huF5E0B6 - GET-Evidence variant report

Variant report for huF5E0B6

Log file: 




VariantClinical
Importance
ImpactAllele
freq
Summary
1ABCA4-G863AHighWell-establishedWell-established pathogenic

Recessive, Carrier (Heterozygous)
0.00492657Various publications report this variant causes Stargardt Disease in a recessive manner, when combined with another more severe variant. Stargardt disease causes progressive vision loss and blindness.1
2SERPINA1-E288VLowWell-establishedWell-established pathogenic

Recessive, Carrier (Heterozygous)
0.0304889This variant represents the PiS variant in alpha-1-antitrypsin deficiency where a homozygous individual has 60% enzymatic activity. This variant alone is unlikely to much effect, but 3-4% of heterozygotes are compound heterozygous with the more severe PiZ variant, which is associated with an increased risk of emphysema and COPD.1
3MBL2-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
4rs5186LowLikelyLikely pathogenic

Unknown, Heterozygous
0.214878This common noncoding genetic variant has an allele frequency of ~30% and is associated with an increased risk of hypertension. If ~25% of non-carriers have hypertension, Bonnardeaux et al's data predict ~4% increased risk of hypertension per copy of this variant. This SNP is in the 3' noncoding region of the AGTR1 transcript (angiotensin II type 1 receptor), also known as AT2R1 or AT1R, which is a target of hypertension drugs.1
5TGIF1-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
6RNASEL-R462QLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.278026Associated with increased risk of prostate cancer in individuals who already have a family history of prostate cancer, but studies have been unable to replicate this finding in sporadic (non-familial) prostate cancer cases.1
7TLR5-R392XLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.0439673This variant is believed to impair the ability to generate an immune response to the flagella of the bacteria. It is weakly associated with an increased incidence of Legionnaires' Disease, p = 0.085, increased lifetime risk of disease ~0.88% (about twice average). The variant is also weakly associated with a reduced incidence of systemic lupus erythematosus, p = 0.165.1
8SP110-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
9TP53-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
10BRCA2-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
11ERCC6-R1213GLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.196877When homozygous, this variant may cause Cockayne Syndrome, which is a severe autosomal-recessive disorder characterized by abnormal early growth and development, abnormal sensitivity to sunlight, and premature aging. Cockayne Syndrome Type I and Type II lead to death in early childhood. Several other variants in the ERCC6 gene are linked to Cockayne Syndrome. This variant may also be linked to age-related macular degeneration like other ERCC6 variants, and has been linked to colorectal cancer in one study. 1
12ABCC6-R1268QLowUncertainUncertain pharmacogenetic

Unknown, Heterozygous
0.218907This common polymorphism appears to not have a significant phenotypic impact. A few studies report weak but significant associations with plasma lipids (in Inuits) and thalidomide toxicity.1
13rs1544410LowUncertainUncertain pharmacogenetic

Unknown, Heterozygous
0.351562rs1544410 is a Vitamin D Receptor (VDR) single nucleotide polymorphism. It is unlikely that it has functional significance because it is located in an intron (Liu et. al.), but it is in strong linkage disequilibrium with rs731236 (Dvornyk et al), which is located in an exon. 1
14FUT2-W154XModerateWell-establishedWell-established protective

Recessive, Carrier (Heterozygous)
0.490519This recessive protective variant confers resistance to norovirus (which causes stomach flu). 20% of Caucasians and Africans are homozygous for this variant and are "non-secretors": they do not express ABO blood type antigens in their saliva or mucosal surfaces. Most strains of norovirus bind to these antigens in the gut, and so this non-secretor status confers almost total resistantance to most types of norovirus. There are notable exceptions, some strains of norovirus bind a different target and are equally infectious for secretors and non-secretors.1
15PRNP-M129VLowWell-establishedWell-established protective

Complex/Other, Heterozygous
0.339561This variant is associated with some protective effects for prion disease -- individuals homozygous for this variant are less susceptible to Creutzfeldt-Jakob, and Papua New Guinea individuals heterozygotes at this site are less susceptible to kuru. 1
16NPC1-H215RLowLikelyLikely protective

Complex/Other, Heterozygous
0.295687This variant is associated with a reduced risk of obesity, with an additive effect of -0.084 BMI per allele (an average of 0.54 pounds less, per allele, in a 5'6" individual). 1
17KCNJ11-K23ELowLikelyLikely protective

Unknown, Heterozygous
0.738148This variant is associated with decreased risk of type 2 diabetes. It is unclear whether this variant has additive effects, or acts in a dominant or recessive manner. Assuming diabetes has a lifetime risk of 36%, we estimate a decreased risk of around 1-2% per copy of this variant.1
18TOR1A-D216HLowLikelyLikely protective

Unknown, Heterozygous
0.102993This SNP has been shown to be benign and play a protective role against Dystonia. 1
19TYR-R402QLowWell-establishedWell-established benign

Complex/Other, Heterozygous
0.204964This is a frequent pigmentation polymorphism in Europeans that affects function of the Tyrosinase gene. It is associated with blue instead of green eyes and sun sensitivity. For the most part this variant is benign, but many individuals with ocular albinism (which affects only the eyes) carry this variant along with another more severe variant in the same gene.1
20ADA-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
21RYR2-G1885ELowLikelyLikely benign

Recessive, Carrier (Heterozygous)
0.0179176Hypothesized to cause arrhythmogenic right ventricular cardiomyopathy when compound heterozygous with G1886S. However, this variant is quite common (2.4% in Europeans), as is G1886S (3.1% in Europeans), and about 1 in 700 are compound heterozygous. This is highly discordant with a disease prevalence of 1 in 2500 to 5000, and notably G1886S is reported in ClinVar as benign. We should consider the original hypothesis disproven.1
22PKD1-A4059VLowLikelyLikely benign

Unknown, Heterozygous
0.0570413Probably benign.1
23FLT4-N149DLowLikelyLikely benign

Unknown, Heterozygous
0.0725056Other severe variants in this gene are implicated in causing Milroy Disease (primary lymphedema) in a recessive manner. Although this variant is rare (2.3% allele frequency), it is still common enough that it is highly unlikely to have a severe, high penetrance pathogenic effect.1
24CACNA1S-L458HLowLikelyLikely benign

Unknown, Heterozygous
0.27282Common polymorphism1
25LOXL1-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
26FAH-R341WLowUncertainUncertain benign

Recessive, Carrier (Heterozygous)
0.0172895This variant shows pseudodeficiency for production of FAH protein which is connected with hereditary tyrosinemia type I. Pseudodeficiency was confirmed with site-directed mutagenesis and expression in a rabbit reticulocyte lysate system. The allelic frequency in 516 Norwegian controls was 0.022. 1
27ABCC11-G180RLowUncertainUncertain benign

Unknown, Heterozygous
0.0976947This variant is associated with dry type ear wax (a benign trait) in a recessive manner.1
28GALT-N314DLowUncertainUncertain benign

Unknown, Heterozygous
0.0716676This variant has an allele frequency of ~8% and is ancestral to "Duarte" / "Duarte 2" and "Duarte 1"/"Los Angeles" galactosemia variants. This variant is evolutionarily ancestral, and in vitro studies fail to support an impact of this variant on enzyme activity. Carney et al. instead implicate a 4 base deletion on the 5' of the GALT gene as being causal and linked to this variant. Galactosemia is typically screened and detected in infants and causes early, severe but nonspecific symptoms (digestive problems, lethargy, failure to thrive).1
29APOB-Y1422CLowUncertainUncertain benign

Unknown, Homozygous
0.999628This position is almost certainly an error in the HG18 reference sequence. 1
30TYR-S192YLowUncertainUncertain benign

Unknown, Heterozygous
0.270682This variant is reported to affect skin pigmentation. It is associated with lighter skin in South Asians (OR 4-5) and with a lack of freckles in Europeans (OR 1.3).1
31COL7A1-P1277LLowUncertainUncertain benign

Unknown, Heterozygous
0.0407139Polymorphism, presumed benign.1
32GUCY2D-A52SLowUncertainUncertain benign

Recessive, Carrier (Heterozygous)
0.21016One publication suggested that this variant possibly causes Leber's congenital amaurosis in a recessive manner, but the frequency data (36% in 1000 genomes) contradicts any significant pathogenic effect.1
33ABCA4-R943QLowUncertainUncertain benign

Unknown, Heterozygous
0.0316044This is a polymorphism in a gene associated with Stargardt disease. Although it has a slight detectable effect in functional study, it is common in control groups and is not believed to have any significant pathogenic effect.1
34PKP2-L366PLowUncertainUncertain benign

Unknown, Heterozygous
0.221231This variant is a benign polymorphism. 1
35SLC45A2-L374FLowUncertainUncertain benign

Unknown, Homozygous
0.691764Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma.1
36PCSK9-G670ELowUncertainUncertain benign

Unknown, Heterozygous
0.888269This variant is likely benign. 1
37TCIRG1-R56WLowUncertainUncertain benign

Unknown, Heterozygous
0.0441778Probably benign. One publication implicates the variant in causing osteopetrosis, but this is contradicted by the relatively high allele frequency for the variant in Caucasians (5%, 1 in 400 homozygous) while that disease is extremely rare (1 in 250,000).1
38RP1-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
VariantPrioritization scoreAllele
freq
Num of
articles
Zygosity and Prioritization Score Reasons

Exome coverage: 32947887 / 33282720 = 98.99%

GeneChromosomeCoverageMissingLengthMissing regions
1AGRN10.951449983708052986138955553-955554, 955566-955653, 955665-955668, 976240-976241, 977056-977082, 981928-981929, 981931, 981993-981999, 982229-982240, 983421, 983594-983745
2GABRD10.956585724797655913591950863-1950902, 1950906-1950924
3ESPN10.9520467836257312325656488378-6488384, 6488426-6488432, 6500403, 6500712, 6500731, 6500735-6500737, 6500758-6500761, 6500831-6500868, 6501062, 6505726-6505732, 6505848-6505861, 6505867, 6505914-6505937, 6508760-6508766, 6512127-6512133
4PLEKHG510.980244590780816331896534116, 6534520-6534579, 6557382-6557383
5TARDBP10.9614457831325348124511082322-11082362, 11082396-11082402
6CLCNKA10.9898255813953521206416354391-16354397, 16358268-16358274, 16360141-16360147
7ATP13A210.99915325994923354317313604, 17313607, 17313613
8PINK110.994845360824749174620960311-20960319
9HSPG210.99514268366727641317622181420, 22263648-22263710
10WNT410.9270833333333377105622469339-22469415
11SEPN110.89028776978417183166826126722-26126904
12KCNQ410.9856321839080530208841249766-41249795
13DHCR2410.994842037395238155155352599-55352606
14ACADM10.98122065727724127876228425-76228448
15RPL510.99776286353468289493307411-93307412
16DPYD10.9931773879142321307897847949-97847951, 97848011, 97848014-97848016, 98060721, 98144695-98144699, 98144709-98144711, 98144722-98144725, 98348928
17AGL10.99652098282235164599100378024-100378039
18COL11A110.97489463074951375457103364222-103364313, 103364322-103364329, 103364497-103364511, 103427775, 103435797-103435805, 103435812-103435823
19GSTM110.9391171993911740657110231688-110231727
20NOTCH210.973840345199571947416120539665-120539714, 120539742, 120539778-120539784, 120539913-120539939, 120547962-120547968, 120548022-120548058, 120548091-120548097, 120572544-120572575, 120572609-120572610, 120611957-120611969, 120612000-120612010
21PRPF310.99317738791423142052150305219-150305232
22FLG10.9405054981125972512186152276114, 152276149, 152276254-152276301, 152276365-152276389, 152276456-152276493, 152276580-152276631, 152276668-152276674, 152276696-152276729, 152276757-152276785, 152276852-152276892, 152276904-152276910, 152277014, 152277021, 152277027, 152277035, 152277044, 152277055, 152277081-152277088, 152277517-152277557, 152277713-152277720, 152277822, 152278047-152278049, 152278303-152278309, 152278431-152278437, 152278689, 152278811-152278817, 152279016-152279022, 152279275-152279281, 152279406, 152279473-152279479, 152279848, 152280347, 152280372, 152280468-152280474, 152280570-152280617, 152280643-152280652, 152280682-152280694, 152280733-152280762, 152280782, 152280788, 152280900, 152281225-152281231, 152281519-152281537, 152281621-152281649, 152283427-152283470, 152284119-152284155, 152284200-152284217, 152284421-152284453, 152284546-152284552, 152284803-152284817, 152285137, 152285185-152285191
23CHRNB210.997349237905941509154544373-154544376
24GBA10.97827436374922351611155204994, 155205008, 155205040-155205046, 155205518, 155207985-155208009
25MPZ10.990990990990997777161276183-161276189
26TBX1910.9970304380103941347168274314, 168274321-168274323
27F510.99280898876404486675169510290-169510296, 169510367, 169510380, 169510502, 169510515, 169510524, 169510634-169510640, 169511596-169511624
28LAMC210.9994416527079823582183155508, 183155518
29PDC10.9811066126855614741186418566-186418576, 186418579, 186418590-186418591
30CFH10.98484848484848563696196654194-196654202, 196658702-196658731, 196706691, 196706732-196706733, 196715005-196715011, 196716389-196716395
31CFHR110.997985901309162993196801042, 196801078
32CFHR510.98947368421053181710196953111-196953113, 196953128-196953130, 196953134-196953144, 196953153
33ASPM10.998370711136671710434197069670-197069671, 197069694-197069707, 197069723
34RD310.998299319727891588211654720
35USH2A10.999167147158691315609215916521, 215916552-215916555, 215916563-215916566, 216496816-216496818, 216496899
36GJC210.94469696969697731320228345574, 228345609-228345616, 228345638, 228345643-228345649, 228346030, 228346345, 228346356-228346361, 228346364-228346366, 228346378, 228346398, 228346475, 228346580-228346614, 228346638-228346644
37LYST10.998597229528321611406235875462, 235875492, 235944236-235944238, 235944318-235944319, 235950532, 235950540, 235950543, 235967944-235967947, 235967965, 235973705
38RYR210.99986580783682214904237821248-237821249
39FH10.9954337899543471533241661132, 241661135-241661138, 241661141-241661142
40NLRP310.99357119897139203111247587314-247587333
41CUBN100.9997240618101531087217142040-17142042
42PTF1A100.99797365754813298723481750, 23481942
43PDSS1100.9791666666666726124826994215-26994240
44RET100.9880418535127140334543572718-43572724, 43572736-43572768
45ERCC6100.999776885319051448250708702
46CHAT100.90654205607477210224750822254-50822463
47PCDH15100.999830191883171588955616993
48PRF1100.997002398081535166872358700-72358704
49CDH23100.9995027844073251005673462366, 73567281, 73567291-73567293
50GLUD1100.995825879546817167788836362-88836368
51PLCE1100.9982631350412512690996076379-96076390
52ABCC2100.99655023717119164638101558975-101558990
53HPS6100.999570446735412328103826692
54SUFU100.9986254295532621455104263974, 104263977
55HTRA1100.95980595980596581443124221169-124221211, 124221218, 124221260, 124221276, 124221293-124221294, 124221298, 124221332-124221334, 124221343, 124221354, 124221380-124221383
56SLC25A22110.9804526748971219972792633-792640, 792649-792657, 792675-792676
57PNPLA2110.99207920792079121515819719-819723, 819852-819858
58CTSD110.99919289749798112391785080
59TH110.9968253968254515752191949, 2191956-2191957, 2191960, 2191993
60CDKN1C110.763406940063092259512905945-2905969, 2905973, 2906067, 2906070-2906112, 2906115, 2906119-2906123, 2906133-2906178, 2906194-2906262, 2906273-2906279, 2906409-2906431, 2906459-2906460, 2906463, 2906466
61HBD110.9842342342342374445255652-5255658
62SMPD1110.99683544303797618966411931-6411936
63SBF2110.998558558558568555010014042-10014049
64USH1C110.998888888888893270017531129-17531131
65ANO5110.976294675419465274222276925, 22277002-22277003, 22277005-22277010, 22277013-22277068
66SLC35C1110.998106060606062105645827804-45827805
67MADD110.9957524271844721494447330899-47330914, 47331115-47331119
68BEST1110.9897610921501718175861725740-61725757
69AIP110.99496475327291599367257561-67257565
70LRP5110.9969059405940615484868080189-68080193, 68080200-68080201, 68080217-68080222, 68080238, 68080242
71IGHMBP2110.991616364855825298268704532-68704556
72DHCR7110.999299719887961142871146659
73MYO7A110.99984957882071664876922282
74DYNC2H1110.992661259173439512945102984270, 103029456, 103029524, 103043811-103043846, 103043914-103043920, 103043929, 103049839, 103059226-103059227, 103059286, 103059290-103059299, 103059308-103059311, 103062249, 103062931, 103082518-103082520, 103082529-103082534, 103082543, 103082558, 103082625-103082627, 103349965-103349978
75ATM110.99007741794788919171108099949-108099956, 108126979-108127000, 108127009-108127067, 108196206, 108196210
76DLAT110.99279835390947141944111909973-111909980, 111909989, 111909992-111909996
77ROBO3110.9990386926219744161124750436-124750439
78WNK1120.9995803608896337149998306-998308
79CACNA1C120.99893308946807765612794934-2794940
80VWF120.983179341388314284426122706-6122712, 6125301-6125307, 6125338-6125375, 6125725-6125730, 6127655-6127661, 6128449-6128451, 6128784-6128790, 6131925-6131932, 6131955-6131982, 6132003-6132033
81TNFRSF1A120.99926900584795113686438613
82ATN1120.982927511894776135737045599-7045600, 7045603-7045604, 7045607-7045608, 7045888-7045942
83GYS2120.9867424242424228211221712030-21712057
84ABCC9120.998709677419356465022025633-22025635, 22063806, 22063828-22063829
85DNM1L120.998643147896883221132875361-32875362, 32883948
86KIF21A120.998997192137995498639709039, 39719683, 39719689-39719691
87LRRK2120.9880010548523291758440699641, 40699662, 40761454-40761488, 40761503-40761556
88IRAK4120.999276934201011138344166738
89VDR120.997663551401873128448251306-48251308
90MLL2120.9995184783917281661449427265, 49427272, 49427291-49427292, 49427296-49427297, 49427685, 49431319
91TUBA1A120.892543859649124945649522195-49522241, 49522578, 49522605
92ACVRL1120.998015873015873151252307516-52307518
93KRT81120.998682476943352151852684881-52684882
94KRT86120.9890485968514716146152695851-52695857, 52696068-52696069, 52699030-52699036
95KRT6B120.9469026548672690169552841338-52841344, 52843578-52843584, 52844243, 52844246, 52844265, 52844380-52844395, 52845528-52845544, 52845598-52845604, 52845662-52845686, 52845713-52845719, 52845801
96KRT6C120.91740412979351140169552864945-52864973, 52865903, 52865906, 52865918, 52865925, 52866040-52866055, 52867056-52867069, 52867091-52867108, 52867186-52867203, 52867257-52867263, 52867321-52867346, 52867456-52867463
97KRT6A120.9581120943952871169552881511, 52881519, 52881868-52881874, 52882264-52882270, 52886553-52886559, 52886638-52886644, 52886708-52886714, 52886772-52886797, 52886907-52886914
98KRT1120.998966408268732193553072516-53072517
99KIF5A120.998709261051954309957965106-57965109
100LEMD3120.9923245614035121273665612359-65612361, 65612365, 65612379-65612394, 65632547
101CEP290120.98602150537634104744088462299-88462300, 88462334-88462372, 88472908, 88481641-88481644, 88487547-88487549, 88490732-88490759, 88505626-88505629, 88512305-88512306, 88513971, 88513997, 88514026-88514027, 88519023-88519029, 88519117, 88519130, 88519134, 88519137-88519142, 88522723
102MMAB120.994687915006644753109999612-109999613, 110011229-110011230
103ATXN2120.98198883815322713942112036619, 112036750, 112036752-112036782, 112036785, 112036788, 112036794, 112036797, 112036803, 112036806, 112036929, 112036934, 112036938, 112036948-112036951, 112036954-112036959, 112036962-112036964, 112037000, 112037036-112037048, 112037223-112037224
104TBX3120.9964157706093282232115114165-115114172
105HPD120.9949238578680261182122295706-122295711
106ATP6V0A2120.9992220925709822571124242474-124242475
107SACS130.9996360989810851374023912873-23912874, 23912886-23912888
108B3GALTL130.995991983967946149731774260-31774265
109BRCA2130.99844008969484161025732932023-32932026, 32936818-32936829
110RB1130.998205956225335278749051518, 49051522-49051525
111ZIC2130.912445278298941401599100634390-100634392, 100634395, 100634398-100634404, 100637699-100637747, 100637768-100637816, 100637830-100637856, 100637880, 100637883-100637884, 100637902
112PCCA130.99405578417924132187100741456, 100909911-100909922
113GRK1130.9982269503546131692114426073-114426075
114TEP1140.999112125824457788420848514-20848520
115PABPN1140.9142236699247992123790690, 23790702, 23790844-23790877, 23790890, 23790896-23790898, 23790904-23790911, 23790922-23790929, 23790948-23790950, 23790960-23790965, 23790980-23790983, 23790989-23790997, 23791013
116MYH6140.999828178694161582023871944
117PCK2140.997399895995845192324572420-24572424
118FOXG1140.77959183673469324147029236557-29236594, 29236620-29236621, 29236626, 29236647, 29236650-29236653, 29236674, 29236688-29236964
119NKX2-1140.996683250414594120636986839-36986840, 36986843-36986844
120FANCM140.9946315275744333614745618128-45618140, 45623998, 45624001-45624002, 45624012-45624025, 45667847-45667848, 45668074
121C14orf104140.999602227525861251450100990
122SIX6140.98920377867746874160976368-60976375
123SYNE2140.999565720903392072464457764, 64556348, 64556403, 64556407-64556412
124ZFYVE26140.99986876640421762068244319
125ESRRB140.998690242305172152776964699, 76964704
126POMT2140.999556147359081225377786969
127GALC140.99805636540334205888417086-88417088, 88434718
128SPATA7140.997777777777784180088859817-88859818, 88859821-88859822
129ATXN3140.9889502762430912108692537354, 92537379, 92537386-92537390, 92559598, 92559658-92559661
130VRK1140.999160369437451119197304132
131AMN140.999265785609411362103396611
132INF2140.930133333333332623750105173753, 105173764, 105173772-105173780, 105173863-105173874, 105173880, 105173884-105173896, 105173906-105174125, 105174146-105174149, 105174177
133NIPA1150.8202020202020217899023086234-23086411
134UBE3A150.9946727549467314262825616251-25616257, 25616620-25616626
135SPRED1150.996254681647945133538614490-38614494
136CHST14150.9655172413793139113140763457-40763483, 40763500-40763511
137TTBK2150.999732262382861373543069296
138STRC150.9883633633633662532843897534-43897560, 43902589-43902616, 43903129, 43910867-43910872
139SLC12A1150.9842424242424252330048527124-48527166, 48577377, 48577381-48577388
140FBN1150.999303621169926861648784724-48784727, 48784770, 48789520
141CEP152150.9979859013091610496549036458, 49044650-49044653, 49044660, 49044663-49044666
142HCN4150.9919712070874929361273616168, 73659860-73659865, 73660089-73660095, 73660116-73660117, 73660123-73660124, 73660161-73660167, 73660367, 73660372-73660374
143POLG150.997580645161299372089876828-89876836
144MESP2150.9773869346733727119490320122-90320146, 90320149, 90320161
145BLM150.9969440526563213425491337524-91337525, 91337531-91337533, 91337536-91337540, 91337545, 91337586-91337587
146VPS33B150.998921251348442185491542262, 91542265
147IGF1R150.99902534113064410499467806-99467809
148HBZ160.9976689976691429204003
149CLCN7160.99958643507031124181524889
150GFER160.98220064724919116182034285-2034287, 2034308, 2034335-2034338, 2034343, 2034347, 2034364
151PKD1160.92541821561338963129122140965, 2140974-2140981, 2140985-2140988, 2149669-2149675, 2149862-2149879, 2149962-2149972, 2150059, 2150068-2150071, 2150245-2150284, 2152129, 2152168-2152174, 2152552-2152573, 2152965-2152971, 2153477-2153505, 2153711-2153741, 2153820-2153826, 2154570-2154576, 2154637-2154643, 2155875-2155923, 2155984, 2156192-2156198, 2156241-2156247, 2156427-2156450, 2156607-2156613, 2156806-2156816, 2156899-2156941, 2158746-2158752, 2159252, 2159402-2159408, 2159520, 2159993-2159999, 2160134-2160140, 2160683-2160732, 2161429-2161436, 2161601-2161607, 2162431-2162437, 2163162-2163185, 2164208-2164214, 2164351-2164377, 2164403-2164409, 2164443-2164466, 2164487-2164493, 2164532-2164569, 2164804-2164819, 2166564-2166595, 2166915-2166954, 2167545-2167568, 2167591-2167597, 2167871-2167877, 2167925-2167935, 2167969-2168000, 2168056-2168075, 2168164-2168170, 2168209-2168237, 2168254-2168296, 2169115-2169136, 2185552-2185598, 2185662-2185690
152CREBBP160.99972711147496273293777796-3777797
153ALG1160.94265232974918013955127468-5127475, 5130959-5130999, 5131022-5131052
154ABCC6160.9913563829787239451216313679-16313685, 16315576-16315593, 16315647-16315652, 16315663-16315665, 16315668, 16315671-16315674
155OTOA160.9938596491228121342021742176-21742182, 21756233-21756239, 21768439-21768445
156OTOA160.98594377510041499622572356-22572362, 22584579-22584585
157PALB2160.999719180005621356123647546
158PHKG2160.9221949221949295122130760142-30760236
159FUS160.9715370018975345158131195580-31195595, 31195689-31195717
160SLC5A2160.998018821198614201931500065-31500068
161SALL1160.9964779874213814397551175652, 51175656-51175668
162RPGRIP1L160.9964539007092214394853679756-53679769
163HSD11B2160.9917898193760310121867465204, 67465210, 67465214, 67465230-67465231, 67469982-67469985, 67469998
164CDH3160.998393574297194249068679552-68679555
165HP160.9713349713349735122172092153-72092165, 72092227-72092237, 72093017, 72093029-72093030, 72093033, 72094443-72094449
166MLYCD160.9851551956815122148283932880, 83932884-83932888, 83932893, 83932984, 83932988-83932992, 83932997-83933003, 83933085, 83933143
167LRRC50160.997245179063366217884199473-84199477, 84199488
168FOXF1160.9798245614035123114086544212, 86544216-86544218, 86544222-86544227, 86545065-86545077
169JPH3160.996439697374288224787723684-87723691
170CYBA160.99829931972789158888709828
171APRT160.99815837937385154388878252
172GALNS160.99617590822186156988923226-88923229, 88923234, 88923238
173SPG7160.997487437185936238889579413-89579416, 89579419-89579420
174FANCA160.999771062271061436889842213
175TUBB3160.9874353288987417135390001852-90001866, 90002189-90002190
176ASPA170.9925690021231479423402361-3402367
177GP1BA170.99947916666667119204837229
178GUCY2D170.99849033816425533127906381-7906385
179ALOX12B170.99952516619183121067984447
180HES7170.97492625368732176788025001, 8025004-8025008, 8025695-8025696, 8025723-8025731
181ELAC2170.996372430471589248112896189-12896197
182COX10170.994744744744747133214095345-14095351
183RAI1170.9979024646040912572117697099-17697105, 17697114, 17697123-17697126
184MYO15A170.99754554894742261059318024013-18024029, 18024035-18024036, 18024266, 18024410, 18049333-18049337
185UNC119170.99170124481328672326879462-26879465, 26879476-26879477
186NF1170.996244131455432852029422328-29422343, 29422369, 29422376-29422380, 29586057, 29586068-29586072, 29586078, 29586081, 29586094, 29663383
187KRT10170.99772079772084175538975328, 38978766-38978768
188KRT9170.996260683760687187239723801-39723807
189KRT14170.91895701198027115141939741304-39741309, 39742627-39742648, 39742829-39742872, 39742894, 39742995-39743036
190KRT16170.950773558368570142239766265-39766281, 39768412-39768418, 39768490-39768496, 39768658-39768664, 39768740-39768771
191KRT17170.973826020015434129939780414-39780440, 39780670-39780676
192STAT5B170.9928087986463617236440371368-40371383, 40384078
193WNK4170.99892818863884373240947095-40947098
194SOST170.99844236760125164241832923
195WNT3170.999063670411991106844851188
196TRIM37170.999654576856651289557168667
197ACE170.9971945932160211392161554485-61554492, 61554507-61554508, 61554556
198SOX9170.994771241830078153070120223-70120230
199TSEN54170.996204933586346158173518388-73518393
200UNC13D170.998472349526435327373836107-73836111
201SEPT9170.92277115275412136176175494605-75494740
202SGSH170.99734923790594150978188884-78188887
203AFG3L2180.999164578111952239412377080-12377081
204MC2R180.988814317673381089413885419-13885428
205NPC1180.998957518894974383721115539-21115542
206LAMA3180.9991001799640191000221269658-21269664, 21269669, 21399892
207DSC3180.9858788554440738269128574304-28574314, 28598659-28598685
208DSC2180.999260901699932270628659911-28659912
209DSG2180.999702114983621335729111215
210LOXHD1180.9995479204343663644140200-44140202
211MYO5B180.9933297277807837554747352944-47352980
212SMAD4180.9855334538878824165948593505, 48593535-48593557
213ATP8B1180.9957401490947816375655365036-55365051
214TNFRSF11A180.9827120475418732185159992586-59992617
215ELANE190.8681592039801106804853262-853367
216KISS1R190.98496240601504181197917725-917729, 918667-918668, 920312-920313, 920316-920318, 920712-920714, 920723-920724, 920738
217MAP2K2190.923524522028269212034123781-4123872
218TUBB4190.991011235955061213356495415-6495426
219C3190.99879807692308649926707149, 6707152-6707156
220DNM2190.997321086873337261310940952-10940958
221PRKCSH190.996219281663526158711558341-11558346
222CACNA1A190.9953463635154935752113318655, 13318672-13318697, 13318862-13318867, 13409608, 13616953
223NOTCH3190.9941142693080741696615311629, 15311638-15311642, 15311652-15311658, 15311669-15311676, 15311679, 15311682-15311695, 15311702, 15311707-15311710
224JAK3190.9949629629629617337517940981-17940991, 17953176-17953181
225CEBPA190.9387186629526566107733792913-33792915, 33792918, 33792973, 33792985, 33792992, 33792999-33793008, 33793023-33793025, 33793033, 33793169-33793175, 33793179-33793199, 33793204, 33793207-33793222
226SCN1B190.97273853779432280735521725-35521743, 35521758, 35521763-35521764
227RYR1190.99761857511411361511738993175, 38993178-38993179, 39055751-39055754, 39055764-39055767, 39055778, 39055788, 39055792-39055795, 39055798-39055800, 39055804-39055810, 39055816, 39055825, 39055844-39055847, 39055872, 39078042, 39078055
228DLL3190.998922994076472185739993594-39993595
229PRX190.9940720474236226438640901322-40901328, 40909681-40909692, 40909709-40909710, 40909716-40909720
230ATP1A3190.99945622620992367842471105-42471106
231BCAM190.9862215156332826188745321861, 45321872-45321877, 45322003-45322014, 45324040-45324046
232SIX5190.9950450450450511222046269097-46269098, 46269106-46269107, 46270179-46270185
233DMPK190.9920634920634915189046285525-46285532, 46285535-46285537, 46285543, 46285546-46285548
234FKRP190.997311827956994148847259666, 47259669, 47259672-47259673
235DBP190.99386503067485697849138851-49138855, 49138964
236MED25190.999554367201431224450339523
237MYH14190.9934544264441240611150789887-50789895, 50789899-50789920, 50795591-50795599
238KCNC3190.84036939313984363227450823506-50823510, 50823513-50823592, 50826275-50826279, 50826284, 50826289-50826293, 50826392, 50826409-50826413, 50826419-50826421, 50826426-50826427, 50826459, 50826651, 50831520, 50831526-50831528, 50831531, 50831683-50831714, 50831738-50831744, 50831883-50831898, 50831943, 50831951-50831959, 50831963-50831965, 50831972, 50831983-50831990, 50832152, 50832169-50832339
239PRKCG190.9871060171919827209454393164-54393168, 54393178-54393181, 54393208, 54393221-54393226, 54393241, 54393248, 54393250-54393251, 54410081-54410082, 54410089-54410093
240TSEN34190.9989281886388193354695299
241NLRP7190.997752087347467311455451167-55451173
242TNNT1190.98859315589354978955657826-55657834
243KLF1120.9909031838856414153910183872-10183885
244HADHA20.999563699825481229226461823
245OTOF20.9911578244911653599426699768-26699808, 26699820-26699821, 26699855, 26699886-26699893, 26699901
246EIF2B420.998774509803922163227592331-27592332
247C2orf7120.998707008016555386729294047-29294051
248ALK20.999794365617931486329451753
249SPAST20.91950297136683149185132289023-32289026, 32289080-32289086, 32289113-32289248, 32341228-32341229
250LRPPRC20.9968936678614113418544145164-44145176
251SIX320.969969969969973099945169425-45169454
252MSH620.997795738427639408348010462-48010465, 48010468, 48010488, 48010535, 48010547, 48032757
253NRXN120.998418079096057442551255336-51255342
254EFEMP120.9784075573549332148256094233, 56102113, 56102117-56102118, 56102130, 56144951-56144977
255MCEE20.99435028248588353171337128-71337130
256DYSF20.999528301886793636071891492-71891493, 71891496
257ALMS120.99824056301983221250473613032-73613046, 73828339-73828345
258SUCLG120.9827089337175818104184668177-84668190, 84686330-84686333
259GGCX20.997364953886696227785788529-85788530, 85788534-85788537
260REEP120.970297029702971860686564616-86564633
261EIF2AK320.999104744852283335188926730-88926732
262RANBP220.903359173126619359675109345650-109345655, 109347317-109347341, 109352011-109352055, 109352099-109352105, 109356945-109356956, 109357110-109357116, 109363167-109363203, 109365376-109365394, 109365423-109365467, 109367831-109367874, 109368074-109368110, 109368430-109368450, 109370369-109370401, 109371361-109371362, 109371385-109371424, 109371495-109371512, 109371632-109371633, 109371656-109371689, 109374869-109374872, 109374901-109374918, 109382170, 109382700-109382706, 109382746-109382754, 109382787-109382793, 109382840-109382846, 109382937-109382946, 109382986-109383003, 109383052-109383058, 109383084-109383113, 109383137-109383148, 109383187-109383210, 109383268-109383289, 109383315-109383360, 109383635-109383678, 109383768-109383798, 109383822-109383828, 109383885-109383906, 109383968-109384010, 109384042-109384048, 109384164-109384170, 109384393-109384412, 109384466-109384473, 109384505-109384511, 109384561-109384603, 109384628-109384667
263MERTK20.99933000112722768-112722770
264GLI220.9995799201848424761121746214, 121746221
265PROC20.99711399711441386128180694-128180696, 128180706
266CFC120.995535714285713672131280371, 131280380-131280381
267RAB3GAP120.9993211133740722946135815633, 135848605
268NEB20.9927906278161614419974152432667-152432686, 152432708-152432823, 152432829-152432836
269SCN2A20.99518112329678296018166211149-166211151, 166221714-166221715, 166234115, 166234130, 166237627-166237634, 166237649-166237655, 166245912-166245918
270GALNT320.9931650893796131902166618422-166618434
271SCN1A20.99533099883275285997166848838-166848865
272SCN9A20.9996629592180725934167089960-167089961
273AGPS20.97268588770865541977178333240, 178346805, 178346812, 178346816, 178346823, 178346857-178346902, 178346913-178346914, 178362448
274TTN20.999910222647839100248179588813-179588815, 179598160-179598161, 179598172, 179665141-179665143
275COL3A120.99613724153601174401189854175, 189856946, 189861193-189861196, 189871663-189871670, 189871681, 189872653, 189872664
276PMS120.998928188638832799190718676, 190718766, 190718773
277HSPD120.98954703832753181722198351826-198351843
278CASP820.9993815708101411617202131380
279ALS220.9997989545637314974202626389
280CPS120.9984454807905874503211455578-211455584
281ABCA1220.9996147919876737788215809825-215809827
282OBSL120.99613424705676225691220416358-220416365, 220435637, 220435643, 220435677, 220435680, 220435684-220435687, 220435742, 220435747-220435750, 220435900
283SP11020.9995331465919712142231036476
284CHRNG20.998069498069531554233409099-233409101
285AGXT20.9983036471586121179241818131-241818132
286D2HGDH20.98850574712644181566242707183-242707200
287C20orf54200.9943262411347581410742445-742452
288AVP200.88888888888889554953063630-3063674, 3063740, 3063748, 3063776-3063780, 3063792-3063794
289C20orf7200.9807321772639720103813782132-13782151
290THBD200.9942129629629610172823028890-23028899
291SNTA1200.994071146245069151832031400-32031404, 32031408-32031411
292GDF5200.999335989375831150634025112
293KCNQ2200.999618174875911261962103708
294SOX18200.69004329004329358115562680512-62680869
295BACH1210.997738579828135221130715036-30715040
296IFNGR2210.9674556213017833101434775853, 34775858-34775860, 34775869-34775874, 34775884-34775889, 34775897-34775901, 34775904-34775906, 34775912-34775920
297RUNX1210.9993069993071144336259319
298AIRE210.9963369963376163845712885, 45712970-45712972, 45712976-45712977
299ITGB2210.99610389610399231046308638, 46308641, 46308669, 46308688-46308693
300COL18A1210.99886039886046526546875474-46875479
301COL6A1210.9967606090055110308747401767-47401770, 47401784-47401787, 47410179, 47410333
302COL6A2210.999673202614381306047531399
303FTCD210.9833948339483427162647565742-47565768
304PCNT210.99840175806613161001147766110-47766116, 47832898-47832906
305PEX26220.985838779956431391818561223-18561229, 18561232-18561237
306PRODH220.9933444259567412180318905891-18905902
307TBX1220.88978494623656164148819748428-19748588, 19748598, 19753923, 19753952
308CHEK2220.93639977285633112176129083906-29083917, 29083946-29083966, 29085123-29085143, 29085165-29085171, 29090020-29090033, 29091139-29091160, 29091197-29091203, 29091837-29091844
309TIMP3220.98899371069182763633253295-33253301
310LARGE220.999559665345661227133700240
311TRIOBP220.9650605804452248709838119856-38119905, 38119993-38120009, 38120037-38120068, 38120150-38120199, 38120270-38120303, 38120394-38120450, 38120480-38120486, 38122462
312SOX10220.998572448251252140138374019-38374020
313EP300220.998895790200148724541546104-41546111
314TNFRSF13C220.933333333333333755542322265-42322266, 42322269, 42322277-42322292, 42322295-42322296, 42322299, 42322301-42322308, 42322314, 42322330-42322335
315CYB5R3220.976821192052982190643045301-43045321
316MLC1220.9735449735449730113450502589-50502618
317TYMP220.9792960662525930144950964475, 50964479-50964480, 50964483-50964487, 50964500-50964506, 50964514, 50964517-50964521, 50964715-50964720, 50964786-50964788
318ARSA220.9803149606299230152451063677-51063679, 51063692-51063706, 51063714-51063717, 51064421-51064428
319SHANK3220.89149504195271569524451113070-51113132, 51135951-51136143, 51158745-51158749, 51158753, 51158756-51158757, 51158759-51158761, 51158773-51158782, 51158785, 51158789-51158814, 51158824, 51158827, 51158860-51158863, 51158869, 51158875-51158876, 51158887-51158888, 51158893-51158898, 51158905-51158936, 51158943-51158976, 51158995-51159042, 51159933, 51169202-51169208, 51169268, 51169339, 51169430, 51169474-51169509, 51169532-51169595, 51169601-51169606, 51169615, 51169620, 51169632-51169635, 51169678-51169688
320FANCD230.980751811594285441610085532-10085539, 10088264-10088311, 10088340-10088346, 10091149-10091156, 10107165-10107171, 10114941-10114947
321RAF130.996404725218287194712660113-12660119
322COLQ30.997076023391814136815531087-15531090
323TMIE30.99782135076253145946743007
324TMIE30.99150743099788447146743007, 46751074-46751076
325GNAT130.995251661918335105350229227-50229231
326RFT130.998154981549823162653156428, 53156432, 53156436
327HESX130.99820788530466155857233930
328FLNB30.999359713151495780958062876, 58062887-58062890
329ATXN730.90909090909091258283863898275-63898399, 63898416-63898417, 63898442-63898449, 63898459-63898575, 63898585-63898590
330MITF30.996161228406916156369788784-69788789
331GBE130.9848269321953532210981754630-81754631, 81754646-81754648, 81754681-81754685, 81754697-81754698, 81754702-81754705, 81754716-81754721, 81754732-81754738, 81754749-81754751
332CHMP2B30.99221183800623564287299121-87299122, 87299125-87299127
333PROS130.9931068439192514203193595983-93595987, 93596002, 93605199-93605205, 93624870
334NPHP330.967693463561231293993132438549-132438674, 132441013-132441015
335PCCB30.9981481481481531620136048795-136048796, 136048801
336FOXL230.97170645446508321131138664654-138664655, 138664658, 138664676, 138664791-138664797, 138664851-138664853, 138664863-138664871, 138664877-138664885
337PLOD230.98682476943347302277145804581, 145804619, 145804622, 145804625, 145804656, 145804659-145804666, 145804675-145804691
338SLC2A230.9974603174603241575170716883-170716886
339OPA130.99212598425197243048193354984-193355007
340IDUA40.9979612640163141962995815-995818
341FGFR340.990523279769262324271808897-1808918, 1808972
342HTT40.992151871884617494293076618, 3076620-3076665, 3076670-3076678, 3076681-3076689, 3076721-3076722, 3076728, 3076753-3076758
343DOK740.992079207920791215153465267-3465278
344EVC40.992614971466942229795713108-5713110, 5713115-5713116, 5713191, 5713245-5713259, 5785463
345PROM140.996535796766749259815981526, 15985948-15985955
346CNGA140.9741228070175459228047954600-47954618, 47954648-47954687
347SLC4A440.9957382039573814328572306347-72306360
348ALB40.999453551912571183074283248
349CDS140.9985569985572138685562003, 85562006
350PKD240.9817681458548353290788928896-88928929, 88928939-88928942, 88928945, 88928948-88928951, 88928998, 88929004-88929012
351SNCA40.96453900709221542390749294-90749308
352CISD240.9117647058823536408103808506-103808522, 103808569-103808587
353CFI40.9977168949771741752110723109-110723112
354GAR140.996941896024462654110745121-110745122
355BBS740.949720670391061082148122766679-122766680, 122766699-122766706, 122766715, 122766721-122766722, 122766729-122766733, 122775859-122775860, 122775881-122775949, 122775955, 122775960-122775962, 122775965-122775970, 122775973-122775975, 122782702, 122782744, 122782753-122782756
356FGA40.9988465974625132601155507939-155507941
357GLRB40.9384203480589921494158041708-158041799
358GK40.939831528279181001662166199162-166199168, 166199234-166199240, 166199358-166199392, 166199423-166199432, 166199550-166199569, 166199603-166199609, 166200447-166200453, 166200757-166200763
359SDHA50.923809523809521521995223682-223683, 228319-228325, 228393-228438, 233595, 236673-236684, 251107-251114, 251143-251149, 251190-251214, 251500-251506, 254571-254577, 254606-254621, 256469-256475, 256511-256517
360TERT50.981465136804946333991294676-1294713, 1294729-1294735, 1295058-1295061, 1295065, 1295083-1295089, 1295099-1295104
361DNAH550.9996396396396451387513727741, 13916458, 13916480, 13916489, 13916546
362FAM134B50.997991967871493149416483473-16483475
363SLC1A350.9901780233271916162936608609-36608624
364NIPBL50.98526440879382124841537036481-37036488, 37036509-37036548, 37036567, 37036572-37036579, 37036587-37036589, 37048604-37048612, 37048615, 37048622, 37048632-37048639, 37048648-37048677, 37048683-37048684, 37048705-37048707, 37048716-37048725
365LIFR50.9954462659380715329438482242-38482243, 38482696, 38482726-38482728, 38482742-38482748, 38482751, 38482755
366OXCT150.9795265515035232156341862748, 41862782-41862786, 41862791-41862808, 41862845-41862852
367GHR50.999478351591031191742718969
368ERCC850.999160369437451119160200654
369NDUFAF250.99803921568627151060448581
370SMN250.974011299435032388569359242-69359247, 69362945-69362961
371SMN250.974011299435032388570234666-70234671, 70238369-70238385
372AP3B150.9957382039573814328577311234-77311235, 77311366-77311369, 77396841, 77411984-77411985, 77563344-77563348
373RASA150.9713740458015390314486665630-86665646, 86670065-86670137
374MEF2C50.9880450070323517142288024354, 88024357, 88024392-88024398, 88024406-88024411, 88024416-88024417
375GPR9850.99915437873263161892189914969-89914976, 90021431, 90049557-90049558, 90144520, 90144603-90144605, 90144623
376PCSK150.996905393457127226295746569-95746575
377WDR3650.996848739495892856110436361, 110441799-110441803, 110459806-110459808
378APC50.9957805907173368532112128177-112128212
379HSD17B450.98417005879692352211118835104-118835138
380LMNB150.9994321408290711761126113467
381FBN250.99759697905939218739127702070-127702090
382TGFBI50.999512670565312052135364878
383MYOT50.98062792251169291497137221744-137221772
384MATR350.9980345911949752544138651792, 138658531, 138658540, 138658655-138658656
385NDUFA250.986666666666674300140027143-140027145, 140027148
386DIAPH150.99738151348521103819140907263-140907264, 140953388, 140953460-140953461, 140953477, 140953489, 140953564-140953566
387PPP2R2B50.9947447447447471332146077689-146077695
388SPINK550.99056316590563313285147499858-147499888
389TCOF150.9986225895316864356149776400-149776405
390GABRG250.98966408268734161548161495034-161495049
391GRM650.98936977980258282634178421897-178421911, 178421920, 178421930-178421941
392FLT450.9990224828934544092180076519-180076521, 180076526
393FOXC160.959687123947056716621610863-1610865, 1611459-1611482, 1611687, 1611799-1611830, 1612015, 1612018-1612020, 1612028, 1612033-1612034
394TUBB2B60.99925261584454113383225572
395ATXN160.9852941176470636244816327861-16327862, 16327888, 16327891, 16327894, 16327897, 16327900-16327909, 16327912, 16327915-16327927, 16327931, 16327934, 16327950-16327953
396HLA-H60.922666666666675875029855856-29855858, 29855978, 29855999-29856000, 29856311-29856314, 29856318, 29856330, 29856347, 29856353, 29856368, 29856389, 29856400-29856401, 29856424-29856427, 29856439-29856440, 29856513-29856516, 29856534, 29856546, 29856550, 29856593-29856614, 29856643, 29856679, 29856686, 29856693, 29856711
397TNXB60.93986521513738116192931976916, 31976926, 31977388-31977394, 31977525-31977555, 31977998, 31978498-31978527, 31979441-31979483, 31979963, 31980000
398CYP21A260.9764784946236635148832006215-32006217, 32006317, 32006337, 32007787-32007793, 32008448-32008455, 32008893-32008907
399TNXB60.99300809175898891272932009648-32009664, 32010123-32010129, 32010272, 32010732, 32011235, 32011248, 32012295-32012337, 32012814-32012820, 32021355-32021365
400HLA-DQA160.8658854166666710376832605257, 32609105-32609106, 32609119, 32609126-32609128, 32609181, 32609195, 32609199, 32609212-32609241, 32609245-32609248, 32609278-32609279, 32609286, 32609299, 32609322, 32609789, 32609855, 32609940-32609968, 32610387-32610406, 32610461, 32610495, 32610535
401HLA-DQB160.7137404580152722578632629124-32629173, 32629193-32629194, 32629199, 32629224-32629234, 32629755, 32629764, 32629847, 32629859, 32632575-32632663, 32632682-32632689, 32632691-32632692, 32632694-32632696, 32632699-32632717, 32632724, 32632741-32632747, 32632770, 32632781-32632783, 32632791-32632806, 32632815, 32632820, 32632832, 32634300-32634302, 32634306, 32634331
402COL11A260.998272884283259521133140131-33140138, 33140357
403SYNGAP160.93501984126984262403233388042-33388108, 33393584-33393655, 33393666, 33393678-33393680, 33411494-33411504, 33411508-33411510, 33411525-33411530, 33411535, 33411538, 33411546-33411547, 33411563-33411586, 33411593-33411603, 33411610-33411668, 33411681
404RUNX260.9840357598978325156645390451, 45390455-45390478
405MUT60.9742565468264558225349409553-49409581, 49409613, 49409668-49409669, 49415497-49415498, 49419313-49419322, 49421374, 49427012-49427024
406EYS60.9919448860625376943565098589-65098591, 65098669, 65523345-65523346, 65523365-65523390, 65523394-65523401, 65596592-65596596, 65596610-65596614, 65596621, 66005888-66005898, 66005902, 66005909-66005919, 66005922, 66112492
407LMBRD160.996919285274185162370462190, 70500273-70500276
408COL9A160.9877078814172134276670972967-70973000
409RIMS160.999015554242965507972974738, 73108778-73108781
410MYO660.998444790046666385876599774-76599778, 76599781
411LCA560.996657115568297209480196742, 80196805, 80196808-80196812
412BCKDHB60.9550466497031453117980881055-80881107
413PDSS260.9983333333333321200107780254, 107780274
414SEC6360.9991239597021522283108279175-108279176
415FIG460.999265785609422724110064472, 110081479
416COL10A160.9980420949583942043116442359-116442360, 116442369-116442370
417LAMA260.9998931966250119363129670502
418ENPP160.99532037437005132778132203486, 132203497, 132203515-132203520, 132203526, 132203535-132203537, 132204862
419AHI160.9977722082985283591135759571-135759578
420PEX760.9753086419753124972137167252, 137167261-137167263, 137167269-137167288
421PEX360.9973262032085631122143792107, 143792111-143792112
422EPM2A60.9809236947791219996146056502, 146056604-146056621
423SYNE160.999280139425631926394152716680-152716682, 152716688-152716689, 152751714-152751726, 152819923
424PARK260.9992846924177411398161969971
425TBP60.94313725490196581020170871028-170871029, 170871035-170871037, 170871040, 170871043, 170871045-170871047, 170871050, 170871053, 170871056-170871065, 170871070-170871099, 170871131-170871136
426LFNG70.8868421052631612911402559496-2559535, 2559571, 2559593-2559635, 2559656-2559664, 2559675, 2559688-2559694, 2559704-2559709, 2559740, 2559754, 2559765-2559766, 2559775, 2559801-2559803, 2559813, 2559827-2559832, 2559835, 2559839-2559844
427PMS270.987253765932793325896013045-6013052, 6013150-6013156, 6026942, 6026988, 6027002, 6029484, 6045523-6045529, 6045594-6045600
428TWIST170.7586206896551714760919156798-19156944
429DNAH1170.99756852343059331357221629004, 21630536, 21630640, 21630915, 21630924-21630936, 21893933-21893948
430HOXA1370.80119965724079232116727239078-27239103, 27239287-27239309, 27239316-27239485, 27239522, 27239539, 27239545-27239552, 27239562-27239564
431BBS970.9958708708708711266433303916-33303917, 33303958, 33303970, 33303974-33303980
432GLI370.999789162977021474342005852
433CCM270.9775280898876430133545039933-45039962
434EGFR70.999724745389491363355087012
435SBDS70.974767596281541975366456147-66456165
436NCF170.964848484848482982572639957-72639963, 72640033-72640039, 72643704-72643710, 72644230-72644236, 72645927
437ELN70.998160919540234217573442551, 73442565, 73477660, 73477663
438NCF170.969309462915636117374191613-74191619, 74203018-74203046
439HSPB170.99190938511327561875932254-75932257, 75932279
440AKAP970.99829409757762201172491609611, 91609638, 91630265-91630266, 91706321, 91714911-91714917, 91714939, 91736668-91736674
441PEX170.9940290758047823385292140305-92140327
442COL1A270.9909778102901737410194030899, 94030916-94030921, 94049921-94049923, 94058716-94058742
443IFRD170.98746312684366171356112102217-112102229, 112112871-112112874
444CFTR70.954085077650242044443117188713-117188753, 117188760-117188800, 117188838-117188853, 117235007-117235112
445AASS70.9996404171161512781121769531
446IMPDH170.9977777777777841800128049876, 128049879-128049881
447ATP6V0A470.99246928260008192523138394386, 138394389, 138394394-138394405, 138394408, 138394413-138394414, 138394429, 138394432
448BRAF70.99174272055628192301140453095-140453097, 140624405-140624411, 140624414-140624422
449PRSS170.8709677419354896744142458434-142458454, 142459625-142459629, 142459664-142459682, 142459863-142459878, 142460313, 142460335, 142460339, 142460366-142460397
450CNTNAP270.9982482482482573996145813984-145813988, 145813994, 145813997
451KCNH270.99540229885057163480150644698-150644699, 150644706-150644708, 150644723-150644724, 150644729, 150644732-150644733, 150644736, 150644739, 150644747, 150671881, 150671888, 150675001
452PRKAG270.9994152046783611710151269795
453SHH70.9978401727861831389155595804-155595806
454MNX170.868988391376451581206156799286, 156799289-156799291, 156802645-156802793, 156802799, 156802896, 156802903-156802905
455CLN880.98606271777003128611728683-1728694
456HGSNAT80.9905660377358518190842995668-42995680, 42995707-42995711
457CHD780.9966644429619730899461693805-61693833, 61749461
458TTPA80.99761051373955283763998454-63998455
459EYA180.998875772906132177972184069, 72246337
460GDAP180.992571959145788107775275261-75275268
461DECR180.995039682539685100891029366-91029368, 91029375-91029376
462TMEM6780.998995983935743298894777825, 94777828, 94811899
463GDF680.998538011695912136897157159-97157160
464VPS13B80.992412873103229111994100050691, 100123384-100123456, 100123466-100123470, 100146870, 100287477-100287482, 100779034, 100836144-100836147
465KCNQ380.9988545246277232619133492756, 133492762-133492763
466CYP11B180.97354497354497401512143957207-143957208, 143958288-143958294, 143958572-143958602
467CYP11B280.9993386243386211512143993991
468PLEC80.991177516897912414055144993951, 144993954, 144993958, 144995901-144995907, 144996244-144996294, 144996515-144996559, 144998911-144998918, 144999230-144999233, 144999237-144999239, 145003679-145003681
469DOCK890.9992063492063556300452025-452029
470VLDLR90.99961861174676126222622249
471KCNV290.9993894993895116382718302
472GLIS390.99928392409595227934117931, 4118028
473JAK290.970873786407779933995069925-5069927, 5077453-5077533, 5077550, 5077567-5077580
474APTX90.991253644314879102932973555-32973563
475NPR290.999681933842241314435809156
476VPS13A90.98824146981627112952579814861-79814862, 79820249-79820256, 79824384, 79824442, 79896794-79896795, 79896826-79896842, 79897101-79897102, 79908403-79908424, 79910691, 79932545, 79932548-79932550, 79932553-79932555, 79932560-79932565, 79932604-79932614, 79933163, 79938100, 79938111-79938112, 79946926-79946927, 79975452-79975460, 79996921-79996928, 79996938-79996939, 79996988-79996991, 79997001-79997003
477PTCH190.999079189686924434498231118-98231121
478FOXE190.96345811051693411122100616697-100616737
479TGFBR190.9953703703703771512101867538-101867543, 101867550
480STXBP190.9966887417218561812130415996-130415999, 130416009-130416010
481TOR1A90.991991991991998999132585042-132585049
482SETX90.9995021160069748034135139877-135139879, 135139882
483CEL90.839277851166893652271135944521-135944527, 135944582-135944589, 135945985-135946018, 135946387-135946393, 135946654-135946702, 135946712-135946735, 135946745-135946768, 135946777-135946988
484ADAMTS1390.99089635854342394284136293765-136293788, 136293818, 136293825-136293829, 136293833-136293834, 136293837, 136293845, 136308654-136308657, 136308660
485COL5A190.99601232553924225517137534087, 137534099-137534101, 137534110-137534117, 137534127, 137642720-137642728
486LHX390.97849462365591261209139090807-139090808, 139090812, 139090849, 139090853, 139090869-139090876, 139090891-139090894, 139090897-139090905
487INPP5E90.9937984496124121935139333325-139333334, 139333345-139333346
488AGPAT290.9701314217443225837139581744-139581749, 139581755-139581759, 139581762, 139581769-139581778, 139581782, 139581786-139581787
489SLC34A390.9988888888888921800140128315, 140128339
490FANCBX0.998837209302333258014877358-14877360
491ARXX0.9940793368857310168925031651-25031654, 25031777-25031779, 25031787-25031789
492RPGRX0.94449262792715192345938145181-38145192, 38145324-38145399, 38145409-38145456, 38145511-38145514, 38145527-38145534, 38145537-38145538, 38145541-38145548, 38145567-38145579, 38145592, 38145604-38145610, 38145619-38145629, 38145707-38145708
493WASX0.999337309476471150948547193
494ARX0.9786463988418459276366765159-66765167, 66765176-66765190, 66765193, 66765196, 66765199-66765206, 66766374-66766398
495TAF1X0.9890883491728362568270586165-70586214, 70586223-70586229, 70586253-70586257
496ATRXX0.999866292285061747976912084
497BRWD3X0.9924200406729541540979991562, 79991577-79991585, 80064940-80064970
498SLC6A8X0.96750524109015621908152954114-152954118, 152954128-152954177, 152954186-152954192
499MECP2X0.95925183700735611497153363062-153363122
500OPN1LWX0.9917808219178191095153418511-153418519
501OPN1MWX0.95890410958904451095153453337-153453343, 153455586, 153455590, 153455598, 153455641-153455675
502OPN1MWX0.96529680365297381095153492704, 153492708, 153492716, 153492759-153492793
VariantPhase/
Zygosity
Allele freqImpactEvaluationSummary / Info
4CACNA1H-M313Vhet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
4CACNA1H-V664Ahet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.038 (benign)
4CACNA1H-A876Thet unknownDominant
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.041 (benign)
4CACNA1H-R2077Hhet unknown0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
2.5EDNRB-G57Shet unknownUnknown
pathogenic
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5TLR5-F822Lhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
2.5TLR5-F616Lhet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.011 (benign)
2.5TLR5-R392*het unknown0.035Complex/Other
pathogenic
Low clinical importance,
uncertain
This variant is believed to impair the ability to generate an immune response to the flagella of the bacteria. It is weakly associated with an increased incidence of Legionnaires' Disease, p = 0.085, increased lifetime risk of disease ~0.88% (about twice average). The variant is also weakly associated with a reduced incidence of systemic lupus erythematosus, p = 0.165.
2.5TLR5-Q181Khet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
2.5TP53-P72Rhomozygous0.550Unknown
pathogenic
Low clinical importance,
uncertain
This is a common variant was first reported as a polymorphism. It has since had mixed associations with cancer: Storey et al. conclude a 7x *increased* risk of HPV cancer for homozygotes vs hets, but Jones et al. find a 1.98x *decreased* risk for colorectal cancer. This variant may have significant impact on particular cancers, but it is unclear what effect it has on the overall burden of cancer.
2.5SP110-M523Thet unknown0.319Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5SP110-L425Shomozygous0.875Unknown
pathogenic
Low clinical importance,
uncertain
This variant is associated with a slightly increased risk of tuberculosis. It is unclear whether it is itself causal, or in linkage disequilibrium with some other causal variant that has a stronger effect.
2.5SP110-G299Rhet unknown0.822Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5SP110-W112Rhomozygous0.945Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5GJB2-M34Thet unknown0.008Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.808 (possibly damaging), Testable gene in GeneTests with associated GeneReview
2.5ADA-D8Nhet unknown0.009Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2TLR4-D299Ghet unknown0.062Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign)
2TLR4-T399Ihet unknown0.039Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.016 (benign)
2NEFL-S472ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1.5LOXL1-R141Lhet unknownUnknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.998 (probably damaging)
1.5LOXL1-G153Dhet unknown0.269Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.135 (benign)
1.5IL23R-L310Phet unknown0.884Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5IL23R-R381Qhet unknown0.029Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.997 (probably damaging)
1.25ABCA4-R943Qhet unknown0.039Unknown
benign
Low clinical importance,
uncertain
This is a polymorphism in a gene associated with Stargardt disease. Although it has a slight detectable effect in functional study, it is common in control groups and is not believed to have any significant pathogenic effect.
1.25ABCA4-G863Ahet unknown0.018Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests
1.25RYR2-S1400Ghet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.012 (benign), Testable gene in GeneTests with associated GeneReview
1.25RYR2-G1885Ehet unknown0.024Recessive
pathogenic
High clinical importance,
uncertain
Reported to cause arrhythmogenic right ventricular cardiomyopathy when compound heterozygous with G1886S, although this finding is weakened after correcting for multiple hypotheses and it is unclear what penetrance such a genotype might have, if it is causal.
1.25RYR2-Q2958Rhet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.25RNASEL-D541Ehet unknown0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1.25RNASEL-R462Qhet unknown0.208Complex/Other
pathogenic
Low clinical importance,
uncertain
Associated with increased risk of prostate cancer in individuals who already have a family history of prostate cancer, but studies have been unable to replicate this finding in sporadic (non-familial) prostate cancer cases.
1.25RNASEL-I97Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1HTT-G893Rhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
1HTT-V1064Ihet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TGIF1-P83Shifthet unknown0.139Complex/Other
pathogenic
Low clinical importance,
uncertain
Severe variants in this gene are associated with holoprosencephaly disorders when combined with loss-of-function variants in SHH. Haploinsufficiency was identified in some families with this condition. It is unclear how likely this variant is to occur in combination with an SHH variant, or what phenotypic effect the variant would have on its own.
1AIM1-C491Rhet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.091 (benign)
1AIM1-E1196Ahomozygous0.935Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.015 (benign)
1AP1S2-T35AhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1AP1S2-R29PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1AKAP1-A18Vhomozygous0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.96 (probably damaging)
1C19orf55-G398ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1HLA-DQA1-Q57Ehomozygous0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-A68VhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-G84Fhomozygous0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-R87Thomozygous0.170Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-M89Ihomozygous0.200Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Y103Shomozygous0.544Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q152Hhomozygous0.526Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q198Ehet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1APOE-R176Chet unknown0.073Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
1KRT6C-V481IhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ADRB1-S49Ghet unknown0.003Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown
1ATG9B-A765ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KCP-H313ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KCP-A16ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SACS-P3678Ahet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview
1SACS-N232Khet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests with associated GeneReview
1ADRB2-G16Rhomozygous0.477Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
1ADRB2-E27Qhomozygous0.773Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
1CCDC66-D5ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CCDC66-Q383Rhomozygous0.934Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CCDC66-R460Qhomozygous0.206Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
1HLA-H-D29Ahomozygous0.071Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-H-E34MhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-H-C238Shomozygous0.729Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-M1764Vhet unknown0.273Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-K925Ehet unknown0.196Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-H865Rhet unknown0.238Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-K858Rhet unknown0.239Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-Q534Rhomozygous0.991Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1MLXIPL-A358Vhet unknown0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.345 (possibly damaging)
1MLXIPL-Q241Hhet unknown0.090Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging)
1B3GNT6-L316ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1B3GNT6-L335ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1MS4A14-I56ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1MS4A14-N177Yhomozygous0.543Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
1MS4A14-G584Rhomozygous0.513Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
1INSR-A2GhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1HADHB-T2TThomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1C2orf71-S1225SShomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1C2orf71-L792VhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1CTDP1-T340Mhomozygous0.085Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
1TTN-L29276Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-I23649Thet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-G20990Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-A19840PhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-V13182Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-R9852Hhet unknown0.198Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-G9378Rhet unknown0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-R7050Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-G5624Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-S3419Nhomozygous0.850Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-V3261Mhomozygous0.840Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-S1295Lhomozygous0.881Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-K1201Ehomozygous0.519Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-T811Ihet unknown0.146Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-E190Shifthet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1SLC22A1-R61Chet unknown0.024Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging)
1SLC22A1-L160Fhet unknown0.892Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1RYK-L17ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZFPM1-R22Ghet unknown0.569Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZFPM1-K431Nhet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZFPM1-E444ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZFPM1-L446ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TOR1A-D216Hhet unknown0.089Unknown
protective
Low clinical importance,
likely
This SNP has been shown to be benign and play a protective role against Dystonia.
1CPN2-Q509WhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1HSH2D-S223Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SPG7-T503Ahet unknown0.095Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
1SPG7-R688Qhet unknown0.072Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.203 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1VDR-M1Thomozygous0.687Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
1ZNF598-M637Thet unknown0.601Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF598-S449Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF598-G42ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF598-E25GhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF598-G6ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ANKK1-R122Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.272 (possibly damaging)
1ANKK1-A239Thet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.852 (probably damaging)
1ANKK1-G318Rhet unknown0.165Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
1ANKK1-G442Rhomozygous0.541Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ANKK1-H490Rhet unknown0.210Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
1ANKK1-E713Khet unknown0.347Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1ICAM1-K469Ehomozygous0.297Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1CCDC50-L121Fhomozygous0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.834 (possibly damaging), Testable gene in GeneTests
1VSIG10L-Q860ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1VSIG10L-R592QhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1VSIG10L-M356IhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1VSIG10L-N3ThomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1BANK1-R61Hhet unknown0.221Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1BANK1-C650Rhomozygous0.990Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HTR2C-C23Shomozygous0.191Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign)
1SEPN1-C108Yhomozygous0.789Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SEPN1-N467KhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ZNF167-N494ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CUL7-Q813RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CUL7-A594Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ADAMTSL3-H146Rhet unknown0.706Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.04 (benign)
1ADAMTSL3-L290Vhomozygous0.833Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ADAMTSL3-V661Lhomozygous0.711Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1ADAMTSL3-L869Fhet unknown0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.148 (benign)
1NPRL3-L489Shifthomozygous0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TCEAL6-Q175Shifthomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SCARF2-A832Ghet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1SCARF2-A814Ghet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1SCARF2-DV772ELhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1SCARF2-E764ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SCARF2-P747ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SCARF2-A745ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SCARF2-T425Shet unknown0.267Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1NEB-I6534Vhomozygous0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NEB-A6277Phomozygous0.691Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NEB-R4389Thomozygous0.724Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NEB-W3348ChomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NEB-K2613Nhet unknown0.138Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NEB-V1491Mhomozygous0.453Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NEB-Y1301Hhomozygous0.668Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NEB-K1027Nhomozygous0.476Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ARSA-T391Shomozygous0.423Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ARSA-W193Chet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview
1PIK3R6-L609ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1FGD1-R132QhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1OPHN1-L677MhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1RAD17-L557RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
1SSX7-D182Ehomozygous0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
1DGKK-D1111Nhomozygous0.145Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1DGKK-L1014ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PADI6-V343Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CILP-G1166Shet unknown0.766Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CILP-Q979Rhomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CILP-K575Ehomozygous0.974Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CILP-I395Thet unknown0.491Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1NHS-P551Shomozygous0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
1NHS-F1319Lhomozygous0.477Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1BC112980-K147ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KRT4-G160GAGGFGAGFGTGGFGhomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1HPS6-E484Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1HPS6-A486Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1HPS6-A597Phet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.028 (benign), Testable gene in GeneTests with associated GeneReview
1HPS6-G599Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1SPAG17-K1747Ehomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.949 (probably damaging)
1PTPN22-W620Rhomozygous0.970Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1FAM58A-Q15ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
1FAM58A-G4ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
1IL13-Q144Rhomozygous0.766Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1C8orf49-G26RhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1C8orf49-I81VhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1C8orf49-P97Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1C8orf49-C194*homozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1ZNF761-L47ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF761-I122ShomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF761-V168IhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF761-H373Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1HRNR-G2604Ehet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1HRNR-G2602Shet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1HRNR-C1414Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-S970Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1HRNR-S799Thet unknown0.569Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-R664Qhet unknown0.568Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-Y517Chet unknown0.185Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-G492Rhet unknown0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-E473Ghomozygous0.951Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-G427Dhet unknown0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-Q376Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-H273Qhet unknown0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-R85Hhet unknown0.553Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.078 (benign)
1HRNR-M1ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1GSTM1-K173Nhomozygous1.000Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1GSTM1-S210Thet unknown0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1KRTAP7-1-Y17ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1AURKA-I57Vhomozygous0.814Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1AURKA-F31Ihet unknown0.366Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1AX746750-S137Shifthomozygous0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ADH1B-H48Rhomozygous0.678Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1NR_027242-C222ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NR_027242-Q97ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NR_027242-L22PhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1PLEKHA2-P389Shifthomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1BACH1-G471Ahet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.937 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.875BRCA2-N289Hhet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.875BRCA2-N372Hhet unknown0.230Recessive
pathogenic
Low clinical importance,
uncertain
This is a common variant of BRCA2 (HapMap allele frequency of 23%). The variant is weakly associated with an increased chance of breast cancer, and zygosity of the variant is associated with sex of children: male children are more likely to be homozygous for this variant, female children are more likely to be heterozygous.
0.875BRCA2-N991Dhet unknown0.069Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.875BRCA2-V2466Ahomozygous0.954Dominant
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.875NPC1-W1122Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.875NPC1-I858Vhet unknown0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.061 (benign), Testable gene in GeneTests with associated GeneReview
0.875NPC1-M642Ihet unknown0.863Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.875NPC1-H215Rhet unknown0.222Complex/Other
protective
Low clinical importance,
likely
This variant is associated with a reduced risk of obesity, with an additive effect of -0.084 BMI per allele (an average of 0.54 pounds less, per allele, in a 5'6" individual).
0.75MTHFR-E429Ahet unknown0.243Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.099 (benign), Testable gene in GeneTests
0.75MTHFR-A222Vhet unknown0.250Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.858 (probably damaging), Testable gene in GeneTests
0.75PRNP-M129Vhet unknown0.258Complex/Other
protective
Low clinical importance,
well-established
This 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.
0.75LAMA3-L2122LQELhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75LAMA3-S2123Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.75LAMA3-S2834Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75KCNJ11-V337Ihet unknown0.761Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75KCNJ11-K23Ehet unknown0.711Unknown
protective
Low clinical importance,
likely
This variant is associated with decreased risk of type 2 diabetes. It is unclear whether this variant has additive effects, or acts in a dominant or recessive manner. Assuming diabetes has a lifetime risk of 36%, we estimate a decreased risk of around 1-2% per copy of this variant.
0.75ABCC6-R1268Qhet unknown0.142Unknown
pharmacogenetic
Low clinical importance,
uncertain
This common polymorphism appears to not have a significant phenotypic impact. A few studies report weak but significant associations with plasma lipids (in Inuits) and thalidomide toxicity.
0.75ABCC6-M848Vhomozygous0.954Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75ABCC6-H632Qhomozygous0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75ABCC6-V614Ahomozygous0.354Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75ABCC6-R265Ghet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75AGL-R322Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.75AGL-K385Nhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.27 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.75AGL-S841Fhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.017 (benign), Testable gene in GeneTests with associated GeneReview
0.625MUT-I671Vhet unknown0.522Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625MUT-E392Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.5MICA-Y59Chomozygous0.293Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-V152Mhomozygous0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-E196Khomozygous0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-S229Ghomozygous0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-R233WhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MICA-I236Thomozygous0.570Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-T238ShomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MICA-R274Qhomozygous0.538Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MICA-C329Rhet unknown0.206Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-P330Lhet unknown0.262Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP21A2-R103Khomozygous0.216Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HSPA1L-E602Khet unknown0.225Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign)
0.5HSPA1L-T493Mhomozygous0.868Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign)
0.5SLC26A2-I574Thomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC26A2-T689Shet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CMAH-V478Ahet unknown0.836Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CMAH-R310Phet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CMAH-N272Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CMAH-R241Whet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CMAH-I181Thet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CMAH-G131Shet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5APC-V1822Dhomozygous0.887Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FBN2-V965Ihomozygous0.714Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC22A4-I306Thomozygous0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SLC22A4-L503Fhet unknown0.142Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5NR_027706-G126Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PCSK1-S690Thet unknown0.218Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.061 (benign), Testable gene in GeneTests
0.5PCSK1-Q665Ehet unknown0.238Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5BDP1-D38Ehet unknown0.755Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BDP1-K722Ehet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5BDP1-V778Mhet unknown0.400Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.009 (benign)
0.5BDP1-G1180Shet unknown0.419Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BDP1-F1244Ihet unknown0.402Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BDP1-I1264Mhet unknown0.794Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BDP1-V1347Mhet unknown0.808Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BDP1-K1469Ehet unknown0.379Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.038 (benign)
0.5BDP1-I2013Lhet unknown0.824Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AP3B1-V585Ehomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-L1093Fhomozygous0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-V1951Ihomozygous0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-N1985Dhomozygous0.259Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-L2004Fhomozygous0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.841 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-N2584Shomozygous0.825Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-G3248Dhomozygous0.232Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-E3471Khomozygous0.834Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E5344Ghomozygous0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-V5427Mhomozygous0.918Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FSTL4-E353Dhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
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
0.5FLT4-R1146Hhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5FLT4-H890Qhomozygous0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.714 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5FLT4-N149Dhet unknown0.023Unknown
benign
Low clinical importance,
likely
Other severe variants in this gene are implicated in causing Milroy Disease (primary lymphedema) in a recessive manner. Although this variant is rare (2.3% allele frequency), it is still common enough that it is highly unlikely to have a severe, high penetrance pathogenic effect.
0.5TRIM7-G363Shet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TRIM7-V258Ahet unknown0.487Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TRIM7-Q95Ehet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.923 (probably damaging)
0.5DCDC2-S221Ghet unknown0.447Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DCDC2-P152Ahet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5GRM6-A807Vhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.418 (possibly damaging), Testable gene in GeneTests
0.5GRM6-Q59Phet unknown0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PROP1-N20Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FAT2-P4117Lhet unknown0.772Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT2-M3631Ihomozygous0.752Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.129 (benign)
0.5FAT2-L3514Shomozygous0.765Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT2-F2428Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT2-Y1181Hhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT2-P1164Lhomozygous0.361Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5FAT2-G1004Shomozygous0.400Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT2-F686Shomozygous0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT2-R574Chomozygous0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.967 (probably damaging)
0.5FAT2-V444Ahet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5KIF4B-R580Lhomozygous0.685Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIF4B-R680Hhomozygous0.176Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5KIF4B-V755Ihet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.877 (probably damaging)
0.5KIF4B-I834Shifthet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5KIF4B-R1029Hhomozygous0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.043 (benign)
0.5MSX2-M129Thomozygous0.716Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FGFR4-P136Lhet unknown0.768Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FGFR4-G388Rhet unknown0.301Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.481 (possibly damaging)
0.5SOD2-V16Ahomozygous0.362Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TNXB-G2518Ehomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-H1161Rhomozygous0.568Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MTUS1-S267Phet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5MTUS1-C148Rhomozygous0.659Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.986 (probably damaging)
0.5NAT2-R197Qhet unknown0.272Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5NAT2-R268Khomozygous0.675Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CHRNA2-T125Ahomozygous0.644Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CHRNA2-T22Ihet unknown0.256Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PEX2-C184Rhomozygous0.990Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-R171Shomozygous0.865Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D314Hhomozygous0.648Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D392Ghomozygous0.979Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-A761Vhet unknown0.504Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-P828Shet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CLCN1-G118Whomozygous0.995Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MBLAC1-S43Chet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.902 (probably damaging)
0.5CFTR-V470Mhomozygous0.621Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RNF133-M1Ihet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.965 (probably damaging)
0.5FLNC-R1567Qhet unknown0.074Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.676 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5METTL2B-V68Ihet unknown0.103Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5METTL2B-V266Ihomozygous0.923Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5METTL2B-R302Qhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5CNGB3-T298Phet unknown0.681Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview
0.5CNGB3-C234Whomozygous0.939Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GRHL2-K9Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DOCK8-A22Vhet unknown0.291Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.009 (benign), Testable gene in GeneTests
0.5DOCK8-D63Nhet unknown0.079Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests
0.5DOCK8-P97Thet unknown0.512Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests
0.5DOCK8-N413Shet unknown0.193Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.19 (benign), Testable gene in GeneTests
0.5TAF1L-M371Vhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5VPS13A-V898Ahet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-V1540Lhomozygous0.714Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-E289Qhomozygous0.801Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-V783Ahet unknown0.405Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-H752Qhomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-M613Thet unknown0.487Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-R364Hhomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RNF207-N573Shet unknown0.474Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RNF207-G603Ahet unknown0.165Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign)
0.5PLEC-E2458EVQEhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PLEC-R433Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC30A8-R325Whet unknown0.225Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5KLHL38-C504Yhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5KLHL38-R346Khomozygous0.719Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KLHL38-I334Vhomozygous0.734Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5KLHL38-H98Rhomozygous0.786Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.016 (benign)
0.5TRMT12-W28Rhomozygous0.615Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TRMT12-D195Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TRMT12-D195Ehet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0.5ZC3H3-R578Chet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ZC3H3-S452Ghomozygous0.754Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZC3H3-S399Ghet unknown0.375Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZC3H3-A228Shet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.068 (benign)
0.5ZC3H3-E151Dhet unknown0.406Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZC3H3-I6Mhet unknown0.200Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GSDMC-M475Thomozygous0.740Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GSDMC-P23Shet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5CYP3A7-R409Thomozygous0.669Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CYP3A7-E163Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5COL1A2-P549Ahomozygous0.907Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KIAA1009-S342Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5FAM26F-E293Khet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.855 (probably damaging)
0.5RSPH4A-L589Phomozygous0.707Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LAMA2-P564Shifthet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5LAMA2-A2585Vhet unknown0.594Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ROS1-S2229Chet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ROS1-K2228Qhet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ROS1-D2213Nhet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5ROS1-R167Qhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.983 (probably damaging)
0.5LCA5-G656Dhet unknown0.377Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LCA5-L24Shomozygous0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5FAM135A-S209Nhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.891 (probably damaging)
0.5FAM135A-D1242Ghet unknown0.331Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.025 (benign)
0.5HLA-DQB1-R199Hhet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-A172Thet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-G157Ahomozygous0.539Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-V15Ahet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-D12Ghomozygous0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A2-P894Lhet unknown0.088Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5UNC5CL-P499Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5EYS-R2326Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-N1902Ihet unknown0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-L1748Fhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-L1419Shet unknown0.780Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-L852Phet unknown0.655Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-E641Vhomozygous0.112Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PKHD1-Q4048Rhet unknown0.566Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-Q3899Rhet unknown0.546Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-S3505Rhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-L1870Vhomozygous0.905Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-A1262Vhet unknown0.239Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-R760Chet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BCLAF1-Y459Dhet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5BCLAF1-G66Ahet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LRP11-P92Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
0.5HOXA1-H146Nhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.673 (possibly damaging), Testable gene in GeneTests
0.5HOXA1-R73Hhomozygous0.743Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NPSR1-N107Ihomozygous0.462Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5EPDR1-A36Shifthet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ABCB1-S893Ahomozygous0.625Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NCF1-R90Hhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NCF1-G99Shet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DNAH11-E34Lhet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T400Ihet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-A568Thet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-V1023Ahet unknown0.193Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T1038Ahomozygous0.747Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T1847Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-N2641Shet unknown0.367Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-V3715Lhet unknown0.452Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-M4172Vhomozygous0.334Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T4177Ihet unknown0.359Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PMS2-K541Ehomozygous0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AKAP12-K117Ehomozygous0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AKAP12-K216Qhomozygous0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AKAP12-S887Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.883 (probably damaging)
0.5AKAP12-E1531EEhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AKAP12-E1600Dhomozygous0.435Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SYNE1-G8323Ahet unknown0.310Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-F7302Vhomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-L5015Mhomozygous0.866Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-S4596Thomozygous0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-K4121Rhomozygous0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-E4060Dhet unknown0.539Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5SERAC1-F47Ihet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.983 (probably damaging)
0.5SLC22A2-S270Ahomozygous0.876Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CCNO-I219Shifthet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5EIF2B5-I587Vhomozygous0.370Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5GHR-I544Lhomozygous0.473Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.5CFH-L3Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFH-H402Yhomozygous0.818Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFH-E936Dhet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.504 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5ASPM-L3132Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-L2647Ihomozygous0.198Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-S2562Ghomozygous0.212Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-Y2494Hhomozygous0.992Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CACNA1S-R1539Chet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CACNA1S-L458Hhet unknownUnknown
benign
Low clinical importance,
likely
Common polymorphism
0.5CR1L-R116Ghomozygous0.530Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CR1L-I139Vhet unknown0.146Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.089 (benign)
0.5CR1L-C207Yhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5CR1L-G263Vhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CR1L-N402Dhet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5CR1L-I455Vhet unknown0.653Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CR1L-L491Phet unknown0.333Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.065 (benign)
0.5HMCN1-T1056Ahet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HMCN1-M2327Ihet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests
0.5HMCN1-I2418Thet unknown0.553Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests
0.5HMCN1-E2893Ghet unknown0.617Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.91 (probably damaging), Testable gene in GeneTests
0.5HMCN1-H4084Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HMCN1-Q4437Rhomozygous0.547Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.5HMCN1-A4720Thet unknown0.084Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HMCN1-D5087Vhet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.351 (possibly damaging), Testable gene in GeneTests
0.5LAMC2-T124Mhet unknown0.076Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5FCGR3A-F212Vhomozygous0.818Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5DUSP27-E265Dhet unknown0.785Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DUSP27-D1067Nhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.868 (probably damaging)
0.5DUSP27-T1124Nhet unknown0.407Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.849 (possibly damaging)
0.5SELE-S149Rhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.978 (probably damaging)
0.5IER5-R92Hhet unknown0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IER5-V168Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5IER5-R194Ghet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5IER5-Q202RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5IER5-P285Shet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5MYOC-R76Khet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5SLC30A1-K479Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5EPHX1-Y113Hhet unknown0.290Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging)
0.5PEX13-L360Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR_003131-M159Vhet unknown0.274Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NR_003131-Q17Shifthet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5APLF-I100Vhet unknown0.213Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5APLF-S224Thet unknown0.323Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5APLF-Q433Khet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5ALMS1-R392Chet unknown0.409Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-S524SPhet unknown0.578Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-V671Ghomozygous0.857Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-G1414Ahet unknown0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-I1875Vhet unknown0.405Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-I2070Thet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-S2111Rhet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R2284Phet unknown0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R2826Shet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-N2856Shet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R4029Khet unknown0.527Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DYSF-R1040Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DYSF-R1349Lhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYP1B1-V432Lhet unknown0.547Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYP1B1-A119Shet unknown0.080Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYP1B1-R48Ghet unknown0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALK-I1461Vhomozygous0.982Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ACTN2-M604Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OR2T3-Y109Hhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5TPO-A257Shet unknown0.387Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TPO-A373Shomozygous0.188Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5TPO-S398Thomozygous0.684Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging), Testable gene in GeneTests
0.5GCKR-L446Phet unknown0.673Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5NT5C1B-R187Qhet unknown0.074Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5NT5C1B-S176*het unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5USP21-G321Dhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging)
0.5KCNJ10-R271Chet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.96 (probably damaging), Testable gene in GeneTests
0.5DEM1-G172Vhet unknown0.573Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DEM1-R344Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AKR1A1-N52Shet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.987 (probably damaging)
0.5CYP4A22-R126Whet unknown0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP4A22-G130Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5CYP4A22-N152Yhet unknown0.790Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP4A22-C231Rhet unknown0.598Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP4A22-L428Phet unknown0.297Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TGFBR3-H155Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.879 (probably damaging)
0.5TGFBR3-S15Fhet unknown0.212Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LRP8-R952Qhet unknown0.130Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5LRP8-D46Ehet unknown0.621Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CNKSR1-P284Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5HSPG2-V3640Ihet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-A1503Vhomozygous0.777Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-N765Shomozygous0.896Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-M638Vhomozygous0.978Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GPR157-A223Vhet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.857 (probably damaging)
0.5TNFRSF1B-M196Rhet unknown0.206Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.5NM_201628-T469Mhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.955 (probably damaging)
0.5NM_201628-A706Thomozygous0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5PINK1-N521Thomozygous0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP13A2-VV467DLhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ATP13A2-T466Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5RWDD3-I15Vhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.939 (probably damaging)
0.5RWDD3-V47Ahomozygous0.945Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RWDD3-N86Khet unknown0.786Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DPYD-R29Chomozygous0.731Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FLG-V3179Ghet unknown0.339Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5FLG-R2953Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-D2936Ghet unknown0.138Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-S2836Rhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-G2545Rhet unknown0.292Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5FLG-H2507Qhet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5FLG-L2481Shet unknown0.222Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5FLG-K2444Ehet unknown0.188Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5FLG-E2398Qhet unknown0.144Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.92 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5FLG-S2366Thet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.967 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5FLG-Y2119Hhet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-A2108Vhet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-S2020Ahet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-H1961Qhet unknown0.418Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-R1891Qhet unknown0.061Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-A1805Vhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-R1699Chet unknown0.428Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-R1684Hhet unknown0.190Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-R1560Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-S1482Yhet unknown0.243Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-R1376Ghet unknown0.170Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-R1360Hhet unknown0.164Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-A1167Ghet unknown0.425Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-E755Khet unknown0.155Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-P478Shet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5FLG-T454Ahet unknown0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.075 (benign), Testable gene in GeneTests with associated GeneReview
0.5FLG-G444Rhet unknown0.319Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5FLG-G332Vhet unknown0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5IL6R-D358Ahet unknown0.266Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.911 (probably damaging)
0.5GBA-K144Rhomozygous0.619Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GBA-R140Whomozygous0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CRP-T59Mhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5GBA-E365Khet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RPTN-F521Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5RPTN-K163Rhet unknown0.108Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5RPTN-S161Phet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.743 (possibly damaging)
0.5RPTN-R154Ghet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5RPTN-G142Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TCHH-K1902Qhet unknown0.543Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TCHH-L1258Vhet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TCHH-Y1140Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TCHH-L1136Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TCHH-R1128Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TCHH-R1106Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TCHH-W1016Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TCHH-K1010Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TCHH-E626Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TCHH-P625Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TCHH-L63Rhomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DBT-S384Ghomozygous0.869Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DBT-S242Phet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-S1547Phomozygous0.752Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-P1335Lhomozygous0.479Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GNAT2-V124Mhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.016 (benign), Testable gene in GeneTests with associated GeneReview
0.5PI4KB-F386Shifthet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SEC22B-D70Yhet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SEC22B-T81Khet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SEC22B-R107Qhet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SEC22B-C129Rhet unknown0.085Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SEC22B-R131*het unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5SEC22B-R180Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SEC22B-H189Rhet unknown0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH6-V141Mhet unknown0.942Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH6-G1694Ahet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.026 (benign)
0.5DNAH6-V2898Ihet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.931 (probably damaging)
0.5ACTR1B-A143Vhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
0.5MUC20-T345Shifthet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5IDUA-H33Qhomozygous0.750Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.5DOK7-R38Ghet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DOK7-R38Ghet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DOK7-P415Shet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.928 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5EVC-Y258Hhomozygous0.721Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5EVC-T372Mhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.5EVC-T449Khet unknown0.871Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EVC-E585Ghet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.063 (benign), Testable gene in GeneTests
0.5OPA1-S158Nhomozygous0.482Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5OPA1-A210Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HTR3E-E22Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5HTR3E-A86Thet unknown0.769Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RETNLB-L14Shifthet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5HGD-Q80Hhomozygous0.742Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CASR-R990Ghet unknown0.199Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.939 (probably damaging), Testable gene in GeneTests
0.5CASR-E1011Qhomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZXDC-P562Lhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5ZXDC-P118AhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5UMPS-G213Ahet unknown0.170Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5WFS1-R146Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WFS1-V333Ihet unknown0.889Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WFS1-R456Hhet unknown0.065Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5BST1-R125Hhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5MMAA-Q363Hhet unknown0.064Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TLR3-L412Fhet unknown0.200Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5DNAH5-I4450Vhomozygous0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-A4134Vhet unknown0.450Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-T3791Ihet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-L2862Fhet unknown0.212Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-I766Lhomozygous0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.026 (benign), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-T558Ahet unknown0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.791 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-G24Ehet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-H12Qhomozygous0.896Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HEATR7B2-D1529Ghet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5HEATR7B2-L1179Phet unknown0.779Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HEATR7B2-F890Lhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5HEATR7B2-V496Ihomozygous0.780Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HEATR7B2-E468Vhet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.025 (benign)
0.5HEATR7B2-W191Qhet unknown0.238Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HEATR7B2-W191Qhet unknown0.238Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ADAMTS12-T1495Ihomozygous0.620Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.17 (benign)
0.5ADAMTS12-E1422Qhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.131 (benign)
0.5ADAMTS12-P1414Thet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.983 (probably damaging)
0.5MGST2-Y93Hhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5CFI-T300Ahomozygous0.957Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TLR1-S602Ihet unknown0.727Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TLR1-N248Shet unknown0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5TLR1-I57Mhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.923 (probably damaging)
0.5TLR6-S249Phomozygous0.855Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AMBN-G180Delhet unknown0.183Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AMBN-A255Vhet unknown0.142Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.903 (probably damaging)
0.5AMBN-L354Phet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.984 (probably damaging)
0.5HADH-L86Phomozygous0.859Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDS1-L99Fhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NR_015394-G45Whet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_015394-F74Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_015394-T113Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5GBE1-T507Ahet unknown0.084Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GBE1-I334Vhomozygous0.979Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH7-L3319Phomozygous0.914Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH7-R545Chet unknown0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.02 (benign)
0.5DNAH7-K159Ehet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5ALS2-M1598Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALS2-F624Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALS2-V368Mhet unknown0.869Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NBEAL1-I2330Vhomozygous0.817Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NBEAL1-T2492Ahet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.889 (probably damaging)
0.5CXCR1-R335Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5CXCR1-M31Rhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ABCA12-S777Thomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL3A1-H1353Qhomozygous0.990Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCB11-V444Ahomozygous0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5NPHP1-P39Thet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.052 (benign), Testable gene in GeneTests with associated GeneReview
0.5CCDC74B-P201Shet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5CCDC74B-T169Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CCDC74B-H149Rhet unknown0.956Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LRP1B-G3615Ahet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.983 (probably damaging)
0.5LRP1B-Q3140Rhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LRP1B-Q48Rhet unknown0.246Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.508 (possibly damaging)
0.5SCN1A-A1056Thomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN3A-G1862Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.893 (probably damaging)
0.5SCN3A-N43Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5STK36-L462Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.949 (probably damaging)
0.5STK36-R583Qhomozygous0.474Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.892 (probably damaging)
0.5STK36-G1003Dhomozygous0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.061 (benign)
0.5OBSL1-Q1578Rhomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-E1365Dhomozygous0.723Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-R723Khomozygous0.770Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GLB1-S532Ghet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GLB1-C521Rhomozygous0.870Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GLB1-P10Lhomozygous0.391Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FYCO1-R1140Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5FYCO1-E994Khet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.937 (probably damaging)
0.5FYCO1-A679Vhet unknown0.350Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.16 (benign)
0.5FYCO1-R615Whet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5FYCO1-G321Ahet unknown0.408Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FYCO1-R250Qhomozygous0.919Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MAP4-V628Ihet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.92 (probably damaging)
0.5MAP4-E441Qhet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.931 (probably damaging)
0.5MAP4-S427Yhet unknown0.220Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5MAP4-R23Qhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5CACNA2D2-R75Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5BSN-A711Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5BSN-V713Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5BSN-A741Thet unknown0.232Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.345 (possibly damaging)
0.5XPC-Q939Khomozygous0.683Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TMEM43-K168Nhomozygous0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.064 (benign), Testable gene in GeneTests with associated GeneReview
0.5TMEM43-M179Thomozygous0.487Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A4-S1400Phet unknown0.504Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A4-V1327Mhet unknown0.464Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A4-P1004Lhet unknown0.528Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A4-I967Vhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A4-P482Shet unknown0.493Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-L141Phomozygous0.760Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-E162Ghomozygous0.764Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-P574Lhet unknown0.358Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-D1269Ehet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.583 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5ATG16L1-T300Ahomozygous0.347Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5AGXT-P11Lhet unknown0.142Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5AGXT-I340Mhet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NDUFA10-A2Ghet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5RECQL4-R1005Qhet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RECQL4-R766Shifthomozygous0.278Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests with associated GeneReview
0.5RECQL4-E267Dhet unknown0.471Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RECQL4-S92Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF224-M118Vhomozygous0.793Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF224-H162Lhomozygous0.780Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.262 (possibly damaging)
0.5ZNF224-K640Ehomozygous0.593Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TRPM1-H1498Qhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5TRPM1-E1375*het unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation, Testable gene in GeneTests
0.5TRPM1-S32Nhet unknown0.786Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TRPM1-M1Thomozygous0.898Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZFYVE19-P11Lhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.894 (probably damaging)
0.5ZFYVE19-R48Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZFYVE19-S376Ahomozygous0.814Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5STRC-R1521Qhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.5AHNAK2-E2503Ahomozygous0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.778 (possibly damaging)
0.5AHNAK2-L2146Vhomozygous0.696Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.007 (benign)
0.5AHNAK2-DI2092EVhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AHNAK2-E1856Dhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AHNAK2-A1405Vhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.651 (possibly damaging)
0.5AHNAK2-G1404Ehet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5AHNAK2-P1397Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AHNAK2-T1383Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AHNAK2-P1381Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AHNAK2-M1298Ihomozygous0.830Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.016 (benign)
0.5GALC-T641Ahomozygous0.892Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GALC-I562Thomozygous0.446Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.167 (benign), Testable gene in GeneTests with associated GeneReview
0.5GALC-R184Chet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.746 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5MTHFD1-K134Rhomozygous0.846Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MTHFD1-R653Qhet unknown0.320Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign)
0.5DCAF4-S325Ghet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.962 (probably damaging)
0.5COMP-N386Dhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MLH3-P844Lhet unknown0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5MLH3-N826Dhomozygous0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5STRC-Q84Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CACNA1A-E992Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CACNA1A-E917Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK1-F963Shifthet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PDIA2-Q195*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5PDIA2-G352Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PDIA2-N493Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PDIA2-P502Shet unknown0.108Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.011 (benign)
0.5MRPL28-Y230Chet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5MRPL28-H27Yhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5BBS4-I354Thomozygous0.399Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HEXA-I436Vhomozygous0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TSPAN16-S233Shifthet unknown0.016Unknown
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
0.5MYO5C-R172Chet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5NR2E3-T318Shifthomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.5SYNE2-M1969Thomozygous0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests
0.5SYNE2-A2284Vhomozygous0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-S2359Nhomozygous0.676Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-A2395Thomozygous0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-S2802Ghet unknown0.864Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.5SYNE2-I2942Vhet unknown0.622Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-D3253Hhet unknown0.684Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests
0.5SYNE2-H3309Rhet unknown0.647Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5SYNE2-W4001Qhet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-L5186Mhomozygous0.708Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZNF101-H127Rhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5CENPJ-S879Ahet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5CENPJ-P85Thet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.021 (benign), Testable gene in GeneTests with associated GeneReview
0.5CYP2B6-R487Chet unknown0.074Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.005 (benign)
0.5HTR2A-H452Yhet unknown0.098Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.489 (possibly damaging)
0.5SKA3-D335Ehet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.5MLXIP-R73Phet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5MLXIP-E396Ghet unknown0.455Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CADM4-Y159Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.983 (probably damaging)
0.5SH2B3-W262Rhet unknown0.768Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5HNF1A-I27Lhet unknown0.311Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HNF1A-S487Nhet unknown0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HNF1A-S574Ghomozygous0.976Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HPD-V340Lhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HPD-T33Ahomozygous0.884Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SUCLA2-S199Thomozygous0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KIF2B-A112Vhet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIF2B-P417Shet unknown0.797Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIF2B-R437Ghet unknown0.801Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIF2B-G468Ehet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5ZNF208-L1165Hhomozygous0.690Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF208-I329Thet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.47 (possibly damaging)
0.5ZNF208-S298Lhet unknown0.177Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
0.5ZNF208-E282Khomozygous0.644Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.963 (probably damaging)
0.5ZNF208-L272Fhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.949 (probably damaging)
0.5ZNF737-Y369Chet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ZNF737-C78Ghet unknown0.076Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.98 (probably damaging)
0.5SIX6-H141Nhomozygous0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.5C14orf104-D768Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5C14orf104-E62Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRODH2-P91Rhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.243 (possibly damaging), Testable gene in GeneTests
0.5ATP7B-V1140Ahomozygous0.495Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP7B-R952Khomozygous0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP7B-K832Rhomozygous0.455Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.461 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5ATP7B-V456Lhomozygous0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5ATP7B-S406Ahomozygous0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5ATP7B-A208Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5UTP14C-G85Vhomozygous0.559Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UTP14C-R319Hhet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5COL4A1-T555Phomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR_028064-G139Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NR_028064-H49Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ADAMTS10-H1101Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADAMTS10-T134Shomozygous0.910Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5TPSD1-L70Fhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5RAI1-G90Ahomozygous0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RAI1-P165Thet unknown0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5TSEN54-P7PEPhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TSEN54-E4Dhet unknown0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TSEN54-I137Lhet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.846 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5TSEN54-K347Nhet unknown0.430Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.968 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5TSEN54-A437Vhet unknown0.515Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5TSEN54-P483Ahet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5MAP2K3-P40Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.968 (probably damaging)
0.5MAP2K3-R55Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MAP2K3-S68Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.029 (benign)
0.5MAP2K3-R94Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.992 (probably damaging)
0.5MAP2K3-R96Whet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5MAP2K3-Q102*het unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5MAP2K3-L215Whet unknown0.429Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5MAP2K3-T222Mhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5MAP2K3-P287PSShet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MAP2K3-R293Hhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.338 (possibly damaging)
0.5MAP2K3-V339Mhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.815 (possibly damaging)
0.5TNFRSF13B-P251Lhomozygous0.206Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.183 (benign), Testable gene in GeneTests with associated GeneReview
0.5MFSD6L-L85Ihet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging)
0.5ENGASE-R321Hhet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
0.5KIAA0753-Q896Rhet unknown0.727Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIAA0753-K586Ehet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.854 (probably damaging)
0.5KIAA0753-P566Lhet unknown0.257Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5KIAA0753-L466Phet unknown0.728Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIAA0753-D444Nhet unknown0.563Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.135 (benign)
0.5KIAA0753-E375Dhet unknown0.282Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.937 (probably damaging)
0.5CHRNB1-E32Ghomozygous0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.288 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5PER1-A962Phomozygous0.709Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.212 (possibly damaging)
0.5PER1-P859Shet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.891 (probably damaging)
0.5PER1-RA568QShet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5UNC45B-I852Nhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5KRT14-A413Thet unknown0.024Dominant
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.5KRT14-C63Yhomozygous0.976Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GNGT2-Q17Rhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5COL1A1-T1075Ahomozygous0.961Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN4A-S524Ghomozygous0.938Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PNPO-R116Qhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.953 (probably damaging), Testable gene in GeneTests
0.5NPEPPS-M241Thet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5NPEPPS-G322Dhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5MIF4GD-Q126Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5DNAI2-A558Thomozygous0.674Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5STAT5B-P267Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5STAT5B-R258Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5WNK4-P1025Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZNF750-P288Lhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.984 (probably damaging)
0.5ZNF750-M235Vhet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.5ENO3-N71Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ENO3-V85Ahet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ERCC4-R415Qhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5CD226-S307Ghet unknown0.423Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5POMT1-D411Ehet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLX4-A1221Vhet unknown0.058Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.263 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5SLX4-P1122Lhet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5SLX4-A952Mhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLX4-L671Shet unknown0.058Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLX4-N457Khet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLX4-M386Vhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLX4-R204Chet unknown0.064Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview
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
0.5PLIN5-R306Whet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5PLIN5-C255Rhomozygous0.888Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.031 (benign)
0.5KISS1R-L364Hhomozygous0.875Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKD1-A4059Vhet unknown0.048Unknown
benign
Low clinical importance,
likely
Probably benign.
0.5PKD1-I4045Vhet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKD1-A3512Vhet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5PKD1-R3435Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKD1-F3066Lhet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5PKD1-H2638Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZSCAN10-L654Vhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.948 (probably damaging)
0.5TNFRSF11A-H141Yhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.909 (probably damaging), Testable gene in GeneTests
0.5TNFRSF11A-A192Vhet unknown0.625Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CD19-L174Vhomozygous0.876Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PLCG2-H257Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PLCG2-R268Whet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.95 (probably damaging)
0.5DSG4-P523Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5DSG4-I644Lhomozygous0.954Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CTNS-T260Ihomozygous0.825Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYO5B-K307Nhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO5B-T126Ahomozygous0.945Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HYDIN-E4159Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HYDIN-T4004Ahet unknown0.432Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-Q3904Shifthet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5HYDIN-M3868Rhet unknown0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-V3839Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-V3741Ihet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-A3738Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-L3315Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-A3290Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-I2693Shet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-K2588Rhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-D2569Nhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-G2557Ehet unknown0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-TEKER2520Delhet unknown0.644Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-L2501Shet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-P2454Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-N2444Ihet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-R2360Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HYDIN-E2305Ghet unknown0.347Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.988 (probably damaging)
0.5HYDIN-R2297Ghet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.997 (probably damaging)
0.5HYDIN-Q2275Rhet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.955 (probably damaging)
0.5HYDIN-Q2241Rhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-V2098Mhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-R2086Chet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.5HYDIN-R2017Hhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5HYDIN-I1533Vhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-V1228Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HYDIN-I1077Vhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.082 (benign)
0.5HYDIN-N724Dhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.955 (probably damaging)
0.5HYDIN-T690Ahet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.955 (probably damaging)
0.5SALL1-V1275Ihomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR56-S281Rhomozygous0.750Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR56-Q306Hhet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NQO1-P187Shet unknown0.283Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.215 (possibly damaging)
0.5ATP8B1-A1152Thomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DLL3-L142Qhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.707 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-G102Shet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-F124Shomozygous0.803Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-A162Ghomozygous0.997Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-D1370Ghomozygous0.257Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-M703Vhomozygous0.672Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-G428Shomozygous0.771Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-T210Mhomozygous0.557Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FTCD-A438Vhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PNLIPRP3-S179Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PNLIPRP3-V381Ihomozygous0.933Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PNLIPRP3-R382Ghomozygous0.945Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5YBEY-R150Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
0.5PCNT-T191Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-G704Ehomozygous0.855Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-V1038Ahomozygous0.847Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-I1639Vhet unknown0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-N1841Shet unknown0.221Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-R1953Hhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.014 (benign), Testable gene in GeneTests
0.5PCNT-L2097Phet unknown0.262Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5PCNT-H2125Phet unknown0.310Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-M2188Rhet unknown0.186Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-W2239Rhet unknown0.210Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5PCNT-Q2361Rhet unknown0.262Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.5PCNT-P2377Lhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.5PCNT-A2549Thet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.009 (benign), Testable gene in GeneTests
0.5PCNT-R2753Hhet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5PCNT-Q2792Rhet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.5PDE6C-S270Thomozygous0.419Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AVPI1-L36Rhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.924 (probably damaging)
0.5ZFYVE27-V82Ihet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZFYVE27-G138Vhomozygous0.720Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TACC2-V170Ihet unknown0.225Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TACC2-A530Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TACC2-L830Fhet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TACC2-W1103Rhomozygous0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5TACC2-A1425Thet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TACC2-E1916Khet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.98 (probably damaging)
0.5TACC2-S2909Thet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging)
0.5FANK1-L329Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.884 (probably damaging)
0.5KCNQ2-N780Thomozygous0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH1C-E819Dhomozygous0.408Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MMP9-Q279Rhomozygous0.477Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MMP9-R574Phomozygous0.813Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MMP9-R668Qhet unknown0.187Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KCNE1-S38Ghomozygous0.710Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5PLAC4-R44Phet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PLAC4-R42Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5GLT8D2-M273Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5GPR123-G55Shet unknown0.656Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GPR123-R60Ghet unknown0.653Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GPR123-A218Phet unknown0.585Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GPR123-R539Ghet unknown0.600Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GPR123-P1175Thet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.972 (probably damaging)
0.5AK160367-D257Ehomozygous0.676Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AK160367-M356Vhomozygous0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AK160367-V377Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5COL18A1-V1076Ihet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL18A1-P1121Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL18A1-PGP1362Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL18A1-PGP1362Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PIWIL3-V471Ihet unknown0.177Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5PIWIL3-V418Mhomozygous0.922Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PIWIL3-C412Rhet unknown0.657Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PIWIL3-P375Shet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.856 (probably damaging)
0.5CDHR1-H53Qhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.864 (probably damaging)
0.5SLC16A2-S107Phomozygous0.444Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC34A3-R67Hhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC34A3-E513Vhomozygous0.915Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-E3002Ghomozygous0.088Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-I2984Vhomozygous0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-A2914Vhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-S2717Whomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
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-L2153Fhomozygous0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P1559Shomozygous0.565Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P389Thet unknown0.513Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-F253Shet unknown0.801Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ATRX-Q929Ehomozygous0.565Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP7A-E1350Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-I2587Vhet unknown0.591Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-T1855Ahet unknown0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-I1386Vhet unknown0.494Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-G1252Rhet unknown0.494Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-D1192Ehomozygous0.598Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AK094914-K152NhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AK094914-T33Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AK094914-M25Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AK094914-C20Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SNAPC4-H799Qhet unknown0.378Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNAPC4-R729Qhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5NDOR1-R30Ghet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.894 (probably damaging)
0.5DMD-R2937Qhomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KAL1-V534Ihomozygous0.543Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CHAT-V461Mhomozygous0.927Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC5A4-R336Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SLC5A4-V143Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SLC5A4-E139*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5SLC5A4-A46Thet unknown0.109Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HPS4-Q620Hhomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5HPS4-H601Yhomozygous0.807Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-V547Mhet unknown0.780Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-E224Ghet unknown0.779Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PPYR1-A99Shet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.03 (benign)
0.5PPYR1-V276Mhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.889 (probably damaging)
0.5TRIOBP-S217Nhet unknown0.413Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests
0.5TRIOBP-Q398Delhet unknown0.308Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TRIOBP-K413Rhet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5TRIOBP-T715Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TRIOBP-S826Lhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.243 (possibly damaging), Testable gene in GeneTests
0.5TRIOBP-N863Khet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.5TRIOBP-F1187Lhet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests
0.5TRIOBP-E1372Dhet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests
0.5TRIOBP-W1377Rhomozygous0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.084 (benign), Testable gene in GeneTests
0.5ARSE-G424Shomozygous0.543Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5PTCHD3-*768Qhomozygous0.570Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-I584Mhomozygous0.963Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-M521Thomozygous0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-D473Ghomozygous0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.849 (possibly damaging)
0.5PTCHD3-C407Ghet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5PTCHD3-S309Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CCDC7-L77Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CYP2D6-T486Shet unknown0.331Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP2D6-C296Rhomozygous0.649Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP2D6-H94Rhet unknown0.112Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP2D6-L91Mhet unknown0.110Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP2D6-P34Shet unknown0.224Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5MKI67-K3217Ehomozygous0.426Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.017 (benign)
0.5MKI67-T3150Shomozygous0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MKI67-R3013Lhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5MKI67-Q2904Rhomozygous0.228Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MKI67-S2793Nhomozygous0.242Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.047 (benign)
0.5MKI67-D2760Ghomozygous0.228Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.047 (benign)
0.5MKI67-T2720Phomozygous0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
0.5MKI67-R2649Hhomozygous0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.458 (possibly damaging)
0.5MKI67-P2608Lhomozygous0.427Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.5MKI67-D2579Vhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MKI67-N2363Shomozygous0.426Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MKI67-P1877Lhet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.25 (possibly damaging)
0.5MKI67-R1876Qhomozygous0.221Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.986 (probably damaging)
0.5MKI67-R1817Thet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5MKI67-V1559Mhet unknown0.088Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.666 (possibly damaging)
0.5MKI67-T1247Ihet unknown0.087Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.997 (probably damaging)
0.5MKI67-L854Vhomozygous0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5MKI67-I631Lhet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.036 (benign)
0.5MKI67-E497Dhomozygous0.242Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.903 (probably damaging)
0.5MKI67-W238Rhet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MKI67-N104Shomozygous0.618Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.417 (possibly damaging)
0.5FUT2-W154*het unknown0.364Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5FUT2-G258Shet unknown0.390Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.954 (probably damaging)
0.5ETFB-P94Shifthet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5ETFB-P52Lhet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYH14-A1250Ehet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ATM-N1983Shomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DYNC2H1-H341Yhet unknown0.079Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.3 (possibly damaging), Testable gene in GeneTests
0.5DYNC2H1-E954Khet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DYNC2H1-T1288Ahet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.149 (benign), Testable gene in GeneTests
0.5DYNC2H1-K1413Rhet unknown0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.063 (benign), Testable gene in GeneTests
0.5DYNC2H1-R2871Qhet unknown0.705Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DYNC2H1-A3687Vhet unknown0.292Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZNF480-C3Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MEN1-T546Ahomozygous0.791Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CCDC87-L738Rhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5GLB1L2-G203Dhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5DHDH-S66Nhet unknown0.545Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DHDH-A173Shifthet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5DHDH-V247Ahet unknown0.473Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DHDH-E294Shifthet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CLECL1-S52Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5VWF-V1758Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-D1472Hhet unknown0.312Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-T1381Ahomozygous0.754Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-Q852Rhomozygous0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-H484Rhomozygous0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.83 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5SLCO1B3-S112Ahomozygous0.646Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SLCO1B3-M233Ihomozygous0.659Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.131 (benign)
0.5NINL-R1276Chet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.982 (probably damaging)
0.5NINL-WE958Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LRRK2-R50Hhomozygous0.927Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-S1647Thet unknown0.294Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-M2397Thomozygous0.526Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLCO1B1-N130Dhet unknown0.663Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SLCO1B1-P155Thet unknown0.071Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5WNK1-I736Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-T1056Phomozygous0.838Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-C1506Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-M1808Ihet unknown0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FPR1-E346Ahet unknown0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-V101Lhet unknown0.336Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-I11Thomozygous0.831Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5KRT6B-G499Shet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KRT6B-I365Vhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5LILRA1-V5Lhet unknown0.278Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LILRA1-R12Ghet unknown0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LILRA1-S153Ghet unknown0.180Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LILRA1-L220Phet unknown0.297Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LILRA1-GE261WGhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LILRA1-V387Lhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5C20orf54-I303Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5C20orf54-T278Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5C20orf54-P267Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PEX16-V116Ihomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ESPL1-A25Dhomozygous0.877Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ESPL1-S614Rhomozygous0.609Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.97 (probably damaging)
0.5ESPL1-K1435Mhomozygous0.863Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.961 (probably damaging)
0.5ESPL1-I1488Mhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.937 (probably damaging)
0.5ESPL1-R2037Hhomozygous0.875Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PANK2-G126Ahomozygous0.917Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ERCC2-K751Qhet unknown0.218Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ERCC2-D312Nhet unknown0.145Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.032 (benign), Testable gene in GeneTests with associated GeneReview
0.5KRT5-D197Ehomozygous0.276Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5ZNF587-E189Ahet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.5SIX5-P635Shomozygous0.533Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5SIX5-TS629SThet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SIX5-L556Vhomozygous0.833Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PTPRH-K823Ehomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTPRH-L226Phet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5DMPK-L423Vhomozygous0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375EP300-S697Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375EP300-I997Vhet unknown0.176Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TGFB1-P10Lhet unknown1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ITGB4-L1779Phet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CASP10-L522Ihet unknown0.309Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25UNC13D-K867Ehet unknown0.596Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FMO3-E158Khet unknown0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FMO3-E308Ghet unknown0.104Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.141 (benign), Testable gene in GeneTests with associated GeneReview
0.25NOSTRIN-L407*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25NOSTRIN-G473Ehomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25COG1-N392Shet unknown0.536Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CD3EAP-K428Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CD3EAP-Q504Khet unknown0.284Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign)
0.25TSEN15-G19Dhet unknown0.295Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.932 (probably damaging)
0.25TSEN15-Q59Hhet unknown0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.961 (probably damaging)
0.25PRX-G1132Rhet unknown0.978Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PRX-V882Ahet unknown0.493Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview
0.25LRP2-I4210Lhomozygous0.462Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.993 (probably damaging)
0.25LRP2-K4094Ehet unknown0.744Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25LRP2-A2872Thet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LRP2-N83Shomozygous0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25ITGA6-A380Thet unknown0.253Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SHANK3-I245Thet unknown0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL9A2-Q326Rhet unknown0.403Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLFNL1-R144Thet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.25SLFNL1-E84*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25SLFNL1-A30Thet unknown0.092Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.028 (benign)
0.25GAA-H199Rhet unknown0.574Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GAA-R223Hhet unknown0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GAA-V780Ihet unknown0.720Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25EDARADD-M9Ihet unknown0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NOTCH3-A2223Vhet unknown0.553Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC19A1-H27Rhet unknown0.447Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign)
0.25COL6A2-S399Nhet unknown0.727Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL6A2-R680Hhet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25DNAH14-T43Shet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25DNAH14-F405Lhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25DNAH14-L828Vhomozygous0.710Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH14-K1010Rhomozygous0.617Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH14-R1011Qhomozygous0.674Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH14-N1099Yhet unknown0.677Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH14-M1110Ihomozygous0.663Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH14-K1925Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25DNAH14-N2435Shet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25DNAH14-R2911Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25DNAH14-E3232Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25DNAH14-D3393Ehet unknown0.521Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH14-K3474Ehet unknown0.514Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH14-Q3556Rhet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH14-V3627Ahet unknown0.514Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH14-R3670Khet unknown0.517Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH14-L4096Phet unknown0.544Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH14-F4244Chet unknown0.513Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAH14-K4375Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MUC16-V14466Lhet unknown0.888Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-M13472Thomozygous0.573Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-R13341Hhomozygous0.590Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-I13066Thet unknown0.259Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-V12699Ihet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MUC16-G12695Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MUC16-A12694Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MUC16-S12514Thomozygous0.616Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-E12448Khet unknown0.148Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-E12331Khet unknown0.128Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-V11097Mhomozygous0.468Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-T10155Ihomozygous0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-L10013Phomozygous0.931Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-I9920Thomozygous0.848Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-V9909Ihomozygous0.392Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-H9513Qhomozygous0.410Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-A9502Thomozygous0.483Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-I9213Thomozygous0.846Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-N8301Thomozygous0.873Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-D7923Ahomozygous0.184Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-I7272Vhomozygous0.200Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-I5751Thomozygous0.938Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-H5741Dhomozygous0.826Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-P5537Shomozygous0.805Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-N5228Ihomozygous0.796Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-S5045Phomozygous0.215Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-I4902Vhomozygous0.184Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-H4166Nhomozygous0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-T4077Shomozygous0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-I4034Fhomozygous0.425Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-G3826Ehomozygous0.239Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-T3788Ihomozygous0.238Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-T3723Mhomozygous0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-R3573Hhomozygous0.239Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-V3530Ihomozygous0.240Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-K3506Thomozygous0.247Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-R3499Mhomozygous0.239Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-S3337Lhomozygous0.239Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-S3215Ghomozygous0.240Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-S3190Thomozygous0.677Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-K1400Nhomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC16-V651Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CELSR2-P16PPhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CELSR2-P26Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CELSR2-T631Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25THBD-A473Vhet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TYK2-V362Fhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25HEATR1-E2017Ghet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.181 (benign)
0.25HEATR1-N1967Dhet unknown0.495Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.05 (benign)
0.25HEATR1-V1854Ahet unknown0.464Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HEATR1-N1694Shomozygous0.697Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HEATR1-D1570Ehet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.181 (benign)
0.25HEATR1-S1559Nhet unknown0.218Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25HEATR1-I1102Thet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HEATR1-M607Vhet unknown0.346Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.988 (probably damaging)
0.25HEATR1-A580Thet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HEATR1-H348Rhomozygous0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KLF11-Q62Rhet unknown0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging), Testable gene in GeneTests
0.25ZNF317-Q19Hhet unknown0.108Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ZNF317-Q19Hhet unknown0.108Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25USH2A-M3868Vhet unknown0.131Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25USH2A-E3411Ahet unknown0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25USH2A-I2169Thet unknown0.575Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25USH2A-I2106Thet unknown0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25USH2A-R1486Khet unknown0.646Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview
0.25USH2A-A125Thet unknown0.777Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LHCGR-N312Shomozygous0.573Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25LHCGR-Q18QLQhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25LAMA1-T2634Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25LAMA1-I2076Thet unknown0.319Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LAMA1-A1763Vhet unknown0.131Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LAMA1-M1340Vhet unknown0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.942 (probably damaging)
0.25KCNQ4-H455Qhet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.191 (benign), Testable gene in GeneTests with associated GeneReview
0.25MYH9-I1626Vhet unknown0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FOXK2-A408Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25FOXK2-N518Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25GLI2-A1156Shet unknown0.536Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GLI2-D1306Nhet unknown0.595Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ANKRD30B-P891Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ANKRD30B-N1345Khomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DSG2-R773Khet unknown0.221Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25LEPR-K109Rhet unknown0.332Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.026 (benign), Testable gene in GeneTests
0.25LEPR-Q223Rhet unknown0.569Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.484 (possibly damaging), Testable gene in GeneTests
0.25RAX-D44Ehet unknown0.189Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25AK297906-R233PhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25AK297906-T175Ahet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25AK297906-Q58*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25CPT2-V368Ihet unknown0.477Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MCEE-A76Vhet unknown0.177Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CFHR1-H157Yhet unknown0.169Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CFHR1-L159Vhet unknown0.473Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CFHR1-E175Qhet unknown0.518Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DOK7-H113Phet unknown0.183Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DOK7-R120Qhet unknown0.146Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DOK7-T137Ihet unknown0.177Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25B3GALTL-E370Khet unknown0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.25LRP4-R1646Qhomozygous0.550Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LRP4-S1554Ghomozygous0.312Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LRP4-I1086Vhomozygous0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LRP4-E222Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MYBPC3-S236Ghet unknown0.079Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MYBPC3-V189Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FAM20C-I320Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25FAM20C-N564Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PARK2-V380Lhet unknown0.169Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GARS-P42Ahet unknown0.654Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ALX4-P102Shet unknown0.217Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ALX4-R35Thet unknown0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25TRIM5-A168Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TRIM5-H43Yhet unknown0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ABCC8-A1369Shet unknown0.755Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GLI3-P998Lhet unknown0.444Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GLI3-T183Ahet unknown0.663Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TXNDC3-C208Rhet unknown0.740Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TXNDC3-I493Thet unknown0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.074 (benign), Testable gene in GeneTests with associated GeneReview
0.25PLG-D472Nhet unknown0.151Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MYO7A-S1666Chet unknown0.610Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MYO7A-L1954Ihet unknown0.552Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LMBRD1-D469Ehet unknown0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25PLA2G7-V379Ahomozygous0.721Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.816 (possibly damaging)
0.25PLA2G7-I198Thet unknown0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign)
0.25PLA2G7-R92Hhet unknown0.252Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KIF6-W719Rhet unknown0.538Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.01 (benign)
0.25CTLA4-T17Ahet unknown0.463Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign)
0.25COL9A1-Q621Rhet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL9A1-S339Phet unknown0.507Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CELA1-L210Shifthet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25CELA1-M59Vhet unknown0.142Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.24 (possibly damaging)
0.25CELA1-Y5Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CELA1-V3Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25DPAGT1-I393Vhet unknown0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SNX19-L878Rhet unknown0.808Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SNX19-N753Shet unknown0.617Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SNX19-L618Fhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SNX19-V361Lhet unknown0.671Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25EYA4-G277Shet unknown0.467Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25COL2A1-G1405Shet unknown0.187Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL2A1-T9Shet unknown0.598Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PRSS35-K198Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PRSS35-R224Qhomozygous0.958Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.25TH-V108Mhet unknown0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PON1-Q192Rhet unknown0.572Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.25PON1-L55Mhet unknown0.230Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.25TG-S734Ahet unknown0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TG-M1028Vhet unknown0.696Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25TG-D1312Ghet unknown0.344Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TG-D1838Nhet unknown0.304Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.061 (benign), Testable gene in GeneTests
0.25TG-W2501Rhet unknown0.566Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.031 (benign), Testable gene in GeneTests
0.25C10orf68-I39VhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C10orf68-G388AhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C10orf68-K493Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25C10orf68-V607IhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25RET-G691Shet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.16 (benign), Testable gene in GeneTests with associated GeneReview
0.25ERCC6-Q1413Rhet unknown0.145Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.25ERCC6-R1213Ghet unknown0.159Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25ERCC6-M1097Vhet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TSNARE1-S314Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TSNARE1-V268Ihet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25TSNARE1-T118Ahet unknown0.622Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TSNARE1-R55Phet unknown0.378Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TSNARE1-F18Lhet unknown0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GPT-H14Nhet unknown0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MUSK-S159Ghet unknown0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25MUSK-M413Ihet unknown0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.25FKTN-R203Qhet unknown0.177Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.166 (benign), Testable gene in GeneTests with associated GeneReview
0.25ROR2-V819Ihet unknown0.798Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ROR2-T245Ahet unknown0.619Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MASTL-P620Ahet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.923 (probably damaging), Testable gene in GeneTests
0.25PTF1A-S263Phet unknown0.654Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests
0.25TMEM67-I604Vhet unknown0.710Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NBN-E185Qhet unknown0.338Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NOS3-D298Ehet unknown0.844Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ARMS2-R3Hhet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ARMS2-R38*het unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation, Testable gene in GeneTests
0.25RELN-L997Vhet unknown0.108Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.25 (possibly damaging), Testable gene in GeneTests
0.25RELN-V240Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MUC5AC-L185Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MUC5AC-S221Rhomozygous0.221Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC5AC-V497Ahomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC5AC-E660Ghet unknown0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC5AC-R677Whet unknown0.196Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC5AC-P2165Lhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MUC5AC-M2832Thet unknown0.794Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC5AC-M3452Thet unknown0.312Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC5AC-F3655Shet unknown0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC5AC-T3714Mhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MUC5AC-T3867Ahet unknown1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUC5AC-V4403Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MUC5AC-V4437Ihet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MLL3-C1114Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MLL3-R1092*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25MLL3-S772Lhet unknown1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.45 (possibly damaging)
0.25CALHM1-L86Phet unknown1.000Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PCDH15-S19Ahet unknown0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.25RP1-N985Yhet unknown0.206Unknown
benign
Low clinical importance,
uncertain
Probably benign. One report linked this variant to high triglycerides, but a later paper found a nearby SNP with similar association and suggests that both findings are caused by linkage to an undiscovered causal variant.
0.25RP1-C2033Yhet unknown0.186Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests
0.25CDH23-S494Nhet unknown0.273Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDH23-V1672Ihet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDH23-T1996Shet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SFTPC-S186Nhet unknown0.222Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FAM35A-F132Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25FAM35A-K140Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25FAM35A-S550Chet unknown0.246Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.588 (possibly damaging)
0.25FAM35A-E551Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25FAM35A-I670Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25TULP1-K261Nhet unknown0.805Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TULP1-I259Thet unknown0.344Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TULP1-T67Rhet unknown0.877Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25IL4R-I75Vhet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25IL4R-S436Lhet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.009 (benign)
0.25IL4R-S503Phet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.743 (possibly damaging)
0.25IL4R-Q576Rhet unknown0.405Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.25IL4R-S752Ahet unknown0.191Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.328 (possibly damaging)
0.25FANCA-T266Ahet unknown0.708Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25IQCB1-C434Yhet unknown0.198Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.25MYH15-R1689Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MYH15-T1125Ahet unknown0.180Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.007 (benign)
0.25MYH15-H504Yhomozygous0.578Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.997 (probably damaging)
0.25MYH15-R454Qhet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.25NLRP1-M1184Vhet unknown0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NLRP1-V1059Mhet unknown0.165Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.25NLRP1-L155Hhet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.064 (benign)
0.25LRRC50-K393Rhet unknown0.321Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.683 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25LRRC50-P502Lhet unknown0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.25LRRC50-L659Vhet unknown0.112Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25PKD1L2-L2414Fhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PKD1L2-M2313Ihomozygous0.883Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-G2257Dhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PKD1L2-S2207Thet unknown0.985Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-S2207Thet unknown0.985Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-S2137Fhomozygous0.870Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-L2117Ihet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Y2079Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PKD1L2-Q2035Rhet unknown0.210Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-M1866Vhomozygous0.957Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-G1847Rhet unknown0.373Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Q1701Hhet unknown0.294Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-S1665Yhet unknown0.114Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-K1575*het unknown0.110Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.25PKD1L2-N1330Dhomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-S1326Phomozygous0.734Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-T1048Ahet unknown0.679Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Q999Hhet unknown0.266Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-R998Chet unknown0.262Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-L711Phet unknown0.805Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-R636Hhet unknown0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-P512Lhet unknown0.751Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-K416Qhet unknown0.788Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-P301Ahet unknown0.524Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-R252Whet unknown0.560Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-N236Shifthet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25PKD1L2-E221Ghet unknown0.708Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-V183Ihet unknown0.212Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TRIM15-I29Vhet unknown0.222Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.016 (benign)
0.25TRIM15-S324Nhet unknown0.155Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLC12A3-A264Ghomozygous0.976Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC12A3-A728Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GCSH-S21Lhet unknown0.750Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MCCC1-S724Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MCCC1-H464Phomozygous0.408Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AIPL1-D90Hhet unknown0.210Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.029 (benign), Testable gene in GeneTests with associated GeneReview
0.25ATXN7-K264Rhet unknown0.103Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.949 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25JUP-M697Lhet unknown0.520Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25C2orf83-W141*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25C2orf83-E104Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ATIC-T116Shet unknown0.184Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign)
0.25CPS1-T344Ahet unknown0.583Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25COL6A3-T3069Ihet unknown0.364Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL6A3-A3012Phet unknown0.843Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL6A3-M2927Thet unknown0.674Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FANCD2-P714Lhet unknown0.246Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PXK-I461Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PXK-K481Rhet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.25PXK-A535Vhet unknown0.292Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FLNB-D1157Nhet unknown0.538Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25FLNB-V1471Mhet unknown0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.02 (benign), Testable gene in GeneTests with associated GeneReview
0.25MPDU1-A229Thet unknown0.188Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LRRC48-R191Whomozygous0.578Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LRRC48-R444Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ARHGEF15-L277Phomozygous0.664Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ARHGEF15-R656Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ARHGEF15-S831Phet unknown0.596Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ABCC12-R1117Chomozygous0.551Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ABCC12-V850Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ABCC12-Q831*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25NHLRC1-P111Lhet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25C5orf20-R117*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25C5orf20-N97Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C5orf20-T75Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ATXN3-V212Mhet unknown0.358Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25EVC2-A883Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EVC2-T699Ahet unknown0.584Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.009 (benign), Testable gene in GeneTests
0.25EVC2-S230Ghet unknown0.231Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.121 (benign), Testable gene in GeneTests
0.25ZNF204P-E93Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ZNF204P-K6Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PCDHB7-V389Lhet unknown0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PCDHB7-E632*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25PCDHB7-R716Whet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.963 (probably damaging)
0.25TCOF1-A1353Vhet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NSD1-V614Lhet unknown0.216Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NSD1-S726Phet unknown0.231Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.92 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25TEP1-I2486Mhet unknown0.373Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TEP1-V2214Ihet unknown0.326Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TEP1-S1195Phet unknown0.703Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TEP1-R1055Chet unknown0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NIPAL4-R213Ghet unknown0.505Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25PYGL-V222Ihet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.336 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25XRCC3-T241Mhet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.188 (benign)
0.25VCAN-K1516Rhet unknown0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25VCAN-R1826Hhet unknown0.349Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25VCAN-F2301Yhet unknown0.462Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25VCAN-D2937Yhet unknown0.352Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview
0.25CPB2-I347Thomozygous0.814Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CPB2-A169Thet unknown0.345Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CPB2-A115Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CPB2-P113Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25TPSB2-P151Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TPSB2-T141Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25UGT2B7-Y268Hhet unknown0.727Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25UCHL1-S18Yhet unknown0.111Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.029 (benign)
0.25SLC28A1-L140LVhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLC28A1-V189Ihet unknown0.313Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLC28A1-Q237Khet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC28A1-D521Nhet unknown0.226Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MTRR-S202Lhet unknown0.285Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SPG11-F463Shet unknown0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC28A2-P22Lhet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC28A2-S75Rhet unknown0.253Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25GATM-Q110Hhet unknown0.651Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC24A1-T37Shet unknown0.322Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC24A1-S331Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0SERPINA1-E288Vhet unknown0.047Recessive
pathogenic
Low clinical importance,
well-established
This variant represents the PiS variant in alpha-1-antitrypsin deficiency where a homozygous individual has 60% enzymatic activity. This variant alone is unlikely to much effect, but 3-4% of heterozygotes are compound heterozygous with the more severe PiZ variant, which is associated with an increased risk of emphysema and COPD.
0GNPTAB-D467Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0ALG3-F200Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0MBL2-G54Dhet unknown0.102Recessive
pathogenic
Low clinical importance,
likely
This variant is associated with mannose binding protein deficiency which leads to impaired complement system immune response to mannose-rich pathogens. Patients homozygous for this allele or compound heterozygous are likely to have increased susceptibility to infection, but Hellemann et al. report heterosis for intensive care outcomes in heterozygous subjects. The wild-type version of this gene is known as variant allele A, while this is called variant allele B. See R52C (variant D) and G57E (variant C).

Input file format: CGIVAR

Genome build: b37

Genome coverage: 2,773,720,490 bases (97.0% of callable positions, 90.0% of total positions)

Coding region coverage: 32,947,887 bases (99.0% of all genes, 99.5% of genes with clinical testing available)

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

Gene search

"GENE" or "GENE A123C":

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