGD-Q80Hhet unknown0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TPO-A257Shet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TPO-A373Shet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25TPO-T725Phet unknown0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TPO-V847Ahet unknown0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25CPT2-V368Ihet unknown0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CPT2-M647Vhet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25ALG6-S306Fhet unknown0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25OPA1-S158Nhet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25MCEE-R104Lhet unknown0.189Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25MCEE-A76Vhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GBA-K144Rhet unknown0.619Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GBA-R140Whet unknown0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FLG-G332Vhet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25ALMS1-S524SPhet unknown0.578Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ALMS1-V671Ghet unknown0.881Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ALMS1-S2574Nhet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ALMS1-D2672Hhet unknown0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ALMS1-R4029Khet unknown0.540Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TMEM67-I604Vhet unknown0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FANCA-G809Dhet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FANCA-G501Shet unknown0.483Unknown
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
0.25LHX4-N328Shet unknown0.406Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FMO2-S195Lhet unknown0.384Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NBN-E185Qhet unknown0.285Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CASQ2-T66Ahet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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
0.25SIX5-V693Mhet unknown0.343Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.086 (benign), Testable gene in GeneTests with associated GeneReview
0.25SIX5-L556Vhet unknown0.871Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BAAT-R20Qhet unknown0.627Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.136 (benign), Testable gene in GeneTests
0.25TMEM160-G120Shet unknown0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.866 (probably damaging)
0.25LEPR-Q223Rhet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.484 (possibly damaging), Testable gene in GeneTests
0.25CD3EAP-K259Thet unknown0.179Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CD3EAP-K373Ehet unknown0.177Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CD3EAP-D394Nhet unknown0.171Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CD3EAP-K428Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CD3EAP-Q504Khet unknown0.259Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25SLC3A1-M618Ihet unknown0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25NGF-A35Vhet unknown0.370Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.123 (benign), Testable gene in GeneTests
0.25GPT-H14Nhet unknown0.382Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DOCK8-A22Vhet unknown0.317Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.009 (benign), Testable gene in GeneTests
0.25DOCK8-P97Thet unknown0.465Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests
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
0.25CPO-M85Ihet unknown0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.196 (benign), Testable gene in GeneTests
0.25CPO-S134Rhet unknown0.493Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25IRAK4-A428Thet unknown0.159Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25HAL-I600Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25HAL-V439Ihomozygous0.845Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PCNT-T539Ihet unknown0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.009 (benign), Testable gene in GeneTests
0.25PCNT-G704Ehet unknown0.894Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PCNT-T879Ahet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.707 (possibly damaging), Testable gene in GeneTests
0.25PCNT-V1038Ahet unknown0.883Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PCNT-R1163Chet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.25PCNT-I1639Vhet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PCNT-P2274Lhet unknown0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.25PCNT-Q2659Hhomozygous0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.849 (possibly damaging), Testable gene in GeneTests
0.25PCNT-Q2792Rhomozygous0.693Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.25PCNT-R3245Shet unknown0.168Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.657 (possibly damaging), Testable gene in GeneTests
0.25GLI1-C275Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25GLI1-G933Dhomozygous0.495Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.916 (probably damaging)
0.25GLI1-E1100Qhomozygous0.711Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MMAB-M239Khet unknown0.598Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MMAB-R19Qhet unknown0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MVK-S52Nhet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC6A19-V252Ihet unknown0.196Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TMIE-K131Delhet unknown0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TMIE-K131Delhet unknown0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CUEDC1-R383*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25CUEDC1-R169Hhet unknown0.131Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.25SH2B3-W262Rhet unknown0.634Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LRP1-Q2900Phomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LRP1-G4180Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25LRP1-D4193Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25COL6A1-R850Hhet unknown0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.25RNF39-A304Ehet unknown0.173Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RNF39-G263Chet unknown0.103Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RNF39-P260Ahet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25RNF39-S203Phet unknown0.176Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MANBA-V253Ihet unknown0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25FAM186A-A465Ghomozygous0.966Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FAM186A-K463Thomozygous0.974Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FAM186A-K187Qhomozygous0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FAM186A-L184Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25AXIN2-P50Shet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TBX4-A314Vhet unknown0.226Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.267 (possibly damaging), Testable gene in GeneTests
0.25SLC19A1-H27Rhet unknown0.504Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25BRIP1-S919Phet unknown0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL7A1-P595Lhet unknown0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MAPT-P202Lhet unknown0.165Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25MAPT-D285Nhet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview
0.25MAPT-V289Ahet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MAPT-R370Whet unknown0.156Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25MAPT-S447Phet unknown0.166Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SGCG-N287Shet unknown0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GHR-I544Lhet unknown0.435Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.25ARSA-T391Shet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TMCO3-Q229*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25TMCO3-A443Thet unknown0.199Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LRRC48-R191Whet unknown0.349Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LRRC48-L440Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25AP3B1-V585Ehet unknown0.932Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25COCH-T352Shet unknown0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25C14orf23-K115Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25C14orf23-K116Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25C14orf23-K116Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Frameshift
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
0.25MYO15A-A595Thet unknown0.338Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO15A-C1977Rhomozygous0.805Unknown
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
0.25F7-R391Qhet unknown0.109Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PNPLA3-I148Mhet unknown0.196Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.778 (possibly damaging)
0.25PNPLA3-K434Ehet unknown0.683Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25AMACR-E277Khet unknown0.756Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AMACR-L201Shet unknown0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AMACR-G175Dhet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AMACR-V9Mhet unknown0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TCOF1-A1353Vhet unknown0.214Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ITGA2B-I874Shet unknown0.380Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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)
0.25NIPBL-N674Shet unknown0.116Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.028 (benign), Testable gene in GeneTests with associated GeneReview
0.25SUCLA2-S199Thet unknown0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MTHFD1-K134Rhet unknown0.831Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MTHFD1-R653Qhet unknown0.376Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.25EP300-I997Vhet unknown0.207Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CTAGE10P-T359Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CTAGE10P-P675Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CTAGE10P-E682GhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CTAGE10P-S683NhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CTAGE10P-AT685VShomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CTAGE10P-T772Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CTAGE10P-R773Phet 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
0.25TRIM15-S324Nhet unknown0.181Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TTBK2-L8Phet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CTNS-T260Ihet unknown0.828Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC4A3-H157Phet unknown0.947Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SLC4A3-H157Phet unknown0.947Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SLC4A3-D867Ahomozygous0.674Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RAG1-H249Rhet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC35C1-I227Vhet unknown0.143Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25EYA4-G277Shet unknown0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25SLC22A16-M409Thet unknown0.179Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.25SLC22A16-V252Ahet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.609 (possibly damaging)
0.25SLC22A16-H49Rhet unknown0.271Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KCNQ2-N780Thet unknown0.597Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RSPH4A-L589Phet unknown0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MADD-V751Mhet unknown0.226Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25BDNF-V148Mhet unknown0.138Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SMYD4-Y727Chet unknown0.771Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SMYD4-R562Whet unknown0.350Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.2 (possibly damaging)
0.25SMYD4-A528Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SMYD4-P382Rhet unknown0.330Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.936 (probably damaging)
0.25SMYD4-R131Ihet unknown0.402Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.987 (probably damaging)
0.25HMHA1-L79Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25HMHA1-E259Dhomozygous0.805Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.02 (benign)
0.25GATM-Q110Hhet unknown0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ARSB-V376Mhet unknown0.136Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25SLC28A2-P22Lhet unknown0.474Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC28A2-S75Rhet unknown0.497Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25AHR-R554Khet unknown0.222Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25USH1C-E819Dhet unknown0.517Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RAX-D44Ehet unknown0.229Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25CD226-S307Ghet unknown0.451Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ATIC-T116Shet unknown0.248Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25WISP3-Q74Hhet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MPDU1-A229Thet unknown0.173Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL11A2-E276Khet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.651 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25FAM55B-V103Ahet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.871 (probably damaging)
0.25ACOX1-I312Mhet unknown0.505Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ACOX1-P27Lhet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25DSC3-R102Khet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DSC3-S78Thet unknown0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.314 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25SNX19-L878Rhet unknown0.809Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SNX19-N753Shet unknown0.633Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SNX19-L618Fhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SNX19-V361Lhet unknown0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ITGB4-L1779Phet unknown0.604Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLCO1B1-N130Dhet unknown0.528Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLCO1B1-V174Ahet unknown0.113Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLCO1B3-S112Ahet unknown0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLCO1B3-M233Ihet unknown0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.131 (benign)
0.25CDKN1B-V109Ghet unknown0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests
0.25SERPINA1-R125Hhet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25DLAT-A43Vhet unknown0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DLAT-V318Ahet unknown0.502Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DLAT-D451Nhet unknown0.280Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PEX6-P939Qhet unknown0.430Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MUT-I671Vhet unknown0.608Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MUT-R532Hhet unknown0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.25COL9A1-Q621Rhet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL9A1-S339Phet unknown0.479Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDAN1-R891Chet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25CDAN1-Q596Rhet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDAN1-Q107Lhet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25THBD-A473Vhet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KIAA1731-R208Qhomozygous0.942Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KIAA1731-A499Ehomozygous0.941Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25KIAA1731-S1683Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KIAA1731-E2437Vhomozygous0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.889 (probably damaging)
0.25MMP9-Q279Rhet unknown0.346Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MMP9-R574Phet unknown0.918Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ACAT1-A5Phet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.137 (benign), Testable gene in GeneTests
0MEFV-R202Qhet unknown0.178Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.019 (benign), Testable gene in GeneTests with associated GeneReview
0RAI1-Q1035Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0HPS1-M325Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0CREBBP-P1947Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0MBL2-G54Dhet unknown0.104Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests

Input file format: CGIVAR

Genome build: b37

Genome coverage: 2,764,077,777 bases (96.7% of callable positions, 89.7% of total positions)

Coding region coverage: 32,578,045 bases (97.9% of all genes, 98.7% 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