hu8E87A9 - GET-Evidence variant report

Variant report for hu8E87A9

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
2CFTR-S1235RModerateUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.00529838Reported to cause mild dysfunction of the cystic fibrosis gene, it may result in cystic fibrosis when combined with more severe variants.1
3MSR1-R293XLowLikelyLikely pathogenic

Dominant, Heterozygous
0.00743633Associated with increased risk of Barrett's esophagus and/or esophageal cancer. Our very rough estimate is that the increased risk may be around 4x (25% risk of Barrett's esophagus, assuming population average is 5%, and 1.2% lifetime risk of esophageal cancer compared to average .4% risk).1
4ELAC2-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
5WFS1-R611HLowUncertainUncertain not reviewed

Recessive, Carrier (Heterozygous)
0.400446This nonsynonymous SNP is associated with Wolfram Syndrome (known as DIDMOAD), which is characterized by early-onset non-autoimmune diabetes mellitus, diabetes insipidus, optic atrophy, and deafness) and to adult Type Two Diabetes Mellitus. The WFS1 gene maps to chromosome 4p16.3. The variant has been shown to be statistically associated with type II diabetes in six UK studies and one study of Ashkenazi Jews (Sandhu, M., et al., Minton et al.).1
6TP53-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
7ERCC6-R1213GLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.196877When homozygous, this variant may cause Cockayne Syndrome, which is a severe autosomal-recessive disorder characterized by abnormal early growth and development, abnormal sensitivity to sunlight, and premature aging. Cockayne Syndrome Type I and Type II lead to death in early childhood. Several other variants in the ERCC6 gene are linked to Cockayne Syndrome. This variant may also be linked to age-related macular degeneration like other ERCC6 variants, and has been linked to colorectal cancer in one study. 1
8MEFV-R408QLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.00501952This variant is associated with Familial Mediterranean Fever, it has generally been reported in cis with other variants. Sugiura et al. conclude that this variant may be weakly involved with the disease.1
9MEFV-P369SLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.00511247Weak evidence associating this with familial mediterranean fever, but there is a fairly high frequency of this allele. This variant might cause increased susceptibility to the disease but there is not enough evidence to be significant.1
10DYX1C1-E417XLowUncertainUncertain pathogenic

Unknown, Heterozygous
0.20147One study reports this variant to be associated with dyslexia. The study group was relatively small and so the results did not have strong significance. If they are representative this variant is associated with a doubled risk for dyslexia, but it is unclear whether the effect would be additive, dominant, or recessive.1
11SP110-L425SLowUncertainUncertain pathogenic

Unknown, Homozygous
0.863357This variant is associated with a slightly increased risk of tuberculosis. It is unclear whether it is itself causal, or in linkage disequilibrium with some other causal variant that has a stronger effect.1
12FUT2-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
13CFH-V62ILowLikelyLikely protective

Complex/Other, Heterozygous
0.391616Associated with a decreased risk for age related macular degeneration (ARMD). Homozygotes for this have a 4-5% decreased attributable risk (3-4% vs. average 8% risk), heterozygotes have slightly lower than average risk (7%). Non-carriers have an increased risk (12-13%). ARMD impairs sharp vision as age progresses. While there is no cure, treatment can slow progression of the disease and environmental factors (smoking and obesity) contribute to higher risk.1
14NPC1-H215RLowLikelyLikely protective

Complex/Other, Homozygous
0.295687This variant is associated with a reduced risk of obesity, with an additive effect of -0.084 BMI per allele (an average of 0.54 pounds less, per allele, in a 5'6" individual). 1
15KCNJ11-K23ELowLikelyLikely protective

Unknown, Heterozygous
0.738148This variant is associated with decreased risk of type 2 diabetes. It is unclear whether this variant has additive effects, or acts in a dominant or recessive manner. Assuming diabetes has a lifetime risk of 36%, we estimate a decreased risk of around 1-2% per copy of this variant.1
16MTR-D919GLowUncertainUncertain protective

Complex/Other, Heterozygous
0.217234This variant was weakly associated with a protective effect vs. colorectal cancer, but only in individuals with low alcohol consumption. 1
17IRS2-G1057DLowUncertainUncertain protective

Unknown, Homozygous
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
18LPL-S474XLowUncertainUncertain protective

Unknown, Heterozygous
0.0844953This variant actually increases LPL enzyme activity despite creating a termination codon (see Rip J et al). It appears to be a protective variant, associated with lower triglyceride levels--although the effect is quite weak and explains only 0.5-1% of triglyceride variation.1
19BRCA2-T1915MLowUncertainUncertain protective

Unknown, Heterozygous
0.0205429Serrano-Fernández et al. found this variant to be associated with a modest (OR = 1.61) but significant (P = 0.0007) reduction in breast cancer risk. 1
20CACNA1S-L458HLowLikelyLikely benign

Unknown, Heterozygous
0.27282Common polymorphism1
21PMS2-P470SLowLikelyLikely benign

Unknown, Homozygous
0.374884Benign, common variant.1
22ADA-K80RLowLikelyLikely benign

Recessive, Carrier (Heterozygous)
0.0635806This variant has a 3.5% allele frequency in 1000 genomes data. Although OMIM links this to disease, the paper they reference uses in vitro data to conclude that this is a functionally neutral polymorphism.1
23MLH1-I219VLowUncertainUncertain benign

Dominant, Heterozygous
0.239822Computational evidence, functional assays, and case/control studies suggest this variant is probably benign.1
24LOXL1-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
25PALB2-E672QLowUncertainUncertain benign

Unknown, Heterozygous
0.0244469Probably benign.1
26CYP27A1-P384LLowUncertainUncertain benign

Unknown, Heterozygous
0.0177542Probably not pathogenic. Although predicted to be disruptive and treated by some as pathogenic, reports of this variant in cases were all linked with an upstream frameshift variant -- this supports the variant as a nonpathogenic ancestral polymorphism.1
27APOB-Y1422CLowUncertainUncertain benign

Unknown, Homozygous
0.999628This position is almost certainly an error in the HG18 reference sequence. 1
28PCSK9-G670ELowUncertainUncertain benign

Unknown, Homozygous
0.888269This variant is likely benign. 1
29GALT-N314DLowUncertainUncertain benign

Unknown, Heterozygous
0.0716676This variant has an allele frequency of ~8% and is ancestral to "Duarte" / "Duarte 2" and "Duarte 1"/"Los Angeles" galactosemia variants. This variant is evolutionarily ancestral, and in vitro studies fail to support an impact of this variant on enzyme activity. Carney et al. instead implicate a 4 base deletion on the 5' of the GALT gene as being causal and linked to this variant. Galactosemia is typically screened and detected in infants and causes early, severe but nonspecific symptoms (digestive problems, lethargy, failure to thrive).1
30RP1-N985YLowUncertainUncertain benign

Unknown, Heterozygous
0.348671Probably benign. One report linked this variant to high triglycerides, but a later paper found a nearby SNP with similar association and suggests that both findings are caused by linkage to an undiscovered causal variant.1
31TYR-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
32RAPSN-R58CLowUncertainUncertain benign

Unknown, Heterozygous
0.0778026Reported as non-pathogenic polymorphism. 1
33SLC45A2-L374FLowUncertainUncertain benign

Unknown, Homozygous
0.691764Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma.1
VariantPrioritization scoreAllele
freq
Num of
articles
Zygosity and Prioritization Score Reasons

Exome coverage: 32889859 / 33212919 = 99.03%

GeneChromosomeCoverageMissingLengthMissing regions
1AGRN10.962691430433372296138955553-955622, 955653-955659, 955662, 976234, 976253, 981975, 983600-983745, 986833-986834
2GABRD10.966151582045624613591950863-1950884, 1950890, 1950893-1950895, 1950904, 1950907-1950913, 1950917-1950928
3ESPN10.9434697855750514525656488386-6488393, 6500386-6500392, 6500709-6500715, 6500864-6500868, 6501097-6501103, 6505848-6505854, 6505858, 6505862, 6505914-6505937, 6508760-6508766, 6508828-6508857, 6511907-6511933, 6512127-6512133, 6517294-6517300
4PLEKHG510.978363123236126931896534095, 6534113-6534116, 6534119-6534132, 6534151, 6534197-6534200, 6534519-6534526, 6534539, 6534542, 6534549-6534551, 6534559-6534568, 6534609, 6534613, 6534632-6534647, 6557380-6557383
5KIF1B10.999623564840962531310425584-10425585
6PEX1410.999118165784831113410684446
7MASP210.998059194565744206111094886-11094889
8MTHFR10.997970573313044197111853983-11853986
9PLOD110.9917582417582418218411994846-11994848, 11994851-11994865
10CLCNKA10.9898255813953521206416354391-16354397, 16358268-16358274, 16360141-16360147
11CLCNKB10.9932170542635714206416373044-16373050, 16383399-16383405
12HSPG210.99468731026108701317622200910-22200916, 22263648-22263710
13WNT410.9270833333333377105622469339-22469415
14SEPN110.88609112709832190166826126722-26126904, 26139228-26139234
15KCNQ410.999521072796931208841249818
16SLC2A110.999323867478031147943396792
17MPL10.998427672955973190843818343, 43818348, 43818356
18DHCR2410.998710509348812155155352606, 55352748
19PCSK910.9947089947089911207955505553-55505555, 55505561-55505568
20ALG610.9915032679738613153063885058-63885070
21RPL510.99217002237136789493307416-93307422
22DPYD10.998700454840814307897771777, 97847949-97847950, 97847971
23COL11A110.98808869342129655457103364222-103364253, 103364258-103364269, 103364272, 103364280, 103364294-103364303, 103435800-103435808
24GSTM110.49315068493151333657110230502-110230512, 110230524-110230531, 110230792-110230812, 110230839, 110230841, 110230854, 110230858, 110231302, 110231319, 110231691, 110231714, 110231721, 110231724-110231726, 110231847-110231873, 110231880-110231947, 110232893-110232988, 110233076-110233164, 110233175
25CASQ210.9991666666666711200116244025
26HSD3B210.9937444146559471119119965218-119965224
27NOTCH210.975593311758361817416120539665-120539714, 120539739-120539745, 120539778-120539784, 120539913-120539919, 120539933-120539955, 120547962-120547968, 120548022-120548058, 120548091-120548097, 120572544-120572575, 120611964, 120612003-120612004, 120612006
28FLG10.9228623010011594012186152276114, 152276149, 152276193-152276199, 152276279-152276322, 152276345-152276389, 152276441-152276470, 152276523-152276529, 152276582-152276583, 152276598, 152276616, 152276626-152276628, 152276656-152276702, 152276761-152276762, 152276770, 152276772, 152276777, 152276782, 152276797-152276801, 152276820-152276826, 152276848, 152276855, 152276865, 152276871, 152276886-152276895, 152276907, 152276991-152276997, 152277014, 152277021, 152277027, 152277035, 152277044, 152277055, 152277081-152277109, 152277121, 152277128, 152277137, 152277149, 152277152-152277153, 152277156, 152277159, 152277168, 152277315, 152277320, 152277336, 152277340, 152277345, 152277363-152277365, 152277371, 152277396, 152277433-152277448, 152277509-152277515, 152277668-152277674, 152277717, 152277881-152277887, 152278047-152278049, 152278083-152278096, 152278238-152278245, 152278303-152278309, 152278398-152278437, 152278481-152278487, 152278555, 152278689, 152278811-152278817, 152278853-152278879, 152279016-152279022, 152279207-152279217, 152279453-152279459, 152279524-152279530, 152279721, 152279729, 152279744, 152279760, 152279778-152279805, 152279892, 152279910, 152280347, 152280468-152280474, 152280556-152280576, 152280594-152280617, 152280643-152280654, 152280682-152280694, 152280736, 152280759, 152280900, 152281039, 152281205-152281231, 152281520-152281565, 152281621-152281649, 152281690-152281691, 152281707, 152281728, 152281745, 152281748-152281749, 152281752, 152281758, 152281836-152281860, 152281872-152281914, 152281948-152281949, 152282349-152282355, 152283407-152283433, 152283464-152283470, 152283565-152283571, 152283862, 152283928, 152283935, 152283944, 152283956, 152283959-152283960, 152283963, 152283966, 152283975, 152284374-152284398, 152284421-152284427, 152284475-152284481, 152284803-152284817, 152284890-152284896, 152285099, 152285137, 152285450-152285456, 152285730-152285736, 152285841-152285880
29HAX110.996428571428573840154245864-154245866
30KCNJ1010.9964912280701841140160012060-160012063
31MPZ10.9806949806949815777161276175-161276189
32TBX1910.98292501855976231347168274313-168274335
33F510.99730337078652186675169510380, 169510502, 169510515, 169510524, 169510634-169510640, 169511618-169511624
34HMCN110.99994085639934116908186121956
35CFH10.98079004329004713696196658725-196658744, 196712582-196712589, 196716353-196716395
36CFHR110.998992950654581993196797244
37USH2A10.999103081555511415609215847442-215847447, 215990441, 216061812-216061815, 216595497-216595499
38GJC210.95530303030303591320228345584, 228345759, 228345766, 228346038-228346039, 228346055-228346067, 228346079-228346096, 228346099-228346100, 228346107-228346123, 228346162, 228346399-228346400, 228346408
39LYST10.99991232684552111406235897889
40RYR210.996309715512615514904237821244-237821273, 237821284-237821308
41GATA3100.99925093632959113358100743
42DCLRE1C100.9889369889369923207914976440, 14981847-14981868
43CUBN100.9991721854304691087216957889-16957892, 17142082-17142085, 17142093
44PTF1A100.958459979736584198723481947-23481987
45MYO3A100.9973201401772813485126355992, 26359295-26359306
46MASTL100.9958285930982211263727458976-27458980, 27458983, 27459008-27459012
47RET100.9781763826606973334543572707-43572779
48ERCC6100.999776885319051448250736475
49CHAT100.94125500667557132224750822269-50822272, 50822281-50822328, 50822330-50822336, 50822339-50822343, 50822356-50822357, 50822360-50822425
50PCDH15100.999490575649523588955587243, 55721512, 56138671
51CDH23100.99811058074781191005673405630, 73567277-73567294
52GLUD1100.995825879546817167788836362-88836368
53ANKRD1100.982291666666671796092680054-92680070
54PLCE1100.99884209002758690996006326-96006333
55COX15100.9975669099756731233101476165-101476167
56FBXW4100.9975786924939531239103454358-103454360
57SUFU100.97388316151203381455104263971-104264002, 104353443-104353445, 104353452-104353454
58COL17A1100.99777481085892104494105816803-105816806, 105816810-105816815
59BAG3100.9953703703703781728121431966-121431973
60FGFR2100.9991879821356122463123274648-123274649
61HTRA1100.93416493416493951443124221169-124221261, 124221310, 124221329
62SLC25A22110.9711934156378628972792611-792628, 792634-792643
63PNPLA2110.99669966996751515819867, 819874-819877
64CTSD110.966908797417274112391785036-1785072, 1785086-1785089
65CDKN1C110.93796004206099599512905950-2905958, 2906015, 2906066, 2906089, 2906092-2906110, 2906161-2906167, 2906174, 2906187, 2906190, 2906193-2906208, 2906225, 2906431
66SBF2110.996756756756761855509809192-9809207, 9985341-9985342
67ANO5110.970824215900880274222276961-22276966, 22276971-22277032, 22277043-22277050, 22277065-22277068
68ALX4110.993527508090618123644331359-44331366
69PEX16110.999039385206531104145937373
70SERPING1110.9866932801064520150357365747-57365756, 57365775-57365784
71GIF110.996012759170655125459599166-59599170
72BEST1110.998862343572242175861725752-61725753
73BSCL2110.994960403167757138962457918-62457923, 62472932
74SLC22A12110.995186522262338166264367266-64367273
75BBS1110.997755331088664178266299433-66299436
76AIP110.99798590130916299367257559, 67257562
77LRP5110.9890676567656853484868080198, 68080201, 68080212-68080242, 68080245-68080246, 68205981-68205998
78IGHMBP2110.991616364855825298268704532-68704556
79DHCR7110.997899159663873142871146577-71146579
80MYO7A110.9975932611311716664876922280-76922295
81DYNC2H1110.996523754345314512945102984321-102984323, 102984331, 102984335, 102984338, 102988554-102988556, 102991522, 103043832-103043861, 103044027, 103062336, 103070095, 103130624, 103130630
82ATM110.99236724457529709171108126966, 108126979-108127033, 108127060-108127067, 108159801, 108159809-108159812, 108204667
83DLAT110.9917695473251161944111899574-111899589
84CACNA2D4120.99912126537786334141902901-1902903
85VWF120.9741767353707721884426122647-6122650, 6125328-6125344, 6127532-6127538, 6127637-6127661, 6127865-6127894, 6127919, 6127943, 6128064-6128105, 6128167-6128173, 6128339-6128345, 6128449-6128451, 6128784-6128790, 6131925-6131932, 6131955-6131982, 6132003-6132033
86TNFRSF1A120.99926900584795113686438579
87ATN1120.98768541841594435737045587-7045591, 7045892-7045929, 7045933
88GYS2120.9824810606060637211221712032-21712033, 21712045-21712079
89KIF21A120.99979943842761498639709042
90LRRK2120.9891877637130882758440753145-40753160, 40761483-40761548
91COL2A1120.999103942652334446448373345-48373347, 48381096
92MLL2120.99638858793788601661449426568-49426574, 49426625-49426628, 49426677-49426679, 49426752, 49427025, 49427035-49427049, 49427256-49427265, 49427661, 49427666-49427676, 49427680, 49442988-49442993
93TUBA1A120.98464912280702745649522235-49522241
94KRT81120.9934123847167310151852682999-52683005, 52685096, 52685189-52685190
95KRT86120.9904175222450414146152695851-52695857, 52697949-52697955
96KRT6B120.91858407079646138169552841323-52841344, 52843282-52843288, 52843578-52843584, 52843632-52843637, 52844243, 52844246, 52844265, 52844380-52844383, 52845365-52845371, 52845432-52845438, 52845528-52845534, 52845571-52845604, 52845662-52845686, 52845797-52845805
97KRT6C120.93982300884956102169552863210-52863216, 52865295-52865300, 52865918, 52865925, 52866019-52866020, 52866024, 52867024-52867030, 52867094, 52867105, 52867187-52867193, 52867230-52867263, 52867321-52867346, 52867456-52867463
98KRT6A120.93628318584071108169552881853-52881874, 52882264-52882270, 52884735, 52886553-52886559, 52886638-52886644, 52886681-52886714, 52886772-52886793, 52886907-52886914
99KRT5120.998871968415122177352908872, 52908894
100KRT1120.9741602067183550193553069117-53069139, 53072483, 53072486-53072510, 53072515
101AAAS120.995734308348577164153702772-53702778
102SUOX120.9896214896214917163856398164-56398180
103RPS26120.97988505747126734856437251-56437257
104CEP290120.9913978494623764744088443164-88443167, 88443177, 88472955-88472968, 88481590, 88481593-88481594, 88481597, 88481695-88481707, 88490735, 88512425-88512426, 88513969-88513977, 88514012, 88522772-88522786
105ATXN2120.98351090816844653942112036755-112036817, 112036929, 112037027
106TBX5120.9993577392421311557114804071
107HNF1A120.9963080168776471896121434149-121434155
108ATP6V0A2120.9996110462854912571124209263
109FREM2130.999684542586753951039261568-39261570
110TNFSF11130.9937106918239695443148495-43148500
111RB1130.999641191245071278748947626
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339FGG40.999265785609411362155531336
340LRAT40.988455988455998693155670230-155670237
341GLRB40.994645247657381494158041717, 158041721-158041727
342GK40.97472924187726421662166199342-166199348, 166199389-166199390, 166199600-166199610, 166199760-166199767, 166199807-166199813, 166200150-166200156
343SDHA50.924310776942361511995223682-223683, 224475, 228359-228399, 236646-236681, 251143-251149, 251538-251545, 251562-251583, 254571-254602, 256472, 256509
344TERT50.995292733156811633991295065-1295076, 1295080-1295082, 1295094
345SDHA50.9785932721712573271593261-1593267
346DNAH550.99646846846847491387513729628, 13916457-13916504
347NIPBL50.98704693998812109841537036481-37036500, 37036517-37036523, 37036527-37036584, 37048622, 37048649-37048663, 37048667-37048669, 37048672-37048676
348OXCT150.999360204734481156341862778
349ITGA250.9929498025944725354652285336-52285342, 52366076-52366086, 52371089-52371095
350NDUFAF250.98627450980392751060448726-60448732
351SMN250.974011299435032388569362949, 69365094-69365115
352SMN250.974011299435032388570238373, 70240517-70240538
353AP3B150.999391171993912328577523355-77523356
354VCAN50.9999018742027311019182808180
355RASA150.9456106870229171314486564562, 86637119-86637125, 86665643-86665646, 86669980-86670137, 86674321
356GPR9850.99772739284393431892189925247-89925253, 90007001-90007004, 90015988-90015996, 90074781, 90074786, 90124807, 90144584, 90144587-90144588, 90144595, 90144598-90144609, 90144616, 90144620-90144622
357PCSK150.999115826702032226295746581-95746582
358WDR3650.9975490196078472856110438091-110438097
359APC50.99871073605251118532112111326, 112111349-112111351, 112128171-112128177
360FBN250.99450738070717488739127614431-127614434, 127614472, 127654652-127654693, 127664429
361TGFBI50.999512670565312052135364878
362MYOT50.9966599866399551497137221791, 137221804, 137221820, 137223000-137223001
363MATR350.9972484276729672544138661877-138661883
364NDUFA250.979300140027140-140027148
365DIAPH150.99633411887929143819140907263-140907264, 140953564-140953572, 140960417-140960419
366POU4F350.9990167158308811017145719303
367GRM650.97380410022779692634178421664, 178421670-178421694, 178421902-178421944
368FOXC160.99699157641396516621610805, 1610809-1610812
369TUBB2B60.99925261584454113383225457
370DSP60.99976787372331286167564004-7564005
371DTNBP160.999053030303031105615523259
372ATXN160.95588235294118108244816327856-16327959, 16328029-16328032
373HLA-H60.986666666666671075029856389, 29856480-29856486, 29856508, 29856546
374TNXB60.9606013478486376192931976916, 31976926, 31977388-31977394, 31977995-31978001, 31978498-31978517, 31978782-31978789, 31979422-31979453
375CYP21A260.9845430107526923148832006222-32006225, 32006317, 32006337, 32007843-32007852, 32007905-32007911
376TNXB60.99442218556053711272932009648-32009664, 32010123-32010129, 32010729-32010735, 32011235, 32011248, 32011641-32011647, 32012276-32012306
377HLA-DQA160.916666666666676476832609091-32609129, 32609169, 32609181, 32609312, 32609965, 32610387-32610406, 32610535
378HLA-DQB160.7519083969465619578632629124-32629173, 32629224-32629234, 32629799-32629812, 32629868, 32629963, 32632575-32632653, 32632703, 32632742-32632749, 32632767-32632783, 32632795, 32632817-32632821, 32632832, 32634288-32634293
379COL11A260.9930915371329936521133140131-33140135, 33140381-33140411
380SYNGAP160.94444444444444224403233388042-33388108, 33393580, 33393615-33393656, 33393673-33393680, 33411513, 33411543, 33411548, 33411552, 33411564-33411665
381PEX660.9928644240570821294342946463-42946466, 42946522-42946538
382RUNX260.9712643678160945156645390436-45390440, 45390445-45390483, 45390510
383MUT60.997336884154466225349409564, 49409653-49409654, 49409667-49409669
384EYS60.9980922098569218943564940572, 64940575-64940580, 65016881-65016887, 65596590-65596593
385LMBRD160.998767714109672162370410760-70410761
386RIMS160.999803110848591507973108738
387SLC17A560.999327956989251148874351534
388LCA560.993791786055413209480198855-80198867
389BCKDHB60.994062765055137117980881060-80881066
390FIG460.999632892804712724110081478
391GJA160.9939077458659771149121768922-121768928
392LAMA260.9997863932500329363129513906-129513907
393ENPP160.99460043196544152778132171184, 132171187-132171190, 132171204-132171210, 132171214, 132203550, 132203569
394PEX760.9485596707818950972137167221-137167270
395PEX360.9973262032085631122143810330-143810332
396IYD60.9873563218390811870150719231-150719241
397SYNE160.99977267560809626394152545675, 152583269, 152774735-152774738
398TBP60.901960784313731001020170871010-170871109
399LFNG70.91403508771939811402559496-2559545, 2559560, 2559572, 2559593, 2559602-2559613, 2559619, 2559636-2559645, 2559665-2559674, 2559677, 2559680-2559683, 2559725-2559727, 2559881, 2565103, 2565319-2565320
400PMS270.98686751641563425896029441-6029467, 6045523-6045529
401TWIST170.750410509031215260919156793-19156944
402DNAH1170.99749484232243341357221630571-21630577, 21630923, 21630926-21630942, 21630945, 21894066-21894073
403FAM126A70.9929757343550411156623017904-23017907, 23017910-23017916
404HOXA1370.83290488431877195116727239309, 27239329-27239331, 27239338-27239460, 27239472-27239475, 27239516-27239579
405BBS970.999624624624621266433303956
406TXNDC370.9835880022637229176737901677-37901705
407CCM270.9775280898876430133545039933-45039962
408EGFR70.997797963115888363355086986-55086987, 55086994, 55087010-55087011, 55087015-55087017
409SBDS70.99070385126162775366456158-66456164
410NCF170.94303030303034782572639957-72639989, 72640033-72640039, 72644230-72644236
411FKBP670.987804878048781298472742432-72742443
412ELN70.999540229885061217573442561
413NCF170.993179880647918117374193665-74193671, 74203003
414HGF70.991769547325118218781399265-81399282
415AKAP970.99385875127943721172491609603-91609606, 91609614-91609646, 91625055, 91694646-91694647, 91707079-91707085, 91709053-91709064, 91709090-91709093, 91709111-91709113, 91709121-91709125, 91714911
416PEX170.999740394600211385292136398
417COL1A270.998049256278968410194030914-94030920, 94030931
418CFTR70.971415710105781274443117188713-117188753, 117188760-117188800, 117188842-117188877, 117235028-117235029, 117235055-117235061
419AASS70.9992808342322922781121769565, 121769570
420PAX470.98449612403101161032127255533-127255548
421IMPDH170.9988888888888921800128049847-128049848
422ATP6V0A470.951644867221561222523138394369-138394450, 138394458-138394497
423BRAF70.998696219035232301140624408-140624410
424PRSS170.83467741935484123744142458406-142458454, 142459625-142459629, 142459664-142459682, 142459823-142459830, 142460313, 142460335, 142460339, 142460366-142460397, 142460798-142460804
425CLCN170.9993259184361322967143017836-143017837
426CNTNAP270.9977477477477593996145813984-145813988, 145813994-145813997
427KCNH270.98132183908046653480150644698-150644713, 150644724-150644732, 150644747, 150648901-150648904, 150648909, 150671882-150671889, 150674976-150675001
428SHH70.9949604031677571389155595780-155595781, 155595802-155595806
429MNX170.864842454394691631206156799264-156799291, 156802527-156802529, 156802644-156802646, 156802657-156802774, 156802780-156802781, 156802787, 156802800, 156802804, 156802907-156802911, 156802925
430ADAM980.997154471544727246038934851-38934857
431ANK180.998946259220236569441566375-41566380
432HGSNAT80.9900419287211719190842995697-42995715
433CHD780.9994440738275899461734587-61734589, 61734596, 61769205
434NBN80.999558498896251226590960113
435TMEM6780.998661311914324298894768006-94768007, 94777818, 94792966
436GDF680.999269005847951136897157419
437VPS13B80.99933299983325811994100123431, 100123451-100123457
438KCNQ380.9977090492554462619133492749, 133492758, 133492775-133492778
439CYP11B180.96230158730159571512143957128-143957132, 143958513-143958533, 143958572-143958602
440CYP11B280.96759259259259491512143993948-143993994, 143996539, 143996553
441PLEC80.9926716471006810314055144992826-144992832, 144996235-144996236, 144996239-144996240, 144996244-144996253, 144996365-144996385, 144996532, 144996539, 144996547-144996549, 144997093, 144997099-144997103, 144997133, 144998911-144998918, 144999831, 145003817-145003856
442GPT80.98993963782696151491145731280-145731281, 145731470-145731480, 145731493, 145731701
443RECQL480.9991728701406133627145739084, 145739087-145739088
444DOCK890.9993650793650846300452042-452045
445VLDLR90.99847444698703426222622208, 2622216, 2622223, 2622227
446KCNV290.997557997558416382718763-2718766
447JAK290.994704324801411833995077466-5077471, 5077474, 5077482-5077487, 5077510-5077513, 5077525
448APTX90.999028182701651102932973555
449VPS13A90.9968503937007930952579814881-79814884, 79842386, 79897187, 79932529, 79932603-79932614, 79938013-79938023
450ROR290.999646892655371283294486022
451FOXE190.9928698752228281122100616701-100616708
452TGFBR190.997354497354541512101867538-101867540, 101867543
453ABCA190.99823165340407126786107583758-107583769
454MUSK90.9984674329501942610113547817-113547819, 113547822
455CDK5RAP290.9987680394227475682123171419-123171425
456NR5A190.98701298701299181386127245156-127245173
457LMX1B90.9973190348525531119129456052, 129456062, 129456066
458STXBP190.9994481236203111812130415999
459TOR1A90.9989989989991999132586339
460TSC190.9988555078683843495135771992-135771995
461CEL90.884191985909292632271135944524, 135944582-135944589, 135945985-135946018, 135946387-135946393, 135946722, 135946752-135946801, 135946808-135946969
462SURF190.994462901439655903136223313-136223317
463ADAMTS1390.9978991596638794284136293871-136293873, 136293876-136293880, 136302044
464COL5A190.9990937103498355517137534073-137534074, 137534080, 137534095, 137534105
465LHX390.97601323407775291209139090875, 139090893, 139094819-139094833, 139094843-139094849, 139094870, 139094873-139094876
466INPP5E90.9989664082687321935139333333-139333334
467NOTCH190.9996087636932737668139391675-139391677
468AGPAT290.9808841099163716837139581759-139581771, 139581776, 139581787-139581788
469SLC34A390.99444444444444101800140128621-140128630
470EHMT190.9994867847061823897140637823-140637824
471OFD1X0.998025666337616303913757143, 13757146, 13757150-13757151, 13786340-13786341
472CDKL5X0.997736825088917309318598022-18598028
473SMSX0.996366939146234110121958962, 21958976, 21958985, 21958988
474ARXX0.9443457667258794168925031371, 25031374, 25031377, 25031380-25031385, 25031643-25031717, 25031777-25031782, 25031786-25031789
475NR0B1X0.998584571832982141330326614, 30326617
476DMDX0.99909567733767101105832519904-32519913
477RPGRX0.90315119976872335345938145187, 38145325-38145594, 38145602, 38145608-38145617, 38145627-38145679
478TSPAN7X0.973333333333332075038546869-38546888
479NYXX0.995159059474417144641333371-41333374, 41333926-41333928
480ZNF674X0.995990836197027174646360153-46360159
481WASX0.999337309476471150948547192
482BMP15X0.996598639455784117650659085-50659088
483FGD1X0.99757449757457288654494253-54494259
484ARX0.96344553022077101276366765155-66765221, 66765247-66765248, 66765587-66765596, 66765606-66765608, 66766374-66766392
485DLG3X0.999592502037491245469665248
486MED12X0.9877563513927280653470338607-70338611, 70338627-70338631, 70360596-70360597, 70360608-70360611, 70360624-70360627, 70360634-70360639, 70360665, 70360686-70360693, 70361097-70361141
487TAF1X0.96832101372756180568270586165-70586344
488SLC16A2X0.9891422366992420184273641340, 73641381, 73641385, 73641401-73641415, 73641565, 73641572
489ABCB7X0.999557913351021226274288854
490ATRXX0.9942505682577943747976875944-76875967, 76875977-76875995
491BRWD3X0.9940839341837732540979937993, 80064940-80064970
492CHMX0.9938837920489312196285213906-85213917
493COL4A5X0.999802293396615058107834423
494PAK3X0.9994262765347111743110416257
495HPRT1X0.99238964992395657133594357-133594360, 133594368
496ZIC3X0.93803418803419871404136651061-136651147
497SOX3X0.99030574198359131341139586482-139586484, 139586490, 139586498, 139586501, 139586508-139586513, 139586519
498FMR1X0.9984202211690431899146993721-146993723
499SLC6A8X0.870020964360592481908152954030-152954061, 152954068-152954276, 152958541-152958543, 152958546, 152959470-152959472
500ABCD1X0.946827524575511192238153006138-153006144, 153008473-153008487, 153008675-153008678, 153008709-153008734, 153008785-153008791, 153008981-153008987, 153009014-153009047, 153009137-153009155
501AVPR2X0.9946236559139861116153172049-153172050, 153172060-153172063
502MECP2X0.95457581830327681497153296187, 153296205-153296208, 153296212, 153363061-153363122
503OPN1LWX0.93972602739726661095153418521-153418552, 153420109-153420126, 153421809-153421824
504OPN1MWX0.91141552511416971095153455583-153455601, 153455651-153455682, 153457239-153457256, 153458979-153459006
505OPN1MWX0.92054794520548871095153490595, 153490611, 153492701-153492719, 153492769-153492792, 153494357-153494374, 153496057-153496072, 153496117-153496124
506G6PDX0.99877899877921638153762674-153762675
507IKBKGX0.9733606557377391464153792557-153792595
508IKBKGX0.9202453987730139489153868332-153868370
VariantPhase/
Zygosity
Allele freqImpactEvaluationSummary / Info
2.5MEFV-R408Qhet unknown0.017Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests with associated GeneReview
2.5MEFV-P369Shet unknown0.025Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
2.5MEFV-R202Qhet unknown0.111Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.019 (benign), Testable gene in GeneTests with associated GeneReview
2SP110-L425Shomozygous0.875Unknown
pathogenic
Low clinical importance,
uncertain
This variant is associated with a slightly increased risk of tuberculosis. It is unclear whether it is itself causal, or in linkage disequilibrium with some other causal variant that has a stronger effect.
2SP110-G299Rhomozygous0.822Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-W112Rhomozygous0.945Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2HLA-DQB1-V235Ihet unknown0.544Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2HLA-DQB1-T217Ihet unknown0.256Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2HLA-DQB1-S214Nhet unknown0.333Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2HLA-DQB1-A172Thet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2HLA-DQB1-G157Ahet unknown0.539Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2HLA-DQB1-G157Shet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2HLA-DQB1-D89VhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2HLA-DQB1-L28Shet unknown0.375Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2HLA-DQB1-L28Shet unknown0.375Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2HLA-DQB1-S27Thet unknown0.206Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2HLA-DQB1-M24Ihet unknown0.294Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2HLA-DQB1-D12Ghet unknown0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2HLA-DQB1-A6Shet unknown0.154Unknown
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.
2APOB-S4338Nhet unknown0.725Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-P2739Lhet unknown0.346Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-I2313Vhomozygous0.964Unknown
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
2MSR1-R293*het unknownUnknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
2MSR1-T161Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
2NEFL-S472ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
2ALAD-K59Nhet unknown0.060Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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
2NPC1-I858Vhomozygous0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.061 (benign), Testable gene in GeneTests with associated GeneReview
2NPC1-M642Ihomozygous0.863Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2NPC1-H215Rhomozygous0.222Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.5BANK1-R61Hhomozygous0.221Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5BANK1-A383Thomozygous0.233Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.778 (possibly damaging)
1.5BANK1-C650Rhomozygous0.990Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5ITGAM-R77Hhet unknown0.095Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.048 (benign)
1.5ITGAM-A859Vhet unknown0.136Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5ITGAM-P1147Shet unknown0.141Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5BRCA2-T1915Mhet unknown0.012Unknown
protective
Low clinical importance,
uncertain
Summary for this variant not displayed. It may contain a Unicode character preventing it from being properly processed.
1.5BRCA2-V2466Ahomozygous0.954Dominant
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.5BLMH-I443Vhomozygous0.241Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.375CFTR-V470Mhet unknown0.621Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.375CFTR-S1235Rhet unknown0.008Recessive
pathogenic
Moderate clinical importance,
uncertain
Reported to cause mild dysfunction of the cystic fibrosis gene, it may result in cystic fibrosis when combined with more severe variants.
1.125FKTN-G125Shet unknown0.023Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
1.125FKTN-R203Qhet unknown0.177Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.166 (benign), Testable gene in GeneTests with associated GeneReview
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
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
1F5-M1764Vhet unknown0.273Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-P1404Shet unknown0.077Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-K925Ehet unknown0.196Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-H865Rhet unknown0.238Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-K858Rhet unknown0.239Unknown
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
1LAMC2-T124Mhomozygous0.076Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview
1NR_027242-N339Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1NR_027242-C222Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NR_027242-Q97ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NR_027242-L22PhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1HNF1A-I27Lhomozygous0.311Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1HNF1A-S487Nhomozygous0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1HNF1A-S574Ghomozygous0.976Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1LOXL1-R141Lhet unknownUnknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
1LOXL1-G153Dhet unknown0.269Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.135 (benign)
1PSMB5-R24Chomozygous0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.982 (probably damaging)
1NPRL3-L489Shifthomozygous0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1RHBG-P424ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1RHBG-H428RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1HRNR-C1414Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-S803Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1HRNR-Y517Chet unknown0.185Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-E473Ghomozygous0.951Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-Q376Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-G315Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1HRNR-G167Dhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1HRNR-M1ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1GSPT1-V100AhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1GSPT1-G92ChomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
1IL23R-Q3Hhomozygous0.501Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
1IL23R-L310Phomozygous0.884Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1IL23R-R381Qhet unknown0.029Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
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
1ALG6-S306FhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ATP8B1-A1152Thomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ATP8B1-R952Qhet unknown0.052Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
1HSH2D-S223Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1INSR-A2GhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
1GRIN3B-R404Whomozygous0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.976 (probably damaging)
1GRIN3B-W414Rhomozygous0.681Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1GRIN3B-G466Shifthomozygous0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1GRIN3B-T577Mhomozygous0.347Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
1GRIN3B-A845Thet unknown0.097Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.137 (benign)
1GRIN3B-Y966Nhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1GRIN3B-Q1006Ehomozygous0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.051 (benign)
1GRIN3B-APAEAPPHS1028Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1GRIN3B-P1039Rhet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SEBOX-L207Shet unknown0.913Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SEBOX-W10ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ABCA4-N1868Ihet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.77 (possibly damaging), Testable gene in GeneTests
1ABCA4-R212Hhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
1BBS2-A504Vhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1BBS2-S70Nhomozygous0.992Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ASPM-Q2620Hhomozygous0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ASPM-Y2494Hhomozygous0.992Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ASPM-L991Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
1GCSH-N73Shet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GCSH-S21Lhet unknown0.750Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
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).
1PIK3R6-L609ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1DPYD-R29Chomozygous0.731Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1MS4A14-I56ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1MS4A14-N177Yhomozygous0.543Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
1MS4A14-G584Rhomozygous0.513Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
1CHIT1-G102Shet unknown0.268Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.057 (benign), Testable gene in GeneTests
1TNXB-W458Chet unknownUnknown
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
1AX746964-G175Shifthomozygous0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1AX746964-K166Ihomozygous0.628Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HLA-DQA1-L8Mhet unknown0.457Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-V17Mhet unknown0.061Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-D25Ghet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
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-A68Vhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-R70Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-W71Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-E73Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-S75Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-K76Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-G78Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-G79Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-G84Fhet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-R87Thet unknown0.170Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-M89Ihet unknown0.200Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-A92Lhet unknown0.151Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-M99Vhet unknownUnknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q152Hhet unknown0.526Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q198Ehet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-M230Vhomozygous0.782Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FANCE-P445Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.922 (probably damaging), Testable gene in GeneTests with associated GeneReview
1FANCE-A502Thet unknown0.214Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
1SYNE1-T8687Ihet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
1SYNE1-G8323Ahet unknown0.310Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
1SYNE1-F7302Vhomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SYNE1-L5015Mhomozygous0.866Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SYNE1-S4596Thomozygous0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SYNE1-K4121Rhomozygous0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SYNE1-E4060Dhet unknown0.539Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
1SYNE1-N1915Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1SYNE1-D1730Ehet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
1SYNE1-V1035Ahet unknown0.632Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.673 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1SYNE1-L885Vhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
1LRP11-P92RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
1CUL7-Q813RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NDUFA10-A2GhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
1ZNF167-N494ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1VWA5B2-G90ShomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1VWA5B2-P200Shomozygous0.205Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1RYK-L17ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ALG3-I107Vhomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.02 (benign), Testable gene in GeneTests with associated GeneReview
1CPN2-V536Mhomozygous0.262Unknown
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-A305Thomozygous0.359Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
1AX746903-T82ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1AX746903-Q107Delhet unknownUnknown
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
1IDUA-H33Qhomozygous0.750Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
1IDUA-R105Qhomozygous0.147Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.023 (benign), Testable gene in GeneTests with associated GeneReview
1IDUA-A361Thomozygous0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1IDUA-V454IhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
1TTN-A32175Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-G23722Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-I21326Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-A19840PhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-N14094Thomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-V7505Ihet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-S3419Nhomozygous0.850Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-V3261Mhomozygous0.840Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-S1295Lhomozygous0.881Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-K1201Ehomozygous0.519Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-T811Ihomozygous0.146Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-E190Shifthet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1SLC22A1-R61Chet unknown0.024Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging)
1SLC22A1-L160Fhet unknown0.892Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SLC22A1-M408Vhet unknown0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CYP1B1-V432Lhomozygous0.547Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CYP1B1-A119Shet unknown0.080Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CYP1B1-R48Ghet unknown0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SFTPA2-T9NhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1KCNJ11-V337Ihet unknown0.761Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1KCNJ11-K23Ehet unknown0.711Unknown
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ALX4-P102Shomozygous0.217Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ALX4-R35Thomozygous0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests with associated GeneReview
1TRIM64-I58ThomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-R162ShomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1TRIM64-Q358RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-Q405RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1B3GNT6-L316ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1B3GNT6-L335ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1C19orf55-G398ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1IPPK-L376Fhomozygous0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.865 (probably damaging)
1COL22A1-L1483Hhomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.945 (probably damaging)
1COL22A1-S320Ghomozygous0.822Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
1NEB-I6534Vhet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NEB-A6277Phet unknown0.691Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NEB-R4389Thomozygous0.724Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NEB-W3348ChomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NEB-K2613Nhet unknown0.138Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NEB-V1491Mhomozygous0.453Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NEB-Y1301Hhomozygous0.668Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NEB-K1027Nhomozygous0.476Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NEB-P98Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GATSL1-N17KhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
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
1AKAP9-M463Ihomozygous0.376Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1AKAP9-R1276QhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
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-D621Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KCP-K395Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KCP-H313ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KCP-A16ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PLEKHA2-P389Shifthomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ATG9B-A765ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KCNH2-K897Thet unknown0.098Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
1USH2A-E3411Ahet unknown0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1USH2A-V2562Ahet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
1USH2A-I2169Thet unknown0.575Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1USH2A-I1665Thet unknown0.052Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.3 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1USH2A-R1486Khet unknown0.646Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview
1USH2A-D644Vhomozygous0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.137 (benign), Testable gene in GeneTests with associated GeneReview
1USH2A-A125Thet unknown0.777Unknown
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
1DEFB126-P106Shifthomozygous0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CYP2B6-R22Chet unknown0.044Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.639 (possibly damaging)
1CYP2B6-R487Chet unknown0.074Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
1ARSA-T391Shet unknown0.423Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ARSA-W193Chet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview
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
1BC112980-K147ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1BCAM-R77Hhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests
1BCAM-V196Ihet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1BCAM-T539Ahet unknown0.261Unknown
benign
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
1BCAT2-T186Rhomozygous0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.548 (possibly damaging), Testable gene in GeneTests
1VSIG10L-Q860ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1VSIG10L-R592QhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1VSIG10L-M356IhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1VSIG10L-N3ThomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1DGKK-D1111Nhet unknown0.145Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1DGKK-L1014ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SCARF2-A832GhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1SCARF2-A814GhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1SCARF2-DV772ELhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1SCARF2-E764ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SCARF2-P747ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SCARF2-A745ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1LSS-L642Vhomozygous0.789Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1LSS-R614Whomozygous0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.974 (probably damaging)
1PADI6-V343Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PRDM15-S1481Phomozygous0.995Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1PRDM15-V266Lhet unknown0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1PRDM15-R88ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KRTAP7-1-I61ShomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KRTAP7-1-S51PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KRTAP7-1-Y17ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TCEAL6-Q175Shifthomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1COL18A1-A288Thet unknown0.177Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.017 (benign), 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-V1076Ihet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1COL18A1-PGP1362DelhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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
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
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
1FAM58A-Q15ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
1FAM58A-G4ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.75CHRNA5-S147Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.75CHRNA5-D398Nhet unknown0.158Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.75AKAP10-I646Vhet unknown0.434Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75AKAP10-R249Hhet unknown0.427Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75AURKA-I57Vhomozygous0.814Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75AURKA-F31Ihet unknown0.366Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75DYX1C1-E417*het unknown0.354Unknown
pathogenic
Low clinical importance,
uncertain
One study reports this variant to be associated with dyslexia. The study group was relatively small and so the results did not have strong significance. If they are representative this variant is associated with a doubled risk for dyslexia, but it is unclear whether the effect would be additive, dominant, or recessive.
0.75DYX1C1-E191Ghet unknown0.507Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.249 (possibly damaging)
0.625ATP6V0A4-M580Thet unknown0.125Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.625ATP6V0A4-V2Ahomozygous0.680Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.625ABCA12-D2537Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.625ABCA12-S777Thomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625RYR2-P2869Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.625RYR2-Q2958Rhet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CCDC74B-P201Shet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5CCDC74B-H149Rhet unknown0.956Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FER1L6-D1110Ehomozygous0.780Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FER1L6-R1720Qhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5TRMT12-W28Rhet unknown0.615Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TRMT12-D195Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TRMT12-D195Ehet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0.5TG-S734Ahomozygous0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-M1028Vhomozygous0.696Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5TG-D1312Ghet unknown0.344Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-D1838Nhet unknown0.304Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.061 (benign), Testable gene in GeneTests
0.5TG-R1999Whomozygous0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-R2530Qhet unknown0.586Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5TMEM67-I604Vhomozygous0.710Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP13A2-VV467DLhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ATP13A2-T466Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5PEX2-C184Rhomozygous0.990Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TPD52-D52Yhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CNGB3-T298Phomozygous0.681Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview
0.5CNGB3-C234Whomozygous0.939Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFC1-W78Rhomozygous0.966Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MBNL3-I220Vhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.85 (probably damaging)
0.5PLEC-A1880Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PLEC-R433Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GGH-A31Thet unknown0.198Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GGH-C6Rhet unknown0.088Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIAA1045-S354Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ROR2-V819Ihomozygous0.798Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCCC1-H464Phomozygous0.408Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5BAAT-R20Qhomozygous0.569Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.136 (benign), Testable gene in GeneTests
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)
0.5DOCK8-A22Vhet unknown0.291Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.009 (benign), Testable gene in GeneTests
0.5DOCK8-P97Thomozygous0.512Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests
0.5DOCK8-A597Vhet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.96 (probably damaging), Testable gene in GeneTests
0.5SHARPIN-S282Thet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.86 (probably damaging)
0.5SHARPIN-S17Fhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AK094577-C82Shifthet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5DBI-M71Vhet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.297 (possibly damaging)
0.5RECQL4-R1005Qhet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RECQL4-R766Shifthomozygous0.278Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests with associated GeneReview
0.5RECQL4-E267Dhet unknown0.471Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RECQL4-S92Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RP1-R872Hhet unknown0.291Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5RP1-N985Yhet unknown0.206Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.958 (probably damaging), Testable gene in GeneTests
0.5RP1-R1595Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests
0.5RP1-S1691Phet unknown0.295Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RP1-C2033Yhet unknown0.186Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests
0.5ABCA1-K1587Rhet unknown0.486Unknown
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
0.5CLCN1-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
0.5ZYX-R489Whet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.976 (probably damaging)
0.5GIMAP2-V74Fhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.954 (probably damaging)
0.5MUC20-T345Shifthet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5LCT-I362Vhomozygous0.944Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LCT-V219Ihomozygous0.426Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HPS4-Q620Hhomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5HPS4-H601Yhomozygous0.807Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-V547Mhomozygous0.780Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-L438Vhet unknown0.344Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-E224Ghomozygous0.779Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYP3A7-R409Thomozygous0.669Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ACHE-H353Nhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5LAMB1-R795Ghet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5MCM5-T180Shet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TFEC-Q6Hhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.683 (possibly damaging)
0.5SPATA21-K361KKhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SPATA21-Q184Rhet unknown0.169Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.063 (benign)
0.5SPATA21-P119Lhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5MCPH1-R171Shomozygous0.865Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-P288Hhet unknown0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 1.0 (probably damaging), 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
0.5ARL13B-T348Shet unknown0.095Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5EPHX2-R52Whet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5CROCC-R7Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CROCC-Q302Ehet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.956 (probably damaging)
0.5CROCC-A439Vhet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5CROCC-D463Yhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.987 (probably damaging)
0.5CROCC-P511Shet unknown0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.94 (probably damaging)
0.5CROCC-D586Hhet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.991 (probably damaging)
0.5CROCC-R691Hhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.873 (probably damaging)
0.5CROCC-T824Mhet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.351 (possibly damaging)
0.5CROCC-R903Shet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5PRKDC-L1243Shifthomozygous0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5PRKDC-M333Ihet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5LPL-S474*het unknown0.096Unknown
protective
Insufficiently evaluatedPrioritization score: 4
Nonsense mutation, Testable gene in GeneTests with associated GeneReview
0.5NAT2-R197Qhet unknown0.272Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NAT2-R268Khomozygous0.675Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GATA4-S377Ghet unknown0.058Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RAB3GAP1-N598Shomozygous0.207Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MTHFR-E429Ahet unknown0.243Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.099 (benign), Testable gene in GeneTests
0.5ASAH1-V246Ahomozygous0.797Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ASAH1-D124Ehet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ASAH1-I93Vhomozygous0.384Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ASAH1-V72Mhomozygous0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FGL1-M114Vhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5FGL1-R38Lhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.876 (probably damaging)
0.5FGL1-T15Ihet unknown0.696Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FGL1-F5Ihet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.5ITGB2-Q354Hhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.543 (possibly damaging), Testable gene in GeneTests
0.5ITGB2-D283Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZMYND10-R369Whet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5PDCD11-K45Ehet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5PDCD11-L1216Fhet unknown0.455Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABCG8-Y54Chomozygous0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.01 (benign), Testable gene in GeneTests
0.5ABCG8-V632Ahomozygous0.908Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL17A1-D1370Ghet unknown0.257Unknown
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
0.5ABCG5-A98Ghet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.675 (possibly damaging), Testable gene in GeneTests
0.5AX746750-S137Shifthet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SCD-M224Lhomozygous0.377Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5STAMBPL1-E204Khet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.97 (probably damaging)
0.5SLC3A1-M618Ihomozygous0.406Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5CYP2C9-I359Lhet unknown0.016Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.048 (benign)
0.5ABCC2-Y39Fhomozygous0.990Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HPS1-P491Rhet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.983 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5ARMS2-A69Shet unknown0.294Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CASR-A986Shet unknown0.070Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5CASR-R990Ghet unknown0.199Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.939 (probably damaging), Testable gene in GeneTests
0.5CASR-E1011Qhomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5INSC-D333Nhet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging)
0.5WDR62-M1134Rhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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-L1390Fhet unknown0.736Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HADHB-T2TThet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TTC3-R608Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5TTC3-M840Thomozygous0.646Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TTC3-D1751Hhomozygous0.791Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HGD-Q80Hhomozygous0.742Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OLFML1-E113Vhet unknown0.145Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OLFML1-A259Thet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5C10orf92-S2266Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5C10orf92-A2057Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5C10orf92-S1835Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5C10orf92-T1834Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5C10orf92-R199Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5C10orf92-I191Lhet unknownUnknown
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
0.5ALK-I1461Vhomozygous0.982Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SMPD1-V36Ahomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TH-V108Mhomozygous0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ANXA11-R230Chomozygous0.382Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5NR_015394-G45Whet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_015394-F74Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_015394-T113Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ADRA2B-G211Ahet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
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
0.5PLEKHG5-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
0.5COL5A1-D192Nhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RGPD4-Q1169Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TOR2A-R265Whet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5TOR2A-K203Ehomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BSPRY-Q293Hhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.292 (possibly damaging)
0.5PFKL-D237Vhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.614 (possibly damaging)
0.5PFKL-E738Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5DFNB31-H752Qhomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-R364Hhomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AK131516-R31*het unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5CDK5RAP2-V1540Lhomozygous0.714Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-E289Qhet unknown0.801Unknown
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)
0.5SLC34A3-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
0.5ERCC6-Q1413Rhet unknown0.145Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.5ERCC6-R1213Ghet unknown0.159Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5ERCC6-M1097Vhet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CHAT-V461Mhomozygous0.927Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC29A3-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
0.5NDST2-M375Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.945 (probably damaging)
0.5CDH23-N1349Dhomozygous0.772Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-R1434Qhet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-A1572Thomozygous0.720Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-V1672Ihet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-T1996Shomozygous0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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-P1102Ahet unknownUnknown
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
0.5PTCHD3-*768Qhomozygous0.570Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-I584Mhomozygous0.963Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-M521Thomozygous0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-D473Ghomozygous0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.849 (possibly damaging)
0.5PTCHD3-C407Ghet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5PTCHD3-S309Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TUBAL3-R250Whet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
0.5OPTN-K322Ehomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-E3002Ghet unknown0.088Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-I2984Vhet unknown0.062Unknown
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-L2153Fhet unknown0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P1559Shet unknown0.565Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P389Thet unknown0.513Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-F253Shomozygous0.801Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TET3-P294Shet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.957 (probably damaging)
0.5PTF1A-S263Phomozygous0.654Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests
0.5MMADHC-K29Nhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.019 (benign), Testable gene in GeneTests with associated GeneReview
0.5ARHGEF19-R633Qhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ARHGEF19-P460Lhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5COL6A3-A3012Phomozygous0.843Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-M2927Thomozygous0.674Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-P2218Lhet unknown0.168Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PAICS-S148Chet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SLC16A2-S107Phomozygous0.444Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADRB2-E27Qhet unknown0.773Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5PCDHB6-V446Ahomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PCDHB6-E621Ghet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5PCDHB6-H636Qhet unknown0.617Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.393 (possibly damaging)
0.5PCDHB6-G776Dhet unknown0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ATP7A-E1350Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HRH1-M14Ihet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5IL13-Q144Rhomozygous0.766Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GPR35-A25Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5GPR35-R125Shet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging)
0.5GPR35-S294Rhet unknown0.465Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TBX22-E187Khet unknown0.065Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests
0.5LECT2-G63Ehet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5LECT2-I58Vhomozygous0.621Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SH3TC2-A468Shomozygous0.198Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5SLC26A2-I574Thomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC26A2-T689Shet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNS1-V1604Ihomozygous0.654Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TNS1-W1197Rhomozygous0.697Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TNS1-V25Ihet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
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
0.5GRM6-Q59Phomozygous0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MSX2-M129Thomozygous0.716Unknown
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
0.5COL4A3-G43Rhet unknown0.239Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-L141Phomozygous0.760Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-E162Ghomozygous0.764Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A3-D326Yhet unknown0.203Unknown
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
0.5KIT-M541Lhet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.017 (benign), Testable gene in GeneTests
0.5FAT2-P4117Lhomozygous0.772Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT2-M3631Ihomozygous0.752Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.129 (benign)
0.5FAT2-L3514Shomozygous0.765Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT2-F2428Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT2-Y1181Hhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT2-P1164Lhet unknown0.361Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5FAT2-G1004Shet unknown0.400Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT2-F686Shet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT2-R574Chet unknown0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.967 (probably damaging)
0.5FAT2-V444Ahet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5TLR6-V427Ahet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TLR6-S249Phomozygous0.855Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SGCD-R96Qhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5APC-V1822Dhomozygous0.887Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LIX1-P21Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.982 (probably 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
0.5AGA-T149Shomozygous0.925Unknown
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
0.5DNAH5-I4450Vhet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-A4134Vhet unknown0.450Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-T558Ahet unknown0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.791 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-G24Ehet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-H12Qhomozygous0.896Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADH1B-H48Rhomozygous0.678Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NR3C2-V180Ihomozygous0.883Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HADH-L86Phomozygous0.859Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFI-T300Ahomozygous0.957Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALPK1-N175Dhet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.272 (possibly damaging)
0.5ALPK1-T458Ahet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5ALPK1-G565Dhet unknown0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALPK1-H642Rhomozygous0.663Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALPK1-S710Fhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging)
0.5ALPK1-M732Ihet unknown0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALPK1-M861Thomozygous0.664Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RAB40A-H45Lhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.907 (probably damaging)
0.5H2BFM-Q73*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
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
0.5ZCCHC16-L27Phet unknown0.569Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZCCHC16-D162Yhet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
0.5ZCCHC16-N204Dhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.965 (probably damaging)
0.5GLB1-C521Rhomozygous0.870Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GLB1-L436Fhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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
0.5GPR98-L1093Fhomozygous0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-V1951Ihomozygous0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-N1985Dhet unknown0.259Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-P1987Lhet unknown0.333Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.366 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-L2004Fhet unknown0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.841 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-Y2232Chet unknown0.349Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.989 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-N2345Shet unknown0.304Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-N2584Shomozygous0.825Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-R2625Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-G3248Dhet unknown0.232Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-E3471Khomozygous0.834Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E3867Khet unknown0.356Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E5344Ghomozygous0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-V5427Mhomozygous0.918Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5XPC-Q939Khomozygous0.683Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AP3B1-V585Ehomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5HEXB-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
0.5IL7R-V138Ihet unknown0.689Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IL7R-T414Mhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HEATR7B2-L1179Phomozygous0.779Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HEATR7B2-N918Khet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HEATR7B2-V496Ihet unknown0.780Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HEATR7B2-R330Qhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5HEATR7B2-W191Qhet unknown0.238Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNASE1L3-R206Chet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5RAD17-L557Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5GHR-I544Lhomozygous0.473Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.5TRIM7-G363Shet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TRIM7-V258Ahet unknown0.487Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TRIM7-Q95Ehet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.923 (probably damaging)
0.5RREB1-G195Rhomozygous0.459Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RREB1-G783Vhet unknown0.409Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RREB1-G1169Shifthet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5RREB1-G1439Rhet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RREB1-L1522Phomozygous0.825Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RREB1-S1554Yhet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.889 (probably damaging)
0.5DOK7-R38Ghet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DOK7-R38Ghet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNRC18-L2525Vhet unknown0.071Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TNRC18-P2393Lhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TNRC18-N1676Dhet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TNRC18-A1267Ghet unknown0.278Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.469 (possibly damaging)
0.5TNRC18-S579Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TNRC18-P103Shet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5POLN-Q121Hhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5DNAH11-Q639Rhet unknown0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-S654Chet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-V1023Ahet unknown0.193Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 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-N2641Shet unknown0.367Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-A3474Thet unknown0.501Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-V3715Lhomozygous0.452Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-M4172Vhomozygous0.334Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T4177Ihet unknown0.359Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC22A2-S270Ahomozygous0.876Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SHANK3-I245Thomozygous0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC22A16-M409Thet unknown0.092Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5SLC22A16-E232Ghet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5EYA4-G277Shomozygous0.467Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5MOSPD2-S240Nhet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.902 (probably damaging)
0.5CLCNKA-R83Ghomozygous0.653Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKA-A447Thomozygous0.688Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KAL1-V534Ihomozygous0.543Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HOXA1-R73Hhomozygous0.743Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC6A5-G102Shomozygous0.420Unknown
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
0.5CLCNKB-R27Lhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-A214Ghomozygous0.815Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-A287Vhomozygous0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-M562Thomozygous0.856Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-K578Ehomozygous0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MDH2-K301Rhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ITGB6-V438Mhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5ITGB6-P132Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PNPLA3-G115Chet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PNPLA3-I148Mhomozygous0.268Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.778 (possibly damaging)
0.5PNPLA3-K434Ehomozygous0.801Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TBL2-V345Ihet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.567 (possibly damaging)
0.5TBL2-E8Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.92 (probably damaging)
0.5SBDS-I212Thet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.5PRR15-P124Hhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging)
0.5TXNDC3-R43Khet unknown0.291Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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
0.5SCN2A-R19Khet unknown0.077Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.956 (probably damaging), Testable gene in GeneTests
0.5DDC-M17Vhomozygous0.979Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CCM2-V120Ihet unknown0.091Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5ZBTB24-R49Qhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5AIM1-Q293Phet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AIM1-C491Rhet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.091 (benign)
0.5AIM1-E1196Ahomozygous0.935Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0.5AIM1-C1395Yhet unknown0.243Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.958 (probably damaging)
0.5TNXB-A3314Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, 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-R2597Qhet unknown0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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-G2495Shet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-V2127Mhet unknown0.141Unknown
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
0.5TNXB-S921Ahet unknown0.173Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-R650Hhet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-R511Hhet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-V203Mhet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC38A5-M451Thet unknown0.071Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5WFS1-V333Ihomozygous0.889Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WFS1-R611Hhet unknown0.442Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5EVC-Y258Hhet unknown0.721Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5EVC-T449Khomozygous0.871Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EVC-R576Qhet unknown0.274Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.5ATXN7-K264Rhet unknown0.103Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.949 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5ATXN7-V862Mhet unknown0.485Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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)
0.5ATXN1-P753Shomozygous0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NHLRC1-P111Lhet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5OR2W1-M81Vhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5CCHCR1-S865Chomozygous0.202Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CCHCR1-R716Qhet unknown0.063Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CCHCR1-G664Chet unknown0.151Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CCHCR1-R506Whomozygous0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CCHCR1-L268Qhet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CCHCR1-S253Rhet unknown0.371Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CCHCR1-W78*het unknown0.460Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5CCHCR1-E41*het unknown0.071Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
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-R100Chet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-L145Rhet unknown0.293Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-A147Vhet unknown0.278Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-S182Whet unknown0.392Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-G217Ahet unknown0.074Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-C238Shet unknown0.729Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZBTB22-E591Ghet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ZBTB22-T310Ahet unknown0.521Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DMD-R2937Qhomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMD-K2366Qhet unknown0.152Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.875 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5EYS-R2326Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-L1419Shet unknown0.780Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-L852Phet unknown0.655Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-G631Shet unknown0.596Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-V112Ihet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL9A1-Q621Rhomozygous0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GBE1-S378Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.021 (benign), Testable gene in GeneTests with associated GeneReview
0.5GBE1-I334Vhomozygous0.979Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GBE1-P40Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.042 (benign), Testable gene in GeneTests with associated GeneReview
0.5GJB7-F206Lhet unknown0.546Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GJB7-M83Ihet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5GJB7-T20Ihet unknown0.668Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LCA5-G656Dhomozygous0.377Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LCA5-D26Ahet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.998 (probably damaging), 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
0.5FRZB-R200Whet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5PKHD1-Q4048Rhet unknown0.566Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-Q3899Rhet unknown0.546Unknown
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
0.5BMPR2-S775Nhet unknown0.023Unknown
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
0.5COL3A1-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
0.5ENPP5-I171Vhet unknown0.384Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.139 (benign)
0.5ENPP5-R39Phet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5ENPP5-L6Ihet unknown0.384Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5MAGEB6-R98Hhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.766 (possibly damaging)
0.5MAGEB6-A100Vhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign)
0.5DSCR4-P40Shet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.891 (probably damaging)
0.5TRPM1-H1498Qhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5TRPM1-E1375*het unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation, Testable gene in GeneTests
0.5TRPM1-S32Nhomozygous0.786Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TRPM1-M1Thomozygous0.898Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RANBP10-A571Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5RANBP10-A570Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PTPN22-W620Rhomozygous0.970Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF19-R224Qhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ZNF19-A34Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5DHODH-K7Qhet unknown0.560Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5DHODH-A341Vhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging)
0.5GPR56-S281Rhet unknown0.750Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR56-Q306Hhet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC12A3-A264Ghomozygous0.976Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC12A3-N622Shet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CACNG6-C252Shet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5NLRP12-F402Lhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests
0.5NLRP12-G39Vhet unknown0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests
0.5SALL1-V1275Ihomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CES1-A270Shet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CES1-D204Ehet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CES1-S76Nhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
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)
0.5ZNF528-G443Ahet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.969 (probably damaging)
0.5GSTM1-S210Thomozygous0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TSR1-H750Qhet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging)
0.5CTNS-T260Ihomozygous0.825Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CTNS-P380Ahet unknown0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GP1BA-P411Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GUCY2D-W21Rhet unknownUnknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.033 (benign), Testable gene in GeneTests with associated GeneReview
0.5GUCY2D-L782Hhomozygous0.165Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MED25-Q671Phet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.508 (possibly damaging), Testable gene in GeneTests
0.5FANCA-G809Dhet unknown0.671Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCA-G501Shomozygous0.654Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCA-T266Ahet unknown0.708Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5FANCA-V6Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DBT-S384Ghomozygous0.869Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, 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
0.5CYBA-V174Ahomozygous0.417Unknown
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
0.5SNAI3-I68Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SNAI3-V7Mhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5CDH15-Y788*het unknown0.082Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5COL11A1-S1547Phomozygous0.752Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CD19-L174Vhomozygous0.876Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNRC6A-Q1112Hhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5EXT2-M174Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BBS4-I354Thomozygous0.399Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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)
0.5SLC28A1-D521Nhomozygous0.226Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NR2E3-T318Shifthomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.5CYP19A1-R264Chet unknown0.113Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5PLA2G4D-R807Qhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.976 (probably damaging)
0.5PLA2G4D-R783Qhet unknown0.054Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.5PLA2G4D-A649Ghet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PLA2G4D-K639Qhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PLA2G4D-Y627Chet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PLA2G4D-R601Hhet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5PLA2G4D-R573Whet unknown0.054Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PLA2G4D-S434Thet unknown0.266Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.064 (benign)
0.5PLA2G4D-P275Rhet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PLA2G4D-P10Thet unknown0.080Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.11 (benign)
0.5STRC-Q84Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.5FBN1-C472Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.5LAPTM5-T21Ahet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.797 (possibly damaging)
0.5GNRH2-A16Vhet unknown0.229Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.697 (possibly damaging)
0.5GNRH2-S116Shifthet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5FLG-R3270Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.115 (benign), Testable gene in GeneTests with associated GeneReview
0.5FLG-V3179Ghomozygous0.339Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5FLG-H2507Qhomozygous0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5FLG-L2481Shomozygous0.222Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5FLG-K2444Ehomozygous0.188Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5FLG-E2398Qhomozygous0.144Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.92 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5FLG-S2366Thomozygous0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.967 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5FLG-Y2194Hhomozygous0.522Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-K2192Qhet unknown0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-Y2119Hhet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-S2020Ahet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-D2015Ehet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-H1961Qhomozygous0.418Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-R1699Chet unknown0.428Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-R1684Hhet unknown0.190Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-T1523Ihet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-D1484Ehet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-S1482Yhet unknown0.243Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-R1376Ghomozygous0.170Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-R1360Hhet unknown0.164Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-R789Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-H727Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-P478Shomozygous0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5FLG-T454Ahomozygous0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.075 (benign), Testable gene in GeneTests with associated GeneReview
0.5FLG-G444Rhet unknown0.319Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5FLG-G332Vhomozygous0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5ERCC4-R415Qhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging)
0.5MYH11-V1296Ahet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NLRP7-V319Ihomozygous0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5ABCC6-M848Vhomozygous0.954Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AL157420-F154Shifthet unknown0.417Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5AL157420-L130Shifthet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZSCAN10-L654Vhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.948 (probably damaging)
0.5CACNA1H-R437Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CACNA1H-P640Lhet unknown0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.125 (benign)
0.5CACNA1H-R788Chet unknown0.069Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (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)
0.5TPSAB1-P111Shifthet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5FLG2-S2377*het unknown0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5FLG2-Q1034Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5FLG2-T868TFGFGQHRSGSGQShet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5FLG2-E723Khet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5FLG2-R276Qhet unknown0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FLG2-G137Ehet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5FLG2-L41Fhet unknown0.364Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PKD1-R739Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5SDCBP2-R223Chet unknown0.127Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5SDCBP2-R191Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5SDCBP2-V182Mhomozygous0.352Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MYH13-A1615Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MYH13-R1294Qhet unknown0.137Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MYH13-M1071Vhomozygous0.545Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.025 (benign)
0.5MYH13-G701Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.978 (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)
0.5ZNF77-Q100*het unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation
0.5ZNRF4-P37Shomozygous0.525Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.402 (possibly damaging)
0.5ZNRF4-R78Qhet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNRF4-V100Ihet unknown0.093Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.36 (possibly damaging)
0.5ZNRF4-A157Shomozygous0.540Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.019 (benign)
0.5ZNRF4-V159Ahomozygous0.538Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNRF4-R163Chet unknown0.071Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5FCGBP-P4788Shet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5FCGBP-H3668Rhomozygous0.575Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FCGBP-S1961Phomozygous0.875Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FCGBP-GM1616VVhet unknown0.139Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FCGBP-P1436Lhet unknown0.110Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.325 (possibly damaging)
0.5FCGBP-N770Shet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.384 (possibly damaging)
0.5STXBP2-I526Vhomozygous0.725Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NDUFS7-P23Lhomozygous0.437Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5PRX-G1132Rhomozygous0.978Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-P1083Rhet unknown0.082Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.793 (possibly damaging), 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
0.5ALPK2-I2157Vhomozygous0.919Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALPK2-R1884Chet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.699 (possibly damaging)
0.5ALPK2-H1767Yhet unknown0.058Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.5ALPK2-Q1579Rhet unknown0.065Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.183 (benign)
0.5ALPK2-F1389Delhet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALPK2-S977Thet unknown0.057Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.45 (possibly damaging)
0.5ALPK2-T891Ihet unknown0.762Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALPK2-R136Shet unknown0.465Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALPK2-K2Thet unknown0.926Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TNFRSF11A-H141Yhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.909 (probably damaging), Testable gene in GeneTests
0.5TNFRSF11A-R181Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TNFRSF11A-A192Vhet unknown0.625Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CPT2-V368Ihet unknown0.477Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CPT2-M647Vhet unknown0.093Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5KISS1R-L364Hhomozygous0.875Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CTDP1-S61Ahet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CTDP1-E582EEhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FBN3-P1958Hhet unknown0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FBN3-L1904Fhet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FBN3-G1614Shet unknown0.195Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FBN3-D662Nhomozygous0.984Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FBN3-R473Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5FBN3-M371Ihet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
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
0.5ZNF414-Q65Rhet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.686 (possibly damaging)
0.5OCEL1-R42Lhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging)
0.5MAST2-D388Ehomozygous0.882Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MAST2-I659Mhomozygous0.482Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.033 (benign)
0.5MAST2-K1197Rhet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.019 (benign)
0.5MAST2-V1304Mhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.293 (possibly damaging)
0.5MAST2-D1551Ghet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging)
0.5RYR1-K1810Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RYR1-E3689Delhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KIRREL2-A170Thet unknown0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIRREL2-V353Mhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.873 (probably damaging)
0.5KIRREL2-K591Ehomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NPHS1-N1077Shomozygous0.132Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests
0.5POMGNT1-M623Vhomozygous0.878Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CYP4F2-V433Mhomozygous0.216Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.309 (possibly damaging)
0.5CYP4F2-W12Ghet unknown0.058Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5ADAMTS10-H1101Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADAMTS10-T134Shet unknown0.910Unknown
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
0.5CYP4A22-R126Whet unknown0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP4A22-G130Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5CYP4A22-N152Yhet unknown0.790Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP4A22-C231Rhet unknown0.598Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP4A22-L428Phet unknown0.297Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ICAM1-G241Rhet unknown0.060Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.948 (probably damaging)
0.5ICAM1-K469Ehomozygous0.297Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PGLYRP2-R476Whet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5PGLYRP2-M270Khet unknown0.399Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.2 (possibly damaging)
0.5PGLYRP2-R99Qhet unknown0.364Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5PGLYRP2-T46Ahet unknown0.366Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MAN2B1-R337Qhomozygous0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.027 (benign), Testable gene in GeneTests with associated GeneReview
0.5MAN2B1-T312Ihomozygous0.324Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.045 (benign), Testable gene in GeneTests with associated GeneReview
0.5DSC3-A28Dhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.067 (benign), Testable gene in GeneTests with associated GeneReview
0.5LAMA3-S2834Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KRT14-A94Thomozygous0.269Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KRT14-C63Yhomozygous0.976Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEGR1-Y347Shet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5DHX58-Q425Rhet unknown0.405Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DHX58-R95Qhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.296 (possibly damaging)
0.5DLX4-N44Shet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5NPEPPS-M241Thet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5MYO19-N176Shet unknown0.063Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5UNC45B-I852Nhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5COX10-R159Qhomozygous0.494Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNGR4-R27Whet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5MYO15A-C1977Rhomozygous0.746Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO15A-Y2682Fhomozygous0.215Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PNMAL2-A599Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5PNMAL2-G163Shet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.929 (probably damaging)
0.5PNMAL2-G163Shet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.929 (probably damaging)
0.5EMP3-I125Vhet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.878 (probably damaging)
0.5COL1A1-T1075Ahomozygous0.961Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SEPT4-E311Vhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.856 (probably damaging)
0.5FAM151A-A416Vhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5FAM151A-P335Shifthet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ST6GALNAC1-I424Vhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.221 (possibly damaging)
0.5ST6GALNAC1-V80Ahet unknown0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ACOT11-R11Whet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.715 (possibly damaging)
0.5ACOT11-R20Hhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.938 (probably damaging)
0.5TGIF1-P292Lhet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SGSH-R456Hhomozygous0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TSEN54-E4Dhomozygous0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TSEN54-K347Nhomozygous0.430Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.968 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5TSEN54-A437Vhomozygous0.515Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5DNAI2-A558Thomozygous0.674Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BSDC1-I234Vhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TBX4-G6Ahet unknown0.219Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.497 (possibly damaging), Testable gene in GeneTests
0.5TBX4-A35Vhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SCN4A-N1376Dhomozygous0.604Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN4A-S524Ghomozygous0.938Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ARSG-T236Shomozygous0.242Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.075 (benign)
0.5ARSG-W274Rhomozygous0.347Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.5ARSG-R398Whet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ARSG-T444Mhet unknown0.142Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.076 (benign)
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
0.5HEXA-I436Vhomozygous0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SPINT3-F54Shet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5FAM86C-A7Shet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.195 (benign)
0.5FAM86C-R30Phet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging)
0.5UBE3A-A201Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FAM109A-P55Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5FAM109A-P55Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5FAM109A-P54Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5FAM109A-P54Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ATXN2-L107Vhomozygous0.311Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CCDC63-Y303Fhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5IFT81-D134Ghet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5KIAA0748-R19Hhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5PTPRB-I1490Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PTPRB-D633Ehet unknown0.095Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTPRB-S345Ghet unknown0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTPRB-R312Khet unknown0.652Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTPRB-G180Shet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CFHR1-H157Yhomozygous0.169Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFHR1-E175Qhomozygous0.518Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MVK-S52Nhet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RASAL1-R321Hhet unknown0.775Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RASAL1-T58Mhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5RASAL1-V11Lhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign)
0.5DDX54-P822Lhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5DDX54-R693Qhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.86 (probably damaging)
0.5DDX54-G6Rhet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SGCG-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
0.5TNFSF18-I190Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PABPC3-E345*het unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5B3GALTL-E370Khomozygous0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.5PAPPA2-P1657Rhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.977 (probably damaging)
0.5NPHS2-R229Qhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.351 (possibly damaging), Testable gene in GeneTests
0.5CFH-V62Ihet unknown0.495Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFH-H402Yhomozygous0.818Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TPCN2-V219Ihet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.782 (possibly damaging)
0.5TPCN2-N257NFQNhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TPCN2-K376Rhet unknown0.269Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.02 (benign)
0.5TPCN2-M484Lhet unknown0.071Unknown
benign
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.333 (possibly damaging)
0.5TPCN2-L564Phomozygous0.719Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5WFDC3-R63Lhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5WFDC3-H36Dhomozygous0.670Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.207 (possibly damaging)
0.5LHX4-N328Shomozygous0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KCNQ2-N780Thomozygous0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYO7A-S1666Chomozygous0.610Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYO7A-L1954Ihomozygous0.552Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-R2342Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-T1381Ahet unknown0.754Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-Q852Rhomozygous0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-T789Ahet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.004 (benign), 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
0.5MTR-D919Ghet unknown0.262Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.777 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5MTR-L1082Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNFRSF1A-R121Qhet unknown0.016Complex/Other
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.148 (benign), Testable gene in GeneTests
0.5LBR-S154Nhomozygous0.713Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ANO2-C873Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ANO2-P143Shet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
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-M1808Ihet unknown0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IRF2BP2-A254Vhet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5IRF2BP2-S78PhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ATM-N1983Shomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ACAT1-A5Phomozygous0.220Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.137 (benign), Testable gene in GeneTests
0.5SNX19-L878Rhomozygous0.808Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-E834Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SNX19-N753Shomozygous0.617Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-L618Fhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-V361Lhomozygous0.671Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CLECL1-S52Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
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)
0.5ALG8-I439Thet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5KRT6B-G499Shet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KRT6B-I365Vhet unknown1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5CACNA1S-L1800Shet unknown0.251Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CACNA1S-R1658Hhet unknown0.111Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CACNA1S-R1539Chet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CACNA1S-L458Hhet unknownUnknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SALL4-L507Rhomozygous0.328Dominant
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.125 (benign), Testable gene in GeneTests with associated GeneReview
0.5TYR-S192Yhet unknown0.217Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.919 (probably damaging), 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
0.5GPATCH2-M474Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
0.5CAPRIN2-M519Vhet unknown0.568Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5CAPRIN2-P114Shet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5LRRK2-R50Hhomozygous0.927Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-S1647Thet unknown0.294Unknown
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
0.5VDR-M1Thet unknown0.687Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5DRD3-G9Shomozygous0.482Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CENPJ-S879Ahet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5CENPJ-P85Thet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.021 (benign), Testable gene in GeneTests with associated GeneReview
0.5FANCM-S175Fhet unknown0.242Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCM-V878Lhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCM-I1460Vhet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.5FANCM-P1812Ahet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.958 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5TTC9-P103AhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.071 (benign)
0.5TTC9-C214Fhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5MEN1-T546Ahomozygous0.791Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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
0.5PRG3-Y146Hhet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.277 (possibly damaging)
0.5PRG3-I109Thomozygous0.931Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRG3-C3Rhomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (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
0.5ZFYVE26-C1457Yhet unknown0.136Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.5OR2T11-Q309Rhomozygous0.948Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5OR2T11-C119Rhomozygous0.843Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5OR2T11-S107Shifthet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5OR2T11-E19Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5C14orf104-D768Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5C14orf104-E62Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IGHMBP2-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-T671Ahet unknown0.203Unknown
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
0.5SYNE2-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-L5186Mhet unknown0.708Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PHACTR4-L380Ihet unknown0.201Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.08 (benign)
0.5PHACTR4-S410Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PHACTR4-S410Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MLH3-P844Lhet unknown0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5MLH3-N826Dhomozygous0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ESRRB-P386Shet unknown0.058Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.069 (benign), Testable gene in GeneTests
0.5CINP-R164Hhet unknown0.171Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.02 (benign)
0.5CINP-N53Khet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5TECPR2-V320Ihomozygous0.869Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TECPR2-I683Vhet unknown0.219Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TECPR2-Q981Khet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging)
0.5ALPL-V522Ahet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NM_001080841-R42Chet unknown0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NM_001080841-R85Chet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NM_001080841-R102*het unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5DLK1-R101Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DLK1-S260Nhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5COX8C-P38Shet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5TSHR-E727Dhomozygous0.895Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GALC-T641Ahomozygous0.892Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GALC-I562Thet unknown0.446Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.167 (benign), 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
0.5SPRR2A-P15Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SPRR2A-Q7Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PEX16-V116Ihomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MAP4K5-D737Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5JAG1-P871Rhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.803 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5PAX9-A240Phomozygous0.323Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TEP1-I2486Mhet unknown0.373Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-V2214Ihet unknown0.326Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-S1195Phomozygous0.703Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-R1055Chomozygous0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-E948Khet unknownUnknown
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
0.5KCNJ9-A366Vhet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5USP21-G321Dhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging)
0.5COL4A1-T555Phomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A1-V7Lhet unknown0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SELE-S149Rhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.978 (probably damaging)
0.5SUCLA2-S199Thomozygous0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FNDC3A-T1017Ahet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
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
0.5NR_028064-T138TRAHThet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NR_028064-T138TRAHThet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NR_028064-H49QhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_028064-C18Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_028064-A9Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MDP1-G153Whet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5ACIN1-S647SRShomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ACIN1-S478Fhet unknown0.057Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging)
0.5ACIN1-S467Phomozygous0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.96 (probably damaging)
0.5ACIN1-A447Phomozygous0.997Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ACIN1-I311Mhomozygous0.505Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ACIN1-E281Delhet unknown0.061Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ARHGAP5-A1406Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.969 (probably damaging)
0.5COCH-T352Shomozygous0.382Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LRRC16B-G1161Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.975 (probably damaging)
0.5PCK2-Q121Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYH6-V1101Ahomozygous0.422Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.375OTOF-D304Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375OTOF-R82Chet unknown0.229Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.375TTF1-R713Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375TTF1-A290Shet unknown0.177Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375GSTP1-I105Vhet unknown0.338Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.375GSTP1-A114Vhet unknown0.045Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.018 (benign)
0.375TTBK2-T1062Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375TTBK2-L8Phet unknown0.560Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375TMEM43-R28Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375TMEM43-K168Nhet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.064 (benign), Testable gene in GeneTests with associated GeneReview
0.375TMEM43-M179Thet unknown0.487Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TNFRSF1B-M196Rhet unknown0.206Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.986 (probably damaging)
0.25HEATR1-E2017Ghomozygous0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.181 (benign)
0.25HEATR1-N1967Dhomozygous0.495Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.05 (benign)
0.25HEATR1-V1854Ahomozygous0.464Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HEATR1-N1694Shomozygous0.697Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HEATR1-S1559Nhet unknown0.218Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HEATR1-M607Vhet unknown0.346Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.988 (probably damaging)
0.25HEATR1-H348Rhet unknown0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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
0.25CYP4B1-R173Whet unknown0.184Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25EDARADD-M9Ihet unknown0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.25CCR2-V64Ihet unknown0.148Unknown
protective
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25NEUROD1-T45Ahet unknown0.754Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CASP8-K14Rhet unknown0.640Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CPO-M85Ihet unknown0.426Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.196 (benign), Testable gene in GeneTests
0.25CPO-S134Rhet unknown0.476Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FMO2-S195Lhet unknown0.465Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FMO2-E314Ghet unknown0.128Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NGF-A35Vhet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.123 (benign), Testable gene in GeneTests
0.25GBA-K144Rhet unknown0.619Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GBA-R140Whet unknown0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HOXD9-S180Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25HOXD9-Q269QQhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25LCE4A-C48CCSSGGChet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25LCE4A-Q85Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SCN1A-A1056Thet unknown0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25IL6R-D358Ahet unknown0.266Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.911 (probably damaging)
0.25LRP2-I4210Lhet unknown0.462Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.25LRP2-K4094Ehet unknown0.744Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
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
0.25CPS1-T344Ahet unknown0.583Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25CPS1-T1406Nhet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATIC-T116Shet unknown0.184Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25ATIC-L296Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MCEE-A76Vhet unknown0.177Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KCNQ4-H455Qhet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.191 (benign), Testable gene in GeneTests with associated GeneReview
0.25AGT-M268Thet unknown0.733Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LHCGR-N312Shet unknown0.573Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FSHR-S680Nhet unknown0.605Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FSHR-A307Thet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MLH1-I219Vhet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25TMEM81-F100Shet unknown0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.25TMEM81-R77Qhomozygous0.749Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25LDLRAP1-S202Phet unknown0.473Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.803 (possibly damaging), Testable gene in GeneTests
0.25C2orf83-W141*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25C2orf83-E104QhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C2orf83-S45Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25HSPG2-V2116Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25HSPG2-A1503Vhomozygous0.777Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25HSPG2-N765Shomozygous0.896Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25HSPG2-M638Vhomozygous0.978Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CTH-S403Ihet unknown0.175Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25C1orf173-V1528MhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C1orf173-G1179Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C1orf173-L851Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25C1orf173-H691Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C1orf173-P264Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PCDH15-R934Qhet unknown0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PCDH15-S19Ahet unknown0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.25DLAT-A43Vhet unknown0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DLAT-V318Ahet unknown0.587Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DLAT-D451Nhet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SPATA7-D2Nhet unknown0.155Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.665 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25SPATA7-V74Mhet unknown0.412Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATXN3-V212Mhet unknown0.358Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PLEKHG3-K468*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25PLEKHG3-R1157Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MTHFD1-K134Rhomozygous0.846Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MTHFD1-R653Qhet unknown0.320Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.25F7-R391Qhet unknown0.139Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25RPGRIP1-K192Ehet unknown0.446Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FSIP1-G528Ahet unknown0.164Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.239 (possibly damaging)
0.25FSIP1-L411Fhet unknown0.164Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.012 (benign)
0.25FSIP1-C402Rhet unknown0.455Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FSIP1-L125Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CLCN7-V418Mhet unknown0.103Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PKD1L2-M2313Ihet unknown0.883Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-S2207Rhomozygous0.985Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-S2137Fhomozygous0.870Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-L2117Ihet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Y2079Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PKD1L2-A2054Thet unknown0.185Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Y2048Shet unknown0.169Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Q2035Rhet unknown0.210Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-M1866Vhomozygous0.957Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Y1699Chet unknown0.198Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-S1665Yhet unknown0.114Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-M1645Vhet unknown0.195Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Q1616Rhet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-K1575*het unknown0.110Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.25PKD1L2-V1505Mhet unknown0.212Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-N1330Dhomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-S1326Phomozygous0.734Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-T1048Ahomozygous0.679Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Q999Hhomozygous0.266Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-R998Chomozygous0.262Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-L711Phomozygous0.805Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-P512Lhomozygous0.751Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-K416Qhomozygous0.788Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-P301Ahet unknown0.524Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-R252Whet unknown0.560Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-N236Shifthet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25PKD1L2-E221Ghomozygous0.708Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Q220*het unknown0.173Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.25PKD1L2-V183Ihet unknown0.212Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-G129Dhet unknown0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-Q120Lhet unknown0.451Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-W73Rhet unknown0.549Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PKD1L2-V20Ahet unknown0.548Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FAM38A-I2265Vhet unknown0.183Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FAM38A-K1878Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25FAM38A-P1857Shet unknown0.185Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FAM38A-P1398Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25FAM38A-A778Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25FAM38A-R407Ghet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25FAM38A-V394Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25FAM38A-V250AhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25FAM38A-I83ThomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25HYDIN-E4159Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25HYDIN-T4004Ahet unknown0.432Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HYDIN-Q3904Shifthet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25HYDIN-M3868Rhet unknown0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HYDIN-V3839Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HYDIN-V3741Ihet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HYDIN-A3738Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HYDIN-L3315Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HYDIN-A3290Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HYDIN-I2693Shet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HYDIN-K2588Rhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HYDIN-D2569Nhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HYDIN-G2557Ehet unknown0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HYDIN-TEKER2520Delhet unknown0.644Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HYDIN-L2501Shet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HYDIN-P2454Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25HYDIN-N2444Ihet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25HYDIN-E2305Ghet unknown0.347Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.988 (probably damaging)
0.25HYDIN-R2297Ghet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.997 (probably damaging)
0.25HYDIN-Q2241Rhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25HYDIN-V2098Mhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25HYDIN-R2086Chet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.25HYDIN-V1717Mhet unknown0.144Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.651 (possibly damaging)
0.25HYDIN-I1533Vhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25HYDIN-V1228Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25HYDIN-I1077Vhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.082 (benign)
0.25HYDIN-N724Dhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.955 (probably damaging)
0.25HYDIN-T690Ahet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.955 (probably damaging)
0.25HYDIN-E366Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CETP-V422Ihet unknown0.494Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ABAT-Q56Rhet unknown0.485Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ZNF423-P437Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ZNF423-D435Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25IRX6-E229Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25IRX6-E268Delhet 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
0.25SLC25A15-I254Lhet unknown0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KRT83-H493Yhet unknown0.791Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KRT5-S528Ghet unknown0.152Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KRT5-D197Ehet unknown0.276Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.25IRAK4-A428Thet unknown0.184Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GYS2-M363Vhet unknown0.729Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYH15-T1125Ahet unknown0.180Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.007 (benign)
0.25MYH15-H504Yhet unknown0.578Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.997 (probably damaging)
0.25CD3G-V131Fhet unknown0.265Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.773 (possibly damaging), Testable gene in GeneTests
0.25SCNN1A-T722Ahomozygous0.790Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SCNN1A-R240Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KRT1-K633Rhet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KRT76-T629Mhet unknown0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KRT76-A359Thomozygous0.656Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KRT76-A283Thet unknown0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.852 (probably damaging)
0.25KRT76-E276*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25SACS-V3369Ahet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.769 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25FREM2-S745Phomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FREM2-T2326Ihet unknown0.768Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DHX37-R1081Qhomozygous0.573Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.136 (benign)
0.25DHX37-D1059Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25DHX37-S869Ghomozygous0.590Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DHX37-M96Ihomozygous0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HPD-T33Ahet unknown0.884Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, 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
0.25MMAB-R19Qhet unknown0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PXN-Q283Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PXN-S73Ghomozygous0.906Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ACADS-G209Shet unknown0.128Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests
0.25AK023048-C68Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25AK023048-T73AhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25AK023048-M76VhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25AK023048-H112Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25AK023048-L121Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CHRNB1-E32Ghet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.288 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25CBR3-V244Mhet unknown0.398Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.014 (benign)
0.25TMPRSS3-I253Vhet unknown0.282Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TMPRSS3-G111Shet unknown0.230Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC2A10-A206Thet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MMP9-Q279Rhet unknown0.477Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MMP9-R574Phomozygous0.813Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MKKS-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
0.25RRBP1-S766Lhomozygous0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RRBP1-L610Hhomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RRBP1-Q551*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25SLC19A1-H27Rhet unknown0.447Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25COL6A1-R850Hhet unknown0.264Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25XIAP-Q423Phet unknown0.277Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.053 (benign), Testable gene in GeneTests with associated GeneReview
0.25F8-D1260Ehet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HTR2C-C23Shet unknown0.191Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.25ARSE-G424Shet unknown0.543Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25PRODH-R521Qhet unknown0.887Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PRODH-W185Rhet unknown0.826Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PRODH-P19Qhet unknown0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TRIOBP-S217Nhet unknown0.413Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests
0.25TRIOBP-Q398Delhet unknown0.308Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TRIOBP-N863Khet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.25TRIOBP-F1187Lhet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests
0.25TRIOBP-H1300Rhomozygous0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.25TRIOBP-E1372Dhet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests
0.25TRIOBP-W1377Rhomozygous0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.084 (benign), Testable gene in GeneTests
0.25SCO2-R20Phet unknown0.690Unknown
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
0.25TRIB3-Q84Rhet unknown0.188Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25UNC13D-K867Ehet unknown0.596Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ACOX1-I312Mhet unknown0.492Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25COG1-N392Shet unknown0.536Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, 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
0.25TNFRSF13B-P251Lhet unknown0.206Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.183 (benign), Testable gene in GeneTests with associated GeneReview
0.25KRTAP3-2-CD48WNhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25KRTAP3-2-R27Chet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.25C17orf57-V312Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C17orf57-Y546*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25GAA-H199Rhet unknown0.574Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GAA-R223Hhet unknown0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GAA-V780Ihet unknown0.720Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CD226-S307Ghet unknown0.423Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZNF224-M118Vhomozygous0.793Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZNF224-H162Lhomozygous0.780Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.262 (possibly damaging)
0.25ZNF224-K640Ehet unknown0.593Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DMPK-L423Vhet unknown0.121Unknown
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
0.25CPAMD8-Q1890Rhet unknown0.201Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CPAMD8-A1351Vhet unknown0.177Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CPAMD8-T1315Ihet unknown0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CPAMD8-H593Rhet unknown0.639Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CPAMD8-A560Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CPAMD8-M368Ihet unknown0.189Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CPAMD8-M312Thet unknown0.733Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25AK304151-S34Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25AK304151-F47Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25AK304151-V52Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ZNF317-Q19Hhet unknown0.108Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ZNF317-Q19Hhet unknown0.108Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ZNF562-G141Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ZNF562-E93Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NOTCH3-A2223Vhet unknown0.553Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ANKK1-G318Rhet unknown0.165Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.25ANKK1-G442Rhet unknown0.541Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ANKK1-H490Rhet unknown0.210Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25ANKK1-Q523Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ALG9-V289Ihet unknown0.332Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.907 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25CDHR2-V424Ahomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDHR2-N1122Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25F13A1-E652Qhet unknown0.177Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25F13A1-V35Lhet unknown0.143Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25NIPAL4-R213Ghet unknown0.505Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
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
0.25SPINK5-R711Qhet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TCOF1-P1139Rhet unknown0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RNF39-A304Ehet unknown0.238Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RNF39-G263Chet unknown0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RNF39-S203Phet unknown0.223Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-W37Ghet unknown0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-Y59Chet unknown0.293Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-V152Mhet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-M174Vhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MICA-E196Khet unknown0.363Unknown
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-S229Ghet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-I236Thet unknown0.570Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-V244Lhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MICA-R274Qhet unknown0.538Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-P330Lhet unknown0.262Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25EFHC1-M448Thet unknown0.111Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.578 (possibly damaging), Testable gene in GeneTests
0.25LMBRD1-D469Ehet unknown0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25PEX6-P939Qhet unknown0.339Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PRPH2-D338Ghet unknown0.761Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PRPH2-R310Khet unknown0.943Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PRPH2-Q304Ehet unknown0.877Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25COL11A2-E276Khet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.651 (possibly damaging), 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
0.25KIF6-W719Rhet unknown0.538Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.25PCDHB7-E120Khet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.137 (benign)
0.25PCDHB7-V389Lhet unknown0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PCDHB7-A501Thet unknown0.143Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PCDHB7-E632*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25SRA1-V110RLhet unknown0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25UGT2B7-Y268Hhet unknown0.727Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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
0.25UGT2B15-K523Thet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25UGT2B15-Y85Dhet unknown0.500Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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)
0.25SLCO2A1-A396Thet unknown0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLCO2A1-S307Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25OPA1-S158Nhet unknown0.482Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25DOK7-H113Phet unknown0.183Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DOK7-R120Qhet unknown0.146Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DOK7-T137Ihet unknown0.177Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25AK298931-W38*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25AK298931-T4Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25FGB-R478Khet unknown0.146Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC22A4-I306Thet unknown0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25SLC22A4-L503Fhet unknown0.142Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25C5orf20-R117*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25C5orf20-N97Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C5orf20-T75Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25FBN2-V965Ihet unknown0.714Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TTC37-R1296Shet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.926 (probably damaging)
0.25TTC37-E974Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TTC37-L437Vhet unknown0.256Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MTRR-K377Rhet unknown0.260Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MTRR-H622Yhet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ITGA2-E534Khet unknown0.130Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ARSB-V358Mhet unknown0.249Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.117 (benign), Testable gene in GeneTests
0.25OPRM1-N40Dhet unknown0.204Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OPRM1-Q402Hhomozygous0.882Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MYO3A-R319Hhet unknown0.376Unknown
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-T1284Shet unknown0.406Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign), 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
0.25ADRB1-G389Rhet unknown0.705Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PLCE1-R1575Phet unknown0.517Unknown
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
0.25PLG-D472Nhet unknown0.151Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RNF207-L520Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25RNF207-N573Shet unknown0.474Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RNF207-G603Ahet unknown0.165Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.25BMPR1A-P2Thet unknown0.549Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ACADSB-R13Khet unknown0.171Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.08 (benign), Testable gene in GeneTests
0.25IRF7-Q412Rhet unknown0.465Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25IRF7-S388Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25IRF7-A387Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25IRF7-K179Ehet unknown0.473Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.137 (benign)
0.25SPTBN2-R1880Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SPTBN2-V1034Ahet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25SPTBN2-S825Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MTMR2-K3Thet unknown0.216Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25EHBP1L1-V133Lhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25EHBP1L1-E148Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25EHBP1L1-R307Qhet unknown0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.19 (benign)
0.25EHBP1L1-V538Ghet unknown0.411Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.992 (probably damaging)
0.25EHBP1L1-D569Vhomozygous0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MADD-V751Mhet unknown0.315Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
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
0.25ABCC8-A1369Shet unknown0.755Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25USH1C-E819Dhet unknown0.408Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RET-G691Shet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.16 (benign), Testable gene in GeneTests with associated GeneReview
0.25NR_001296-S45Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NR_001296-G49Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NR_001296-I53Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NR_001296-S54Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NR_001296-Q56Khet unknown0.576Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.025 (benign), Nonsense mutation
0.25NR_001296-Q56Khet unknown0.576Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.025 (benign), Nonsense mutation
0.25NR_001296-I103ThomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NR_001296-N182KhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ABCB1-S893Ahet unknown0.625Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DBH-A318Shet unknown0.104Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25ABCB4-R652Ghet unknown0.189Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GLI3-T183Ahet unknown0.663Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PARK2-V380Lhet unknown0.169Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GPR146-G11Ehomozygous0.084Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GPR146-R262*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25GARS-P42Ahet unknown0.654Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL1A2-P549Ahet unknown0.907Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SETX-I2587Vhet unknown0.591Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SETX-T1855Ahet unknown0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SETX-I1386Vhet unknown0.494Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SETX-G1252Rhet unknown0.494Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SETX-D1192Ehet unknown0.598Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25C8orf49-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
0.25ADAMTS13-Q448Ehet unknown0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MUSK-S159Ghet unknown0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25MUSK-M413Ihet unknown0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
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
0.25VPS13B-G3407Rhet unknown0.116Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0KRT17-K262*het unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Nonsense mutation, Testable gene in GeneTests with associated GeneReview
0GJB2-L56Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview

Input file format: CGIVAR

Genome build: b37

Genome coverage: 2,765,312,899 bases (97.6% of callable positions, 91.5% of total positions)

Coding region coverage: 32,889,859 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":

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