anonymous WGS - GET-Evidence variant report

Variant report for anonymous WGS

Log file: 




VariantClinical
Importance
ImpactAllele
freq
Summary
1APOE-C130RHighWell-establishedWell-established pathogenic

Complex/Other, Heterozygous
0.135392This is generally known as the ApoE4 allele of ApoE and is associated with increased risk of Alzheimer's. 20-25% of individuals are heterozygous for this variant, and 1-2% are homozygous. Data from Khachaturian et al. suggests an average 7% of all individuals developed Alzheimer's by the age of 80; when this is split by ApoE4 status: 10% of ApoE4 heterozygotes (3% increased attributable risk), 40% of ApoE4 homozygotes (33% increased attributable risk), and 5% of non-carriers (2% decreased attributable risk). Notably, their model suggests 70-75% of people would eventually develop Alzheimer's by the age of 100 regardless of ApoE4 genotype (and 25-30% are resistant, regardless of genotype), but that ApoE4 variants shift the disease onset to occur significantly earlier (4 years earlier for heterozygous carriers, 13 years for homozygotes).1
2FLG-R501XModerateWell-establishedWell-established pathogenic

Recessive, Carrier (Heterozygous)
0.0133854Causes ichthyosis vulgaris in a recessive manner (sometimes homozygously, and sometimes compound heterozygously combined with another deleterious variant in this gene). Heterozygous carriers may be very prone to atopic dermatitis (a type of eczema) with moderately high penetrance (30-50% of carriers having symptoms according to Palmer et al.).1
3C3-R102GModerateLikelyLikely pathogenic

Complex/Other, Homozygous
0.152073This variant (also called C3F) is common in Europeans (10.2% allele frequency), and is associated with age-related macular degeneration. In the US, 1.5% of adults over 40 have the disease, but the incidence increases strongly with age (>15% in women over 80). Assuming an average lifetime risk of ~10%, heterozygous individuals have a ~13% risk and homozygous have ~20%.1
4PPARG-P12AModerateUncertainUncertain not reviewed

Unknown, Heterozygous
0.08867821
5BTD-D444HLowWell-establishedWell-established pathogenic

Recessive, Carrier (Heterozygous)
0.0298383This variant is implicated in partial and profound biotinidase deficiency. Alone, this variant is estimated to have a 52% loss of enzymatic activity. This variant is often found with A171T, and together they are reported to cause profound deficiency. Notably there is a report of asymptomatic double-mutant adults, so symptoms may have variable penetrance. This variant is found compound heterozygously with more serious mutations in cases of partial biotinidase deficiency.1
6COL4A1-Q1334HLowLikelyLikely pathogenic

Dominant, Heterozygous
0.324689This common variant has been associated with arterial stiffness and, in Japanese, a small increased risk of myocardial infarction (MI, a.k.a. heart attack). This last observation supported a dominant effect for this variant and, assuming a lifetime risk of 15% for MI, we estimate carriers have an additional risk of 0.5-3%.1
7rs5186LowLikelyLikely 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
8WFS1-R611HLowUncertainUncertain not reviewed

Recessive, Homozygous
0.400446This nonsynonymous SNP is associated with Wolfram Syndrome (known as DIDMOAD), which is characterized by early-onset non-autoimmune diabetes mellitus, diabetes insipidus, optic atrophy, and deafness) and to adult Type Two Diabetes Mellitus. The WFS1 gene maps to chromosome 4p16.3. The variant has been shown to be statistically associated with type II diabetes in six UK studies and one study of Ashkenazi Jews (Sandhu, M., et al., Minton et al.).1
9RNASEL-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
10LRP5-A1330VLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.110367In a study of a UK population this variant was associated with a small increased risk of osteoporosis and osteoporotic bone fractures, with each copy of the variant presumed to have an additive effect. A study in Chinese young men failed to find an association with peak bone density. 1
11TGIF1-P83ShiftLowUncertainUncertain pathogenic

Complex/Other, Homozygous
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
12POLG-Q1236HLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.0581893Generally a nonpathogenic polymorphism, but may have a modifier effect that increases severity when combined in cis with other pathogenic variants.1
13ELAC2-S217LLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.273471Reported to be associated with increased susceptibility to prostate cancer, but later studies weaken the hypothesis. Xu et al.'s meta-analysis concludes that there is a small but significant increased risk (OR = 1.13). Assuming a lifetime risk of 16% for prostate cancer we calculate this leads to an increased risk of ~1.5% (17.5% total).1
14ACAD8-S171CLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.018312This variant (a.k.a S149C) was found as a compound heterozygote (with M130T) in a male newborn of European descent with isobutyryl-CoA dehydrogenase deficiency (identified by newborn screening). Lack of controls means that significance cannot be established and allele frequency cannot be estimated. Oglesbee et al. comment that IBD-deficiency may be relatively benign, most cases identified by newborn screening have remained asymptomatic, but Ferreira et al. report a symptomatic individual homozygous for this variant.1
15HFE-H63DLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.109965There have been some hypotheses that this variant contributes to causing hereditary hemochromatosis, possibly as a compound heterozygote, but some others treat it as a polymorphism. Cys282Tyr is the classic causal variant and itself has very low penetrance. Mouse studies indicates this variant has a similar but weaker effect; if it has any effect at all its penetrance may be quite low and/or require modifier alleles.1
16TP53-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
17SP110-L425SLowUncertainUncertain pathogenic

Unknown, Heterozygous
0.863357This variant is associated with a slightly increased risk of tuberculosis. It is unclear whether it is itself causal, or in linkage disequilibrium with some other causal variant that has a stronger effect.1
18CYP2C9-R144CModerateWell-establishedWell-established pharmacogenetic

Unknown, Heterozygous
0.0970982This variant, also called CYP2C9*2, is a pharmacogenetic variant that modulates sensitivity for Warfarin (due to reduced metabolism). This variant is associated with Caucasians. The FDA has approved reduced recommended Warfarin dosage based on the presence of this variant.1
19TPMT-Y240CLowWell-establishedWell-established pharmacogenetic

Complex/Other, Heterozygous
0.0461825Alone, this variant is known as TPMT*3C -- but often, especially in Caucasians, it is found together with another nonsynonymous variant (A154T) to produce the TPMT*3A variant. Both variants are associated with loss of thiopurine methyltransferase (TPMT) activity, although *3C is milder than *3A. Inability to metabolize thiopurine drugs can lead to severe adverse reactions. Heterozygotes may be advised to take a reduced dosage due to reduced metabolism of the drug.1
20TPMT-A154TLowLikelyLikely pharmacogenetic

Recessive, Carrier (Heterozygous)
0.0280774Usually this variant is found in combination Y240C, forming the TPMT*3A variant. When alone, this variant produces the *3B variant. Both variants are associated with loss of thiopurine methyltransferase (TPMT) activity. Inability to metabolize thiopurine drugs can lead to severe adverse reactions. Heterozygotes may be advised to take a reduced dosage due to reduced metabolism of the drug.1
21ABCC6-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
22rs1544410LowUncertainUncertain 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
23FUT2-W154XModerateWell-establishedWell-established protective

Recessive, Homozygous
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
24KCNJ11-K23ELowLikelyLikely protective

Unknown, Homozygous
0.738148This variant is associated with decreased risk of type 2 diabetes. It is unclear whether this variant has additive effects, or acts in a dominant or recessive manner. Assuming diabetes has a lifetime risk of 36%, we estimate a decreased risk of around 1-2% per copy of this variant.1
25IL7R-T244ILowLikelyLikely protective

Unknown, Heterozygous
0.210169The reference genome variant for this allele has been associated with a slight increased risk of multiple sclerosis. Thus, this variant can be treated as a "protective" variant -- carriers of this variant are slightly less likely to have MS. Because the disease is rare and the effect of this variant is not very strong, the absolute decreased risk for carriers of this variant is less than .05% (less than 1 in 2000).1
26LIG4-A3VLowUncertainUncertain protective

Dominant, Heterozygous
0.035843One report has associated this with a decreased risk of multiple myeloma.1
27IRS2-G1057DLowUncertainUncertain protective

Unknown, Heterozygous
0.232615a.k.a Gly1057Asp, insulin receptor substrate-2 IRS2. The rs1805097(G) allele is associated with the Gly, and the (A) allele with Asp. A longevity study concluded that rs1805097(A;A) individuals were about twice as likely to live over 85 y/o (odds ratio 2.03, CI:1.39-2.99, p = .0003). 1
28ARSA-N350SLowWell-establishedWell-established benign

Unknown, Heterozygous
0.183199This common variant (HapMap 24.1% allele frequency) causes a loss of a glycosylation site (affecting the size of the protein when studied with gel electrophoresis) but does not affect enzyme activity or stability.1
29COL6A3-D2831HLowLikelyLikely benign

Unknown, Heterozygous
0.0678565Probably benign, reported by Pan et al. as a presumed-nonpathogenic variant in the gene.1
30PMS2-P470SLowLikelyLikely benign

Unknown, Homozygous
0.374884Benign, common variant.1
31MLH1-I219VLowUncertainUncertain benign

Dominant, Heterozygous
0.239822Computational evidence, functional assays, and case/control studies suggest this variant is probably benign.1
32LOXL1-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
33PCSK9-G670ELowUncertainUncertain benign

Unknown, Homozygous
0.888269This variant is likely benign. 1
34PALB2-E672QLowUncertainUncertain benign

Unknown, Heterozygous
0.0244469Probably benign.1
35GUCY2D-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
36APOB-Y1422CLowUncertainUncertain benign

Unknown, Homozygous
0.999628This position is almost certainly an error in the HG18 reference sequence. 1
37COL5A2-P460SLowUncertainUncertain benign

Unknown, Heterozygous
0.0400632Tentatively benign. Although predicted to be damaging by Polyphen 2, this variant is seen in 2 out of 62 PGP & public genomes. OMIM lists other more disruptive variants (frameshift & nonsense) as reported to cause Ehlers-Danlos syndrome when homozygous.1
38SDHB-S163PLowUncertainUncertain benign

Unknown, Heterozygous
0.0104109We evaluate as uncertain but presumed benign. One report linked this variant to Cowden-like syndromes, but the significance of their findings is unclear and other reports treat this as a non-pathological variation.1
39PTCH1-P1315LLowUncertainUncertain benign

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

Unknown, Homozygous
0.691764Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma.1
41TAS2R38-A49PLowUncertainUncertain benign

Unknown, Heterozygous
0.431121This variant is strongly associated with causing the "taster" phenotype of phenylthiocarbamine (PTC) in a dominant manner.1
42TPCN2-G734ELowUncertainUncertain benign

Unknown, Heterozygous
0.286166Pigmentation allele.1
43TYR-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
44ENPP1-R774CLowUncertainUncertain benign

Unknown, Heterozygous
0.0258412Tentatively classified as benign. Initially reported as a recessive cause of infantile arterial calcification, but with no statistical significance. Other variants have been implicated as causal in these cases this variant. 5% allele frequency in caucasians contradicts this variant as having any highly pathogenic effect.1
45RP1-N985YLowUncertainUncertain benign

Unknown, Homozygous
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
46TAS2R38-I296VLowUncertainUncertain benign

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

Exome coverage: 32873673 / 33212919 = 98.98%

GeneChromosomeCoverageMissingLengthMissing regions
1AGRN10.959270120560442506138955553-955623, 955630-955639, 955645-955655, 955661-955665, 976213-976229, 976231, 976234, 976237-976238, 976243-976250, 981931-981933, 983602, 983614-983687, 983690, 983697-983713, 983720-983745, 986833-986834
2GABRD10.974981604120683413591950863, 1950866-1950893, 1950913-1950915, 1950920-1950921
3ESPN10.8760233918128731825656488301-6488336, 6488381, 6488389, 6488426-6488432, 6500362-6500392, 6500709-6500715, 6500864-6500868, 6505776-6505820, 6505851-6505856, 6505888-6505920, 6508727-6508766, 6508828-6508857, 6508881-6508888, 6508922-6508928, 6511703-6511709, 6511907-6511933, 6512127-6512133, 6517286-6517305
4PLEKHG510.981185324553156031896534089-6534115, 6534122-6534123, 6534126-6534129, 6534513, 6534520, 6534525-6534530, 6534536, 6534547-6534553, 6534637-6534641, 6534646-6534647, 6557380-6557383
5KIF1B10.9975531714662113531310357055, 10425572, 10425575-10425585
6PEX1410.998236331569662113410684445, 10684448
7TARDBP10.9887550200803214124511082299-11082305, 11082356-11082362
8CLCNKA10.9932170542635714206416358268-16358274, 16360141-16360147
9CLCNKB10.996608527131787206416383399-16383405
10ATP13A210.9968952864803811354317313606-17313610, 17322611-17322616
11PINK110.999427262313861174620960078
12HSPG210.99438372799029741317622213817-22213827, 22263648-22263710
13WNT410.9270833333333377105622469339-22469415
14SEPN110.89028776978417183166826126722-26126904
15HPCA10.99828178694158158233359424
16KCNQ410.997126436781616208841249766-41249770, 41249930
17MPL10.99790356394134190843805648-43805651
18DHCR2410.9838813668600925155155352579-55352589, 55352596, 55352598-55352610
19ALG610.9745098039215739153063885042-63885080
20LEPR10.999714122355631349866083686
21CTH10.99917898193761121870883651
22RPL510.99888143176734189493307411
23DPYD10.9938271604938319307897847949-97847961, 97847979, 97847985, 98144720, 98144733, 98144735-98144736
24AGL10.99760817569037114599100327882-100327889, 100377961-100377963
25DBT10.98826777087647171449100701008, 100701019, 100701053-100701067
26COL11A110.957485798057542325457103364222-103364329, 103364535-103364550, 103380300-103380332, 103427754-103427758, 103427763, 103427774-103427777, 103427792-103427793, 103435793-103435799, 103435810-103435828, 103470188-103470217, 103471624-103471627, 103471861-103471863
27GSTM110.989345509893467657110235885-110235891
28NOTCH210.976402373247031757416120539665-120539714, 120539742, 120539778-120539784, 120539913-120539919, 120539933-120539955, 120547962-120547968, 120548022-120548058, 120548091-120548097, 120572544-120572575, 120611964, 120612003-120612004, 120612006
29PRPF310.9985380116959132052150316972-150316974
30FLG10.9487116363039662512186152276235-152276263, 152276279-152276285, 152276365-152276407, 152276473-152276493, 152276583, 152276598, 152276616, 152276626-152276628, 152276671, 152276696-152276729, 152276761-152276762, 152276770, 152276772, 152276777, 152276782, 152276871, 152276889, 152276907, 152277014, 152277021, 152277027, 152277035, 152277044, 152277055, 152277082-152277110, 152277717, 152277876-152277887, 152278047-152278049, 152278409-152278437, 152278689, 152278811-152278817, 152278853-152278859, 152279016-152279043, 152279380-152279409, 152279524-152279530, 152279743, 152279848, 152280347, 152280468-152280474, 152280556-152280576, 152280594-152280617, 152280733-152280762, 152280782, 152280788, 152280864, 152280900, 152281225-152281231, 152281287-152281307, 152281520-152281537, 152281632-152281649, 152281690, 152281895-152281921, 152281945-152281951, 152283364-152283370, 152283407-152283433, 152284149-152284155, 152284200-152284217, 152284421-152284453, 152284811-152284817, 152285134-152285140, 152285185-152285191, 152285422-152285428, 152285999-152286005
31GBA10.9950341402855481611155208002-155208009
32PKLR10.9959420289855171725155269977, 155269983, 155269991-155269995
33NTRK110.99456294437474132391156830771-156830783
34KCNJ1010.9982456140350921140160012061-160012062
35TBX1910.997772828507831347168274314-168274316
36F510.9989513108614276675169510338-169510344
37MYOC10.998019801980231515171605740-171605742
38DARS210.9994840041279711938173802583
39HMCN110.998639697184762316908186043873-186043885, 186050351-186050360
40CFH10.98755411255411463696196658692-196658722, 196658743-196658744, 196706707-196706717, 196706728-196706729
41CFHR510.98947368421053181710196953091, 196953133-196953141, 196953144-196953149, 196953182, 196967265
42USH2A10.998910884745981715609215916519-215916525, 215916556, 215916564-215916572
43LBR10.99567099567181848225607425-225607432
44GJC210.98106060606061251320228346061-228346063, 228346066, 228346078-228346098
45ACTA110.98500881834215171134229567918-229567932, 229568017-229568018
46LYST10.991671050324399511406235850325-235850332, 235875407-235875455, 235896822, 235897881, 235916484-235916492, 235944309-235944312, 235950528-235950546, 235950549-235950552
47MTR10.9997367035281713798237048421
48RYR210.995370370370376914904237656380, 237821244-237821309, 237821322, 237824127
49FH10.99347684279191101533241661166, 241661181, 241669377-241669378, 241669388-241669393
50DCLRE1C100.9966329966337207914981847-14981853
51PDSS1100.9847756410256419124826994215-26994224, 26994249-26994255, 27024506-27024507
52RET100.9829596412556157334543572707-43572722, 43572728-43572768
53ERCC6100.999107541276224448250738821, 50740809-50740811
54CHAT100.93724966622163141224750822269, 50822274-50822413
55PCDH15100.9920190185090847588955587211-55587215, 55587226-55587245, 55719557, 56138655-56138656, 56138662-56138679, 56138686
56VCL100.999412628487522340575874621-75874622
57LDB3100.999542124542121218488476191
58BMPR1A100.999374609130711159988683146
59GLUD1100.988670244484219167788836362-88836380
60PTEN100.99504950495056121289720651-89720652, 89720799-89720802
61LGI1100.997610513739554167495552557-95552560
62HPS1100.9995251661918312106100177377
63ABCC2100.99655023717119164638101567163-101567178
64HTRA1100.96812196812197461443124221169-124221201, 124221206-124221217, 124221222
65ACADSB100.98768283294842161299124800127-124800138, 124810657-124810660
66OAT100.996969696969741320126100640-126100643
67SLC25A22110.993827160493836972792611, 792628-792631, 792635
68PNPLA2110.99669966996751515819719-819721, 819817, 819870
69CTSD110.99919289749798112391785089
70CDKN1C110.94321766561514549512905948-2905976, 2906068, 2906100-2906105, 2906111, 2906117-2906122, 2906133, 2906136, 2906231, 2906403-2906410
71HBD110.9842342342342374445255652-5255658
72USH1C110.9929629629629619270017531273-17531276, 17531309, 17531312-17531321, 17531327-17531330
73ANO5110.9679066374908888274222276981-22277068
74PAX6110.995271867612296126931811482-31811487
75WT1110.99935649935651155432456654
76PDHX110.9827357237715826150634938356-34938362, 34982033-34982035, 34991776-34991782, 34999717-34999724, 34999728
77SERPING1110.999334664005321150357365766
78SLC22A12110.9933814681107111166264367266-64367268, 64367271-64367278
79BBS1110.998877665544332178266299432-66299433
80TCIRG1110.998395507420784249367810266-67810269
81LRP5110.9898927392739349484868080197-68080201, 68080212-68080246, 68080261-68080269
82IGHMBP2110.9919517102615724298268704532-68704555
83DHCR7110.994397759103648142871146572-71146579
84MYO7A110.99984957882071664876922295
85DYNC2H1110.9803785245268425412945102984319, 102984322, 102984340-102984343, 102984399, 102984405, 102984408-102984413, 102991461-102991505, 102991529-102991531, 103018501-103018502, 103018507-103018512, 103018522, 103018527, 103023009-103023014, 103024151, 103025260, 103029467-103029485, 103043831-103043835, 103043838, 103043841-103043881, 103043900-103043901, 103043955, 103043972-103043979, 103049755, 103049840, 103049843, 103052516, 103052545, 103057087-103057090, 103059226-103059231, 103059234, 103059281-103059301, 103059312-103059316, 103062246-103062255, 103070140, 103082633-103082662, 103106449, 103107167-103107176, 103130687, 103194651, 103194654
86ATM110.980045796532551839171108098384-108098411, 108098503, 108098603-108098615, 108126955-108126956, 108126973, 108126978, 108126998-108127010, 108127013-108127052, 108127059, 108127062, 108164160-108164173, 108196073, 108196094, 108196176-108196191, 108204631-108204680
87RDX110.9994292237442911752110126055
88DLAT110.9963991769547371944111910031-111910035, 111910038-111910039
89SDHD110.985416666666677480111965597-111965603
90ROBO3110.9971160778659124161124747500-124747511
91WNK1120.9997202405930927149968539, 968548
92CACNA1C120.99878067367779865612714888, 2794934-2794940
93VWF120.990878938640137784426127887-6127894, 6127919, 6127943, 6131925-6131932, 6131955-6131982, 6132003-6132033
94ATN1120.991323817520293135737045600, 7045603-7045604, 7045910-7045931, 7046321-7046324, 7050617-7050618
95GYS2120.9715909090909160211221712025-21712077, 21716237-21716243
96ABCC9120.9963440860215117465021962861-21962864, 21997743-21997754, 22068663
97LRRK2120.98523206751055112758440645125-40645128, 40645132-40645134, 40645138-40645140, 40645153, 40645161-40645164, 40653304, 40677839-40677846, 40687347, 40761446-40761450, 40761458-40761467, 40761470-40761509, 40761520-40761551
98IRAK4120.999276934201011138344171509
99COL2A1120.997983870967749446448376368-48376376
100MLL2120.9989767665824171661449426571-49426573, 49427255-49427256, 49427270-49427274, 49427664-49427670
101ACVRL1120.999338624338621151252314547
102KRT81120.9894598155467716151852684020-52684027, 52684898-52684905
103KRT86120.9794661190965130146152696045-52696052, 52696927-52696934, 52699030-52699036, 52699545-52699551
104KRT83120.998650472334682148252710279, 52710309
105KRT6B120.9451327433628393169552841338-52841344, 52843578-52843584, 52844243, 52844246, 52844265, 52844355-52844358, 52844366-52844381, 52845397-52845403, 52845527-52845534, 52845598-52845604, 52845662-52845687, 52845713-52845719, 52845801
106KRT6C120.9728613569321546169552865903, 52865906, 52865918, 52865925, 52867056-52867062, 52867105, 52867186-52867193, 52867257-52867263, 52867324, 52867339-52867342, 52867413-52867419, 52867457-52867463
107KRT6A120.9569321533923373169552881868-52881874, 52882264-52882270, 52885494-52885499, 52886553-52886559, 52886638-52886644, 52886708-52886714, 52886772-52886796, 52886908-52886914
108KRT1120.996382428940577193553069321-53069327
109RDH5120.99582027168234495756115602-56115605
110SUOX120.9896214896214917163856398164-56398180
111GNS120.999397227245331165965141683
112LEMD3120.998538011695914273665612389-65612392
113CEP290120.98427419354839117744088454613, 88454616-88454621, 88471474-88471475, 88471498-88471503, 88472869, 88472953-88472959, 88490726-88490733, 88490738, 88505504-88505510, 88505538, 88505544-88505546, 88505551-88505552, 88505560-88505561, 88512447, 88513929-88513932, 88514016, 88519066-88519068, 88520093-88520110, 88522723-88522745, 88522755-88522771, 88522786-88522788
114GNPTAB120.9997348183505713771102151062
115ATXN2120.97894469812278833942112036736-112036737, 112036747-112036803, 112036807-112036819, 112036914, 112036917, 112036921-112036922, 112036926-112036929, 112036932, 112036937, 112037131
116PUS1120.9992211838006211284132426014
117RB1130.9931826336562619278748916817, 48921995, 48923127-48923135, 48947544-48947545, 48947548-48947551, 48947557, 48947567
118EDNRB130.9789315274642628132978474726-78474753
119SLITRK1130.998087039693934209184453765-84453766, 84453774, 84453777
120ZIC2130.95997498436523641599100634397-100634411, 100637804-100637811, 100637817-100637819, 100637825-100637827, 100637829-100637858, 100637903-100637907
121TEP1140.999365804160325788420859859-20859863
122PABPN1140.8479913137893614092123790683, 23790686-23790710, 23790714-23790719, 23790837-23790858, 23790867-23790937, 23790951-23790957, 23791008, 23791023-23791029
123MYH7140.9958677685950424580823889395-23889401, 23891404-23891420
124FOXG1140.80340136054422289147029236662-29236950
125COCH140.995160314579558165331346877-31346884
126FANCM140.9869855213925580614745623952, 45623962-45624025, 45636188-45636194, 45667889-45667896
127C14orf104140.998408910103424251450092505, 50092510-50092512
128SYNE2140.99835939007914342072464447764-64447767, 64447774, 64457782, 64461852-64461855, 64467281-64467294, 64518311, 64522807, 64589024-64589031
129ZFYVE26140.99908136482947762068244313-68244319
130ESRRB140.998690242305172152776964683, 76964686
131VIPAR140.997300944669374148277894729-77894731, 77894761
132SPATA7140.997777777777784180088883148, 88883162, 88883175-88883176
133TTC8140.994186046511639154889305826, 89343647, 89343650-89343654, 89343669, 89343673
134ATXN3140.9898710865561711108692537359, 92537365-92537369, 92549592-92549594, 92559639, 92559651
135VRK1140.9655751469353541119197304099, 97304115-97304154
136AMN140.9955947136563961362103396593-103396594, 103396602, 103396611-103396613
137INF2140.933866666666672483750105173754-105173773, 105173863-105173874, 105173909-105174124
138NIPA1150.8202020202020217899023086234-23086411
139UBE3A150.9893455098934628262825616251-25616257, 25616566-25616572, 25616620-25616626, 25616812-25616818
140TRPM1150.998545303408157481231320562-31320567, 31320587
141CHST14150.995579133510175113140763782-40763786
142TTBK2150.997858099062928373543109249, 43164846-43164848, 43164856-43164859
143STRC150.9831081081081190532843893132-43893138, 43897544-43897560, 43908070-43908087, 43910209-43910215, 43910863-43910903
144STRC150.9871794871794925195044007532-44007549, 44009671-44009677
145SPG11150.9979541734860915733244912470-44912473, 44912482-44912483, 44941094-44941102
146FBN1150.999883936861651861648766760
147PPIB150.99385560675883465164455134-64455137
148HCN4150.9958471760797315361273614893-73614896, 73616165-73616171, 73616190-73616193
149POLG150.9911290322580633372089876818-89876850
150MESP2150.9765494137353428119490320121-90320146, 90320149, 90320161
151BLM150.9804889515749983425491310148, 91337472-91337473, 91337479, 91337486-91337488, 91337491, 91337506-91337547, 91337555-91337587
152VPS33B150.9913700107874916185491542213-91542228
153GFER160.9789644012945136182034352-2034364
154PKD1160.94323110285006733129122141159-2141164, 2147203, 2147922-2147952, 2149873-2149921, 2149962-2149978, 2150057-2150072, 2150245-2150251, 2152513-2152520, 2152922-2152928, 2153299-2153326, 2153711-2153727, 2154547-2154576, 2154606-2154640, 2155923-2155941, 2155981-2155987, 2156241-2156254, 2156442-2156481, 2156494-2156500, 2156899-2156941, 2159453-2159459, 2159520, 2159712-2159718, 2159960-2159966, 2160134-2160144, 2160717-2160724, 2161824-2161837, 2163179-2163185, 2164460-2164493, 2164805-2164819, 2165387-2165394, 2166007-2166013, 2166546-2166595, 2166915-2166921, 2167041-2167047, 2167518-2167531, 2167869-2167878, 2167955-2168000, 2168056-2168075, 2168209-2168215, 2169115, 2169160-2169186, 2185592-2185598, 2185662-2185690
155CREBBP160.997271114749622073293778282, 3778417-3778420, 3778428-3778430, 3778433-3778443, 3778452
156ALG1160.972759856630823813955130969-5130999, 5134815-5134821
157MYH11160.999494949494953594015851765-15851767
158ABCC6160.998448581560287451216313509-16313515
159OTOA160.997953216374277342021742176-21742182
160PALB2160.9960685200786314356123614794-23614804, 23647476-23647478
161CLN3160.9825360668185323131728497686-28497708
162PHKG2160.994266994266997122130760142-30760143, 30760182-30760183, 30760188-30760190
163SALL1160.9939622641509424397551175661-51175675, 51175678-51175686
164RPGRIP1L160.9949341438703120394853672265-53672271, 53682998-53683009, 53721813
165HSD11B2160.9507389162561660121867465166, 67465207, 67465215-67465229, 67465243-67465250, 67465269, 67465275-67465286, 67465290-67465294, 67465300-67465316
166LCAT160.998488284202572132367973978-67973979
167HP160.9991809991811122172091295
168MLYCD160.980431848852929148283932867, 83932872-83932888, 83932990-83932992, 83932995, 83933094-83933098, 83933101, 83933197
169FOXF1160.9824561403508820114086544201-86544217, 86544231-86544233
170SPG7160.998324958123954238889579413-89579416
171PAFAH1B1170.99351175993512812332570437-2570444
172ASPA170.9989384288747319423402368
173ALOXE3170.992041198501871721368013789-8013805
174HES7170.9896755162241976788025690-8025693, 8025730-8025732
175MYH3170.995534947621526582310534932-10534957
176COX10170.993993993993998133214095309, 14095345-14095351
177RAI1170.9956301345918525572117697099-17697105, 17697123-17697135, 17698203-17698207
178MYO15A170.99848956858303161059318024020, 18024032-18024033, 18024039-18024042, 18044967, 18049333-18049335, 18057182, 18070953, 18070961-18070963
179UNC119170.955739972337483272326879393, 26879398-26879405, 26879415-26879418, 26879425-26879431, 26879438, 26879443-26879453
180NF1170.981220657277160852029422328-29422345, 29422359-29422387, 29483001, 29586055-29586093, 29588729-29588754, 29664414, 29664837-29664882
181KRT10170.93675213675214111175538975205-38975235, 38975305-38975384
182KRT14170.992248062015511141939741304-39741309, 39742832, 39742850-39742852, 39742856
183KRT16170.9781997187060531142239766265-39766281, 39768490-39768496, 39768740-39768746
184SLC4A1170.9934210526315818273642328597-42328614
185PLEKHM1170.997792494481247317143555478-43555484
186COL1A1170.999089874857794439548276679-48276682
187TRIM37170.998963730569953289557105913, 57105918-57105919
188BRIP1170.99846375059793376, 59821810-59821814
189ACE170.99795970415718392161554485, 61554488-61554490, 61554508-61554510, 61554556
190ITGB4170.9970744194551116546973729679-73729694
191UNC13D170.999694469905291327373832771
192SEPT9170.92277115275412136176175494605-75494740
193SGSH170.968853545394347150978194048-78194094
194NPC1180.999478759447482383721124945, 21124950
195LAMA3180.99880023995201121000221534572-21534583
196DSC3180.999256781865482269128574280-28574281
197DSC2180.999630450849961270628659842
198DSG2180.999702114983621335729078248
199LOXHD1180.9870403857745686663644126873-44126884, 44126895-44126900, 44126909, 44126923-44126976, 44126999-44127011
200SMAD4180.9849306811332125165948593484, 48593498-48593500, 48603045, 48603055-48603058, 48603062-48603076, 48603093
201LMAN1180.998695368558382153357000433, 57021812
202CCBE1180.9959049959055122157134062-57134066
203TNFRSF11A180.9794705564559738185159992603-59992608, 59992611-59992642
204CTDP1180.99896049896053288677475188-77475190
205ELANE190.8917910447761287804853262-853268, 853274-853278, 853288-853295, 853303-853363, 853373-853377, 853381
206KISS1R190.9891395154553131197920323, 920327-920336, 920354, 920390
207MAP2K2190.923524522028269212034123781-4123872
208INSR190.999758978067141497293874
209PRKCSH190.998109640831763158711558341-11558343
210CACNA1A190.9961441297699829752113318650, 13318675-13318693, 13318696, 13318701-13318703, 13318767-13318768, 13318774, 13318796, 13318800
211NOTCH3190.9921045076083855696615271895-15271899, 15281301-15281306, 15281314-15281315, 15281329, 15281334-15281335, 15281351, 15311615-15311640, 15311644-15311645, 15311651-15311660
212JAK3190.9887407407407438337517940933-17940966, 17941314-17941317
213COMP190.999560246262091227418900772
214CEBPA190.9517177344475452107733792727-33792751, 33792864, 33792867, 33793025-33793026, 33793031, 33793034, 33793037, 33793198, 33793213-33793214, 33793217-33793222, 33793229-33793239
215SCN1B190.950433705080554080735521725-35521764
216RYR1190.99927234239598111511738931391, 38931444, 38931454, 38998425, 39055844-39055846, 39055851-39055854
217DLL3190.999461497038231185739993470
218PRX190.97469220246238111438640901320-40901328, 40909613-40909614, 40909624-40909657, 40909679-40909733, 40909755-40909757, 40909760-40909767
219TGFB1190.996589940323964117341858916, 41858921, 41858929, 41858932
220BCKDHA190.998505231689092133841916560-41916561
221BCAM190.9867514573396925188745312413, 45312418, 45312421-45312434, 45321861, 45321872-45321879
222SIX5190.999549549549551222046272041
223DMPK190.9624338624338671189046285526, 46285537, 46285539-46285541, 46285543-46285549, 46285552-46285610
224MED25190.998663101604283224450339526, 50339529-50339530
225MYH14190.998527245949939611150770217-50770225
226KCNC3190.84212840809147359227450823503-50823589, 50826453, 50831517, 50831521, 50831524-50831529, 50831542-50831565, 50831686, 50831712-50831713, 50831721, 50831728, 50831735-50831736, 50831741, 50831852-50831853, 50831859, 50831865-50831868, 50831888-50831894, 50831905-50831907, 50831939-50831951, 50831972-50832007, 50832026-50832030, 50832152, 50832160, 50832182-50832339
227PRKCG190.9856733524355330209454393202-54393213, 54393225-54393227, 54393230, 54393235-54393244, 54393250-54393253
228NLRP7190.997752087347467311455451167-55451173
229TPO20.995717344753751228021457468-1457479
230KLF1120.9805068226120930153910183856-10183885
231APOB20.99868536371604181369221266771-21266783, 21266788-21266792
232POMC20.99875621890547180425384469
233HADHA20.996509598603848229226416477-26416484
234OTOF20.9908241574908255599426699759-26699783, 26699804-26699811, 26699818, 26699845-26699847, 26699892-26699897, 26700109, 26700115-26700121, 26700125, 26712594-26712596
235C2orf7120.999482803206622386729294047, 29294050
236ALK20.9917746247172540486329451754-29451793
237SPAST20.90275526742301180185132289008-32289009, 32289012, 32289073, 32289076-32289085, 32289092-32289255, 32340783, 32341226
238SOS120.998750624687665400239224429, 39281920-39281923
239ABCG520.9933537832310813195644047192-44047204
240ABCG820.9831849653808134202244102340-44102373
241SLC3A120.996112730806618205844507888-44507895
242MSH220.999286987522282280547639596, 47639660
243MSH620.9970609845701712408348033600-48033611
244LHCGR20.995238095238110210048982764-48982773
245NRXN120.9957062146892719442550170905, 50765567-50765584
246EFEMP120.988529014844817148256102091-56102107
247ALMS120.99856046065259181250473613032-73613040, 73613044, 73827996-73828002, 73828342
248DCTN120.9973937972374310383774598117-74598122, 74598126, 74598129-74598131
249SUCLG120.999039385206531104184668438
250REEP120.973597359735971660686564602-86564610, 86564617-86564619, 86564630-86564633
251EIF2AK320.994628469113718335188926730-88926732, 88926736-88926750
252RANBP220.970852713178292829675109347853-109347874, 109352102, 109352606-109352612, 109357110-109357116, 109363193, 109365376-109365379, 109365452-109365458, 109367754, 109368104-109368112, 109370010, 109371385-109371402, 109371656-109371662, 109374985-109374996, 109378611-109378628, 109382787-109382793, 109382967-109383003, 109383052-109383058, 109383268-109383274, 109383315-109383321, 109383354-109383360, 109383672-109383678, 109383769-109383798, 109384466-109384472, 109384523-109384529, 109384597-109384634, 109399223-109399228
253NPHP120.996066863323582034110922685-110922691, 110922703
254MERTK20.9986666666666743000112656325-112656326, 112656331, 112760764
255GLI220.9997899600924214761121555025
256PROC20.98773448773449171386128180670, 128180681, 128180686, 128180696, 128180724-128180736
257RAB3GAP120.9976238968092372946135815587-135815591, 135848619, 135848648
258MCM620.99391727493917152466136602149-136602163
259MMADHC20.998877665544331891150438655
260NEB20.9925903674777214819974152432731-152432826, 152432833-152432868, 152466341-152466354, 152512819, 152512822
261SCN2A20.99268860086407446018166172000, 166172003-166172004, 166221705, 166234123, 166234129, 166234145, 166237663-166237699
262SCN1A20.9994997498749435997166856247-166856249
263SCN9A20.99528142905292285934167083164-167083168, 167083182, 167083186, 167083190, 167083199-167083214, 167089953-167089956
264AGPS20.97218007081437551977178333179-178333184, 178333192-178333194, 178333248-178333252, 178346787-178346805, 178346825-178346828, 178346833, 178346839-178346840, 178346851, 178346862-178346866, 178346913-178346914, 178362473-178362478, 178362489
265TTN20.9995211874551148100248179392339, 179392343-179392350, 179410813-179410815, 179425480-179425482, 179486642-179486649, 179523794-179523803, 179542520, 179543156, 179543176, 179598586-179598593, 179665137, 179665141-179665143
266COL3A120.99545557827766204401189854141, 189854148, 189871663-189871679, 189872664
267COL5A220.99894500189916905-189916906, 189918669-189918674, 189936813
268PMS120.99392640228653172799190718773, 190718776, 190718794-190718808
269BMPR220.9996791786974713117203384820
270NDUFS120.98717948717949282184207017200-207017227
271CPS120.9997779258272314503211455577
272ABCA1220.99820236260914147788215797417-215797425, 215798874, 215798878-215798881
273SMARCAL120.9993019197207722865217315577-217315578
274DES20.9992922859164911413220283707
275OBSL120.98646986469865775691220435633-220435640, 220435662-220435692, 220435738-220435775
276COL4A420.99387835703002315064227942700-227942730
277COL4A320.9986036305605475013228115912-228115918
278CHRND20.999356499356511554233390930
279UGT1A120.9987515605493121602234668953-234668954
280C20orf54200.98510638297872211410744354-744374
281AVP200.95757575757576214953063336-3063342, 3063775, 3063779-3063783, 3063786-3063787, 3063793, 3063796, 3063813-3063816
282PANK2200.99649737302977617133870109, 3870224, 3870239, 3870244-3870245, 3870249
283FERMT1200.99950835791544120346088241
284C20orf7200.99807321772642103813782273-13782274
285HNF4A200.9824561403508825142543052769-43052793
286CTSA200.997995991983973149744520238-44520240
287SALL4200.999683744465531316250418866
288CHRNA4200.9930997876857713188461992475-61992481, 61992488-61992490, 61992495-61992496, 61992510
289KCNQ2200.997327224131357261962103692-62103698
290SOX18200.69004329004329358115562680512-62680869
291IFNGR2210.9378698224852163101434775850-34775904, 34775908-34775915
292KCNE1210.99230769230769339035821820-35821822
293HLCS210.999541494727191218138309515
294COL18A1210.999620132953472526546875490-46875491
295COL6A1210.9876903142209338308747401775-47401812
296PCNT210.99700329637399301001147832898-47832906, 47851840-47851860
297PRODH220.9933444259567412180318905964, 18905978, 18923546-18923553, 18923569, 18923585
298GP1BB220.99355877616747462119711723-19711726
299TBX1220.88440860215054172148819748428-19748599
300CHEK2220.9613855763770668176129083906-29083917, 29083946-29083965, 29085136-29085171
301NF2220.991051454138716178830067846-30067861
302TRIOBP220.98041701887856139709838119856-38119862, 38119879-38119921, 38120030-38120068, 38120153, 38120156, 38120176-38120178, 38120297-38120306, 38120426-38120453, 38120683-38120689
303EP300220.9957211870255331724541545042-41545061, 41546128-41546134, 41546146-41546149
304TNFRSF13C220.981981981981981055542322257-42322263, 42322278-42322280
305CYB5R3220.980132450331131890643045304-43045321
306MLC1220.996472663139334113450502593-50502595, 50502609
307TYMP220.995859213250526144950964713-50964717, 50964809
308SHANK3220.86479786422578709524451113070-51113132, 51135953-51136143, 51158726-51158931, 51158943-51159170, 51159443, 51159452-51159454, 51159461, 51159467, 51169526-51169534, 51169550, 51169553-51169554, 51169716-51169718
309FANCD230.9791666666666792441610088264-10088311, 10088340-10088346, 10091150-10091156, 10107078-10107093, 10107110-10107116, 10114941-10114947
310SCN5A30.998981151299036588938616795-38616800
311RFT130.997539975399754162653156396-53156397, 53156401, 53156421
312FLNB30.999487770521194780958062887-58062890
313ATXN730.88548273431994325283863898275-63898599
314PROK230.9974358974359139071834153
315GBE130.9772403982930348210981754627-81754628, 81754657-81754678, 81754681-81754685, 81754691, 81754700-81754710, 81754719, 81754733-81754737, 81754760
316CHMP2B30.99376947040498464287299091-87299094
317PROS130.9650418513047871203193595910-93595911, 93595923-93595926, 93595947-93595994, 93596004, 93596008-93596012, 93596022, 93646238-93646247
318ARL13B30.9953379953386128793761917, 93762012-93762014, 93762040-93762041
319CASR30.9996910719802313237122003620
320ATP2C130.9996491228070212850130718490
321NPHP330.95341848234411863993132432061-132432072, 132438549-132438674, 132440996-132441043
322FOXL230.9867374005305151131138664689, 138664862-138664866, 138664876-138664883, 138664886
323MRPS2230.98060941828255211083139071527-139071534, 139071587-139071599
324PLOD230.9951690821256112277145797024, 145804581, 145804632, 145804672-145804674, 145804686-145804689, 145828133
325GFM130.999113475177322256158378663-158378664
326IFT8030.99570446735395102328159995457-159995458, 160075300-160075307
327OPA130.98982939632546313048193354987, 193355024-193355048, 193355070, 193363355-193363356, 193363391, 193376676
328IDUA40.9979612640163141962996640-996641, 996670, 997176
329HTT40.993636652879416094293076605-3076651, 3076657-3076666, 3076669, 3076672, 3076684
330DOK740.9953795379538715153465257, 3465267-3465270, 3465276-3465277
331EVC40.99899295065458329795809997-5809999
332PROM140.999230177059282259816040609, 16040612
333CNGA140.93859649122807140228047954603, 47954619-47954620, 47954635-47954641, 47954646, 47954652-47954653, 47954659-47954660, 47954664-47954669, 47954681-47954687, 47972927-47973032, 47973072-47973073, 47973078, 47973099-47973100, 47973110
334SLC4A440.9933028919330322328572121102-72121113, 72352695-72352704
335CDS140.99927849927851138685562019
336PKD240.993808049535618290788928915-88928917, 88928922-88928926, 88928941-88928950
337SNCA40.888888888888894742390749294-90749335, 90756702, 90756705-90756708
338MANBA40.99507575757576132640103611800-103611811, 103611821
339CISD240.9240196078431431408103808511-103808522, 103808569-103808587
340CFI40.9988584474885821752110673640, 110673644
341ANK240.998484082870141811874114161707-114161723, 114232439
342BBS740.97067039106145632148122766752, 122775863-122775878, 122775881-122775886, 122775923-122775940, 122775954, 122775957-122775975, 122782816, 122782834
343GLRB40.94444444444444831494158041708-158041767, 158041779, 158041782-158041791, 158041804-158041814, 158060056
344GK40.889290012033691841662166199162-166199168, 166199358-166199364, 166199386-166199412, 166199423-166199432, 166199563-166199609, 166199988-166199994, 166200025-166200066, 166200115-166200121, 166200447-166200453, 166200741-166200763
345F1140.9952076677316391878187206918-187206925, 187208838
346SDHA50.916791979949871661995236613-236619, 236657-236681, 236693-236699, 240564-240573, 251108-251149, 251466-251506, 254571-254602, 256472, 256509
347TERT50.993527508090612233991294594, 1294687, 1295056-1295063, 1295065-1295066, 1295074-1295083
348SDHA50.9938837920489323271593246, 1593266
349MTRR50.994490358126721221787885912-7885923
350DNAH550.99437837837838781387513727637-13727641, 13727660-13727665, 13862719-13862725, 13894894, 13916457-13916506, 13916512, 13916516-13916521, 13916530, 13916562
351FAM134B50.995314591700137149416478990, 16478993, 16478996-16478999, 16479002
352NIPBL50.98526440879382124841537036481-37036483, 37036492-37036517, 37036534-37036536, 37036539, 37036542-37036545, 37036560-37036589, 37048606-37048613, 37048623-37048625, 37048632-37048675, 37048736, 37048773
353LIFR50.9893746205221635329438482725-38482730, 38482738, 38482759-38482769, 38490327-38490331, 38490382-38490393
354OXCT150.9840051183621225156341803221-41803228, 41862771, 41862776-41862781, 41862783, 41862803-41862804, 41862806-41862812
355ITGA250.999717992103781354652386429
356ERCC850.9563392107472752119160200636-60200672, 60200679-60200693
357SMN250.971751412429382588569362945-69362961, 69366517-69366524
358SMN250.971751412429382588570238369-70238385, 70241942-70241949
359AP3B150.9756468797564780328577311336-77311337, 77311340-77311341, 77311344, 77311347-77311350, 77311353, 77311356-77311358, 77311361, 77412025-77412026, 77458659-77458660, 77524010, 77524014, 77536717-77536760, 77563398-77563406, 77563410-77563416
360ARSB50.998127340823973160278280982-78280984
361RASA150.94751908396947165314486627225, 86633852, 86648974-86648977, 86648985, 86669980-86670137
362MEF2C50.9880450070323517142288024367-88024374, 88024388-88024395, 88024428
363GPR9850.99656466360129651892189941804-89941818, 89941824-89941829, 89941836, 90007078-90007079, 90021411-90021414, 90052271-90052272, 90074337-90074339, 90119260-90119267, 90124778-90124780, 90124807-90124813, 90144577-90144588, 90144595, 90144601
364PCSK150.99734748010616226295746570-95746575
365WDR3650.98949579831933302856110432796-110432800, 110432803, 110436322-110436331, 110436361-110436363, 110445918, 110448773-110448774, 110448843, 110448846-110448852
366APC50.9991795593061478532112102978-112102981, 112128213-112128215
367HSD17B450.99185888738128182211118835113-118835121, 118835129-118835137
368FBN250.99359194415837568739127614425, 127702070-127702123, 127863656
369MYOT50.94655978623914801497137221775-137221813, 137221836, 137221843-137221882
370MATR350.9988207547169832544138651833, 138658531-138658532
371DIAPH150.9984289080911263819140953564-140953569
372NIPAL450.9964311206281251401156898682-156898685, 156898690
373NSD150.9998764058830818091176687054
374GRM650.9832953682612442634178421655-178421689, 178421798-178421801, 178421921-178421923, 178421926, 178421942
375FOXC160.99699157641396516621611425, 1611650-1611651, 1611695, 1611698
376TUBB2B60.989536621823621413383225569-3225575, 3226002-3226008
377DTNBP160.998106060606062105615627616, 15627622
378ATXN160.9644607843137387244816327808-16327825, 16327863-16327869, 16327876-16327933, 16327944, 16327947-16327948, 16327951
379HLA-H60.950666666666673775029855862-29855864, 29856330, 29856397, 29856406, 29856426-29856427, 29856516, 29856525, 29856534, 29856546, 29856593-29856614, 29856643, 29856693, 29856733
380TNXB60.9528252980819191192931976899, 31976916, 31976926, 31977387-31977394, 31977525-31977555, 31977835-31977841, 31977998, 31978498-31978517, 31979422-31979428, 31979476-31979482, 31980130-31980136
381CYP21A260.9791666666666731148832006215-32006217, 32006222-32006225, 32006886, 32007846-32007852, 32008195-32008201, 32008448-32008455, 32008904
382TNXB60.99253672715846951272932009631-32009664, 32010122-32010129, 32010269-32010275, 32010569-32010575, 32010729-32010735, 32011235, 32011248, 32012276-32012283, 32012330-32012336, 32012984-32012990, 32026012-32026019
383HLA-DQA160.889322916666678576832609139-32609150, 32609169, 32609181, 32609212-32609213, 32609227-32609228, 32609231-32609233, 32609239-32609241, 32609299, 32610008-32610009, 32610387-32610406, 32610433-32610464, 32610478, 32610481, 32610487, 32610495, 32610534-32610535
384HLA-DQB160.7404580152671820478632629124-32629173, 32629193-32629194, 32629199, 32629224-32629234, 32632575-32632640, 32632650, 32632656, 32632687-32632690, 32632693-32632695, 32632700-32632750, 32632766-32632770, 32632775, 32632795, 32632832, 32632841-32632844, 32634355, 32634373
385SYNGAP160.93377976190476267403233388042-33388108, 33393602-33393606, 33393616, 33393622-33393643, 33393649-33393658, 33393664-33393673, 33411509-33411528, 33411543-33411557, 33411567-33411683
386MOCS160.990580847723718191139874690-39874707
387RUNX260.9776500638569635156645390446-45390480
388CD2AP60.9916666666666716192047501394-47501401, 47573955-47573962
389MUT60.9644917887261480225349409553-49409554, 49409600-49409603, 49409606, 49409609, 49409624-49409684, 49421346, 49421434-49421438, 49421463-49421464, 49423856-49423858
390PKHD160.99983640081821222551484207, 51497428
391EYS60.9898251192368896943565303097-65303103, 65523278-65523281, 65523342-65523347, 65523351-65523352, 65523362, 65523418, 65596602, 65596630-65596677, 65596714, 66005854-66005857, 66005868, 66005883, 66005969-66005973, 66112465-66112475, 66200546-66200548
392LMBRD160.995686999383867162370410738-70410743, 70411416
393RIMS160.9917306556408742507972889343-72889352, 72947573-72947576, 72974714-72974719, 72974722, 72974727-72974733, 73001685, 73023311, 73023323-73023326, 73108754, 73108767-73108771, 73108789-73108790
394MYO660.999740798341111385876623810
395LCA560.998567335243553209480196779, 80202334-80202335
396BCKDHB60.961832061068745117980881045-80881047, 80881052-80881075, 80881080-80881088, 80881099-80881107
397SLC35A160.992110453648928101488187133-88187140
398LAMA260.9997863932500329363129513906-129513907
399ARG160.991744066047478969131904917-131904924
400ENPP160.97804175665947612778132171179-132171184, 132203485-132203491, 132203496, 132203502-132203505, 132203515-132203518, 132203529-132203532, 132203542-132203550, 132203557-132203580, 132203590-132203591
401EYA460.9973958333333351920133769267-133769271
402AHI160.99136730715678313591135639685-135639698, 135759583, 135763811-135763818, 135769527-135769530, 135769535-135769538
403PEX760.9341563786008264972137167256-137167319
404IFNGR160.99047619047619141470137524669-137524682
405PEX360.9964349376114141122143792201-143792202, 143792205, 143792213
406STX1160.994212962962965864144508600, 144508605-144508608
407SYNE160.999469576418881426394152583292, 152716679-152716682, 152716688-152716691, 152730746, 152757105-152757108
408TBP60.94019607843137611020170871015-170871035, 170871059-170871064, 170871069-170871102
409LFNG70.9096491228070210311402559496-2559549, 2559608, 2559616-2559629, 2559639-2559642, 2559647-2559653, 2559661-2559683
410PMS270.98686751641563425896013150-6013156, 6029439-6029458, 6045523-6045529
411TWIST170.7635467980295614460919156801-19156944
412DNAH1170.99683171234895431357221630536-21630553, 21630926-21630941, 21737693-21737694, 21893987-21893989, 21893992-21893993, 21894036-21894037
413FAM126A70.9929757343550411156623004093-23004103
414HOXA1370.81062553556127221116727239263-27239282, 27239312-27239313, 27239329-27239331, 27239335-27239338, 27239343-27239353, 27239369-27239371, 27239374, 27239378, 27239383-27239390, 27239393-27239470, 27239474, 27239495-27239540, 27239548-27239590
415BBS970.9853603603603639266433195313, 33303917, 33303920, 33303934-33303954, 33303967-33303976, 33303978-33303982
416TXNDC370.998868138087152176737916536, 37916544
417GLI370.998734977862116474342005246-42005249, 42005598, 42005602
418CCM270.9775280898876430133545039933-45039962
419NCF170.94303030303034782572639983-72640007, 72640033-72640039, 72643704-72643710, 72645924-72645930, 72648747
420ELN70.999540229885061217573442544
421NCF170.99232736572899117374193668, 74197911-74197917, 74202427
422ABCB470.999479166666672384087031479-87031480
423AKAP970.99539406345957541172491609604, 91609616-91609618, 91609622-91609647, 91631872-91631874, 91707169, 91707184, 91708399-91708413, 91714903, 91714911, 91714922, 91722432
424KRIT170.9900497512437822221191867018-91867034, 91867038-91867040, 91867056-91867057
425COL1A270.998049256278968410194049716, 94049728, 94049911, 94049922-94049923, 94058716-94058718
426SGCE70.9889380530973515135694259052-94259066
427SLC26A570.98299776286353382235103017272-103017309
428RELN70.99922906427677810377103417011-103417012, 103417022, 103417025-103417029
429SLC26A370.9986928104575232295107432360-107432361, 107432365
430CFTR70.959936979518341784443117180236-117180238, 117188713-117188753, 117188760-117188800, 117188842-117188877, 117235001-117235040, 117235050-117235052, 117235054, 117235070-117235071, 117235079-117235084, 117235108-117235112
431AASS70.98633585041352382781121769522, 121769536-121769572
432IMPDH170.9983333333333331800128049838, 128049844, 128049848
433ATP6V0A470.98097502972652482523138394369-138394372, 138394385-138394392, 138394397, 138394400-138394423, 138394430-138394440
434BRAF70.9995654063450712301140434560
435PRSS170.8723118279569995744142458448-142458454, 142459653-142459697, 142460332-142460342, 142460366-142460397
436CLCN170.99561846983485132967143013358-143013370
437CNTNAP270.9987487487487553996147914455, 147914461, 147914481, 147914485-147914486
438KCNH270.97787356321839773480150644694-150644718, 150644722-150644725, 150644727-150644732, 150644766-150644768, 150644773-150644775, 150644779-150644783, 150674971-150675001
439SHH70.9942404607631481389155595798, 155595801-155595806, 155595832
440MNX170.879767827529021451206156799286-156799294, 156802644-156802646, 156802652-156802780, 156802902-156802905
441TUSC380.999044890162371104715480668
442LPL80.999299719887961142819810872
443ESCO280.9939091915836111180627650216-27650226
444ADAM980.999186991869922246038959428-38959429
445CHD780.9973315543695824899461693873-61693886, 61714141-61714142, 61734483, 61734587, 61749513-61749518
446TTPA80.99641577060932383763976776-63976778
447EYA180.9910061832490216177972246373-72246381, 72246390-72246395, 72246401
448CNGB380.999588477366261243087623836
449NBN80.998675496688743226590960091, 90960113-90960114
450TMEM6780.9902945113788529298894777694-94777698, 94827543-94827549, 94827553, 94827564-94827565, 94827568-94827569, 94827628-94827635, 94827638-94827640, 94827648
451VPS13B80.992412873103229111994100123361-100123362, 100123386-100123435, 100123456-100123462, 100123466-100123472, 100123480-100123491, 100123504-100123505, 100287383, 100287393, 100287413, 100513938, 100513981-100513987
452TRPS180.998970398970443885116427198-116427201
453KIAA019680.9979885057471373480126073366-126073372
454KCNQ380.98472699503627402619133492567, 133492639-133492646, 133492727-133492747, 133492770-133492779
455TG80.9998796195979318307133882071
456CYP11B180.97486772486772381512143956703-143956709, 143958572-143958602
457PLEC80.995873354678055814055144996241, 144996245-144996256, 144996264-144996268, 144996378, 144997094-144997096, 144997099-144997100, 144998914-144998925, 144998932-144998936, 145003817-145003833
458GPT80.99195171026157121491145730637-145730644, 145731299-145731302
459DOCK890.99825396825397116300452025-452031, 452040-452043
460VLDLR90.99961861174676126222622226
461KCNV290.998778998779216382718730, 2718762
462JAK290.975286849073268433995066742-5066747, 5066756-5066758, 5066761, 5066765-5066766, 5070008, 5077453-5077459, 5077466-5077470, 5077479-5077518, 5077524, 5077527, 5077537-5077548, 5077573-5077577
463B4GALT190.989139515455313119733115990-33116002
464TMC190.9947437582128812228375420298-75420309
465TRPM690.999670456417862606977367193-77367194
466VPS13A90.98068241469816184952579820307, 79824342-79824346, 79834925-79834936, 79840868, 79840890, 79841400-79841403, 79841415, 79841434, 79841438, 79842377, 79843050-79843053, 79843088-79843090, 79843102-79843105, 79843109-79843111, 79843114, 79853219, 79896787-79896802, 79896842, 79928908, 79928914-79928915, 79928928-79928933, 79928949-79928951, 79928957-79928958, 79929005-79929007, 79929010, 79932522-79932563, 79932572-79932586, 79932591, 79932598-79932601, 79933159, 79934519, 79946953, 79952247-79952249, 79952259, 79955139, 79955142, 79955146, 79996892-79996894, 79996902-79996926, 79996929-79996932, 79996999
467AUH90.996078431372554102094118377-94118380
468ROR290.999293785310732283294486022, 94486025
469PTCH190.999769797421731434498270643
470FOXE190.98128342245989211122100616699-100616716, 100616721-100616723
471TGFBR190.98809523809524181512101867538-101867546, 101867553-101867557, 101867561-101867562, 101867565-101867566
472INVS90.9981238273921263198102988452-102988453, 102988458, 102988464, 102988469, 103046730
473MUSK90.9996168582375512610113547820
474CDK5RAP290.9989440337909265682123280753-123280758
475LMX1B90.9991063449508511119129456073
476SETX90.99863081901917118034135139880-135139886, 135153603-135153606
477CEL90.852047556142673362271135944521-135944527, 135944583-135944589, 135945985-135946018, 135946683-135946966, 135946985-135946988
478SURF190.9889258028792910903136223293, 136223296, 136223300-136223303, 136223307-136223310
479ADAMTS1390.99463118580766234284136293860-136293861, 136293863-136293883
480COL5A190.99655609932935195517137534081-137534089, 137534094-137534100, 137534111-137534112, 137534116
481LHX390.98759305210918151209139090807, 139090886-139090891, 139094822-139094828, 139094845
482INPP5E90.996899224806261935139333332-139333335, 139333340-139333341
483NOTCH190.99843505477308127668139391633-139391636, 139391641-139391648
484AGPAT290.982078853046615837139581759-139581762, 139581767-139581776, 139581781
485SLC34A390.9994444444444411800140128332
486CSF2RAX0.9992337164751113051422190
487FANCBX0.9957364341085311258014871213-14871221, 14871247, 14877341
488RPS6KA3X0.999100314889792222320179816, 20213185
489SMSX0.9663941871026337110121958955-21958991
490ARXX0.9609236234458366168925031384-25031385, 25031560, 25031647-25031676, 25031696-25031702, 25031766-25031771, 25031776-25031785, 25031789-25031793, 25031802, 25031809-25031810, 25031895-25031896
491DMDX0.99837221920781181105832398651-32398652, 32398669-32398670, 32398677-32398683, 32827690-32827696
492RPGRX0.93986701358774208345938145167-38145178, 38145337, 38145342, 38145347, 38145354-38145355, 38145367, 38145373-38145392, 38145396-38145398, 38145411, 38145423, 38145427, 38145437, 38145453-38145454, 38145497-38145502, 38145507-38145523, 38145526-38145534, 38145544-38145558, 38145561, 38145564-38145570, 38145573-38145579, 38145581-38145634, 38145638-38145649, 38145654-38145679, 38145707, 38145710-38145714, 38145726
493OTCX0.9877934272300513106538226651, 38229090-38229101
494TSPAN7X0.9722175038546859-38546879
495SYN1X0.996222851746938211847433817-47433819, 47434109-47434112, 47434118
496WASX0.994035785288279150948547210-48547217, 48547232
497CLCN5X0.999592003263971245149806971
498ARX0.9710459645313180276366765149-66765151, 66765155-66765210, 66765213, 66765217-66765222, 66766362, 66766365, 66766368, 66766381-66766388, 66766391, 66766398, 66766409
499MED12X0.9845423936333101653470338647-70338649, 70338655-70338659, 70338667-70338670, 70360610-70360625, 70360632, 70360635, 70360638, 70360641, 70360644, 70360647-70360654, 70360657-70360660, 70360664-70360668, 70360689-70360692, 70361094-70361138, 70361202, 70361208
500GJB1X0.99530516431925485270444378-70444381
501TAF1X0.97377683914115149568270586165-70586294, 70586302-70586311, 70586329-70586334, 70586342-70586344
502PHKA1X0.9921023965141629367271813006-71813034
503SLC16A2X0.9782844733984840184273641365-73641370, 73641384-73641415, 73641565, 73641569
504ATRXX0.999732584570132747976875997, 76876000
505ATP7AX0.999555851654452450377258639, 77284845
506BRWD3X0.9933444259567436540979964974, 79964986, 79965034, 79965037-79965038, 79965042, 79991519-79991523, 79991545, 79991550-79991551, 79991555, 79991566-79991567, 80064948, 80064953-80064970
507ZNF711X0.997812773403325228684520257-84520261
508CHMX0.997961264016314196285211251-85211254
509COL4A5X0.999802293396615058107807124
510PAK3X0.9977051061388441743110435770-110435773
511LAMP2X0.9943365695792971236119590508-119590510, 119590526, 119590566, 119590571, 119590590
512CUL4BX0.9989059080962832742119672591-119672593
513SLC9A6X0.9995251661918312106135104751
514ZIC3X0.96438746438746501404136648985-136648987, 136651104-136651145, 136651152-136651156
515SOX3X0.98806860551827161341139586154, 139586158-139586164, 139586166-139586171, 139586175, 139586196
516FMR1X0.9978936282253841899147024744-147024747
517IDSX0.9951603145795581653148564383-148564390
518SLC6A8X0.918238993710691561908152954030-152954066, 152954074-152954075, 152954081-152954083, 152954086-152954088, 152954098-152954139, 152954147-152954152, 152954155-152954161, 152954163-152954210, 152954221-152954226, 152954234, 152958546
519ABCD1X0.929401251117071582238153006134-153006144, 153008466-153008486, 153008675-153008688, 153008705-153008734, 153008785-153008791, 153008981-153008987, 153009009-153009033, 153009113-153009155
520MECP2X0.93921175684703911497153296184-153296212, 153363061-153363122
521OPN1LWX0.9662100456621371095153416312-153416325, 153416343-153416365
522OPN1MWX0.98447488584475171095153448171-153448178, 153453449-153453456, 153459003
523OPN1MWX0.98538812785388161095153485289-153485296, 153490567-153490574
524IKBKGX0.98907103825137161464153792557-153792572
525IKBKGX0.9509202453987724489153868347-153868370
VariantPhase/
Zygosity
Allele freqImpactEvaluationSummary / Info
4C3-P314Lhomozygous0.079Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.159 (benign), Testable gene in GeneTests with associated GeneReview
4C3-R102Ghomozygous0.053Complex/Other
pathogenic
Moderate clinical importance,
likely
This variant (also called C3F) is common in Europeans (10.2% allele frequency), and is associated with age-related macular degeneration. In the US, 1.5% of adults over 40 have the disease, but the incidence increases strongly with age (>15% in women over 80). Assuming an average lifetime risk of ~10%, heterozygous individuals have a ~13% risk and homozygous have ~20%.
2.5POLG-Q1236Hhet unknown0.031Complex/Other
pathogenic
Low clinical importance,
uncertain
Generally a nonpathogenic polymorphism, but may have a modifier effect that increases severity when combined in cis with other pathogenic variants.
2.5FLG-R3738Hhet unknown0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.278 (possibly damaging), Testable gene in GeneTests with associated GeneReview
2.5FLG-V3179Ghet unknown0.339Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
2.5FLG-D2936Ghet unknown0.138Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5FLG-G2545Rhet unknown0.292Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
2.5FLG-H2507Qhet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
2.5FLG-L2481Shet unknown0.222Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
2.5FLG-K2444Ehet unknown0.188Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
2.5FLG-E2398Qhet unknown0.144Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.92 (probably damaging), Testable gene in GeneTests with associated GeneReview
2.5FLG-S2366Thet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.967 (probably damaging), Testable gene in GeneTests with associated GeneReview
2.5FLG-VG2225AVhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5FLG-L2224Qhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5FLG-Y2119Hhet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5FLG-A2108Vhet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5FLG-H1961Qhet unknown0.418Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5FLG-R1699Chet unknown0.428Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5FLG-R1684Hhet unknown0.190Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5FLG-S1482Yhet unknown0.243Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5FLG-R1376Ghet unknown0.170Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5FLG-R1360Hhet unknown0.164Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5FLG-A1167Ghet unknown0.425Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5FLG-E755Khet unknown0.155Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5FLG-R501*het unknownUnknown
pathogenic
Insufficiently evaluatedPrioritization score: 5
Nonsense mutation, Testable gene in GeneTests with associated GeneReview
2.5FLG-P478Shet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
2.5FLG-G444Rhet unknown0.319Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests with associated GeneReview
2.5FLG-G332Vhet unknown0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
2.5SDHB-S163Phet unknown0.016Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2COL4A1-Q1334Hhet unknown0.292Dominant
pathogenic
Low clinical importance,
likely
This common variant has been associated with arterial stiffness and, in Japanese, a small increased risk of myocardial infarction (MI, a.k.a. heart attack). This last observation supported a dominant effect for this variant and, assuming a lifetime risk of 15% for MI, we estimate carriers have an additional risk of 0.5-3%.
2COL4A1-T555Phomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2COL4A1-V7Lhet unknown0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SPINK1-N34Shet unknown0.008Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.02 (benign), Testable gene in GeneTests
2MEFV-R202Qhomozygous0.111Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.019 (benign), Testable gene in GeneTests with associated GeneReview
2PCSK9-V474Ihomozygous0.859Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2PCSK9-G670Ehomozygous0.848Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2NEFL-S472ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
2APOB-S4338Nhomozygous0.725Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-E4181Khet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-I2313Vhet unknown0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-Y1422Chomozygous0.994Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-A618Vhet unknown0.494Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-T98Ihet unknown0.149Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2TGIF1-P83Shifthomozygous0.139Complex/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.
2TGIF1-P292Shet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2TP53-P72Rhomozygous0.550Unknown
pathogenic
Low clinical importance,
uncertain
This is a common variant was first reported as a polymorphism. It has since had mixed associations with cancer: Storey et al. conclude a 7x *increased* risk of HPV cancer for homozygotes vs hets, but Jones et al. find a 1.98x *decreased* risk for colorectal cancer. This variant may have significant impact on particular cancers, but it is unclear what effect it has on the overall burden of cancer.
2KCNJ11-V337Ihomozygous0.761Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2KCNJ11-K23Ehomozygous0.711Unknown
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.5PRKCH-V374Ihet unknown0.015Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1.5CST3-A25Thet unknownUnknown
pathogenic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1.5CHRNA5-V134Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1.5CHRNA5-D398Nhomozygous0.158Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
1.25WFS1-V333Ihomozygous0.889Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.25WFS1-R611Hhomozygous0.442Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview
1.25WFS1-V871Mhet unknown0.023Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
1KRTAP4-8-A168ThomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KRTAP4-8-C30*homozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1KRTAP4-8-P27HhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TTN-I23649ThomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-A19840PhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-S19140Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-E9928EEhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-R9852Hhomozygous0.198Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-G9378Rhomozygous0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-S3419Nhomozygous0.850Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-V3261Mhomozygous0.840Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-S1295Lhomozygous0.881Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-K1201Ehomozygous0.519Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-T811Ihet unknown0.146Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PMS2-K541Ehomozygous0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PMS2-P470ShomozygousUnknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), 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
1SLC22A1-M408Vhet unknown0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1MLXIPL-A358Vhomozygous0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.345 (possibly damaging)
1MLXIPL-Q241Hhomozygous0.090Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.697 (possibly damaging)
1HRNR-H2772Rhet unknown0.516Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-Y2746Hhet 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-E549Ghet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
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
1PIK3R6-L609ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SEBOX-L207Shomozygous0.913Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SEBOX-W10ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ELAC2-S217Lhet unknown0.209Complex/Other
pathogenic
Low clinical importance,
uncertain
Reported to be associated with increased susceptibility to prostate cancer, but later studies weaken the hypothesis. Xu et al.'s meta-analysis concludes that there is a small but significant increased risk (OR = 1.13). Assuming a lifetime risk of 16% for prostate cancer we calculate this leads to an increased risk of ~1.5% (17.5% total).
1DPYD-R29Chomozygous0.731Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1KRT16-R41Chet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.928 (probably damaging), Testable gene in GeneTests with associated GeneReview
1INSR-A2GhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
1HLA-L-H17RhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1HLA-L-I30VhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1HLA-L-R38ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1HLA-L-A142VhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1HLA-L-W144*homozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1HLA-L-C172YhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1SP110-M523Thomozygous0.319Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SP110-L425Shet unknown0.875Unknown
pathogenic
Low clinical importance,
uncertain
This variant is associated with a slightly increased risk of tuberculosis. It is unclear whether it is itself causal, or in linkage disequilibrium with some other causal variant that has a stronger effect.
1SP110-G299Rhet unknown0.822Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SP110-W112Rhet unknown0.945Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TPMT-Y240Chet unknown0.037Complex/Other
pharmacogenetic
Low clinical importance,
well-established
Alone, this variant is known as TPMT*3C -- but often, especially in Caucasians, it is found together with another nonsynonymous variant (A154T) to produce the TPMT*3A variant. Both variants are associated with loss of thiopurine methyltransferase (TPMT) activity, although *3C is milder than *3A. Inability to metabolize thiopurine drugs can lead to severe adverse reactions. Heterozygotes may be advised to take a reduced dosage due to reduced metabolism of the drug.
1TPMT-A154Thet unknown0.031Recessive
pharmacogenetic
Low clinical importance,
likely
Usually this variant is found in combination Y240C, forming the TPMT*3A variant. When alone, this variant produces the *3B variant. Both variants are associated with loss of thiopurine methyltransferase (TPMT) activity. Inability to metabolize thiopurine drugs can lead to severe adverse reactions. Heterozygotes may be advised to take a reduced dosage due to reduced metabolism of the drug.
1PPARG-P12Ahet unknown0.051Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.979 (probably damaging), Testable gene in GeneTests
1HSH2D-S223Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1HUS1B-D268Yhomozygous0.693Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HUS1B-H130Qhomozygous0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
1CTDP1-S61AhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TNXB-R48PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1AGL-Q229Rhet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1AGL-P1067Shet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.984 (probably damaging), Testable gene in GeneTests with associated GeneReview
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
1ZFPM1-R22Ghet unknown0.569Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZFPM1-E444ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZFPM1-L446ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ALG6-S306FhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-L8Mhomozygous0.457Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-C34Yhomozygous0.547Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-F41Shomozygous0.544Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q57Ehomozygous0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-A68VhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-W71LhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-E73LhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-G78RhomozygousUnknown
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-A92Lhomozygous0.151Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Y103Shomozygous0.544Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q152Hhomozygous0.526Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CUL7-Q813RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1EYS-R2326QhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1EYS-C2216Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
1EYS-N1902Ihomozygous0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1EYS-L1873Vhet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1EYS-S1517Ghet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1EYS-R1515Whet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1EYS-I1451Thet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1EYS-L1419Shet unknown0.780Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1EYS-I1361Vhet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1EYS-Q1325Ehet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1EYS-L852Phomozygous0.655Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1TAS2R38-I296Vhet unknown0.534Unknown
benign
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.984 (probably damaging)
1TAS2R38-A262Vhet unknown0.397Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
1TAS2R38-A49Phet unknown0.495Unknown
benign
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1POR-A503Vhomozygous0.227Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1KRT4-Q230Rhet unknown0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1KRT4-G160GAGGFGAGFGTGGFGhomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1KRT4-A146Vhet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1HABP2-T50MhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1CYP2C9-R144Chet unknown0.027Unknown
pharmacogenetic
Moderate clinical importance,
well-established
This variant, also called CYP2C9*2, is a pharmacogenetic variant that modulates sensitivity for Warfarin (due to reduced metabolism). This variant is associated with Caucasians. The FDA has approved reduced recommended Warfarin dosage based on the presence of this variant.
1MSH6-G39Ehet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.873 (probably damaging), Testable gene in GeneTests with associated GeneReview
1MYH6-A1130Thet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1MYH6-V1101Ahet unknown0.422Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1LIG4-T9Ihet unknown0.132Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.966 (probably damaging)
1LIG4-A3Vhet unknown0.023Dominant
protective
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
1SFTPA2-T9NhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1KRT6C-V481IhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1KRT83-H493Yhomozygous0.791Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1KRT83-I279MhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
1KRT83-R149Chet unknown0.141Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1B3GNT6-L316ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1B3GNT6-L335ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1LRP5-A1330Vhet unknown0.120Complex/Other
pathogenic
Low clinical importance,
uncertain
In a study of a UK population this variant was associated with a small increased risk of osteoporosis and osteoporotic bone fractures, with each copy of the variant presumed to have an additive effect. A study in Chinese young men failed to find an association with peak bone density.
1ALG8-R268Qhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview
1MATN3-E252Khet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview
1OR2T11-Q309Rhomozygous0.948Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
1OR2T11-M203Rhomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
1OR2T11-C119Rhomozygous0.843Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
1SLCO1B1-N130Dhomozygous0.663Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SLCO1B1-P155Thomozygous0.071Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1TIRAP-S180Lhomozygous0.073Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1AK094914-K152NhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1AK094914-T33ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1AK094914-M25ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1RDH12-R161Qhet unknown0.076Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.941 (probably damaging), Testable gene in GeneTests with associated GeneReview
1KCNH2-K897Thet unknown0.098Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
1ATG9B-A790Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ATG9B-A765ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PALB2-G998Ehet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview
1PALB2-E672Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.952 (probably damaging), Testable gene in GeneTests with associated GeneReview
1PALB2-Q559Rhet unknown0.160Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1C19orf55-G398ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1AKAP9-M463Ihomozygous0.376Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1AKAP9-K1335KQhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1AKAP9-N2792Shomozygous0.271Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1KCP-G1168Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KCP-D621Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KCP-K395EhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KCP-H313ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KCP-A16ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SALL1-V1275Ihomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SALL1-S159Ghet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1RHBG-G315Rhomozygous0.550Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1RHBG-P424ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1RHBG-H428RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF598-M637Thomozygous0.601Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF598-A608Thet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF598-E555EEhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF598-S453Yhet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF598-G42ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF598-E25GhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF598-E17AhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF598-DM13ALhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF598-G6ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1DOCK8-A22Vhet unknown0.291Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.009 (benign), Testable gene in GeneTests
1DOCK8-D63Nhomozygous0.079Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests
1DOCK8-N413Shet unknown0.193Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.19 (benign), Testable gene in GeneTests
1RNASEL-D541Ehomozygous0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1RNASEL-R462Qhet unknown0.208Complex/Other
pathogenic
Low clinical importance,
uncertain
Associated with increased risk of prostate cancer in individuals who already have a family history of prostate cancer, but studies have been unable to replicate this finding in sporadic (non-familial) prostate cancer cases.
1F5-M2148Thet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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
1RGPD4-D761GhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1NPRL3-L489Shifthomozygous0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PLEKHA2-P389Shifthomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1LOXL1-R141Lhet unknownUnknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
1C17orf103-C16ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TCEAL6-Q175Shifthomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF761-L47ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF761-I122Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF761-V168Ihet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF761-G528Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF761-E603Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1CPN2-V536Mhet unknown0.262Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.935 (probably damaging), Testable gene in GeneTests
1CPN2-Q509RhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1CPN2-A305Thet unknown0.359Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
1SEPN1-C108Yhomozygous0.789Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SEPN1-N467KhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1DGKK-D1111Nhet unknown0.145Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1DGKK-L1014ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF480-C3ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF480-P177Shet unknown0.161Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.486 (possibly damaging)
1TMEM160-G120Shomozygous0.068Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.866 (probably damaging)
1ZNF167-N494ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NR_015394-G45WhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1NR_015394-F74ShomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1NR_015394-T113ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1VSIG10L-Q860ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1VSIG10L-R592QhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1VSIG10L-M356IhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1VSIG10L-N3ThomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1IL7R-I66Thomozygous0.597Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1IL7R-V138Ihomozygous0.689Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1IL7R-T244Ihet unknown0.150Unknown
protective
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1IL7R-I356Vhet unknown0.214Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ARSA-R496Hhet unknown0.048Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ARSA-T391Shet unknown0.423Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ARSA-N350Shet unknown0.241Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.012 (benign), Testable gene in GeneTests with associated GeneReview
1COL6A2-S399Nhomozygous0.727Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1COL6A2-R680Hhomozygous0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
1RYR1-P1787Lhomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.018 (benign), Testable gene in GeneTests with associated GeneReview
1RYR1-G2060Chomozygous0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.345 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1PADI6-V343Shifthomozygous0.016Unknown
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-A745ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SCARF2-P174Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1CCDC66-D5ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CCDC66-Q383Rhomozygous0.934Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CCDC66-R460Qhet unknown0.206Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
1CCDC66-S606SShet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1COL18A1-F15Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1COL18A1-T379Mhet unknown0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.969 (probably damaging), Testable gene in GeneTests
1COL18A1-PGP1362DelhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1COL18A1-V1477Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1COL18A1-D1675Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ALG12-I393Vhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.939 (probably damaging), Testable gene in GeneTests with associated GeneReview
1KRTAP7-1-I61Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KRTAP7-1-S51Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KRTAP7-1-Y17ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1AX746903-T82ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1AX746903-Q107DelhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1PKD2-R28Phet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.62 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1NR_027444-W159ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SLC41A3-L501Shifthomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SLC41A3-T62Ahomozygous0.982Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1DLL3-F172Chet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests with associated GeneReview
1DLL3-L218Phet unknown0.650Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1APOE-C130Rhet unknown0.010Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
1AX746964-G175Shifthomozygous0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1AX746964-K166Ihomozygous0.628Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
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
0.75ADD1-G460Whet unknown0.232Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.75ADD1-S617Chet unknown0.334Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75ANKK1-A239Thet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.852 (probably damaging)
0.75ANKK1-G442Rhet unknown0.541Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75ANKK1-E713Khet unknown0.347Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75BLMH-I443Vhet unknown0.241Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75PKD1-A3485Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.75PKD1-H2638Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75PKD1-H1369Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75CILP-G1166Shomozygous0.766Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-Q979Rhomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-K575Ehomozygous0.974Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-I395Thet unknown0.491Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DFNB31-N796Khet unknown0.197Unknown
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-A440Thet unknown0.197Unknown
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
0.5EIF2AK3-A704Shomozygous0.756Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EIF2AK3-Q166Rhomozygous0.690Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPATA18-S227Phet unknown0.311Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.27 (possibly damaging)
0.5SPATA18-K292Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.877 (probably damaging)
0.5ROR2-V819Ihomozygous0.798Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ROR2-T245Ahomozygous0.619Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BAAT-R20Qhomozygous0.569Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.136 (benign), Testable gene in GeneTests
0.5ABCA1-K1587Rhomozygous0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCA1-I883Mhet unknown0.427Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCA1-R219Khet unknown0.498Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CA9-Q326Rhet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ZBTB26-S158Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CDK5RAP2-V1540Lhomozygous0.714Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-E289Qhomozygous0.801Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PEX16-V116Ihomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC34A3-R67Hhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC34A3-E513Vhomozygous0.915Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EXD3-R653Chet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.953 (probably damaging)
0.5EXD3-E322Dhomozygous0.913Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EXD3-R220Qhomozygous0.937Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EXD3-A160Thet unknown0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EXD3-R20Qhomozygous0.677Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALMS1-R392Chet unknown0.409Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-S524SPhet unknown0.578Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-V671Ghomozygous0.857Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-G1414Ahet unknown0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-I1875Vhet unknown0.405Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-I2070Thet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-S2100Lhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-S2111Rhet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R2284Phet unknown0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R2826Shet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-N2856Shet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R4029Khet unknown0.527Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NDOR1-R30Ghet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.894 (probably damaging)
0.5TXK-R336Qhet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5KIF24-W218Lhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5KIF24-M140Vhet unknown0.347Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.091 (benign)
0.5POMT1-D411Ehet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SETX-I1386Vhomozygous0.494Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-G1252Rhomozygous0.494Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-D1192Ehomozygous0.598Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTF1-R401Qhet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.074 (benign), Testable gene in GeneTests
0.5AMBN-L354Phet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.984 (probably damaging)
0.5KBTBD8-F179Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5TTL-A133Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CD6-P105Lhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5CD6-T539Ahet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5MATN2-K356Ehet unknown0.418Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MATN2-V932Ihet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.97 (probably damaging)
0.5PEX2-C184Rhomozygous0.990Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ROM1-G118Ahomozygous0.931Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests
0.5CASR-A986Shet unknown0.070Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5CASR-E1011Qhomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ATOH1-H237Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.932 (probably damaging)
0.5GGH-A31Thet unknown0.198Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GGH-C6Rhet unknown0.088Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BHLHE22-S28Ahet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BHLHE22-L62Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.889 (probably damaging)
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)
0.5TG-P118Lhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.5TG-S734Ahet unknown0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-M1028Vhet unknown0.696Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5TG-D1312Ghomozygous0.344Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-D1838Nhomozygous0.304Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.061 (benign), Testable gene in GeneTests
0.5TG-M1974Thet unknown0.239Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-R1999Whet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-S2132Lhomozygous0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-W2501Rhet unknown0.566Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.031 (benign), Testable gene in GeneTests
0.5TG-R2530Qhet unknown0.586Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5ATXN7-S920Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TUBAL3-R250Whet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
0.5HADHB-T2TThet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FAM111B-Y132Shifthet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
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
0.5CYP11B2-V386Ahet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MS4A14-I56Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MS4A14-N177Yhet unknown0.543Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
0.5MS4A14-G584Rhet unknown0.513Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5BOP1-D78Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5BOP1-D78Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MRPS9-S13Lhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5EVC-T449Khomozygous0.871Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EVC-R576Qhet unknown0.274Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.5GBE1-I334Vhomozygous0.979Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GBE1-R190Ghomozygous0.321Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.025 (benign), Testable gene in GeneTests with associated GeneReview
0.5MKI67-K3217Ehet unknown0.426Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.017 (benign)
0.5MKI67-T3150Shet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MKI67-Q2904Rhet unknown0.228Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MKI67-S2793Nhet unknown0.242Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.047 (benign)
0.5MKI67-D2760Ghet unknown0.228Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.047 (benign)
0.5MKI67-T2720Phet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
0.5MKI67-R2649Hhet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.458 (possibly damaging)
0.5MKI67-P2608Lhet unknown0.427Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.5MKI67-N2363Shet unknown0.426Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MKI67-I2101Thet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.02 (benign)
0.5MKI67-P1877Lhet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.25 (possibly damaging)
0.5MKI67-R1876Qhet unknown0.221Unknown
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-L854Vhet unknown0.244Unknown
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-E497Dhet unknown0.242Unknown
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)
0.5OPA1-S158Nhomozygous0.482Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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
0.5AK160367-G206Ahet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
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
0.5RNH1-P170Lhet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.881 (probably damaging)
0.5ALK-D1529Ehet unknown0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALK-K1491Rhet unknown0.405Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.5ALK-I1461Vhomozygous0.982Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ARMS2-A69Shet unknown0.294Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRR5L-A41Thomozygous0.826Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.96 (probably damaging)
0.5PRR5L-T139Ahet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.977 (probably damaging)
0.5BAG3-C151Rhet unknown0.065Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BAG3-P407Lhet unknown0.150Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PDHX-R24Ghet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.055 (benign), Testable gene in GeneTests
0.5PDHX-T101Ahet unknown0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.381 (possibly damaging), Testable gene in GeneTests
0.5TACC2-E719Dhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.956 (probably damaging)
0.5TACC2-W1103Rhomozygous0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5TACC2-P1492Lhet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.5ACAD9-V310Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ACAD9-A326Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.975 (probably damaging), Testable gene in GeneTests
0.5CCDC34-N298Shet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.929 (probably damaging)
0.5CCDC34-P53Shet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.508 (possibly damaging)
0.5SBF2-V1394Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SBF2-Q1216Ehet unknown0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.03 (benign), Testable gene in GeneTests with associated GeneReview
0.5SBF2-E679Khet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RETNLB-P20Lhet unknown0.154Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.987 (probably damaging)
0.5RETNLB-L14Shifthet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5RASSF10-Q302Hhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5VWA5B2-G90Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5VWA5B2-P200Shet unknown0.205Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SMPD1-V36Ahomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GCKR-L446Phomozygous0.673Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KRTAP5-1-A166Ghet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KRTAP5-1-S163Chet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CTSD-A58Vhet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), 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
0.5C2orf71-S1225SShet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5C2orf71-P1089Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5C2orf71-T580Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5C2orf71-A252Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5C2orf71-S13Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ADRB1-G389Rhomozygous0.705Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DCBLD2-I144Mhet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging)
0.5CHAT-A120Thet unknown0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.5CHAT-V461Mhomozygous0.927Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC29A3-R18Ghet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-S158Fhomozygous0.453Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-V239Ihomozygous0.771Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-I326Vhomozygous0.824Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CDH23-S494Nhomozygous0.273Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-N1349Dhet unknown0.772Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-A1572Thet unknown0.720Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LYAR-H265Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LYAR-D151Nhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.45 (possibly damaging)
0.5LHCGR-N312Shomozygous0.573Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PTCHD3-*768Qhet unknown0.570Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-I584Mhet unknown0.963Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-M521Thet unknown0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-D473Ghet unknown0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.849 (possibly damaging)
0.5PTCHD3-C407Ghet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5PTCHD3-S309Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ABCC8-A1369Shomozygous0.755Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OPTN-K322Ehomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-E2968Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-S2717Whomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-C2162Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-S1935Ghet unknown0.127Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P1559Shomozygous0.565Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P389Thomozygous0.513Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ALX4-P102Shet unknown0.217Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALX4-R35Thet unknown0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5ANXA11-R230Chomozygous0.382Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5RP1-N985Yhomozygous0.206Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.958 (probably damaging), Testable gene in GeneTests
0.5RP1-C2033Yhomozygous0.186Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests
0.5AX746750-S137Shifthet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SRD5A2-L88Vhomozygous0.636Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SRD5A2-A48Thet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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: 3
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
0.5OTOF-F303Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OTOF-R82Chomozygous0.229Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5ABCC2-Y39Fhomozygous0.990Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCC2-R1066*het unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation, Testable gene in GeneTests
0.5AVPI1-L36Rhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.924 (probably damaging)
0.5PLEKHG5-G866Shet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5PLEKHG5-M496Vhet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.795 (possibly damaging), Testable gene in GeneTests
0.5PLEKHG5-T294Shet unknown0.267Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYOF-R1783Qhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5CYP1B1-V432Lhet unknown0.547Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYP2C8-K399Rhet unknown0.061Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5CYP2C8-R139Khet unknown0.078Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0.5DOK7-P415Shet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.928 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DOK7-G461Dhet unknown0.128Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.565 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5NAT2-R268Khomozygous0.675Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ADH1B-H48Rhomozygous0.678Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VCAN-K1516Rhomozygous0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VCAN-R1826Hhomozygous0.349Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5VCAN-F2301Yhomozygous0.462Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VCAN-D2937Yhomozygous0.352Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview
0.5PKHD1-Q4048Rhomozygous0.566Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-Q3899Rhomozygous0.546Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-R3842Lhet 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: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-A1262Vhet unknown0.239Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-R760Chet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALS2-V368Mhomozygous0.869Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A20-T199Mhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5SLC6A20-A9Ghomozygous0.111Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRPH2-D338Ghomozygous0.761Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRPH2-R310Khomozygous0.943Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRPH2-Q304Ehomozygous0.877Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCA12-S777Thomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-R4770Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E5344Ghomozygous0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-V5427Mhomozygous0.918Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-V5876Ihet unknown0.424Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.94 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5TNXB-P2731Rhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-G2518Ehomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-H1161Rhet unknown0.568Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NOTCH4-C815Ghet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5NOTCH4-K117Qhet unknown0.391Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OBSL1-R1767Qhet unknown0.491Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-Q1578Rhomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-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
0.5HLA-DQB1-T217Ihet unknown0.256Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-S214Nhet unknown0.333Unknown
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-D167Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-G157Ahomozygous0.539Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-LL28PVhet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-S27Thomozygous0.206Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-A23Shet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-V15Ahet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-D12Ghomozygous0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LMBRD1-D469Ehomozygous0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5AP3B1-V585Ehomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5DNAJC10-Y414Chet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5DNAJC10-H646Qhet unknown0.694Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAM26F-G80Rhet unknown0.193Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.992 (probably damaging)
0.5FAM26F-T100Ahet unknown0.614Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAM26F-E293Khet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.855 (probably damaging)
0.5RSPH4A-L589Phomozygous0.707Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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-S1109Lhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.284 (possibly damaging)
0.5ROS1-T145Phet unknown0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.993 (probably damaging)
0.5FRZB-R200Whet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5SEC63-T676Ihet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.288 (possibly damaging), Testable gene in GeneTests
0.5CASP8-K14Rhomozygous0.640Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL3A1-A698Thet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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
0.5LCA5-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
0.5AIM1-Q293Phomozygous0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AIM1-E1196Ahomozygous0.935Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0.5AIM1-C1395Yhomozygous0.243Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.958 (probably damaging)
0.5HMGCR-I638Vhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SKIV2L-Q151Rhet unknown0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SKIV2L-M214Lhomozygous0.823Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SKIV2L-V917Mhet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SKIV2L-A1071Vhet unknown0.176Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HSPA1L-E602Khet unknown0.225Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HSPA1L-T493Mhomozygous0.868Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5NSD1-V614Lhet unknown0.216Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NSD1-S726Phet unknown0.231Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.92 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5F12-A207Phomozygous0.951Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PROP1-A142Thet unknown0.206Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PROP1-N20Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5N4BP3-R163Qhet unknown0.207Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.036 (benign)
0.5N4BP3-R317Hhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5ARAP3-P185Hhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5MSX2-M129Thomozygous0.716Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SPINK5-Q267Rhet unknown0.475Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-A335Vhet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-S368Nhet unknown0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-K420Ehet unknown0.380Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-R711Qhomozygous0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC26A2-I574Thomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5XPC-Q939Khomozygous0.683Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TSEN2-R126Hhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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-V755Ihomozygous0.094Unknown
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)
0.5COL23A1-T287Ahet unknown0.525Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.009 (benign)
0.5COL23A1-R267Whet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5COL6A3-A3012Phet unknown0.843Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-D2831Hhet unknown0.047Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALDH7A1-K439Qhet unknown0.072Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-D19Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-D29Ahet unknown0.071Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-P32Qhet unknown0.060Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-Q61Rhet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-S182Whet unknown0.392Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-C238Shomozygous0.729Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PSORS1C1-E34Khet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
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-G545Ahet unknown0.031Unknown
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: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FBN2-T1416Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
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
0.5COL4A3-L141Phomozygous0.760Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-E162Ghomozygous0.764Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-P574Lhet unknown0.358Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLT4-R1324Lhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLT4-H890Qhet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.714 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5FLT4-T494Ahet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.5F13A1-E652Qhomozygous0.177Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5F13A1-P565Lhet unknown0.213Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SCN5A-H558Rhet unknown0.215Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FBXL21-N31Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5FBXL21-V172Delhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5FBXL21-P208Lhet unknown0.812Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALDH5A1-H180Yhomozygous0.334Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BCLAF1-T888Nhet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.31 (possibly damaging)
0.5BCLAF1-S209Chet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.96 (probably damaging)
0.5BCLAF1-G66Ahet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAM169A-E511Khet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5AK097289-V20Lhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AK097289-F90Shifthet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AK097289-V92Ihet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ATP6V0A4-V2Ahomozygous0.680Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IQCF2-R4Qhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.966 (probably damaging)
0.5CLCN1-G118Whomozygous0.995Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CLCN1-P727Lhet unknown0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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)
0.5AP4M1-E111Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AP4M1-R271Hhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5LAMB2-A1765Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LAMB2-R575Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC25A12-R473Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NR3C2-V180Ihomozygous0.883Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CYP3A7-R409Thomozygous0.669Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LRP2-I4210Lhomozygous0.462Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5LRP2-K4094Ehet unknown0.744Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LRP2-N83Shet unknown0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5CFI-T300Ahomozygous0.957Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABHD14A-R32Qhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.99 (probably damaging)
0.5CFC1-W78Rhomozygous0.966Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GLI2-A1156Shomozygous0.536Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GLI2-D1306Nhomozygous0.595Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLNB-D1157Nhomozygous0.538Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5FLNB-V1471Mhomozygous0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.02 (benign), Testable gene in GeneTests with associated GeneReview
0.5CHRNA2-T125Ahomozygous0.644Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BANK1-R604Qhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5BANK1-C650Rhomozygous0.990Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HR-Q528Rhet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.293 (possibly damaging)
0.5HR-L526Phet unknown0.219Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HR-C397Yhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.928 (probably damaging)
0.5HR-G337Dhet unknown0.285Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NEB-I6534Vhomozygous0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-A6277Phet unknown0.691Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-S6081Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-R4389Thet unknown0.724Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-V1491Mhomozygous0.453Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-Y1301Hhomozygous0.668Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-K1027Nhomozygous0.476Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-R171Shomozygous0.865Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D314Hhet unknown0.648Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D392Ghomozygous0.979Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-T682Nhet unknown0.148Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging), 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
0.5LRP1B-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
0.5HADH-L86Phomozygous0.859Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LCT-N1639Shomozygous0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LCT-I362Vhomozygous0.944Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DCHS2-S2117Ahet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.963 (probably damaging)
0.5DCHS2-V2007Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5DCHS2-N897Shomozygous0.832Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5DCHS2-S344Lhomozygous0.972Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DCHS2-H174Rhomozygous0.446Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.317 (possibly damaging)
0.5DCHS2-V153Ahomozygous0.317Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.227 (possibly damaging)
0.5NEIL3-P117Rhet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5NEIL3-H286Rhet unknown0.168Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.061 (benign)
0.5NEIL3-P443Lhomozygous0.591Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NEIL3-Q471Hhomozygous0.649Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NEIL3-G520Rhomozygous0.941Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5C9-M45Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.526 (possibly damaging)
0.5C9-R5Whet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AMACR-E277Khomozygous0.724Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-Q239Hhet unknown0.109Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-L201Shomozygous0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-G175Dhet unknown0.257Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-V9Mhet unknown0.368Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FAM105A-F319Lhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.916 (probably damaging)
0.5MEN1-T546Ahomozygous0.791Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LPA-H1861Chet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LPA-M1679Thet unknown0.693Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LPA-R1421Qhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5LPA-L1372Vhet unknown0.495Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LPA-L1358Vhet unknown0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC22A2-S270Ahomozygous0.876Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LRP11-P92Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
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-A8168Shet unknown0.128Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, 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-E4060Dhomozygous0.539Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5RSPH3-G518Dhet unknown0.206Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RSPH3-E484Khet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.563 (possibly damaging)
0.5RSPH3-R398Qhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.935 (probably damaging)
0.5RSPH3-R213Qhet unknown0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5CCRL2-Y4Chet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging)
0.5CCRL2-I243Vhet unknown0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.206 (possibly damaging)
0.5HEXB-L62Shomozygous0.978Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HEXB-K121Rhet unknown0.227Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DAGLB-Q664Rhomozygous0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.293 (possibly damaging)
0.5DAGLB-L456Vhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging)
0.5DNAH11-V1023Ahomozygous0.193Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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-N2641Shomozygous0.367Unknown
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
0.5TXNDC3-C208Rhomozygous0.740Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CCM2-V53Ihet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview
0.5DDC-R462Qhet unknown0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DDC-M17Vhomozygous0.979Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EGFR-R521Khet unknown0.259Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AGA-T149Shomozygous0.925Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TLR3-L412Fhomozygous0.200Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.991 (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: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DNAH5-I4450Vhomozygous0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-A4134Vhomozygous0.450Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-Q2463Rhet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.99 (probably damaging), 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-H12Qhomozygous0.896Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MTRR-S202Lhomozygous0.285Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SDHA-*109Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SDHA-S45Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KIAA1715-T159Shet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.426 (possibly damaging)
0.5CLECL1-S52Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ATP2C2-M165Lhomozygous0.997Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ATP2C2-G411Shet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ATP2C2-L604Qhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5KISS1R-L364Hhomozygous0.875Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GRIN3B-H117Yhet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.841 (possibly damaging)
0.5GRIN3B-D173Ehet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.012 (benign)
0.5GRIN3B-L396Shet unknown0.095Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5GRIN3B-R404Whet unknown0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.976 (probably damaging)
0.5GRIN3B-W414Rhomozygous0.681Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GRIN3B-G466Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5GRIN3B-T577Mhomozygous0.347Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5GRIN3B-A845Thet unknown0.097Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.137 (benign)
0.5GRIN3B-Y966Nhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5GRIN3B-Q1006Ehomozygous0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.051 (benign)
0.5GRIN3B-APAEAPPHS1028Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5GRIN3B-P1039Rhet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NDUFS7-P23Lhomozygous0.437Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
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)
0.5DOT1L-G1386Shet unknown0.384Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DOT1L-V1418Lhet unknown0.266Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DOT1L-G1443Chet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
0.5NETO1-S481Nhomozygous0.975Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NETO1-V477Ihet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.74 (possibly damaging)
0.5LMAN1-V39Ahet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LAMA3-S2834Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASXL3-N954Shet unknown0.723Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.5ASXL3-V1652Mhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ASXL3-M1708Vhet unknown0.692Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MYO5B-M1688Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO5B-L1055LLhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO5B-R918Hhet unknown0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO5B-T126Ahomozygous0.945Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ATP8B1-A1152Thomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FECH-R102Qhet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5VMAC-R109Hhet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5PEX11G-L216Fhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging)
0.5PEX11G-C91Whet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5LEPRE1-M549Ihet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.424 (possibly damaging), Testable gene in GeneTests
0.5NOTCH3-A2223Vhomozygous0.553Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PGLYRP2-R476Whet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5PGLYRP2-M270Khomozygous0.399Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.2 (possibly damaging)
0.5PGLYRP2-R99Qhomozygous0.364Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5PGLYRP2-T46Ahomozygous0.366Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UNC13A-L1121Phomozygous0.992Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UNC13A-A447Thet unknown0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UNC13A-A53Shifthet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5OCEL1-R42Lhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging)
0.5PRKCSH-A291Thet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5TYK2-P1104Ahet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.5TYK2-V362Fhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5ZNF414-A357Phet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ZNF414-P77Shet unknown0.238Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ADAMTS10-H1101Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADAMTS10-T134Shomozygous0.910Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5ADAMTS10-R62Qhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.023 (benign), Testable gene in GeneTests with associated GeneReview
0.5ACTL9-R271Phet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5ACTL9-H227Nhet unknown0.609Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.996 (probably damaging)
0.5ACTL9-V51Ahet unknown0.784Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ACTL9-F37Shet unknown0.785Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5POMGNT1-M623Vhomozygous0.878Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL5A3-A1488Phet unknown0.382Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL5A3-R1122Hhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5COL5A3-R322Ghomozygous0.925Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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)
0.5RAB40B-P263Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5RAI1-G90Ahet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RAI1-P165Thet unknown0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5MYO15A-C1977Rhomozygous0.746Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO15A-D2432Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO15A-Y2682Fhomozygous0.215Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5UNC45B-I852Nhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5SLC25A45-R285Chet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.987 (probably damaging)
0.5SLC25A45-M224Vhomozygous0.942Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BNIPL-T3Ahet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.866 (probably damaging)
0.5COX10-R159Qhomozygous0.494Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RPTN-D455Hhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
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)
0.5CYBA-V174Ahet unknown0.417Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CYBA-Y72Hhet unknown0.649Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IL6R-D358Ahomozygous0.266Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.911 (probably damaging)
0.5BC139719-P80Shifthet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ENO3-N71Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CTNS-T260Ihomozygous0.825Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KRT37-T422Mhet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.732 (possibly damaging)
0.5KRT37-R382Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5SEC22B-D70Yhet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SEC22B-T81Khet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SEC22B-R107Qhet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SEC22B-C129Rhet unknown0.085Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SEC22B-R131*het unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5SEC22B-H189Rhet unknown0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SDK2-T1553Mhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5DNAI2-A558Thomozygous0.674Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCA4-S2255Ihet unknown0.221Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCA4-N1868Ihet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.77 (possibly damaging), Testable gene in GeneTests
0.5ABCA4-H423Rhomozygous0.232Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CARD14-V585Ihet unknown0.090Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CARD14-M752Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CARD14-R820Whet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.854 (probably damaging)
0.5GAA-H199Rhomozygous0.574Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GAA-R223Hhomozygous0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GAA-V780Ihomozygous0.720Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COG1-N392Shet unknown0.536Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COG1-E453Qhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.11 (benign), 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-P1335Lhet unknown0.479Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-D46Ehet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PPM1J-I291Thet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.983 (probably damaging)
0.5PPM1J-V236Ihomozygous0.974Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTPN22-W620Rhomozygous0.970Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL1A1-T1075Ahomozygous0.961Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OVGP1-E676Qhet unknown0.652Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OVGP1-M479Vhet unknown0.148Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.963 (probably damaging)
0.5OVGP1-M477Thet unknown0.664Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5OVGP1-D332Ehet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5SCN4A-N1376Dhet unknown0.604Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN4A-S524Ghomozygous0.938Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BRIP1-S919Phomozygous0.652Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IL12RB1-G378Rhomozygous0.329Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5IL12RB1-M365Thomozygous0.297Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IL12RB1-Q214Rhomozygous0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZNF101-H127Rhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5NR_027052-R29Hhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_027052-T53Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NR_027052-Y63Nhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SDF2L1-R161Hhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5CDC42EP1-R97Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5MICALL1-A519Shet unknown0.146Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICALL1-H685Rhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (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-A660Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TRIOBP-T817Shet unknown0.080Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.16 (benign), 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-S1227Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TRIOBP-H1300Rhet unknown0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.5TRIOBP-W1377Rhomozygous0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.084 (benign), Testable gene in GeneTests
0.5PRODH-R521Qhomozygous0.887Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRODH-W185Rhomozygous0.826Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRODH-P30Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRODH-P19Qhet unknown0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FTCD-A438Vhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TUBB1-T274Mhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.891 (probably damaging)
0.5TUBB1-R307Hhet unknown0.127Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5CBR3-V244Mhomozygous0.398Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.014 (benign)
0.5TTC3-M840Thet unknown0.646Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TTC3-R924Hhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5TTC3-D1751Hhet unknown0.791Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL6A1-R850Hhomozygous0.264Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ITGB2-Q354Hhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.543 (possibly damaging), Testable gene in GeneTests
0.5DNAJB7-K202Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5DNAJB7-L56Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CLCNKB-R27Lhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-A214Ghomozygous0.815Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-A287Vhomozygous0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-M562Thomozygous0.856Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-K578Ehet unknown0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5H2BFM-Q73*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5XIAP-Q423Phomozygous0.277Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.053 (benign), Testable gene in GeneTests with associated GeneReview
0.5HTATSF1-D652Shifthet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5OPN1LW-T65Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OPN1LW-L153Mhet unknown0.182Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OPN1LW-S180Ahet unknown0.229Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5OPN1LW-A298Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OPN1LW-Y309Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5F9-T194Ahomozygous0.144Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5ATP7A-V767Lhet unknown0.332Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP7A-E1350Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MTHFR-E429Ahet unknown0.243Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.099 (benign), Testable gene in GeneTests
0.5KAL1-V534Ihomozygous0.543Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASMTL-*622Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ASMTL-G434Shet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ASMTL-Y364Hhet unknown0.092Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.014 (benign)
0.5ASMTL-S228Phet unknown0.092Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5DMD-R2937Qhomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMD-R1745Hhet unknown0.387Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DMD-D882Ghet unknown0.727Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BC112980-K147Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CCNB3-T973Shifthet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SLC38A5-M451Thet unknown0.071Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5PCK1-V184Lhomozygous0.856Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCK1-E276Khet unknown0.076Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5BCAS4-E56Dhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.738 (possibly damaging)
0.5FAM46B-H416Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5SIX5-V693Mhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.086 (benign), Testable gene in GeneTests with associated GeneReview
0.5SIX5-P635Shet unknown0.533Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.891 (probably damaging), 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
0.5PNMAL2-A599Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5PNMAL2-G570GRGhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PNMAL2-G163Shet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.929 (probably damaging)
0.5PNMAL2-G163Shet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.929 (probably damaging)
0.5DHDH-S66Nhet unknown0.545Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DHDH-Q233*het unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5DHDH-G282Rhet unknown0.093Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5FUT2-W154*homozygous0.364Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5FUT2-G258Shomozygous0.390Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.954 (probably damaging)
0.5ERCC2-K751Qhet unknown0.218Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ERCC2-D312Nhet unknown0.145Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.032 (benign), Testable gene in GeneTests with associated GeneReview
0.5ZNF224-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: 0
Polyphen 2: Unknown
0.5DEM1-L151Phet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.948 (probably damaging)
0.5WDR62-L850Shet unknown0.677Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5WDR62-Q1310Lhet unknown0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5WDR62-G1375Shet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5WDR62-L1390Fhomozygous0.736Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZNF793-I68Mhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ITPKC-G55Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.936 (probably damaging)
0.5PRX-G1132Rhomozygous0.978Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-I921Mhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-V882Ahet unknown0.493Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview
0.5FPR1-E346Ahomozygous0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-N192Khet unknown0.516Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-I11Thomozygous0.831Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF880-N106Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZNF880-N140NNhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZNF880-R198Shet unknown0.354Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF880-N202Hhet unknown0.292Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF880-Q406Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZNF880-K471Rhet unknown0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HSPG2-V4332Ihet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-A1503Vhet unknown0.777Unknown
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
0.5RRBP1-R891Lhet unknown0.228Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RRBP1-S766Lhet unknown0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RRBP1-L610Hhomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RRBP1-Q551Shifthet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5BPIL1-D359Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.924 (probably damaging)
0.5FAM65C-L580Phomozygous0.754Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAM65C-C566Shet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.881 (probably damaging)
0.5MMP9-Q279Rhomozygous0.477Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MMP9-R574Phomozygous0.813Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FERMT1-R526Khet unknown0.468Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FERMT1-R255Chet unknown0.069Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.5FERMT1-I160Thet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.004 (benign), Testable gene in GeneTests
0.5CRLS1-A20Thet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.012 (benign)
0.5CRLS1-P193Lhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
0.5NLRP2-T221Mhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5NLRP2-T529Ahet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LILRB3-R465Lhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5LILRB3-N252Dhomozygous0.963Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTPRH-I1076Vhet unknown0.402Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.97 (probably damaging)
0.5PTPRH-K823Ehomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTPRH-L543Fhet unknown0.113Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5PTPRH-D232Nhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.972 (probably damaging)
0.5AK094748-D110Ahomozygous0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AK094748-S134Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AK094748-S209Shifthet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AK094748-P208Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5FUCA1-P10Rhet unknown1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.894 (probably damaging), Testable gene in GeneTests
0.5FUCA1-R2Whet unknown0.079Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.928 (probably damaging), Testable gene in GeneTests
0.5SIGLEC1-A974Vhet unknown0.547Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.011 (benign)
0.5SIGLEC1-H919Phet unknown0.746Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SIGLEC1-R464Hhet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5SIGLEC1-K239Rhet unknown0.601Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SIGLEC1-V221Mhet unknown0.706Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.03 (benign)
0.5KRTAP4-12-E157Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5KRTAP4-12-C156Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5KRTAP4-12-PS153Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5GALC-T641Ahomozygous0.892Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GALC-D248Nhet unknown0.080Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.972 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GALC-A21Phet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.163 (benign), Testable gene in GeneTests with associated GeneReview
0.5RPGRIP1-K192Ehomozygous0.446Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RPGRIP1-E1033Qhomozygous0.256Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRP10-P358Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5LRRC16B-L1022Mhet unknown0.346Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LRRC16B-G1161Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.975 (probably damaging)
0.5PCK2-Q121Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TEP1-S1195Phet unknown0.703Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-R1055Chet unknown0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-N307Khet unknown0.369Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-S116Phomozygous0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRC50-K393Rhet unknown0.321Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.683 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5LRRC50-P502Lhet unknown0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5LRRC50-T590Mhet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.011 (benign), Testable gene in GeneTests with associated GeneReview
0.5LRRC50-L633Shet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRC50-L659Vhet unknown0.112Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5LRRC50-L659Phet unknown0.352Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRC50-S675Thet unknown0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5AX746649-Q132*het unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5SNX19-L878Rhomozygous0.808Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-N753Shet unknown0.617Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-L618Fhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-V361Lhomozygous0.671Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRG4-R180Whomozygous0.225Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5PRG4-T604Ahomozygous0.144Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRG4-C746Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5F7-R391Qhomozygous0.139Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GRASP-G362Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.497 (possibly damaging)
0.5GRASP-L365Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5VWA5A-R757Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.976 (probably damaging)
0.5COL2A1-V1331Ihet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL2A1-E142Dhet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL2A1-T9Shomozygous0.598Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VRTN-Q333Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5VRTN-Q334Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MLH3-N826Dhomozygous0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRSS38-A123Dhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
0.5PRSS38-M204Vhomozygous0.791Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SIPA1L1-F929Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.889 (probably damaging)
0.5ZFYVE26-S1893Ihet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.838 (possibly damaging), Testable gene in GeneTests
0.5ZFYVE26-N1891Shomozygous0.900Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FANCM-I208Mhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.548 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5NID2-G760Vhomozygous0.894Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NID2-S656Phomozygous0.859Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NID2-P529Shet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.871 (probably damaging)
0.5NID2-G453Dhomozygous0.545Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NID2-P22Qhomozygous0.728Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LAMC2-D247Ehet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.328 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5LAMC2-P808Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FAM71D-T197Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SYNE2-R1393Whet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.54 (possibly damaging), 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-S2802Ghomozygous0.864Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.5SYNE2-I2942Vhomozygous0.622Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-D3253Hhomozygous0.684Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests
0.5SYNE2-H3309Rhomozygous0.647Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5SYNE2-I4209Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.03 (benign), Testable gene in GeneTests
0.5SYNE2-N4418Khet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-L5186Mhet unknown0.708Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ASPM-L2647Ihet unknown0.198Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-S2562Ghet unknown0.212Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-Y2494Hhomozygous0.992Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-T665Ihet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-T1056Phomozygous0.838Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-C1506Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-M1808Ihomozygous0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLCO1B3-S112Ahomozygous0.646Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLCO1B3-M233Ihomozygous0.659Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.131 (benign)
0.5SLCO1B3-G256Ahet unknown0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
0.5NAV1-Q937Hhet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging)
0.5CDKN1B-V109Ghomozygous0.400Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests
0.5ATXN2-L107Vhomozygous0.311Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PLEKHG7-D99Ghet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5PLEKHG7-M212Thomozygous0.653Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.016 (benign)
0.5USH2A-E3411Ahomozygous0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-I2106Thet unknown0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-Y1992Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-R1486Khomozygous0.646Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview
0.5USH2A-S841Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-A125Thomozygous0.777Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TPO-A373Shomozygous0.188Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5TPO-S398Thomozygous0.684Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.988 (probably damaging), Testable gene in GeneTests
0.5TPO-V847Ahet unknown0.674Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5BEST3-Y43Hhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
0.5PTPRB-G180Shet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5BBS10-P539Lhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.19 (benign), Testable gene in GeneTests with associated GeneReview
0.5ACAD10-A911Vhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5IQCB1-C434Yhomozygous0.198Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5KRT6B-I365Vhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5HTR2A-H452Yhet unknown0.098Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.489 (possibly damaging)
0.5SUCLA2-S199Thomozygous0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FOXM1-P673Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.863 (probably damaging)
0.5VWF-T1381Ahet unknown0.754Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-Q852Rhet unknown0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-H484Rhomozygous0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.83 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5B3GALTL-E370Khomozygous0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.5HNF1A-A98Vhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HNF1A-S574Ghomozygous0.976Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HPD-T33Ahomozygous0.884Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZNF84-K550Rhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.982 (probably damaging)
0.5SACS-V3369Ahomozygous0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.769 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5SGCG-R116Hhet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests
0.5SGCG-N287Shomozygous0.843Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TSHR-E727Dhomozygous0.895Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5USP2-L72Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5USP2-L71Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MYO7A-L16Shet unknown0.550Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYO7A-S1666Chomozygous0.610Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYO7A-L1954Ihomozygous0.552Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ERCC4-R415Qhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging)
0.5ERCC4-I706Thet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.983 (probably damaging)
0.5MYH11-A1241Thomozygous0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC1-G671Vhet unknown0.016Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ABCC1-I1042Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ABAT-Q56Rhomozygous0.485Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CACNA1H-M313Vhet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.5CACNA1H-V664Ahet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.038 (benign)
0.5CACNA1H-R2060Hhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CACNA1H-R2077Hhet unknown0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5FANCI-A86Vhomozygous0.219Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCI-C742Shomozygous0.234Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCI-I877Lhet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PVRL4-P104Thet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5NR_027242-N339Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_027242-Q97Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NR_027242-L22Phet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LRRK2-R50Hhomozygous0.927Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-N551Khet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-R1398Hhet unknown0.123Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-M2397Thet unknown0.526Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-R1268Qhet unknown0.142Unknown
pharmacogenetic
Low clinical importance,
uncertain
This common polymorphism appears to not have a significant phenotypic impact. A few studies report weak but significant associations with plasma lipids (in Inuits) and thalidomide toxicity.
0.5ABCC6-R1064Whet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-M848Vhomozygous0.954Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-H632Qhet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-V614Ahet unknown0.354Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-R265Ghet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IGHMBP2-L201Shomozygous0.650Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IGHMBP2-I275Vhet unknown0.138Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IGHMBP2-R694Whet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IGHMBP2-T879Khet unknown0.185Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HYDIN-E4159Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HYDIN-A4025Thet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
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-V3898Mhet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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-R3480Whet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
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-T3115Rhet unknown0.250Unknown
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-K2529Ehet unknown0.053Unknown
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-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-I1533Vhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-P1491Hhet unknown0.347Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.994 (probably damaging)
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-T761Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
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)
0.5HYDIN-M15Thet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5HP-D70Nhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HP-K71Ehet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5BCAR1-R491Hhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5BCAR1-P76Shet unknown0.476Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GCSH-S21Lhomozygous0.750Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AIP-Q228Khomozygous0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AIP-Q307Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NQO1-R139Whet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.946 (probably damaging)
0.5SH2B1-T484Ahomozygous0.217Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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
0.5RPGRIP1L-D1264Nhet unknown0.103Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RPGRIP1L-T1143Shet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RPGRIP1L-G1025Shet unknown0.171Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH11-S373Ahet unknown0.659Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CDH11-V347Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5CETP-V422Ihomozygous0.494Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NDUFS2-P352Ahet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5SPG11-F463Shomozygous0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALG9-V289Ihomozygous0.332Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.907 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5STRC-R1521Qhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.009 (benign), 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
0.5ALPK3-R336Hhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5ALPK3-P1299Lhet unknown0.827Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DLAT-A43Vhomozygous0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DLAT-V318Ahomozygous0.587Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DLAT-D451Nhomozygous0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RPAP1-Q825Ehomozygous0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RPAP1-R582Ghet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5RPAP1-E506Khet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.906 (probably damaging)
0.5ATP10A-R1298Shet unknown0.450Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ATP10A-A1179Thet unknown0.326Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.108 (benign)
0.5ATP10A-E834Khet unknown0.074Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5ATP10A-S353Yhet unknown0.126Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.847 (possibly damaging)
0.5TRPM1-V1395Ihet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TRPM1-S32Nhomozygous0.786Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TRPM1-M1Thet unknown0.898Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
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)
0.5TTC12-M468Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ATM-D1853Nhet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATM-N1983Shomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DYNC2H1-H341Yhet unknown0.079Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.3 (possibly damaging), Testable gene in GeneTests
0.5DYNC2H1-T1096Ahet unknownUnknown
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-D2252Ehet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, 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
0.5NR2E3-T318Shifthomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.5HEXA-I436Vhomozygous0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ETFA-T171Ihet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5MEX3B-H133Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MEX3B-E132Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TYR-S192Yhet unknown0.217Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.919 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5FBN1-C472Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TRPC6-A404Vhet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.937 (probably damaging), Testable gene in GeneTests
0.5AMOTL1-G871Shifthet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5DUOX2-S1067Lhomozygous0.662Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DUOX2-P138Lhomozygous0.926Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC28A2-P22Lhomozygous0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC28A2-S75Rhomozygous0.253Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.375COL9A3-G17Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375COL9A3-A435Ehet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.568 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.375APC-V1822Dhet unknown0.887Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375APC-S2621Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDA-K27Qhet unknown0.190Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25AADACL3-S47Phet unknown0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25AADACL3-Q174*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25AADACL3-C195Fhet unknown0.649Unknown
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
0.25DRD3-G9Shet unknown0.482Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25TNFRSF1B-M196Rhet unknown0.206Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.986 (probably damaging)
0.25CPOX-N272Hhet unknown0.255Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.037 (benign), Testable gene in GeneTests
0.25CLCNKA-R83Ghet unknown0.653Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CLCNKA-A447Thet unknown0.688Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TMEM43-K168Nhet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.064 (benign), Testable gene in GeneTests with associated GeneReview
0.25TMEM43-M179Thet unknown0.487Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PINK1-N521Thet unknown0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CPS1-T344Ahet unknown0.583Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25CPO-M85Ihet unknown0.426Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.196 (benign), Testable gene in GeneTests
0.25CPO-S134Rhet unknown0.476Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CPT2-V368Ihet unknown0.477Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25STIL-H985Rhet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.648 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25STIL-A86Vhet unknown0.633Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FMO2-S195Lhet unknown0.465Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CYP4B1-R173Whet unknown0.184Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CTLA4-T17Ahet unknown0.463Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25LRP8-R952Qhet unknown0.130Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ABCB11-V444Ahet unknown0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25ITGA6-A380Thet unknown0.253Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LMNA-L15Phet unknown0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LMNA-M174Thet unknown0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NEUROD1-T45Ahet unknown0.754Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MERTK-R466Khet unknown0.550Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MERTK-I518Vhet unknown0.550Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MERTK-V870Ihet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DBT-S384Ghet unknown0.869Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FAAH-P129Thet unknown0.237Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25GGCX-R325Qhet unknown0.454Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25LDLRAP1-S202Phet unknown0.473Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.803 (possibly damaging), Testable gene in GeneTests
0.25ABCG8-Y54Chet unknown0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.01 (benign), Testable gene in GeneTests
0.25ABCG8-V632Ahet unknown0.908Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AY819761-T58Phet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25AY819761-*129Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25LBR-S154Nhet unknown0.713Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25RYR2-Q2958Rhet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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
0.25CACNA1S-L1800Shet unknown0.251Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SCN10A-M1713Vhomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SCN10A-L1092Phomozygous0.229Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SCN10A-V1073Ahomozygous0.797Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SCN10A-I962Vhet unknown0.198Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SCN10A-T709Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MOGS-P293Shet unknown0.619Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MOGS-D239Nhet unknown0.561Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.031 (benign), Testable gene in GeneTests with associated GeneReview
0.25HMCN1-I2418Thomozygous0.553Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests
0.25HMCN1-E2893Ghet unknown0.617Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.91 (probably damaging), Testable gene in GeneTests
0.25HMCN1-Q4437Rhet unknown0.547Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.25MLH1-I219Vhet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25COL9A2-Q326Rhet unknown0.403Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FSHR-S680Nhet unknown0.605Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FSHR-A307Thet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MCEE-A76Vhet unknown0.177Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FAM22A-K47Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25FAM22A-E519Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TH-V108Mhet unknown0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25C15orf2-K306Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25C15orf2-Q406Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLC28A1-L140LVhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLC28A1-V189Ihet unknown0.313Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC28A1-Q237Khet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC28A1-I290Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SERPINA1-E400Dhet unknown0.220Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25SERPINA1-R125Hhet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25SPATA7-V74Mhet unknown0.412Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PAX9-A240Phet unknown0.323Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SIX6-H141Nhet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.25TTC23-L13Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25TTC23-H12Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SLX4-P1122Lhet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25MFSD6L-P214Thet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.251 (possibly damaging)
0.25MFSD6L-S83Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ERBB2-I655Vhet unknown0.121Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.18 (benign)
0.25ERBB2-P1170Ahomozygous0.275Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.983 (probably damaging)
0.25CHRNB1-E32Ghet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.288 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25AIPL1-D90Hhet unknown0.210Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.029 (benign), Testable gene in GeneTests with associated GeneReview
0.25LITAF-I92Vhet unknown0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CD19-L174Vhet unknown0.876Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FANCA-G501Shet unknown0.654Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25C13orf40-K6544Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C13orf40-T6112Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C13orf40-R6075Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C13orf40-L6011PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C13orf40-F5916LhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C13orf40-R5838Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C13orf40-N5750ShomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C13orf40-R5644ThomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C13orf40-G5011Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C13orf40-S4943PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C13orf40-M4723Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C13orf40-A4221Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C13orf40-V3805IhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C13orf40-K3640Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C13orf40-D3446Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C13orf40-T3015IhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C13orf40-T2812PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C13orf40-G2410RhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C13orf40-E2111QhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C13orf40-A1822PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C13orf40-C1275*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25C13orf40-R1070Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C13orf40-L1005Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C13orf40-P773LhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C13orf40-I96Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C13orf40-C82Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ATP7B-V1140Ahet unknown0.495Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP7B-R952Khet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP7B-K832Rhet unknown0.455Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.461 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25ATP7B-V456Lhet unknown0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.25ATP7B-S406Ahet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25FGF23-T239Mhet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GYS2-M363Vhet unknown0.729Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SRPR-R471Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SRPR-A172Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CD3G-V131Fhet unknown0.265Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.773 (possibly damaging), Testable gene in GeneTests
0.25POLQ-A2547Vhet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25POLQ-Q2513Rhet unknown0.734Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25POLQ-I1421Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25POLQ-H1201Rhet unknown0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25POLQ-T982Rhet unknown0.703Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25POLQ-R66Ihomozygous0.973Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SERPING1-V480Mhet unknown0.108Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.25ARID2-V622Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ARID2-IK1060T*het unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.25PFKM-R100Qhet unknown0.164Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.01 (benign), Testable gene in GeneTests
0.25MMAB-M239Khet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC25A15-I254Lhet unknown0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KIAA1033-L200Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KIAA1033-V901Ihomozygous0.972Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CEP290-K838Ehet unknown0.108Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CELA1-Q243Rhet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CELA1-R44Whet unknown0.262Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CELA1-Q10Hhet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.463 (possibly damaging)
0.25CELA1-Y5Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CELA1-V3Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KRT5-D197Ehet unknown0.276Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.25KRT1-K633Rhet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KRT1-SSYGSGG557Delhet unknown0.426Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KRT14-A94Thet unknown0.269Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KRT14-C63Yhet unknown0.976Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ITGA2B-I874Shet unknown0.255Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PANK2-G126Ahet unknown0.917Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MKKS-G532Vhet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.067 (benign), Testable gene in GeneTests with associated GeneReview
0.25MKKS-R517Chet unknown0.215Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25TRIB3-Q84Rhet unknown0.188Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NLRP7-V319Ihet unknown0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25ZNF573-M465Vhomozygous0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZNF573-G166Ahet unknown0.091Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.905 (probably damaging)
0.25ZNF573-Q28Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CD3EAP-K428Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CD3EAP-Q504Khet unknown0.284Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25TMPRSS3-I253Vhet unknown0.282Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC19A1-H27Rhet unknown0.447Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25CACNA1F-R1930Hhet unknown0.104Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATRX-Q929Ehet unknown0.565Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ARSE-G424Shet unknown0.543Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25SCO2-R20Phet unknown0.690Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25LSS-S703Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25LSS-L642Vhet unknown0.789Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HPS4-Q620Hhet unknown0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25HPS4-H601Yhet unknown0.807Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HPS4-V547Mhet unknown0.780Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HPS4-E224Ghet unknown0.779Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25EP300-I997Vhet unknown0.176Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC7A9-L223Mhet unknown0.265Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.25SLC7A9-V142Ahet unknown0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MAN2B1-R337Qhet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.027 (benign), Testable gene in GeneTests with associated GeneReview
0.25MAN2B1-T312Ihet unknown0.324Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.045 (benign), 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
0.25UNC13D-K867Ehet unknown0.596Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TSEN54-E4Dhet unknown0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TSEN54-K347Nhet unknown0.430Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.968 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25TSEN54-A437Vhet unknown0.515Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25AXIN2-P50Shet unknown0.264Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ITGB3-L59Phet unknown0.109Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.02 (benign), Testable gene in GeneTests
0.25TBX4-A314Vhet unknown0.206Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.267 (possibly damaging), Testable gene in GeneTests
0.25ACOX1-I312Mhet unknown0.492Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SGSH-R456Hhet unknown0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SGSH-V361Ihet unknown0.109Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.049 (benign), Testable gene in GeneTests
0.25STXBP2-I526Vhet unknown0.725Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ICAM1-K469Ehet unknown0.297Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CD226-S307Ghet unknown0.423Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RAX-D44Ehet unknown0.189Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25DSG2-R773Khet unknown0.221Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25FAM59A-I812Vhet unknown0.060Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FAM59A-P512Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25GRP-R4Shomozygous0.724Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GRP-R141Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25RAG1-H249Rhet unknown0.615Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EFHC1-M448Thet unknown0.111Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.578 (possibly damaging), Testable gene in GeneTests
0.25ATP10B-S575Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ATP10B-C217Rhomozygous0.877Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FGFR4-P136Lhet unknown0.768Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FGFR4-G388Rhet unknown0.301Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.481 (possibly damaging)
0.25GM2A-I59Vhet unknown0.642Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GM2A-M69Vhet unknown0.826Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TCOF1-A41Vhet unknownDominant
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TCOF1-A1353Vhet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SRA1-V110RLhet unknown0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SH3TC2-A468Shet unknown0.198Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25GRM6-Q59Phet unknown0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ZNF204P-E93Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ZNF204P-K6Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KIF6-W719Rhet unknown0.538Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.25H19-G355Rhet unknown0.359Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25H19-V94Ihet unknown0.361Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25H19-W38Rhet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TULP1-K261Nhet unknown0.805Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TULP1-T67Rhet unknown0.877Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HLA-DPB1-LF37VYhet unknown0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HLA-DPB1-G40Lhet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HLA-DPB1-E62Qhet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.027 (benign)
0.25HLA-DPB1-F64Lhet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25HLA-DPB1-F64Yhet unknown0.175Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25HLA-DPB1-A65Vhet unknown0.549Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HLA-DPB1-A84Ehet unknown0.071Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HLA-DPB1-I94Lhet unknown0.076Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HLA-DPB1-K98Rhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25HLA-DPB1-G113Dhomozygous0.458Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HLA-DPB1-GP114EAhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25HLA-DPB1-M116Vhomozygous0.535Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25HLA-DPB1-R125Khomozygous0.512Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HLA-DPB1-T199Ihomozygous0.532Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.014 (benign)
0.25HLA-DPB1-V234Mhet unknown0.150Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HLA-DPB1-*259Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MICA-L145Vhet unknown0.191Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-G198Shet unknown0.337Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-T204Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MICA-I236Thet unknown0.570Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-R274Qhet unknown0.538Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-G318Shifthet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25TAP2-*703Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TAP2-R651Chet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25IL13-Q144Rhet unknown0.766Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25WDR36-I264Vhet unknown0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25WDR36-A449Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.057 (benign), Testable gene in GeneTests
0.25TLR1-S602Ihet unknown0.727Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TLR1-N248Shet unknown0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25TLR6-S249Phet unknown0.855Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25IDUA-H33Qhet unknown0.750Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.25CLCN2-T668Shet unknown0.378Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC2A2-T110Ihet unknown0.234Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MCCC1-H464Phet unknown0.408Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25UGT2B7-Y268Hhet unknown0.727Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SHROOM3-G279Ahet unknown0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SHROOM3-S325Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SHROOM3-P469Ahet unknown0.437Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GHR-I544Lhet unknown0.473Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.25ARSB-V358Mhet unknown0.249Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.117 (benign), Testable gene in GeneTests
0.25TIGD4-I439Vhet unknown0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TIGD4-R281*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25BBS12-R386Qhet unknown0.515Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.25MTTP-Q95Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MTTP-I128Thet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MTTP-H297Qhet unknown0.636Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MANBA-T701Mhet unknown0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MANBA-V253Ihet unknown0.343Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25AK298931-E88QhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25AK298931-W38*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25AK298931-T4Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PEX6-P939Qhet unknown0.339Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PALM2-AKAP2-P648Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PALM2-AKAP2-L792Shet unknown0.457Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PALM2-AKAP2-A881Vhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SARDH-M648Vhet unknown0.599Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SARDH-R614Hhet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.057 (benign), Testable gene in GeneTests
0.25FAM166B-Y241Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25FAM166B-R30Whet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GPT-H14Nhet unknown0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NBN-E185Qhet unknown0.338Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25EPPK1-L2398Vhet unknown0.291Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25EPPK1-R2215Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25EPPK1-D2213Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25EPPK1-T1507Ahomozygous0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25EPPK1-D676Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25EPPK1-P675Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25EPPK1-K544Ehomozygous0.512Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25EPPK1-D202Nhomozygous0.447Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NOXA1-P286Lhomozygous0.184Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.037 (benign)
0.25NOXA1-Q422Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MYO3A-R319Hhet unknown0.376Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO3A-I348Vhomozygous0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO3A-V369Ihet unknown0.642Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO3A-S956Nhet unknown0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO3A-R1313Shet unknown0.620Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CALHM1-L86Phet unknown1.000Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ACADSB-R13Khet unknown0.171Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.08 (benign), Testable gene in GeneTests
0.25PDE6C-S270Thet unknown0.419Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LIPA-G23Rhet unknown0.139Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25LIPA-T16Phet unknown0.251Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25MASTL-P620Ahet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.923 (probably damaging), Testable gene in GeneTests
0.25ERCC6-G399Dhet unknown0.246Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BMPR1A-P2Thet unknown0.549Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CNGB3-T298Phet unknown0.681Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview
0.25CNGB3-C234Whet unknown0.939Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ABCB1-S893Ahet unknown0.625Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GARS-P42Ahet unknown0.654Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SFTPC-S186Nhet unknown0.222Unknown
not reviewed
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-R558Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ENPP1-A124Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.25ENPP1-R774Chet unknownUnknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.746 (possibly damaging), Testable gene in GeneTests
0.25C6orf150-P261Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C6orf150-A167Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25C6orf150-T35Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25FIG4-V654Ahet unknown0.467Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25WISP3-Q74Hhet unknown0.334Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GLI3-P998Lhet unknown0.444Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MSR1-P275Ahet unknown0.184Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.25LGI3-V510Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25LGI3-R358Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C8orf49-G26RhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C8orf49-I81Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C8orf49-C194*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25REPIN1-L71Phet unknown0.646Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25REPIN1-R149Hhet unknown0.262Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25REPIN1-A154Vhet unknown0.315Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25REPIN1-R591Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NOS3-D298Ehet unknown0.844Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25COL1A2-P549Ahet unknown0.907Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0BTD-D444Hhet unknown0.007Recessive
pathogenic
Low clinical importance,
well-established
This variant is implicated in partial and profound biotinidase deficiency. Alone, this variant is estimated to have a 52% loss of enzymatic activity. This variant is often found with A171T, and together they are reported to cause profound deficiency. Notably there is a report of asymptomatic double-mutant adults, so symptoms may have variable penetrance. This variant is found compound heterozygously with more serious mutations in cases of partial biotinidase deficiency.
0HFE-H63Dhet unknown0.086Recessive
pathogenic
Low clinical importance,
uncertain
There have been some hypotheses that this variant contributes to causing hereditary hemachromatosis, possibly as a compound heterozygote, but some others treat it as a polymorphism. Cys282Tyr is the classic causal variant and itself has very low penetrance. Mouse studies indicates this variant has a similar but weaker effect; if it has any effect at all its penetrance may be quite low and/or require modifier alleles.
0ACAD8-S171Chet unknown0.023Recessive
pathogenic
Low clinical importance,
uncertain
This variant (a.k.a S149C) was found as a compound heterozygote (with M130T) in a male newborn of European descent with isobutyryl-CoA dehydrogenase deficiency (identified by newborn screening). Lack of controls means that significance cannot be established and allele frequency cannot be estimated. Oglesbee et al. comment that IBD-deficiency may be relatively benign, most cases identified by newborn screening have remained asymptomatic, but Ferreira et al. report a symptomatic individual homozygous for this variant.

Input file format: CGIVAR

Genome build: b37

Genome coverage: 2,748,962,118 bases (97.1% of callable positions, 90.9% of total positions)

Coding region coverage: 32,873,673 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

Gene search

"GENE" or "GENE A123C":

Log in