hu4C20BC - GET-Evidence variant report

Variant report for hu4C20BC

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
2GJB2-M34TModerateWell-establishedWell-established pathogenic

Recessive, Carrier (Heterozygous)
0.00994609Several labs have reported in ClinVar that this causes deafness in a recessive manner: http://www.ncbi.nlm.nih.gov/clinvar/variation/17000/ This variant seems to be "mild", with a stronger effect when combined with a more severe variant. The variant is relatively common: according to ExAC data, 1 in 40 with European ancestry (and 1 in 25 Finnish) are carriers of this variant. Löppönen et al 2012 report that homozygotes for the variant have mild to moderate hearing impairment.1
3HABP2-G534EModerateLikelyLikely pathogenic

Unknown, Heterozygous
0.0280721Known as the "Marburg I" polymorphism, this variant is associated with increased risk of coronary heart disease (CHD) in individuals with elevated cholesterol, triglyceride, and fibrinogen levels (5-fold risk of a CHD event, compared to 2-fold risk increase in people with the same risk factors but do not have this variant). In individuals without these elevated levels, however, carriers of the variant do not appear to have any increased risk of CHD.1
4PRF1-A91VLowLikelyLikely pathogenic

Complex/Other, Heterozygous
0.0325339This variant may be associated with a slightly increased susceptibility to some rare blood disorders, in particular autoimmune proliferative disease, if combined with a more severe mutation elsewhere. Most reports lack statistical significance.1
5rs5186LowLikelyLikely pathogenic

Unknown, Heterozygous
0.214878This common noncoding genetic variant has an allele frequency of ~30% and is associated with an increased risk of hypertension. If ~25% of non-carriers have hypertension, Bonnardeaux et al's data predict ~4% increased risk of hypertension per copy of this variant. This SNP is in the 3' noncoding region of the AGTR1 transcript (angiotensin II type 1 receptor), also known as AT2R1 or AT1R, which is a target of hypertension drugs.1
6BRCA2-N372HLowUncertainUncertain pathogenic

Recessive, Homozygous
0.23656This is a common variant of BRCA2 (HapMap allele frequency of 23%). The variant is weakly associated with an increased chance of breast cancer, and zygosity of the variant is associated with sex of children: male children are more likely to be homozygous for this variant, female children are more likely to be heterozygous.1
7RET-R982CLowUncertainUncertain pathogenic

Dominant, Heterozygous
0.016174Initially suspected of causing Hirschsprung’s disease, this rare variant has been later reported as present in unaffected controls (allele frequency around 1%). Supporting a lack of effect: Panini et al. did not find loss of function effects seen in other variants, and Svensson et al. report unaffected relatives in a family who carried the same variant. OMIM lists it as reported to cause increased susceptibility, but there do not appear to be any statistically significant reports supporting this hypothesis.1
8TGIF1-P83ShiftLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.138889Severe variants in this gene are associated with holoprosencephaly disorders when combined with loss-of-function variants in SHH. Haploinsufficiency was identified in some families with this condition. It is unclear how likely this variant is to occur in combination with an SHH variant, or what phenotypic effect the variant would have on its own.1
9TGFB1-R25PLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.0488858This variant in a growth factor gene is associated with variation in TGFB1 levels; this has been associated with various pathogenic and some protective effects, including: more hepatic fibrosis progression in hep C patients, lower risk of cleft palate, anticorrelation with longevity, higher risk of myocardial infarction and lower risk of hypertension.1
10POLG-Q1236HLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.0581893Generally a nonpathogenic polymorphism, but may have a modifier effect that increases severity when combined in cis with other pathogenic variants.1
11ELAC2-S217LLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.273471Reported to be associated with increased susceptibility to prostate cancer, but later studies weaken the hypothesis. Xu et al.'s meta-analysis concludes that there is a small but significant increased risk (OR = 1.13). Assuming a lifetime risk of 16% for prostate cancer we calculate this leads to an increased risk of ~1.5% (17.5% total).1
12TP53-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
13WFS1-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
14SP110-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
15ACAD8-S171CLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.018312This variant (a.k.a S149C) was found as a compound heterozygote (with M130T) in a male newborn of European descent with isobutyryl-CoA dehydrogenase deficiency (identified by newborn screening). Lack of controls means that significance cannot be established and allele frequency cannot be estimated. Oglesbee et al. comment that IBD-deficiency may be relatively benign, most cases identified by newborn screening have remained asymptomatic, but Ferreira et al. report a symptomatic individual homozygous for this variant.1
16DPYD-M166VHighLikelyLikely pharmacogenetic

Unknown, Heterozygous
0.0778955Associated with DPYD deficiency and poor prognosis for chemotherapy w/ 5-flurorouracil. 1
17TPMT-Y240CLowWell-establishedWell-established pharmacogenetic

Complex/Other, Heterozygous
0.0461825Alone, this variant is known as TPMT*3C -- but often, especially in Caucasians, it is found together with another nonsynonymous variant (A154T) to produce the TPMT*3A variant. Both variants are associated with loss of thiopurine methyltransferase (TPMT) activity, although *3C is milder than *3A. Inability to metabolize thiopurine drugs can lead to severe adverse reactions. Heterozygotes may be advised to take a reduced dosage due to reduced metabolism of the drug.1
18TPMT-A154TLowLikelyLikely pharmacogenetic

Recessive, Carrier (Heterozygous)
0.0280774Usually this variant is found in combination Y240C, forming the TPMT*3A variant. When alone, this variant produces the *3B variant. Both variants are associated with loss of thiopurine methyltransferase (TPMT) activity. Inability to metabolize thiopurine drugs can lead to severe adverse reactions. Heterozygotes may be advised to take a reduced dosage due to reduced metabolism of the drug.1
19FUT2-W154XModerateWell-establishedWell-established protective

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

Complex/Other, Heterozygous
0.339561This variant is associated with some protective effects for prion disease -- individuals homozygous for this variant are less susceptible to Creutzfeldt-Jakob, and Papua New Guinea individuals heterozygotes at this site are less susceptible to kuru. 1
21CFH-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
22KCNJ11-K23ELowLikelyLikely protective

Unknown, Homozygous
0.738148This variant is associated with decreased risk of type 2 diabetes. It is unclear whether this variant has additive effects, or acts in a dominant or recessive manner. Assuming diabetes has a lifetime risk of 36%, we estimate a decreased risk of around 1-2% per copy of this variant.1
23MTR-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
24IRS2-G1057DLowUncertainUncertain protective

Unknown, Heterozygous
0.232615a.k.a Gly1057Asp, insulin receptor substrate-2 IRS2. The rs1805097(G) allele is associated with the Gly, and the (A) allele with Asp. A longevity study concluded that rs1805097(A;A) individuals were about twice as likely to live over 85 y/o (odds ratio 2.03, CI:1.39-2.99, p = .0003). 1
25NEFL-S472ShiftLowLikelyLikely benign

Unknown, Homozygous
Although a frameshift in this gene would be predicted to cause Charcot-Marie Neuropathy, this particular position appears to reflect a single base insertion error/mutation in the reference genome (in other words, normal individuals are always homozygous for a deletion at this position relative to reference). See chr8:24,811,060-24,811,080 annotations on UCSC.1
26COL9A2-T246MLowLikelyLikely benign

Unknown, Heterozygous
0.0252835Probably benign.1
27DMD-R2155WLowLikelyLikely benign

Unknown, Heterozygous
0.0269529Probably benign.1
28MLH1-I219VLowUncertainUncertain benign

Dominant, Heterozygous
0.239822Computational evidence, functional assays, and case/control studies suggest this variant is probably benign.1
29FBN2-S2580LLowUncertainUncertain benign

Dominant, Heterozygous
0.0779885Probably benign -- initially associated with congenital contractual arachnodactyly, but later reports classify it as a nonpathogenic polymorphism.1
30GUCY2D-A52SLowUncertainUncertain benign

Recessive, Homozygous
0.21016One publication suggested that this variant possibly causes Leber's congenital amaurosis in a recessive manner, but the frequency data (36% in 1000 genomes) contradicts any significant pathogenic effect.1
31LOXL1-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
32RPGRIP1-A547SLowUncertainUncertain benign

Complex/Other, Heterozygous
0.232202Probably benign. Implicated in causing autosomal recessive cone-rod dystrophy, but a later report found the same incidence in controls and concludes it is not causal.1
33APOB-Y1422CLowUncertainUncertain benign

Unknown, Homozygous
0.999628This position is almost certainly an error in the HG18 reference sequence. 1
34ERCC6-R1230PLowUncertainUncertain benign

Unknown, Heterozygous
0.0695297Probably benign.1
35CBLC-H405YLowUncertainUncertain benign

Unknown, Heterozygous
0.0374605Probably benign.1
36SLC45A2-L374FLowUncertainUncertain benign

Unknown, Homozygous
0.691764Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma.1
37PCSK9-G670ELowUncertainUncertain benign

Unknown, Homozygous
0.888269This variant is likely benign. 1
38MAPT-R370WLowUncertainUncertain benign

Unknown, Heterozygous
0.155549Probably benign.1
39PTCH1-P1315LLowUncertainUncertain benign

Unknown, Heterozygous
0.29631Common polymorphism, presumed benign.1
40RP1-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
41TYR-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
42DSP-R1537CLowUncertainUncertain benign

Unknown, Heterozygous
0.0104109Probably benign / nonpathogenic.1
VariantPrioritization scoreAllele
freq
Num of
articles
Zygosity and Prioritization Score Reasons

Exome coverage: 31511900 / 33212919 = 94.88%

GeneChromosomeCoverageMissingLengthMissing regions
1AGRN10.3665689149560138886138955553-955753, 957581-957601, 957615, 957629-957630, 957633-957641, 957670-957842, 970657-970690, 970696-970699, 976045-976046, 976054-976139, 976149-976190, 976203-976260, 976553-976606, 976612-976777, 976858-976904, 976912-976953, 976973-977014, 977026-977028, 977039, 977052-977054, 977058-977062, 977081-977082, 977388-977437, 977465, 977476, 977479-977500, 978625-978628, 978641, 978687-978689, 978692, 978696-978721, 978752-978778, 978796-978804, 978807-978815, 978918, 979012-979112, 979203-979217, 979234-979278, 979313-979320, 979330-979399, 979489-979493, 979499-979551, 979582-979629, 979726-979746, 979805, 980552, 980598-980618, 980624-980626, 980638-980639, 980748-980749, 980755-980757, 980778-980787, 980805-980808, 980814-980823, 980842-980897, 981113-981114, 981123, 981136-981150, 981178-981199, 981210, 981222, 981239-981256, 981344-981364, 981378-981379, 981391, 981404-981421, 981543-981586, 981608-981645, 981777-981803, 981810, 981814-981819, 981827-981875, 981882-981899, 981929-982003, 982013-982055, 982071-982094, 982200-982262, 982274-982318, 982722-982780, 982953-982962, 982979-982986, 982994, 983006-983055, 983163-983257, 983397-983440, 983479-983534, 983547-983745, 984247-984375, 984384, 984416-984439, 984616-984682, 984690-984750, 984782-984808, 984946-984954, 984997-985016, 985029-985052, 985078-985082, 985092-985145, 985155-985160, 985294-985300, 985311-985312, 985322-985373, 985383-985385, 985395-985399, 985408-985410, 985613-985620, 985677-985709, 985807-985830, 985850-985891, 985944, 986106-986111, 986117-986134, 986145-986181, 986189-986217, 986633-986749, 986833-986981, 987001-987004, 987108-987144, 987155, 987164-987167, 987174-987195, 989139-989158, 989198, 989206-989221, 989225-989237, 989337-989340, 989828-989846, 989874, 989888-989897, 989914, 990204-990215, 990224-990231, 990244-990245, 990276-990283, 990309-990361
2GABRD10.3973509933774881913591950863-1950930, 1956381-1956389, 1956453-1956455, 1956798-1956801, 1956814-1956837, 1956971-1957004, 1957030-1957079, 1957119-1957155, 1957167-1957177, 1959030, 1959033-1959045, 1959066-1959092, 1959609-1959613, 1959618-1959643, 1959666-1959718, 1960550-1960575, 1960578, 1960588-1960635, 1960665-1960705, 1960990-1961059, 1961080-1961096, 1961156-1961194, 1961422-1961500, 1961521-1961532, 1961549-1961578, 1961586-1961613, 1961642-1961654, 1961672-1961721
3PEX1010.759429153924572369812337234-2337250, 2337923-2337977, 2337993-2338029, 2338049, 2338257-2338272, 2340007-2340031, 2340038, 2340143-2340149, 2340267, 2340270-2340274, 2341881, 2343830-2343897, 2343913, 2343927
4NPHP410.9282877832282230742815923396, 5923967-5923992, 5925216, 5935057-5935073, 5935110-5935114, 5935156, 5947358, 5947361, 5947370-5947372, 5947420-5947428, 5947457-5947471, 5950973, 5951051, 6029147-6029165, 6029196-6029198, 6029252-6029267, 6029291, 6029302-6029306, 6029310, 6038330-6038473, 6046228-6046229, 6046247-6046268, 6046329-6046340
5ESPN10.7267056530214470125656485016-6485147, 6485170-6485189, 6485215-6485250, 6485261-6485305, 6488286-6488294, 6488300-6488353, 6488378-6488393, 6488429, 6488461-6488479, 6500383-6500420, 6500449-6500464, 6500477, 6500485, 6500686, 6500707-6500724, 6500830-6500868, 6501031-6501065, 6501097-6501106, 6505779, 6505805, 6505851-6505855, 6505858, 6505900, 6505917, 6508702, 6508712, 6508730, 6508760-6508766, 6508828-6508857, 6508922-6508928, 6508985, 6509054-6509078, 6509100-6509106, 6509139-6509151, 6511703-6511709, 6511907-6511942, 6512106-6512149, 6517286-6517305
6PLEKHG510.9103167137033628631896527904, 6528255, 6528261-6528262, 6529183-6529185, 6529412, 6529473, 6529492-6529501, 6529625, 6529678-6529717, 6530836-6530860, 6530934-6530943, 6531114, 6531117, 6532624, 6533404-6533414, 6534073-6534074, 6534117-6534124, 6534183-6534186, 6534525-6534555, 6534571-6534581, 6534637-6534647, 6535111-6535172, 6535537-6535561, 6556611-6556629, 6557380-6557383
7KIF1B10.998682476943357531310316305-10316311
8PEX1410.9223985890652688113410684425-10684427, 10684431-10684461, 10687354-10687356, 10687361, 10689860-10689909
9TARDBP10.9341365461847482124511080596-11080598, 11082274-11082280, 11082322-11082362, 11082474, 11082530, 11082584-11082605, 11082660-11082666
10MASP210.67782629791363664206111086961-11086969, 11087235-11087257, 11087327, 11087553-11087556, 11090806-11090812, 11090824-11090859, 11090892, 11090916, 11090919-11090922, 11094885-11094898, 11094942, 11097835-11097846, 11097850-11097868, 11102932-11102947, 11102951-11102956, 11102959, 11102968-11103001, 11103021-11103046, 11103062-11103067, 11103073, 11103077-11103079, 11103397-11103445, 11103454-11103558, 11103568-11103592, 11105479-11105526, 11105564-11105596, 11106613-11106627, 11106651-11106690, 11106756-11106790, 11106948-11106987, 11107133-11107176, 11107260-11107264
11MTHFR10.9654997463216668197111853997-11854004, 11854041, 11854098-11854107, 11854549-11854558, 11855380-11855405, 11861430-11861437, 11862976, 11863078, 11863111-11863113
12PLOD110.9780219780219848218412023672-12023680, 12026314-12026323, 12026350-12026373, 12030762-12030766
13MFN210.9912049252418620227412049257, 12056340, 12064927, 12066597-12066598, 12066617, 12066745-12066750, 12067177-12067184
14CLCNKA10.83817829457364334206416352738, 16353911, 16354316-16354328, 16354394, 16355638, 16355643-16355684, 16355724-16355731, 16356277, 16356541-16356561, 16356956-16356969, 16357028-16357071, 16357094-16357096, 16357099-16357139, 16357149-16357155, 16358205-16358237, 16358274-16358279, 16358698-16358714, 16358734-16358755, 16358781-16358786, 16358938-16358945, 16359003-16359006, 16359015-16359021, 16359691-16359710, 16360106-16360111, 16360141-16360147
15CLCNKB10.88517441860465237206416372080-16372083, 16372095, 16372149-16372151, 16372179-16372181, 16373044-16373050, 16373124, 16377999-16378000, 16378015-16378027, 16378273-16378294, 16378693-16378728, 16378767-16378796, 16378812, 16378817, 16378829-16378833, 16378860-16378892, 16380180-16380185, 16380196, 16380262-16380267, 16381930-16381937, 16382173-16382176, 16382179-16382184, 16382191-16382201, 16382222-16382248, 16383364-16383369
16ATP13A210.8848433530906408354317312716-17312723, 17312730, 17312743, 17312759-17312777, 17312793-17312796, 17312840-17312849, 17313013, 17313352-17313364, 17313547-17313548, 17313554, 17313557, 17313598-17313620, 17314674, 17314880-17314907, 17314932, 17314942, 17314953-17314954, 17316187, 17318229, 17318232, 17318303-17318311, 17318588, 17318760, 17318868-17318869, 17319011-17319016, 17320266-17320282, 17320299, 17320302, 17320320, 17322472, 17322480, 17322575-17322587, 17322613, 17322644, 17322755-17322786, 17322890-17322962, 17323538-17323562, 17323613, 17323619, 17326507-17326509, 17326512-17326513, 17326517, 17326564-17326573, 17326595-17326637, 17326744-17326769, 17327015-17327018, 17331873, 17338224-17338233
17SDHB10.969157769869512684317350533, 17355111-17355125, 17371256-17371265
18ALDH4A110.996453900709226169219208247-19208249, 19212958, 19212965, 19228962
19ALPL10.997460317460324157521890622-21890623, 21903906-21903907
20HSPG210.976092896174863151317622151197-22151200, 22154633-22154645, 22157547-22157551, 22165420, 22167598-22167631, 22168039-22168040, 22168075-22168085, 22170735-22170741, 22173887, 22174290, 22174295, 22175406-22175423, 22176956-22176977, 22179208, 22181213, 22181419-22181423, 22186092-22186093, 22186102-22186106, 22186156-22186169, 22186353, 22186407, 22186434-22186440, 22186670-22186686, 22190627-22190635, 22191789, 22192244-22192248, 22192252-22192254, 22198824, 22199131-22199155, 22199159-22199160, 22199520-22199543, 22211363-22211366, 22213793, 22217118-22217119, 22217124, 22263648-22263710
21WNT410.9176136363636487105622456132-22456135, 22456299-22456304, 22469339-22469415
22HMGCL10.99386503067485697824134626, 24134644, 24134721, 24134777-24134779
23FUCA110.86295503211991192140124175157, 24180855-24180880, 24180893, 24186289-24186291, 24186345-24186348, 24186354-24186360, 24186373-24186377, 24186380-24186390, 24189713-24189714, 24192003-24192007, 24192104-24192115, 24194404-24194410, 24194434-24194474, 24194650, 24194676-24194734, 24194741-24194744, 24194748, 24194773-24194774
24LDLRAP110.99892125134844192725893436
25SEPN110.88609112709832190166826126722-26126904, 26136296-26136302
26YARS10.996849401386265158733252670, 33252674-33252676, 33256803
27ZMPSTE2410.996498599439785142840747102, 40747111-40747113, 40756552
28KCNQ410.93630268199234133208841249766-41249781, 41249808, 41249811-41249815, 41249850-41249856, 41249867-41249869, 41249882-41249892, 41249920-41249960, 41250015-41250048, 41284293-41284302, 41285085-41285089
29CLDN1910.99259259259259567543203962-43203966
30LEPRE110.998190863862514221143213950-43213953
31EIF2B310.999264164827081135945345667
32UROD10.997282608695653110445480482, 45481141, 45481165
33POMGNT110.9919314170448816198346661546, 46662438-46662442, 46662457, 46662724-46662728, 46663417-46663420
34STIL10.994828032066220386747748107-47748126
35ORC110.9791183294663654258652838929, 52839039-52839047, 52840546-52840550, 52841118, 52841124, 52841135, 52841163, 52841268-52841271, 52850326-52850330, 52850357, 52851524-52851531, 52854155-52854162, 52854167, 52854219-52854220, 52854223-52854228
36CPT210.996459281740017197753676691-53676697
37DHCR2410.9806576402321130155155331072, 55331112-55331117, 55337052-55337059, 55352600-55352614
38PCSK910.9971139971146207955521683, 55521839-55521842, 55523781
39LEPR10.9871355060034345349866036347-66036354, 66036476-66036485, 66067535-66067544, 66070896, 66102066, 66102269-66102275, 66102396-66102401, 66102436-66102437
40CTH10.9885057471264414121870895508-70895512, 70897907-70897914, 70897918
41ABCA410.999413661682794682294577067-94577070
42DPYD10.998375568551015307898205973-98205976, 98293732
43AGL10.9982604914111884599100387198-100387205
44DBT10.9993098688750911449100696363
45COL11A110.99285321605278395457103345272-103345279, 103364279-103364285, 103364497-103364499, 103474063-103474072, 103488382-103488392
46GNAT210.9990610328638511065110155407
47GSTM110.998477929984781657110230839
48AMPD110.99331550802139152244115215769, 115215841-115215845, 115215885-115215893
49HSD3B210.97497765862377281119119964932-119964938, 119965218-119965238
50NOTCH210.99838187702265127416120539778-120539784, 120548051, 120548055, 120572609-120572610, 120611960
51PRPF310.999512670565312052150317016
52FLG10.76193993106844290112186152276112, 152276149, 152276222, 152276368, 152276404-152276447, 152276573, 152276583, 152276616, 152276696-152276742, 152276758-152276780, 152276818, 152276823, 152276826, 152276862-152276892, 152276948-152276950, 152277052-152277087, 152277131, 152277162-152277183, 152277209-152277258, 152277342-152277379, 152277418-152277447, 152277671, 152277687-152277720, 152278046-152278052, 152278305-152278306, 152278431-152278437, 152278659-152278692, 152278853-152278859, 152279016-152279022, 152279256-152279281, 152279360, 152279376, 152279403-152279409, 152279550-152279552, 152279562-152279567, 152279615-152279645, 152279744-152279751, 152279841, 152279892, 152279895, 152279949-152279978, 152279994-152280005, 152280029-152280055, 152280086, 152280110, 152280145-152280149, 152280250, 152280265, 152280290-152280311, 152280329-152280350, 152280433-152280474, 152280556-152280576, 152280594-152280617, 152280643-152280674, 152280682-152280696, 152280788, 152280861-152280903, 152281020, 152281039, 152281061-152281101, 152281197-152281231, 152281281-152281307, 152281350-152281356, 152281385-152281418, 152281523, 152281534, 152281586-152281613, 152281621-152281660, 152281687-152281710, 152281745-152281774, 152281795-152281801, 152281836-152281879, 152281935-152281951, 152282013-152282060, 152282108-152282129, 152282174-152282216, 152282232-152282269, 152282300-152282314, 152282377-152282394, 152282436, 152282493-152282530, 152282548-152282586, 152282703-152282719, 152282771-152282779, 152282809-152282841, 152282968-152282988, 152283005-152283050, 152283119, 152283123, 152283126, 152283135, 152283183-152283212, 152283228-152283254, 152283264-152283308, 152283329-152283371, 152283489-152283536, 152283548-152283576, 152283633-152283660, 152283673-152283709, 152283736-152283742, 152283783-152283804, 152283843-152283870, 152283891, 152283898-152283900, 152283968-152283990, 152284071-152284110, 152284122-152284128, 152284140-152284185, 152284194-152284217, 152284225-152284266, 152284423-152284424, 152284475-152284508, 152284626-152284658, 152284803-152284840, 152284851-152284882, 152284943-152284964, 152284970-152285011, 152285040-152285082, 152285091-152285107, 152285116-152285148, 152285171-152285198, 152285206-152285233, 152285281-152285303, 152285370, 152285401-152285437, 152285472, 152285647, 152285655, 152285704, 152285750-152285792, 152285927-152285937, 152285999-152286035, 152286083-152286093, 152286182-152286189, 152286254-152286293, 152286350-152286395, 152286444-152286448, 152286563, 152286654-152286661, 152286709-152286740, 152286813, 152286841-152286847, 152286867-152286901, 152286967-152286975, 152286982, 152286994-152287049, 152287175-152287198, 152287209-152287223, 152287840, 152287877-152287883, 152287886-152287890, 152287893
53GBA10.9966583124477941197155184920-155184923
54PKLR10.9965217391304361725155269946-155269950, 155269989
55NDUFS210.9942528735632281392161176367-161176374
56F510.9992509363295956675169510233, 169510380, 169510502, 169510515, 169510524
57DARS210.9994840041279711938173794487
58RNASEL10.9986522911051232226182545500, 182545506-182545507
59HMCN110.997870830376153616908185958691-185958692, 185964170, 185964178, 185970539-185970560, 185970816, 185976299, 185987447, 186082066-186082072
60CFH10.9975649350649493696196682982-196682990
61CFHR510.9994152046783611710196971664
62ASPM10.995207973931385010434197069907, 197070051, 197070887-197070891, 197070980, 197073928-197073932, 197074252-197074253, 197094064-197094085, 197112353-197112365
63PKP110.99266391563503162181201292203, 201292287, 201293686, 201294198, 201294204-201294205, 201294212-201294221
64TNNT210.998873873873871888201328782
65REN10.9926289926289991221204135409-204135417
66USH2A10.995835735793456515609215848072-215848086, 215914842-215914856, 215916537, 215916542-215916549, 215916591-215916592, 215916638, 216138769-216138775, 216363635-216363647, 216496816-216496817, 216496820
67PSEN210.97624350408315321347227071525, 227071577-227071606, 227073359
68ADCK310.99279835390947141944227149100, 227152826, 227152917-227152920, 227152926, 227152932, 227171797, 227171800, 227172261, 227174404, 227174414, 227174417
69GJC210.633333333333334841320228345460-228345469, 228345497, 228345503-228345505, 228345700-228345730, 228345747, 228345755, 228345762, 228345776-228345782, 228345899-228345915, 228345981, 228345986, 228346031-228346044, 228346054-228346103, 228346121, 228346133, 228346142-228346148, 228346160-228346163, 228346188, 228346237-228346248, 228346285-228346310, 228346317-228346355, 228346375-228346547, 228346553-228346575, 228346620, 228346648-228346680, 228346684, 228346711-228346724, 228346744-228346746, 228346771-228346777
70ACTA110.9920634920634991134229567921-229567923, 229568039-229568044
71GNPAT10.9980420949583942043231401838-231401839, 231401843-231401844
72LYST10.998334210064881911406235904766-235904769, 235938319-235938327, 235971916-235971921
73ACTN210.9996275605214212685236850023
74RYR210.997047772410094414904237632460-237632470, 237693755-237693764, 237729978-237729982, 237777747, 237821244, 237821247-237821254, 237863671-237863678
75FH10.98434442270059241533241672031-241672054
76NET1100.991066443327751617915454750-5454754, 5496912-5496922
77OPTN100.9913494809688615173413151246-13151259, 13174166
78PHYH100.999016715830881101713337588
79DCLRE1C100.9836459836459834207914951005-14951006, 14970015-14970030, 14970091-14970103, 14978589-14978591
80CUBN100.99641280353201391087216893394-16893400, 16911707, 16911711, 16941057, 16943455, 16945965-16945983, 16960632, 16979661, 17032439-17032445
81PTF1A100.99088145896657998723481751-23481754, 23481883, 23481938-23481941
82MYO3A100.999175427746864485126417435-26417438
83PDSS1100.9903846153846212124826994308, 27035384-27035394
84MASTL100.9749715585893166263727447482, 27450106-27450107, 27456082, 27459110-27459132, 27459508-27459522, 27459533, 27459868, 27459871-27459874, 27459996-27460006, 27470481-27470487
85RET100.9754857997010582334543572707-43572772, 43610007-43610013, 43617443-43617446, 43617449, 43619132-43619135
86ERCC6100.9950914770191922448250732347-50732355, 50732668, 50732673, 50738775, 50738783-50738787, 50740822, 50740841-50740843, 50740876
87CHAT100.998219848687144224750822409-50822411, 50822414
88PCDH15100.9921888266259146588955581784, 55581787, 55582627-55582632, 55587295, 55663039-55663040, 55839135-55839169
89KIAA1279100.99678456591646186670775547-70775552
90SLC29A3100.999299719887961142873082582
91CDH23100.977724741447892241005673439144-73439161, 73439197-73439206, 73439216, 73439219-73439221, 73439244-73439248, 73447404-73447414, 73447461, 73447472, 73455184, 73461796-73461811, 73462363-73462373, 73464668-73464690, 73464727-73464746, 73464756-73464782, 73464803-73464837, 73464880-73464887, 73472484-73472507, 73537657-73537658, 73569816-73569821, 73569825
92PSAP100.999365079365081157573580048
93MAT1A100.999158249158251118882049138
94LDB3100.95283882783883103218488451653-88451657, 88466313-88466331, 88466338, 88466454, 88476199-88476206, 88476218, 88476324-88476327, 88476332-88476334, 88476339, 88476347, 88476464-88476491, 88476502-88476528, 88477821-88477824
95BMPR1A100.998123827392123159988683136-88683138
96GLUD1100.9934406678592711167788836362-88836368, 88854422, 88854524-88854526
97PLCE1100.9985526125343810690996076318, 96076362, 96076365-96076372
98HPS1100.98100664767331402106100177373-100177387, 100177403, 100177409-100177423, 100189352, 100189358-100189364, 100189548
99CPN1100.96586782861293471377101802216, 101802277-101802322
100FBXW4100.9975786924939531239103372151-103372153
101HPS6100.9982817869415842328103825451-103825452, 103826229-103826230
102SUFU100.99175257731959121455104352403, 104352408-104352418
103CYP17A1100.96791093647675491527104590468, 104590519, 104590523, 104592358, 104592364, 104592795-104592807, 104593805-104593817, 104594745, 104594749-104594754, 104594757, 104595025-104595031, 104595079, 104596908, 104597078
104COL17A1100.9991099243435744494105816927-105816930
105SHOC2100.9954259576901181749112769136-112769143
106FGFR2100.9963459196102392463123246882-123246883, 123256207-123256212, 123258060
107HTRA1100.98683298683299191443124221198-124221200, 124221352-124221367
108OAT100.95606060606061581320126089446, 126089544-126089553, 126091599-126091624, 126097149, 126097189-126097206, 126097476, 126097534
109HRAS110.72280701754386158570532636-532643, 532663-532715, 532738, 533490-533494, 533599-533600, 533603-533612, 533766-533793, 533796-533802, 533814, 533818, 533892-533900, 533911, 533937-533942, 534227-534246, 534317-534322
110TALDO1110.797830374753452051014747487-747501, 747553-747557, 747563, 747572, 755879-755882, 760197, 760245, 763344-763371, 763380-763426, 763457-763477, 763482, 763747-763780, 763872-763899, 763909, 763925, 764332-764347
111SLC25A22110.50925925925926477972791917, 791930-791933, 791943-791949, 791960, 792027-792030, 792048-792068, 792142-792151, 792168-792217, 792305-792308, 792321-792372, 792395, 792398-792403, 792411, 792425-792458, 792557, 792571-792610, 792620-792727, 792870-792873, 792888-792902, 792911, 792929, 792937-792946, 792951-792952, 792967-792971, 793529-793531, 793550-793553, 793556-793559, 793596-793597, 794458-794460, 794463-794475, 794776-794795, 794860-794879, 794887-794901, 794987-794995, 795006
112PNPLA2110.765016501650163561515819720-819733, 819757-819905, 821642, 821649-821652, 821679, 821709-821715, 821720-821724, 821735-821737, 821742, 821823-821824, 822474-822475, 822478, 823527-823536, 823795, 823809, 823998-824042, 824055, 824060-824070, 824073, 824110-824130, 824322-824323, 824333-824334, 824338, 824352-824354, 824417-824436, 824523, 824645, 824654-824689, 824801, 824804-824806, 824809, 824812, 824828, 824861-824862
113CTSD110.7062146892655436412391774777-1774791, 1774831-1774833, 1774838-1774871, 1774882-1774900, 1775033-1775046, 1775101-1775126, 1775224-1775226, 1775232-1775246, 1775270-1775285, 1775305-1775330, 1775347-1775368, 1778576-1778621, 1778774, 1780199-1780210, 1780256, 1780288-1780317, 1780751-1780754, 1780811-1780812, 1782539-1782544, 1782609, 1785022-1785089
114TNNI2110.87978142076503665491861454-1861468, 1861647, 1861758-1861763, 1861794-1861814, 1861831-1861840, 1861845, 1862290-1862292, 1862343, 1862348, 1862358, 1862364, 1862367, 1862371, 1862393, 1862396, 1862402
115TNNT3110.19691119691126247771944109-1944113, 1944119, 1944289, 1944785-1944802, 1946329-1946346, 1947925-1947939, 1950350-1950366, 1951040-1951049, 1953699-1953744, 1954951-1955067, 1955161-1955238, 1955562-1955675, 1955776-1955783, 1955806, 1955810-1955842, 1955863-1955885, 1956059-1956081, 1956090-1956124, 1956134, 1956137-1956144, 1958193-1958200, 1958225-1958233, 1959668-1959694, 1959711-1959712, 1959717-1959722
116IGF2110.571026722925463057112154217-2154352, 2154354-2154381, 2154402-2154442, 2154771-2154775, 2154796-2154820, 2154836-2154838, 2154841-2154843, 2154860, 2154886-2154895, 2156639, 2156672-2156697, 2156705, 2156722-2156745, 2161508
117TH110.6653968253968352715752185475-2185476, 2185479-2185483, 2185499-2185518, 2185540-2185570, 2186473-2186476, 2186479-2186515, 2186524, 2186537, 2186558-2186584, 2186594-2186595, 2186904-2186906, 2186916-2186930, 2186952-2186967, 2187264-2187288, 2187710-2187726, 2187731-2187732, 2187745-2187779, 2187863-2187864, 2187873-2187890, 2187893, 2187938-2187998, 2188117-2188140, 2188175-2188206, 2188214-2188262, 2188665-2188694, 2189096-2189099, 2189122, 2189126, 2189155-2189163, 2189408-2189409, 2189734-2189737, 2189744, 2189801, 2190947, 2190951-2190952, 2190962, 2190965-2190966, 2190978-2190979, 2191015, 2191018, 2191027, 2191075, 2191081, 2191920-2191937, 2191943-2191955
118KCNQ1110.8040374199901539820312466329-2466350, 2466359-2466361, 2466366, 2466387-2466631, 2466641-2466645, 2466652-2466714, 2592555-2592558, 2593257, 2593262-2593282, 2604684-2604716
119CDKN1C110.282860147213466829512905234, 2905257-2905258, 2905261-2905263, 2905346-2905364, 2905900-2905918, 2905925-2906425, 2906443-2906444, 2906447-2906465, 2906486-2906522, 2906529, 2906532-2906533, 2906563-2906604, 2906637-2906663, 2906682, 2906693-2906694, 2906703, 2906707-2906709
120HBD110.9842342342342374445255652-5255658
121SMPD1110.99947257383966118966411935
122SBF2110.99729729729731555509812112, 9812118-9812125, 9812128-9812131, 9812228, 9867267
123ABCC8110.999578592498952474617498290, 17498306
124USH1C110.998888888888893270017517215-17517217
125LDHA110.962962962962963799918422480-18422511, 18425277, 18427064-18427067
126WT1110.9845559845559824155432417803-32417815, 32449507-32449510, 32456470-32456476
127PDHX110.998671978751662150634952956, 34952967
128SLC35C1110.994318181818186105645827836-45827838, 45827842, 45832734, 45832754
129PEX16110.90297790585975101104145935682-45935697, 45935955-45935957, 45935970, 45935984-45935985, 45935988, 45937065-45937074, 45937332-45937366, 45939254-45939286
130F2110.89245585874799201186946741284, 46741374, 46741377, 46742090, 46742383-46742390, 46744757, 46744932-46744936, 46745030, 46745060, 46747465, 46747482-46747483, 46747490, 46747496-46747500, 46747565, 46747570, 46747622-46747667, 46748054-46748098, 46748159-46748172, 46748279-46748306, 46749678-46749704, 46750216, 46750330, 46750933, 46751099-46751104, 46751108
131MADD110.998988673139165494447306504, 47307088-47307090, 47336849
132MYBPC3110.96522875816993133382547363696, 47367875-47367921, 47370002-47370013, 47370037, 47370045, 47370054, 47370070-47370076, 47371464-47371473, 47371605, 47371609-47371614, 47372116-47372150, 47372822-47372828, 47372919, 47372939, 47374186-47374187
133SLC39A13110.993727598566317111647435045, 47436427, 47436456-47436459, 47436598
134RAPSN110.996771589991934123947459598, 47460306, 47463248-47463249
135SDHAF2110.99800399201597150161213479
136ROM1110.991477272727279105662381294-62381300, 62381970, 62381975
137BSCL2110.997120230381574138962469940-62469941, 62469946, 62472876
138SLC22A12110.84717208182912254166264359098-64359101, 64359112-64359114, 64359137, 64359186, 64359418-64359421, 64359429-64359430, 64360259-64360277, 64360916-64360925, 64361180-64361189, 64361192, 64361195-64361197, 64361202-64361228, 64367148-64367187, 64367197-64367243, 64367254-64367294, 64367319-64367325, 64367342-64367343, 64367355, 64367361-64367362, 64367839-64367858, 64367862-64367863, 64368207-64368212, 64368965
139PYGM110.93119810201661174252964514441, 64521028-64521031, 64521038-64521040, 64521061-64521062, 64521065, 64521074-64521081, 64521093, 64521369, 64521380-64521383, 64521386-64521391, 64521458-64521494, 64521764-64521765, 64523011, 64525756-64525761, 64525801-64525818, 64525958, 64526076-64526093, 64526099, 64526140-64526156, 64526159, 64526166, 64526169-64526176, 64527131-64527160, 64527336, 64527340
140MEN1110.9572510822510879184864572070, 64572584-64572585, 64573194-64573236, 64573737-64573743, 64573799-64573822, 64577522-64577523
141EFEMP2110.993243243243249133265636078-65636086
142CST6110.99555555555556245065780336, 65780339
143BBS1110.9865319865319924178266278687-66278710
144SPTBN2110.97713648403736164717366460833-66460835, 66468006-66468022, 66468025, 66468133, 66468138, 66468262-66468268, 66468405-66468408, 66468445, 66468480-66468483, 66468643-66468650, 66468730-66468746, 66472263-66472280, 66472714-66472715, 66472748, 66472751, 66472761-66472766, 66473294-66473298, 66475126-66475129, 66475189, 66475243-66475260, 66475669-66475671, 66476487, 66478083, 66478441-66478455, 66478467-66478487, 66481787, 66481796, 66483372
145PC110.94995759117897177353766616462-66616473, 66617435, 66617920-66617926, 66618262, 66618538, 66618699, 66620099-66620130, 66620297-66620303, 66631322-66631330, 66631410-66631416, 66638666-66638668, 66638861, 66638902-66638939, 66639171-66639180, 66639207-66639228, 66639245, 66639294-66639297, 66639505-66639524
146CABP4110.993961352657582867223085-67223087, 67223187-67223188
147AIP110.3021148036253869399367254523, 67254554-67254566, 67254595-67254640, 67256790-67256867, 67256876-67256915, 67257511-67257513, 67257522-67257685, 67257787-67257928, 67258259-67258464
148NDUFS8110.7646129541864114963367799619-67799628, 67799635-67799676, 67799776-67799797, 67800390-67800394, 67800402-67800403, 67800422, 67800451-67800464, 67800668-67800685, 67800712-67800717, 67803734-67803736, 67803938, 67803941-67803960, 67804011-67804014, 67804017
149TCIRG1110.81147212194144470249367808815, 67808829, 67808852, 67809285-67809298, 67810142-67810146, 67810203-67810233, 67810254, 67810257-67810261, 67810310, 67810496-67810498, 67810932-67810964, 67811038-67811078, 67811319, 67811599-67811610, 67811643-67811674, 67811758, 67811761-67811768, 67811772-67811773, 67811785, 67811795-67811811, 67812525, 67812532, 67814984, 67815160-67815166, 67815351-67815358, 67816380, 67816393-67816396, 67816439-67816449, 67816548-67816584, 67816697-67816708, 67816721-67816747, 67817130-67817134, 67817167-67817192, 67817200-67817248, 67817480-67817486, 67817627-67817670, 67817989-67817991, 67818086-67818092, 67818096-67818099, 67818230, 67818275-67818277
150LRP5110.92677392739274355484868080183-68080270, 68131215, 68131254, 68131267-68131269, 68131294-68131328, 68131349-68131383, 68131392-68131398, 68171036, 68171042, 68174135-68174138, 68174141-68174142, 68183839, 68201295, 68204415-68204427, 68205976-68205995, 68207256-68207273, 68207326-68207331, 68207333, 68207353-68207379, 68213933-68213972, 68213978-68214001, 68216277-68216282, 68216329-68216336, 68216502-68216513
151CPT1A110.9866494401378131232268527732-68527745, 68542893-68542900, 68560820, 68560827-68560830, 68564327-68564330
152IGHMBP2110.86217303822938411298268671421-68671426, 68671429-68671501, 68673549-68673551, 68673561, 68673685-68673697, 68676074, 68678908-68678911, 68679034-68679060, 68682461-68682479, 68685204, 68685271, 68696660, 68696674, 68696688, 68696719-68696739, 68696771, 68700775, 68700781, 68700847-68700890, 68700912-68700949, 68701288-68701294, 68701347-68701349, 68701352-68701356, 68702823-68702826, 68702829, 68704046, 68704069-68704102, 68704117-68704152, 68704207, 68704274-68704275, 68704284, 68704526-68704538, 68707086-68707094, 68707132-68707167
153DHCR7110.9866946778711519142871146423, 71146533-71146536, 71146546-71146555, 71146566, 71146686, 71146691, 71146879
154KCNE3110.99679487179487131274168431
155MYO7A110.706377858002411952664876841681-76841695, 76853763-76853783, 76858890, 76858900-76858903, 76858918, 76858977, 76858983, 76868005-76868036, 76873245-76873274, 76873324-76873325, 76873328, 76883794-76883795, 76883828-76883831, 76883844-76883921, 76885802-76885812, 76885827-76885938, 76885957-76885960, 76886424-76886510, 76888595-76888689, 76890091-76890175, 76890781-76890999, 76891420-76891527, 76892426-76892635, 76892997-76893200, 76893469-76893645, 76894113-76894144, 76894150-76894187, 76895658, 76895668-76895672, 76895677-76895688, 76895720-76895735, 76900391, 76900402, 76900407-76900422, 76900430-76900437, 76901065-76901070, 76901086-76901123, 76901144-76901150, 76901160-76901184, 76901769-76901783, 76901817, 76901841-76901874, 76901882-76901915, 76903118-76903154, 76903195-76903208, 76903213-76903214, 76903221, 76903265-76903290, 76903316-76903323, 76908619-76908643, 76909603-76909610, 76910766, 76910772-76910784, 76913458-76913461, 76922313-76922329, 76922333
156ALG8110.999367488931061158177825027
157TYR110.998113207547173159088961068-88961070
158TRPC6110.9978540772532262796101359763-101359768
159DYNC2H1110.996137504828125012945102984351, 102984379-102984383, 102991503, 103018561, 103126931-103126941, 103128399-103128400, 103130668-103130690, 103173973-103173978
160ATM110.99073165412714859171108098381, 108098384, 108098614-108098615, 108114843-108114845, 108115675, 108119705-108119712, 108121757-108121759, 108122673, 108122685, 108124578, 108124585, 108143499, 108143504, 108160498-108160507, 108163476-108163479, 108178704, 108188140-108188161, 108190710, 108202275-108202284, 108204613-108204615, 108204657-108204659, 108218052, 108218055, 108218089-108218092
161RDX110.9948630136986391752110126064-110126069, 110143339-110143341
162DRD2110.9962462462462551332113283320-113283324
163APOA1110.988805970149259804116706797-116706805
164FXYD2110.993150684931513438117693143-117693145
165TECTA110.99102861562258586465120979922-120979925, 120984388-120984393, 120989080-120989107, 120989176-120989182, 120989306-120989312, 120989385-120989390
166KCNJ1110.98979591836735121176128709398, 128709826-128709833, 128709898, 128709911-128709912
167WNK1120.99233716475096101305977312, 978077-978085
168WNK1120.98727094698559917149862989, 980473-980490, 980509, 987427, 987434-987445, 989120-989125, 994199-994207, 994487, 994498-994513, 994635-994642, 994798-994815
169CACNA2D4120.989455184534273634141906624-1906630, 1994223-1994242, 2019074, 2022282-2022285, 2024020-2024023
170CACNA1C120.9812528577960712365612690842-2690848, 2692085, 2693768, 2694646, 2694650, 2706639-2706644, 2716189, 2716271-2716282, 2774103-2774125, 2791764-2791791, 2791824-2791844, 2794934-2794940, 2797891-2797902, 2800353, 2800357
171VWF120.98483771618112884426058296-6058305, 6058309, 6058967-6058986, 6059038, 6078485-6078491, 6103087-6103088, 6127535, 6127891, 6128064-6128087, 6131926-6131932, 6131955-6131982, 6132027-6132033, 6145570-6145573, 6166080-6166086, 6166209-6166214, 6166217, 6204729
172SCNN1A120.99908550525834221876464572-6464573
173TPI1120.92266666666667587506976835-6976845, 6979227-6979251, 6979457-6979478
174ATN1120.99860061572908535737047140-7047143, 7050592
175GYS2120.9862689393939429211221712045-21712064, 21712605-21712612, 21715963
176ABCC9120.998709677419356465022015986-22015988, 22025633-22025634, 22078878
177BCAT1120.99224806201559116124982823-24982831
178KRAS120.980701754385961157025368461-25368466, 25368476-25368477, 25380188-25380189, 25380288
179DNM1L120.9796472184531945221132866171-32866210, 32866237, 32866240, 32875364, 32875368, 32886732
180LRRK2120.9968354430379724758440687386-40687394, 40713873, 40745508-40745517, 40753197-40753200
181IRAK4120.999276934201011138344172098
182COL2A1120.9941756272401426446448377508-48377519, 48393806-48393813, 48393872-48393877
183MLL2120.9394486577585210061661449422625-49422631, 49422740-49422741, 49423004-49423019, 49424079-49424114, 49424140-49424167, 49424466-49424472, 49425208-49425209, 49425674-49425689, 49425840, 49425926, 49426105-49426109, 49426112-49426116, 49426176-49426179, 49426343-49426359, 49426481-49426485, 49426500, 49426517-49426521, 49426524-49426525, 49426564-49426607, 49426618-49426619, 49426630-49426631, 49426726-49426801, 49426856-49426865, 49426925-49426932, 49426935-49426951, 49427006-49427043, 49427066-49427071, 49427119-49427121, 49427132-49427140, 49427207-49427239, 49427263-49427294, 49427307-49427335, 49427442-49427450, 49427513-49427517, 49427571-49427572, 49427647-49427658, 49427877-49427888, 49427999-49428004, 49430919-49430920, 49430935, 49430971-49430979, 49431006-49431020, 49431023-49431027, 49431036, 49431148, 49431208-49431217, 49431220, 49431272-49431308, 49431372-49431390, 49431452-49431456, 49431508-49431531, 49431538-49431585, 49431631-49431635, 49431641, 49431677-49431730, 49431809, 49431906-49431910, 49431938-49431945, 49431948-49431965, 49431981-49431991, 49432047, 49432050, 49432082, 49432109-49432112, 49432145-49432146, 49432211, 49432499-49432525, 49432637-49432640, 49433005-49433006, 49433288, 49433307-49433321, 49433367-49433392, 49433630-49433633, 49433880-49433883, 49433944-49433945, 49433988-49433995, 49434034-49434070, 49434074, 49434097-49434116, 49434297-49434298, 49439850-49439851, 49440082-49440085, 49440200-49440201, 49440464-49440466, 49441758-49441765, 49442442-49442455, 49442506-49442519
184DHH120.999160369437451119149488043
185TUBA1A120.817982456140358345649522195-49522241, 49522269, 49522287, 49522386, 49522411, 49522445, 49522468, 49522470-49522475, 49522602-49522625
186AQP2120.97181372549022381650344614-50344635, 50349331
187KRT81120.9789196310935432151852682999-52683005, 52684032-52684055, 52684920
188KRT86120.9794661190965130146152696900-52696922, 52697949-52697955
189KRT6C120.999410029498531169552862951
190KRT2120.999479166666671192053045708
191AAAS120.9719683120048846164153703420-53703433, 53708103, 53708544-53708554, 53708565-53708567, 53709194-53709210
192SUOX120.99816849816853163856396435, 56396438-56396439
193MYO1A120.999680715197961313257431819
194CYP27B1120.999345121152591152758159896
195GNS120.9939722724532910165965116789, 65152979-65152987
196BBS10120.997697974217315217276741210-76741214
197CEP290120.9973118279569920744088443081-88443086, 88519057-88519066, 88520107, 88535056-88535057, 88535070
198TMPO120.9942446043165512208598926872, 98927261-98927271
199SYCP3120.99859353023911711102131621
200GNPTAB120.9994696367011423771102224424, 102224431
201MMAB120.998671978751661753109994916
202TRPV4120.937308868501531642616110230187, 110230489-110230491, 110230593-110230612, 110231353-110231355, 110231817-110231818, 110236434, 110236510-110236533, 110236550-110236554, 110236563-110236564, 110236570-110236587, 110236653-110236657, 110240832, 110240948, 110246101-110246105, 110246134-110246142, 110246147, 110246151, 110246159-110246170, 110246192-110246193, 110246204-110246236, 110246268, 110252223-110252235, 110252248
203ATXN2120.907661085743283643942111926387-111926393, 111957683-111957699, 111957756, 111991962, 112036598-112036682, 112036701-112036703, 112036715, 112036725, 112036740, 112036747-112036827, 112036897-112036929, 112036933-112036935, 112036956-112037042, 112037052-112037061, 112037114-112037120, 112037260-112037285
204SDS120.997973657548132987113835160, 113836336
205ACADS120.9959644874899151239121175712-121175716
206HNF1A120.99419831223629111896121416622, 121434351-121434359, 121438874
207HPD120.95600676818951521182122281697-122281699, 122286923-122286960, 122294513, 122294523-122294525, 122295243-122295249
208EIF2B1120.998910675381261918124115078
209PUS1120.99143302180685111284132414517-132414521, 132416814-132416818, 132426432
210SACS130.99541484716157631374023907507, 23908421-23908435, 23912875, 23913196-23913197, 23913806-23913837, 23914006-23914012, 23914900, 23915354-23915356, 23927985
211B3GALTL130.997995991983973149731774222-31774224
212BRCA2130.99288290923272731025732903612, 32903616-32903629, 32906526, 32910521-32910526, 32911080, 32911092-32911093, 32911105-32911110, 32911977-32911985, 32912530-32912539, 32912701-32912710, 32913640, 32914205-32914207, 32953930-32953935, 32954151-32954153
213SLC25A15130.99006622516556990641381447, 41382658-41382664, 41382711
214SUCLA2130.994252873563228139248528326, 48528332, 48528379-48528384
215RB1130.999641191245071278749027209
216EDNRB130.995485327313776132978472464-78472469
217ZIC2130.839274546591622571599100634391-100634407, 100634586-100634587, 100634590-100634598, 100635008-100635010, 100635060, 100635065-100635066, 100637293, 100637300-100637305, 100637347, 100637578, 100637619-100637648, 100637670-100637758, 100637805-100637873, 100637911-100637936
218PCCA130.9990855052583422187101101540, 101101557
219ERCC5130.999764095305514239103459952
220COL4A1130.99301397205589355010110959321-110959329, 110959349-110959374
221F7130.408988764044947891335113760156-113760219, 113765004-113765005, 113765009, 113765041-113765079, 113765117-113765137, 113765147-113765164, 113768166, 113768199-113768274, 113769974-113770051, 113770067-113770112, 113771080-113771118, 113771132, 113771154-113771157, 113771181, 113771184-113771189, 113771802-113771805, 113771808-113771853, 113771883, 113771896-113771910, 113772771-113772778, 113772786-113772798, 113772800, 113772803-113772834, 113772838, 113772841-113772845, 113772870-113772939, 113772949-113772982, 113773021-113773066, 113773083-113773088, 113773091-113773107, 113773115, 113773118-113773125, 113773135-113773136, 113773142-113773154, 113773162-113773177, 113773191, 113773200, 113773230-113773250, 113773293-113773322
222F10130.894342194955691551467113777170-113777179, 113777182-113777203, 113777217, 113777219-113777232, 113798250, 113798404-113798409, 113803295-113803327, 113803544-113803581, 113803661-113803662, 113803672-113803674, 113803678-113803680, 113803686, 113803691-113803709, 113803748, 113803822
223GRK1130.96926713947991521692114321781, 114321786-114321789, 114321798-114321803, 114322129, 114322243, 114324015-114324017, 114324034, 114325814-114325818, 114325872-114325884, 114325954-114325956, 114426047-114426053, 114426086-114426092
224TEP1140.998985286656528788420859226-20859228, 20859230-20859234
225RPGRIP1140.9989639989644386121795920, 21795923, 21796784, 21798515
226MYH6140.998797250859117582023862600-23862602, 23863308-23863310, 23869585
227NRL140.971988795518212071424550555, 24551814-24551816, 24551819-24551826, 24552016-24552018, 24552031-24552035
228TGM1140.997962510187455245424724259, 24724310, 24724424, 24727788-24727789
229FOXG1140.91904761904762119147029236766-29236853, 29236883-29236887, 29236898-29236907, 29236924, 29236927-29236941
230COCH140.998790078644892165331346881-31346882
231FANCM140.9969090613307319614745618108-45618121, 45623962-45623964, 45645859, 45669167
232C14orf104140.997613365155136251450092429-50092430, 50092433-50092435, 50101352
233ATL1140.9921780986762913166251057663-51057670, 51058286-51058290
234PYGL140.999606918238991254451398423
235GCH1140.984063745019921275355332046, 55332097-55332104, 55332136-55332138
236OTX2140.980984340044741789457268493-57268502, 57268784-57268790
237SYNE2140.995029917004441032072464430704, 64447728, 64447734, 64457173-64457179, 64488066-64488071, 64497845, 64497923-64497924, 64514835-64514858, 64519821, 64532183-64532186, 64542707-64542708, 64556358, 64557726-64557735, 64580227-64580232, 64580269-64580272, 64591797-64591805, 64595170-64595192
238ZFYVE26140.99986876640421762068242692
239EIF2B2140.995265151515155105675471587-75471591
240POMT2140.998668442077233225377746215-77746216, 77787001
241TTC8140.9877260981912119154889305851-89305852, 89305858-89305860, 89310171-89310184
242ATXN3140.9788213627992623108692559640-92559662
243AMN140.1358296622613811771362103389039-103389065, 103390048-103390074, 103390078, 103390098-103390105, 103390132-103390154, 103390282-103390288, 103390291-103390297, 103390303-103390316, 103394763-103394767, 103394777-103394850, 103395095-103395312, 103395458-103395595, 103395765-103395779, 103395799-103395814, 103395825-103395828, 103395841-103395873, 103395992, 103396007-103396019, 103396038-103396074, 103396261-103396423, 103396502-103396664, 103396743-103396781, 103396792-103396830, 103396913-103397017
244INF2140.485619293750105167703-105167711, 105167730-105167755, 105167782, 105167785, 105167810, 105167821-105167870, 105167880-105167950, 105167972-105167990, 105168016-105168047, 105168064, 105169455-105169495, 105169555-105169557, 105169645-105169651, 105169659, 105169705, 105169716-105169770, 105170253-105170259, 105170265, 105170281-105170283, 105172372-105172406, 105172425-105172465, 105172473, 105172482-105172494, 105172512, 105173247-105173260, 105173275-105173329, 105173354-105173365, 105173371, 105173590-105173591, 105173614-105173648, 105173672-105173834, 105173856-105174161, 105174168-105174174, 105174182-105174226, 105174247-105174260, 105174269, 105174299-105174309, 105174312-105174313, 105174320, 105174779-105174816, 105174836-105174838, 105174842-105174853, 105174890-105174891, 105175022, 105175026-105175028, 105175043-105175045, 105175054-105175055, 105176015-105176042, 105176433-105176456, 105176466-105176471, 105176481-105176487, 105176512-105176514, 105176521, 105177279-105177280, 105177294-105177310, 105177329-105177344, 105177438-105177461, 105177464-105177523, 105177966-105177973, 105177979-105178015, 105178819-105178876, 105179165-105179200, 105179219, 105179224, 105179257-105179302, 105179310-105179323, 105179544-105179549, 105179578, 105179590, 105179616-105179626, 105179633-105179646, 105179782-105179842, 105179853-105179868, 105179906-105179914, 105180540-105180553, 105180562-105180568, 105180606-105180629, 105180634, 105180681, 105180706, 105180726-105180733, 105180752-105180795, 105180840, 105180845, 105180884-105180891, 105180898, 105180963-105180983, 105180994-105181052, 105181100-105181145, 105181171, 105181621-105181632, 105181638-105181654
245NIPA1150.8161616161616218299023049094-23049097, 23086234-23086411
246IVD150.994535519125687128140702869-40702875
247CHST14150.9717064544650832113140763513-40763543, 40764539
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325ACADVL170.9994918699187119687127842
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481NPHP120.9955752212389492034110917704-110917712
482MERTK20.996123000112656323, 112656326, 112656334, 112740468-112740476
483GLI220.94496954421342624761121708827-121708868, 121708929-121708961, 121708983-121709021, 121712897, 121727995-121728029, 121728146-121728148, 121728157-121728175, 121729624-121729639, 121742307, 121746086-121746087, 121746139-121746174, 121746585, 121746588, 121747024-121747039, 121747379-121747391, 121747661, 121747717-121747718, 121748010
484BIN120.96015712682379711782127806129-127806140, 127808012-127808016, 127808031, 127808740, 127811560, 127811579-127811582, 127815075-127815089, 127815095-127815110, 127815120, 127819767-127819770, 127821554-127821560, 127828191-127828194
485PROC20.99711399711441386128186171-128186174
486CFC120.70089285714286201672131279058-131279071, 131279079-131279080, 131279621-131279646, 131279681, 131279688-131279689, 131280363-131280391, 131280448-131280469, 131280742-131280746, 131280759-131280785, 131280795-131280834, 131285269-131285276, 131285327-131285345, 131285396-131285399, 131285404, 131285409
487RAB3GAP120.99456890699253162946135888194, 135888197-135888198, 135888201-135888206, 135911422, 135926342-135926347
488LCT20.998789764868675784136558252, 136558377-136558379, 136569918-136569920
489MCM620.98702351987024322466136616936-136616942, 136626204-136626228
490NEB20.995143686792839719974152411553, 152421558-152421562, 152423757-152423762, 152432665-152432700, 152432725-152432745, 152432795, 152432824-152432832, 152432838, 152432858-152432868, 152521292, 152522915, 152527569, 152527572, 152531882, 152534279
491CACNB420.9993602047344811563152695823
492SCN2A20.99401794616152366018166172229, 166187922, 166187925-166187930, 166198887-166198899, 166201219-166201221, 166231463, 166237145-166237155
493GALNT320.96214511041009721902166611549, 166615335-166615337, 166621417-166621418, 166621429-166621439, 166621498-166621502, 166621563, 166626895-166626921, 166627070, 166627073-166627074, 166627100-166627109, 166627168-166627176
494SCN1A20.99749874937469155997166892788, 166908283-166908296
495SCN9A20.9998314796090315934167136978
496ABCB1120.9979828542612283966169873299-169873306
497SLC25A1220.9990181639666222037172725332-172725333
498CHRNA120.9963609898107751374175614853, 175618250, 175618253, 175619113, 175624101
499CHN120.9985507246376821380175816929-175816930
500HOXD1320.9990310077519411032176957828
501AGPS20.9959534648457381977178257605, 178333225-178333231
502PRKRA20.9851380042462814942179308040-179308048, 179308074-179308078
503DFNB5920.90934844192635961059179318219-179318227, 179318270-179318287, 179318301-179318326, 179319059-179319098, 179319197, 179325078-179325079
504TTN20.99814460138856186100248179417738, 179418734-179418740, 179435014-179435020, 179435141-179435142, 179437812-179437817, 179438146, 179438592-179438598, 179445207, 179447077, 179451916-179451919, 179457158-179457166, 179458470, 179458479-179458484, 179480174, 179485315-179485318, 179485965, 179497064-179497065, 179499231-179499245, 179500281, 179500747, 179505304-179505310, 179514892, 179514904, 179514908-179514911, 179514997-179514998, 179515502-179515520, 179523797-179523815, 179544686-179544688, 179544693-179544700, 179643737-179643739, 179644019, 179644035-179644044, 179644137-179644143, 179648858-179648876, 179648916-179648919
505CERKL20.916823014383991331599182468564-182468568, 182468574-182468580, 182468588-182468642, 182468649-182468655, 182468658-182468661, 182468682-182468712, 182468752-182468759, 182468791-182468806
506STAT120.9995561473590812253191859873
507HSPD120.97154471544715491722198351826-198351865, 198352626, 198352708-198352713, 198353177, 198353190
508ALS220.99758745476478124974202575721-202575732
509BMPR220.99133782483157273117203329609-203329621, 203332344, 203378459-203378460, 203378465-203378472, 203378525, 203420061, 203421252
510NDUFS120.98122710622711412184206991263, 206997669-206997685, 206997818-206997829, 207009696-207009697, 207018394-207018402
511FASTKD220.99531176746367102133207652848-207652857
512ACADL20.9860788863109181293211081174-211081177, 211081180-211081192, 211085451
513CPS120.99733510992672124503211459241, 211459257-211459267
514ABCA1220.99396507447355477788215854088-215854096, 215854153-215854161, 215854169-215854184, 215854187, 215854296-215854307
515PNKD20.98272884283247201158219204604, 219204777-219204781, 219204784-219204790, 219206257-219206263
516BCS1L20.9992063492063511260219527272
517DES20.9992922859164911413220283708
518OBSL120.99648567914251205691220435678, 220435683-220435684, 220435707-220435713, 220435774-220435780, 220435952-220435954
519SLC19A320.99329309188464101491228563528-228563537
520CHRND20.96010296010296621554233390937, 233393654-233393661, 233394660, 233396070, 233396075, 233396132-233396173, 233396344-233396350, 233398749
521COL6A320.99685336689742309534238244864-238244866, 238296793, 238296796, 238303257, 238303427, 238303491-238303494, 238303565, 238303576-238303577, 238303579, 238303603, 238303644-238303647, 238303656-238303661, 238305457-238305460
522AGXT20.888040712468191321179241808285-241808291, 241808346-241808353, 241808358-241808361, 241808373-241808379, 241808405-241808433, 241808587-241808597, 241808608-241808641, 241808655-241808666, 241808706, 241808710-241808723, 241810075, 241813478-241813479, 241815375-241815376
523D2HGDH20.931673052362711071566242674643-242674647, 242689590-242689602, 242689642-242689655, 242695336-242695337, 242695340, 242695346, 242707126-242707129, 242707205-242707211, 242707256-242707262, 242707294-242707346
524C20orf54200.99219858156028111410744536-744541, 745981, 745987-745990
525AVP200.90707070707071464953063334-3063359, 3063369-3063386, 3063634, 3063645
526PANK2200.985405720957382517133888645-3888648, 3891433-3891453
527PROKR2200.99826388888889211525282818-5282819
528JAG1200.9931637954607625365710653349-10653352, 10653405-10653406, 10653513-10653526, 10654158-10654162
529C20orf7200.9691714836223532103813782135-13782144, 13782222-13782237, 13782242, 13782276-13782278, 13797586-13797587
530SNTA1200.85441370223979221151832000166-32000174, 32000219, 32000222-32000232, 32000381-32000394, 32005562-32005566, 32031133-32031180, 32031187-32031217, 32031259, 32031262, 32031310-32031335, 32031351-32031424
531SAMHD1200.9920255183413115188135526296, 35545392-35545397, 35547880, 35559202-35559208
532HNF4A200.9635087719298252142543052658-43052662, 43052726-43052727, 43052765-43052803, 43052848-43052853
533ADA200.9761904761904826109243252895, 43252942, 43255200-43255208, 43257780-43257793, 43257800
534CTSA200.997995991983973149744520238-44520240
535CD40200.99880095923261183444757673
536SLC2A10200.998154981549823162645353879-45353881
537SALL4200.997153700189759316250401058, 50406958, 50407110-50407113, 50408346-50408348
538VAPB200.99863387978142173256993412
539GNAS200.955284552845533373857415179-57415197, 57415467-57415472, 57415604, 57415777-57415783
540GNAS200.981053307642959311457428437-57428446, 57428908-57428914, 57429061, 57429069-57429089, 57429644-57429647, 57429681-57429685, 57429699, 57429831-57429835, 57430376-57430380
541COL9A3200.65206812652068715205561448417-61448494, 61448924-61448956, 61448960, 61448970-61448987, 61449870-61449876, 61450574-61450597, 61450623-61450624, 61450628, 61451281-61451310, 61451321-61451328, 61452533-61452553, 61452859-61452872, 61453111, 61453115-61453117, 61453465, 61453476-61453516, 61453943, 61455800-61455838, 61456320-61456373, 61457169-61457194, 61457200, 61457556-61457566, 61457574-61457609, 61458162-61458172, 61458596, 61459298-61459325, 61460134-61460157, 61460275-61460316, 61460827-61460833, 61461003-61461019, 61461712-61461750, 61461869-61461903, 61461933-61461940, 61463514, 61464372-61464377, 61464410, 61464416, 61468561-61468571, 61468574-61468576, 61472055-61472083
542CHRNA4200.123673036093421651188461978090-61978215, 61981005-61981051, 61981065-61981073, 61981117-61981124, 61981127-61981225, 61981235-61981450, 61981468-61981499, 61981508-61981571, 61981578-61981728, 61981746, 61981749-61981755, 61981761, 61981765, 61981783-61981807, 61981827-61981903, 61981915-61982133, 61982141-61982167, 61982183-61982220, 61982238-61982250, 61982273-61982379, 61987327-61987436, 61987723-61987767, 61990900-61991051, 61992442-61992517
543KCNQ2200.459717449408171415261962037997-62038062, 62038079-62038106, 62038154-62038155, 62038164, 62038197-62038212, 62038242-62038286, 62038292-62038328, 62038344-62038398, 62038408-62038424, 62038470-62038501, 62038509-62038537, 62038551-62038583, 62038609-62038613, 62038675-62038702, 62039766-62039767, 62039772, 62039785-62039792, 62044816-62044858, 62046263-62046282, 62046309-62046352, 62046413-62046418, 62059720-62059729, 62059738-62059772, 62059788, 62065165, 62065187-62065193, 62065196-62065203, 62065248-62065256, 62069988, 62070050-62070051, 62070951-62070979, 62070987-62070990, 62071022-62071046, 62071059-62071061, 62073759-62073871, 62073880-62073884, 62076013-62076115, 62076124-62076187, 62076592-62076616, 62076624-62076717, 62078105-62078166, 62103521-62103816
544SOX18200.44935064935065636115562679533-62679565, 62679665-62679686, 62679751-62679763, 62679766-62679772, 62679890-62679892, 62679902, 62679931-62679968, 62679979-62680002, 62680048-62680052, 62680055-62680116, 62680119, 62680122, 62680152-62680175, 62680196-62680219, 62680243-62680260, 62680302, 62680307, 62680512-62680869
545BACH1210.998190863862514221130715124-30715127
546IFNGR2210.9319526627218969101434775850-34775862, 34775864, 34775875-34775922, 34799312-34799317, 34799324
547KCNE2210.98118279569892737235742832-35742838
548CLDN14210.945833333333333972037833283-37833285, 37833480-37833481, 37833585-37833589, 37833812-37833840
549TMPRSS3210.9787545787545829136543803232-43803235, 43805539, 43805559, 43805621-43805643
550CBS210.9836956521739127165644478944, 44478975-44478981, 44479363-44479366, 44484024-44484038
551AIRE210.217338217338221282163845705890, 45705902-45705941, 45705949-45706009, 45706016-45706019, 45706440-45706462, 45706465, 45706482-45706574, 45706581-45706614, 45706861-45706969, 45706972-45706994, 45706998, 45707005-45707007, 45707013-45707016, 45707400-45707417, 45708228-45708306, 45708317-45708341, 45709574-45709575, 45709596-45709598, 45709607-45709621, 45709624-45709644, 45709647-45709674, 45709682-45709685, 45709871-45709935, 45709942-45709951, 45710978-45711042, 45711091-45711093, 45712185-45712217, 45712229, 45712241-45712247, 45712271-45712284, 45712876-45712878, 45712898-45712917, 45712921, 45712946-45713058, 45713677-45713793, 45714284-45714386, 45716266-45716328, 45717539-45717610
552ITGB2210.9666666666666777231046308608-46308633, 46308641-46308678, 46309407, 46309931-46309935, 46309938-46309940, 46311813-46311814, 46320339, 46320342
553COL18A1210.713390313390311509526546875468-46875481, 46875830-46875840, 46876173-46876174, 46876218-46876252, 46876306, 46876503-46876540, 46876559, 46876575-46876577, 46876580, 46876583, 46876586, 46876611-46876627, 46876709, 46876762-46876782, 46888178-46888195, 46888288-46888321, 46888452-46888453, 46888530, 46888565-46888570, 46895393, 46896340, 46896347-46896360, 46897328, 46897723-46897725, 46897873-46897879, 46899827-46899863, 46899984, 46899993, 46900416, 46900669-46900675, 46900765-46900772, 46906775-46906799, 46906807-46906820, 46906868, 46906872-46906883, 46907361-46907375, 46907378, 46907404-46907405, 46908347-46908358, 46909406-46909435, 46910189-46910260, 46910750-46910785, 46911139-46911228, 46912449-46912478, 46912607, 46912623-46912627, 46913077-46913083, 46913123-46913139, 46913415-46913489, 46914459-46914485, 46914776-46914809, 46914813-46914814, 46914823-46914829, 46915272-46915346, 46916414-46916482, 46916964-46916983, 46916999-46917006, 46917513-46917529, 46917539, 46917552-46917575, 46923925-46923968, 46924342-46924344, 46924351-46924357, 46924360-46924365, 46924372, 46924386-46924452, 46924466-46924470, 46925048-46925083, 46925098-46925192, 46925281, 46925286-46925310, 46925313, 46925325, 46925752-46925799, 46925808-46925871, 46927475-46927506, 46929311, 46929374-46929380, 46929996-46929998, 46930017, 46931025-46931053, 46931075, 46931079, 46931088, 46931091-46931093, 46931097, 46931100, 46932186, 46932201-46932202, 46932225, 46932229
554COL6A1210.74408811143505790308747401765-47401861, 47402548-47402677, 47404183-47404188, 47404214-47404215, 47404236-47404383, 47406486, 47406489-47406500, 47406525-47406532, 47406586-47406596, 47406871-47406902, 47406913-47406943, 47407069-47407089, 47407413-47407432, 47407524-47407568, 47409000-47409010, 47409557-47409566, 47409689-47409692, 47410292-47410298, 47410306-47410312, 47410326-47410335, 47410687-47410703, 47410929-47410934, 47411924-47411957, 47412086-47412091, 47412662-47412667, 47414081-47414120, 47417337-47417338, 47417349-47417352, 47417669-47417676, 47418064-47418085, 47418814, 47419067-47419077, 47419086, 47419117, 47419122, 47419126, 47419130-47419131, 47420673-47420681, 47422134-47422137, 47423509
555COL6A2210.536274509803921419306047531402-47531409, 47531415, 47531428-47531499, 47531911, 47531917, 47531926, 47532033, 47532075, 47532079, 47532288-47532289, 47532313, 47532385, 47532452-47532454, 47532718-47532722, 47533941, 47533974, 47533987, 47535786-47535803, 47535941-47535957, 47536303-47536317, 47536565-47536574, 47536591, 47536684-47536691, 47536703, 47536706-47536709, 47536717-47536719, 47537314-47537315, 47537322-47537367, 47537788-47537792, 47537795-47537798, 47537815-47537816, 47537820, 47537824-47537835, 47538528-47538542, 47538558, 47538561-47538587, 47538944-47538957, 47538960, 47539007, 47539702-47539764, 47540429-47540491, 47540975-47540982, 47540995, 47541004, 47541007-47541010, 47541018, 47541026-47541028, 47541037, 47541474-47541515, 47542022-47542055, 47542410-47542424, 47542789-47542794, 47542807-47542851, 47544599-47544602, 47544606-47544609, 47544799-47544802, 47544816-47544819, 47545180-47545201, 47545221-47545225, 47545409, 47545419, 47545430-47545444, 47545451, 47545474-47545524, 47545699-47545710, 47545721, 47545725, 47545729, 47545750-47545790, 47545819-47545837, 47545858-47545873, 47545911-47545920, 47545928-47545930, 47545933-47545934, 47545951-47546014, 47546022-47546027, 47546041, 47546051-47546148, 47546417-47546455, 47551871-47551874, 47551877, 47551901-47551933, 47551954-47552017, 47552038, 47552057-47552089, 47552107-47552202, 47552215-47552264, 47552278-47552343, 47552362, 47552365, 47552392-47552406, 47552436-47552466
556COL6A2210.3362573099415222734247552183-47552202, 47552215-47552264, 47552278-47552343, 47552362, 47552365, 47552392-47552406, 47552436-47552490, 47552498-47552514, 47552523-47552524
557FTCD210.0774907749077491500162647556901-47556916, 47556922-47556923, 47556940-47556987, 47557153-47557237, 47557245-47557248, 47558422-47558436, 47558441, 47558460-47558463, 47558470-47558528, 47558552, 47558556-47558560, 47558794-47558812, 47558821-47558837, 47565331-47565492, 47565732-47565861, 47566180-47566241, 47570033-47570164, 47570302-47570394, 47570407-47570439, 47571472-47571651, 47571806-47571894, 47572823, 47572833-47572949, 47574063-47574246, 47575384-47575424
558PCNT210.99500549395665501001147766886-47766889, 47783395-47783398, 47786674-47786678, 47801724-47801743, 47817200, 47848348-47848363
559PRODH220.77093732667776413180318900750, 18900786-18900815, 18901004, 18904410-18904430, 18905870-18905881, 18906985-18906991, 18907266-18907268, 18908875, 18908915-18908926, 18910631-18910650, 18910679, 18912678-18912680, 18912684, 18912704-18912713, 18913213, 18918506, 18918533-18918543, 18918546, 18918555, 18918598, 18918655-18918677, 18918697-18918711, 18923528-18923576, 18923596-18923620, 18923632-18923645, 18923650-18923780, 18923784-18923800
560GP1BB220.1046698872785855662119711093-19711102, 19711377-19711381, 19711391-19711394, 19711401-19711463, 19711467-19711484, 19711493-19711923, 19711938, 19711941-19711943, 19711951-19711971
561TBX1220.74395161290323381148819747167-19747182, 19747198-19747200, 19748428-19748599, 19748616-19748622, 19748664-19748691, 19753311-19753312, 19753426-19753430, 19753449-19753468, 19753480-19753519, 19753912-19753916, 19753919-19753921, 19753937-19753948, 19753971-19753998, 19754090-19754092, 19754176, 19754297-19754331, 19754354
562SMARCB1220.9697754749568235115824129435, 24134050-24134067, 24175822-24175834, 24176332-24176334
563CHEK2220.84724588302101269176129083889-29083917, 29083946-29083965, 29085135-29085176, 29090027-29090057, 29091176, 29091737-29091743, 29115396-29115463, 29120965, 29121274-29121291, 29121353-29121354, 29126428-29126473, 29130481, 29130488, 29130498, 29130503
564TCN2220.9890965732087214128431006860, 31011588, 31011592, 31022454-31022464
565DRG1220.999094202898551110431796672
566MYH9220.992520822709544588336688081-36688100, 36689421-36689423, 36694965-36694970, 36697695-36697701, 36700129, 36700135, 36700164, 36701979, 36708117, 36710271-36710273
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638BBS740.9995344506517712148122749424
639BBS1240.995780590717392133123664066-123664074
640MFSD840.97109826589595451557128859938-128859969, 128859987-128859993, 128861030, 128861146-128861148, 128861151-128861152
641MMAA40.9992044550517111257146560679
642FGB40.9993224932249311476155488915
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644GLRB40.9986613119143221494158041759, 158041781
645GK40.9957882069795471662166199342-166199348
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647SLC6A1950.36377952755906121219051201766-1201805, 1201812-1201967, 1208861-1208938, 1208951-1209001, 1210559-1210568, 1210580-1210657, 1210670, 1210680-1210696, 1212418-1212420, 1212433-1212524, 1212545-1212576, 1212583, 1212587-1212594, 1212597-1212599, 1213578-1213648, 1213661-1213683, 1214068-1214137, 1214155-1214177, 1216673-1216693, 1216771-1216796, 1216799-1216801, 1216904-1216931, 1216961-1217020, 1217037-1217060, 1219018-1219077, 1219086, 1219101-1219142, 1219178-1219179, 1219191, 1219196-1219197, 1219620-1219753, 1219766, 1219769, 1221286, 1221367-1221369, 1221817, 1221835, 1221862, 1221912-1221925, 1221971-1221990, 1222012-1222019
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649SLC6A350.8609769189479325918631403189, 1406314, 1406328-1406335, 1406364-1406388, 1409145, 1409156-1409174, 1409230-1409233, 1409864, 1409896-1409964, 1411393, 1411412-1411413, 1411417-1411418, 1414806-1414808, 1414827, 1414831, 1414850, 1414863-1414866, 1414889, 1420684-1420688, 1420722, 1420728-1420739, 1420795-1420818, 1422007-1422008, 1422025-1422033, 1422048-1422093, 1422116-1422129, 1443199
650DNAH550.99538738738739641387513868062-13868069, 13868100-13868101, 13901653, 13916457-13916488, 13916507-13916527
651SLC45A250.998116760828633159333963889-33963891
652AMACR50.985204525674517114933989313, 33989319, 34004733-34004738, 34004832-34004839, 34005992
653NIPBL50.9919191919191968841536995726, 36995730, 36995738-36995741, 37006600, 37006627, 37024701, 37036481-37036487, 37036564-37036589, 37044565, 37046251-37046252, 37048648-37048664, 37052658-37052662, 37057380
654GHR50.9655712050078266191742629140-42629205
655ERCC850.9764903442485328119160170442-60170447, 60186775, 60186819, 60199489-60199495, 60200644-60200652, 60200685, 60200688-60200689, 60214107
656SMN250.9954802259887488569362949, 69372391-69372393
657SMN250.9954802259887488570238373, 70247811-70247813
658MCCC250.995862884160767169270922528-70922534
659HEXB50.995212447636158167173985276-73985283
660AP3B150.999695585996961328577471469
661VCAN50.99872436463546131019182834977-82834987, 82836568-82836569
662RASA150.9907760814249429314486633807, 86670022-86670024, 86670033-86670057
663MEF2C50.999296765119551142288057021
664GPR9850.99926008139105141892189971143-89971146, 89971962-89971963, 89981811-89981812, 89985783-89985784, 90052289-90052290, 90052293, 90052298
665PCSK150.9933687002652515226295730627-95730635, 95746606-95746607, 95764926-95764929
666WDR3650.9971988795518282856110440487, 110454761-110454767
667APC50.99871073605251118532112174032, 112174184-112174187, 112175120, 112175667-112175671
668LMNB150.9778534923339391761126113207, 126113210, 126113289-126113295, 126113462-126113477, 126154738, 126158527-126158539
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670SLC22A550.98984468339307171674131706016-131706032
671MYOT50.98329993319973251497137221862-137221874, 137222991-137223002
672SIL150.99855699855721386138286925-138286926
673MATR350.9964622641509492544138653384-138653386, 138658474-138658476, 138658486-138658488
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675PPP2R2B50.99099099099099121332146077609-146077617, 146077705-146077707
676SPINK550.9996955859969613285147499670
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678GABRG250.9967700258397951548161495059-161495063
679MSX250.991293532338317804174151705-174151711
680NSD150.9996292176492438091176562802-176562804
681F1250.9707903780068717582176830262-176830265, 176830314-176830326
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683NHP250.9783549783549810462177580663-177580672
684GRM650.98861047835991302634178408665-178408672, 178409928-178409930, 178413343-178413348, 178413454-178413457, 178413570-178413576, 178413938, 178413947
685SQSTM150.854875283446711921323179247937-179247967, 179247998-179248125, 179248135-179248141, 179250032-179250034, 179250039-179250041, 179250932-179250947, 179250979-179250980, 179260110-179260111
686FLT450.2429130009775230984092180038368, 180038373-180038385, 180038391-180038397, 180038472, 180040061-180040084, 180041117-180041126, 180043374-180043417, 180043421, 180043442-180043489, 180043900-180043907, 180043923, 180043938-180043994, 180045770-180045920, 180046021-180046109, 180046253-180046366, 180046665-180046769, 180047173-180047308, 180047609-180047715, 180047876-180048007, 180048106-180048252, 180048542-180048672, 180048713, 180048716-180048750, 180048767-180048775, 180048782-180048798, 180048809-180048857, 180048882-180048904, 180049731-180049839, 180050935-180051061, 180052869-180053031, 180053111-180053265, 180055882-180055999, 180056259-180056427, 180056696-180056835, 180056943-180057105, 180057225-180057337, 180057555-180057799, 180058682-180058778, 180076498-180076531, 180076542-180076545
687FOXC160.964500601684725916621610717-1610720, 1610762-1610763, 1610830-1610833, 1610870, 1611342-1611346, 1611403-1611408, 1611454-1611468, 1611496, 1611499-1611500, 1611706, 1611800-1611814, 1612018-1612020
688TUBB2B60.9177877428998511013383225010, 3225015, 3225044-3225052, 3225331-3225344, 3225434-3225460, 3225482, 3225543, 3225711-3225724, 3225897-3225937, 3226428
689DSP60.99988393686165186167568790
690ATXN160.9926470588235318244816327862, 16327876, 16327879, 16327888, 16327891-16327897, 16327903, 16327907-16327909, 16327915, 16327921, 16327927
691ZFP5760.9906890130353815161129640312, 29640315-29640324, 29640599-29640602
692HLA-H60.9245775029855789-29855823, 29856593-29856614
693NEU160.9871794871794916124831827559, 31828023-31828025, 31829031, 31829123, 31829129, 31829776-31829782, 31829812, 31829815
694CFB60.999736911339121380131916243
695TNXB60.93416277864178127192931976896-31976929, 31977388-31977395, 31977994-31978001, 31978221, 31978354, 31978498-31978535, 31979447-31979482, 31979630
696CYP21A260.88508064516129171148832006200-32006246, 32006317, 32006337, 32006886, 32006915-32006930, 32006956-32006998, 32007576-32007596, 32007782-32007793, 32007862-32007890
697TNXB60.976038966140313051272932009631-32009664, 32010123-32010130, 32010728-32010735, 32011225-32011269, 32011545-32011549, 32012301-32012336, 32012477, 32014015, 32014022-32014027, 32014035, 32023643-32023657, 32024520-32024526, 32024581-32024591, 32025932-32025948, 32026074-32026076, 32026081, 32026085-32026089, 32029212-32029231, 32029291-32029311, 32029415, 32029425, 32032760-32032764, 32032824-32032826, 32035493, 32035610-32035612, 32035616, 32035751-32035758, 32036172, 32036340, 32036475-32036484, 32036622-32036626, 32036827-32036832, 32037498-32037506, 32053848, 32056627-32056628, 32057086, 32064993
698HLA-DQA160.950520833333333876832609130, 32609142, 32609150, 32609181, 32609962-32609968, 32610387-32610407, 32610461, 32610478, 32610481, 32610487, 32610495, 32610513
699HLA-DQB160.858778625954211178632629124-32629173, 32629224-32629234, 32629809, 32629853, 32629955, 32632575-32632617, 32632680, 32632687, 32632744, 32632820
700SYNGAP160.9804067460317579403233388042-33388108, 33393628-33393639
701RPS1060.979919678714861049834392525-34392529, 34392870-34392874
702FANCE60.997517070142774161135423639, 35423926, 35423949, 35423953
703TULP160.9656230816451856162935479574, 35479957-35480009, 35480416-35480417
704MOCS160.77760334903192425191139876836, 39876855, 39876860-39876864, 39893422-39893589, 39895068-39895317
705PRPH260.9846301633045116104142666164, 42672167-42672181
706RSPH960.8724428399518710683143612845-43612856, 43612860, 43612867, 43612876, 43612900-43612914, 43612922-43612975, 43612985-43612990, 43612993, 43612996, 43613004, 43613007, 43638526-43638534, 43638538, 43638545, 43638643
707RUNX260.998084291187743156645390503-45390505
708CD2AP60.999479166666671192047591922
709MUT60.9893475366178424225349409565-49409588
710EFHC160.998959958398342192352303102-52303103
711EYS60.9988341282458911943564694354, 65016974-65016975, 65149181-65149188
712LMBRD160.9876771410967320162370462162-70462181
713RIMS160.9903524315810249507972952020-72952022, 72952083-72952087, 72975189-72975197, 73000496-73000514, 73001680, 73023209-73023217, 73023220-73023222
714SLC17A560.9879032258064518148874304886, 74345122-74345138
715MYO660.9924831518921729385876589586-76589613, 76596636
716BCKDHB60.99915182357931117980877395
717PDSS260.99166666666667101200107533319, 107533472-107533479, 107780273
718SEC6360.98992553657468232283108215058-108215059, 108218927-108218928, 108222720, 108279190-108279207
719OSTM160.991044776119491005108395479-108395480, 108395483-108395485, 108395591, 108395710, 108395749, 108395828
720FIG460.98568281938326392724110048344-110048368, 110048417, 110048430, 110048440, 110106173-110106183
721WISP360.9991063449508511119112390689
722RSPH4A60.9976754997675552151116943931-116943935
723PLN60.99371069182391159118880194
724GJA160.9939077458659771149121768922-121768928
725LAMA260.9997863932500329363129704279, 129712744
726ENPP160.98704103671706362778132168916-132168929, 132203550-132203571
727EYA460.9958333333333381920133833887-133833890, 133834147-133834150
728AHI160.9983291562238963591135754193, 135759632-135759636
729PEX760.998971193415641972137147497
730PEX360.998217468805721122143780235, 143793395
731EPM2A60.9598393574297240996145956439-145956452, 145956514-145956534, 145956618-145956622
732IYD60.9839080459770114870150690311-150690319, 150690322-150690326
733SYNE160.997840418276885726394152536044-152536052, 152545777-152545799, 152642436, 152725378, 152728163-152728164, 152728201, 152728318, 152730809-152730810, 152746588, 152751273, 152757076-152757087, 152783891, 152783997, 152832238
734TBP60.9980392156862721020170871049, 170871073
735LFNG70.1701754385964994611402559496-2559927, 2564329-2564350, 2564376-2564377, 2564853-2564858, 2564882-2564894, 2564913-2564952, 2565053-2565146, 2565170-2565176, 2565186, 2565197-2565201, 2565319-2565320, 2565335-2565404, 2565878-2565892, 2565898-2565930, 2565940-2565977, 2565984-2565994, 2566014-2566033, 2566470-2566505, 2566524-2566555, 2566780-2566846
736PMS270.9258400926998819225896013103, 6013152, 6018306-6018327, 6026633-6026639, 6026828-6026829, 6026836-6026837, 6026840-6026841, 6026878, 6026891, 6026982-6026991, 6027013-6027041, 6027106-6027120, 6027248, 6029454-6029462, 6029563-6029573, 6042087-6042114, 6042129, 6042132, 6042192-6042203, 6042209-6042211, 6043392-6043423, 6048635
737TWIST170.911330049261085460919156562-19156564, 19156815-19156817, 19156830, 19156844-19156873, 19156908-19156924
738HOXA170.997023809523813100827135317-27135319
739HOXA1370.80548414738646227116727239204-27239230, 27239263, 27239274, 27239299-27239301, 27239319-27239348, 27239366-27239390, 27239402-27239416, 27239438-27239453, 27239461-27239472, 27239477-27239493, 27239498-27239577
740GARS70.99909909909912222030649303, 30671901
741RP970.9984984984985166633134883
742PGAM270.99868766404199176244102423
743GCK70.962169878658153140144185223-44185226, 44186063-44186093, 44186105, 44186123-44186134, 44187274, 44190645-44190647, 44193007
744CCM270.69288389513109410133545039933-45039962, 45103527, 45112325-45112336, 45113059-45113066, 45113077-45113159, 45113165-45113170, 45113869-45113945, 45113955-45113997, 45115376-45115457, 45115472-45115479, 45115574-45115609, 45115633-45115656
745DDC70.9972279972284144350571691-50571694
746EGFR70.998348472336916363355220299-55220304
747GUSB70.91513292433538166195665429444-65429445, 65432735, 65432742-65432743, 65435282-65435290, 65439294, 65439362-65439404, 65439548-65439549, 65439556, 65439568-65439584, 65439658-65439691, 65439952-65440000, 65440025, 65440055, 65441003, 65441165, 65445357
748ASL70.52759856630824659139565546827-65546845, 65546882-65546884, 65546890, 65546935, 65546938-65546941, 65546967-65546984, 65547384-65547421, 65547435-65547438, 65547867-65547906, 65547922-65547923, 65548064-65548071, 65548120, 65548157, 65551574, 65551587-65551594, 65551600-65551646, 65551731-65551748, 65551794-65551796, 65551799, 65551803, 65552356-65552366, 65552370, 65552716-65552730, 65552759, 65553818-65553861, 65553885-65553894, 65554086-65554091, 65554102, 65554112-65554113, 65554116-65554162, 65554268-65554302, 65554599-65554651, 65554657-65554682, 65556993-65557041, 65557054-65557061, 65557544-65557551, 65557557, 65557563, 65557566, 65557612-65557650, 65557755, 65557771-65557796, 65557822-65557846, 65557862-65557890
749KCTD770.986206896551721287066094170-66094181
750SBDS70.974767596281541975366453358-66453367, 66453375-66453382, 66453427
751NCF170.8363636363636413582572639750, 72639957-72639989, 72640033-72640041, 72641444-72641456, 72643621-72643661, 72643678-72643710, 72644258, 72645927, 72648676, 72648744-72648745
752ELN70.92275862068966168217573442526, 73442539, 73442551-73442592, 73442599, 73457004-73457008, 73462509, 73462845-73462851, 73466140-73466169, 73466275-73466313, 73467493-73467503, 73467508, 73467585-73467608, 73471994, 73474706-73474709
753NCF170.91048593350384105117374191613-74191620, 74193432, 74193665-74193682, 74195126-74195138, 74197302-74197342, 74197372, 74197375, 74197378, 74197388-74197390, 74199610, 74202356, 74202376, 74202424, 74202429, 74202904, 74202907, 74202929, 74202933, 74202981, 74203386, 74203437-74203443
754POR70.450807635829661122204375608769-75608793, 75609663, 75609666, 75609698-75609705, 75609715-75609790, 75610370-75610393, 75610476-75610480, 75610486, 75610839, 75610843-75610846, 75610872, 75610903-75610906, 75611552, 75611603-75611634, 75612838-75612890, 75612934-75612937, 75612940, 75613056-75613100, 75613131-75613135, 75613139-75613140, 75613152, 75613160-75613174, 75614095-75614110, 75614119, 75614129-75614237, 75614246-75614248, 75614251-75614276, 75614376-75614450, 75614459-75614525, 75614897-75614904, 75614922-75614957, 75614963-75615061, 75615076-75615078, 75615084-75615167, 75615241-75615299, 75615338-75615339, 75615345, 75615369-75615386, 75615477-75615510, 75615534-75615559, 75615655-75615799
755HSPB170.99352750809061461875932071, 75932076, 75932086, 75932169
756ABCB470.998958333333334384087051456, 87051459, 87074180, 87074183
757AKAP970.99360286591607751172491603146-91603171, 91603207, 91630222-91630261, 91667859, 91712783-91712787, 91712790-91712791
758COL1A270.998536942209226410194056320-94056325
759SGCE70.997787610619473135694257574-94257576
760TFR270.99418121363259142406100238602-100238615
761SLC26A570.9968680089485572235103029492-103029497, 103030935
762RELN70.99942179820757610377103194241-103194244, 103270622-103270623
763SLC26A470.9987195902688932343107338539-107338541
764DLD70.9986928104575221530107556041, 107556091
765MET70.9990414569853844173116436115-116436118
766CFTR70.967589466576641444443117188713-117188753, 117188760-117188800, 117188847-117188877, 117199660-117199661, 117235013-117235015, 117235018-117235041, 117235045-117235046
767IMPDH170.96333333333333661800128045864, 128045867-128045868, 128045915-128045919, 128049821-128049868, 128049917, 128049947-128049955
768FLNC70.979212521398881708178128470693, 128470699-128470700, 128470751-128470754, 128470830-128470849, 128470901-128470931, 128471014-128471021, 128471026-128471027, 128471037-128471043, 128475380-128475386, 128477268-128477285, 128477501-128477515, 128477558-128477571, 128477696-128477701, 128481282, 128481326-128481347, 128498187-128498193, 128498412, 128498501-128498503, 128498506
769ATP6V0A470.957590170432031072523138394427-138394431, 138437384, 138437390, 138437393-138437404, 138437439-138437485, 138440441-138440465, 138441249-138441258, 138441280-138441285
770BRAF70.99348109517601152301140624406-140624414, 140624420, 140624423-140624427
771CNTNAP270.99499499499499203996145814011-145814029, 146536820
772KCNH270.97528735632184863480150649858-150649860, 150671849, 150671852, 150671868, 150671873-150671876, 150671973, 150671982-150671987, 150674933-150675001
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774MNX170.623548922056384541206156798256-156798262, 156798277-156798284, 156798352, 156798356, 156798407-156798424, 156798440, 156799258-156799268, 156802401-156802405, 156802527-156802530, 156802546, 156802610-156802612, 156802633-156803023, 156803040-156803042
775MCPH180.9988038277512325086264189-6264190, 6303025
776GATA480.999247554552291132911566008
777CHRNA280.996855345911955159027320622-27320625, 27320762
778FGFR180.9959399106780310246338274874-38274883
779ANK180.999824376536711569441552242
780HGSNAT80.983228511530432190842995669-42995672, 42995675-42995677, 42995689, 42995704, 42995735-42995757
781RP180.998763715036328647155537518-55537525
782CHD780.9911051812319380899461734374-61734394, 61734585-61734628, 61778450-61778464
783TTPA80.99641577060932383763973905-63973907
784TMEM7080.980842911877391578374890991-74890996, 74893758, 74893794-74893795, 74893804, 74893807-74893811
785DECR180.9771825396825423100891057113-91057122, 91057125, 91057198-91057209
786TMEM6780.998661311914324298894768045, 94827564, 94827573, 94828609
787VPS13B80.999166249791561011994100513937-100513945, 100654258
788RRM2B80.9990530303030311056103226319
789KIAA019680.99511494252874173480126044566, 126091003-126091012, 126095358-126095363
790SLURP180312312143822561-143822694, 143823221-143823340, 143823746-143823803
791CYP11B280.9993386243386211512143996314
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795DOCK890.9998412698412716300446526
796VLDLR90.995804729214341126222622219-2622228, 2652941
797JAK290.9982347749338633995044489, 5077453-5077457
798TOPORS90.996175908221812313832542764-32542775
799FANCG90.999464954521131186935076866
800NPR290.9904580152671830314435792413-35792414, 35792418, 35792423, 35792655-35792680
801GNE90.99734748010616226236227342-36227346, 36236905
802GRHPR90.975683890577512498737422749, 37424856, 37424863-37424867, 37424941, 37424968-37424972, 37426559-37426565, 37426615, 37426637, 37426647, 37432134
803TMC190.998247919404294228375406943, 75406960-75406961, 75420336
804TRPM690.999835228208931606977390946
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806ROR290.998587570621474283294495422, 94712187, 94712191, 94712213
807FBP190.9901671583087510101797365849, 97382641-97382649
808FANCC90.9874776386404321167797897764-97897784
809PTCH190.999309392265193434498231138-98231139, 98270569
810HSD17B390.9924973204716793399003146-99003152
811FOXE190.98841354723708131122100616700-100616703, 100616760, 100617140-100617147
812ABCA190.99661066902446236786107623960-107623982
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814ALAD90.9748237663645525993116154435, 116155727-116155749, 116155763
815CDK5RAP290.9987680394227475682123177372-123177375, 123253598, 123253602, 123253695
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817LMX1B90.96961572832887341119129376800-129376820, 129376855-129376867
818STXBP190.9966887417218561812130432211-130432216
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820GLE190.9995231282784912097131296173
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822ASS190.9951573849878961239133327706-133327711
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824SETX90.99688822504356258034135139872-135139890, 135153585-135153587, 135158748, 135221769-135221770
825TTF190.99411331861663162718135277198-135277213
826TSC190.99628040057225133495135771988-135771996, 135776981-135776982, 135776988, 135787748
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830DBH90.88241639697952181854136505030-136505032, 136505035-136505039, 136516756-136516805, 136516818-136516820, 136516865-136516884, 136518072-136518088, 136521658, 136521667-136521680, 136521702, 136521732-136521757, 136522192-136522193, 136522202-136522204, 136522227-136522281, 136522308-136522318, 136522322, 136523525, 136523528, 136523566-136523569
831SARDH90.931447225244831892757136529013-136529018, 136531950-136531992, 136535706-136535720, 136535748-136535791, 136535810-136535812, 136535840-136535868, 136536657-136536670, 136536679, 136536683, 136536713-136536732, 136555519, 136559380, 136559418-136559425, 136573412, 136577750, 136584096
832COL5A190.7165125974261415645517137534034-137534041, 137534053-137534133, 137582758-137582803, 137582812-137582925, 137591755-137591802, 137591824-137591835, 137591842-137591968, 137593017-137593056, 137593064-137593179, 137619112-137619121, 137619124-137619125, 137619195, 137619236, 137620516-137620524, 137620565-137620571, 137620628-137620631, 137622227-137622228, 137623385-137623398, 137630324, 137630631-137630654, 137642388-137642462, 137642677-137642728, 137644435-137644491, 137645696-137645739, 137645746-137645749, 137646131-137646169, 137648614-137648664, 137650089-137650099, 137650123-137650142, 137653771-137653824, 137655545, 137655572-137655583, 137657580, 137658310-137658321, 137658846-137658898, 137659189-137659196, 137660258, 137660304, 137664637-137664680, 137666711-137666758, 137671948-137671992, 137674523-137674566, 137676859-137676942, 137677841-137677854, 137677869-137677894, 137681003-137681030, 137687108-137687124, 137693800-137693808, 137696837-137696848, 137698040, 137698070-137698071, 137701113, 137704326-137704332, 137704459, 137704462, 137704511-137704513, 137705864-137705865, 137706736, 137708872-137708874, 137710597-137710598, 137710701-137710705, 137726980
833LHX390.722084367245663361209139089182-139089202, 139089226-139089267, 139089275-139089309, 139089323, 139089329, 139089332-139089349, 139089368-139089379, 139089457-139089463, 139089546-139089569, 139090498-139090502, 139090548-139090552, 139090754-139090789, 139090810, 139090836-139090880, 139090889-139090905, 139091578-139091582, 139092569-139092576, 139094821-139094872, 139094885
834INPP5E90.683204134366936131935139325505-139325514, 139325557-139325558, 139326277-139326329, 139326348-139326360, 139326378, 139326381-139326387, 139326398-139326404, 139326429, 139326437, 139327034, 139327424-139327439, 139327493-139327527, 139327684-139327700, 139327721-139327731, 139328523-139328540, 139328551, 139329278, 139329295, 139329304-139329315, 139333075, 139333101-139333142, 139333151-139333183, 139333212-139333220, 139333252-139333275, 139333307-139333351, 139333381-139333405, 139333429-139333477, 139333503-139333509, 139333515-139333587, 139333601-139333634, 139333694-139333727, 139333750-139333751, 139333755-139333763, 139333766-139333776, 139333865-139333871
835NOTCH190.1366718831507666207668139390523-139390527, 139390544-139390618, 139390634-139390744, 139390754-139390803, 139390819-139390858, 139390869-139391061, 139391085-139391118, 139391131-139391414, 139391427-139391462, 139391482-139391492, 139391498-139391503, 139391513-139391549, 139391556-139391562, 139391572-139391637, 139391663-139391679, 139391699-139391703, 139391716-139391727, 139391730, 139391733, 139391742-139391743, 139391748-139391768, 139391778-139391781, 139391791, 139391798-139391814, 139391820-139392010, 139393369-139393395, 139393404-139393416, 139393601-139393629, 139393660-139393678, 139393700-139393711, 139395004-139395061, 139395084-139395138, 139395149-139395179, 139395187-139395217, 139395222, 139395240-139395299, 139396200-139396365, 139396462-139396540, 139396724-139396754, 139396761-139396767, 139396769-139396800, 139396808-139396813, 139396819, 139396831-139396916, 139396926-139396940, 139397645-139397689, 139397702-139397748, 139397756-139397782, 139399125-139399240, 139399246-139399482, 139399509-139399556, 139399770-139399783, 139399807-139399932, 139399951-139399983, 139399992-139400045, 139400052-139400091, 139400097-139400333, 139400979-139401038, 139401050-139401056, 139401062-139401091, 139401168-139401212, 139401219-139401265, 139401283-139401425, 139401766-139401889, 139402407-139402427, 139402439-139402521, 139402528-139402591, 139402684-139402736, 139402758-139402779, 139402787-139402819, 139402822, 139403322-139403523, 139404185-139404234, 139404254-139404255, 139404294-139404295, 139404297-139404320, 139404342-139404347, 139404373-139404397, 139404406-139404413, 139405107-139405111, 139405115-139405173, 139405198-139405219, 139405227-139405257, 139405617-139405708, 139407473-139407586, 139407844-139407989, 139408962-139408965, 139408980, 139408984-139408991, 139409008-139409154, 139409742-139409852, 139409935-139410052, 139410061-139410168, 139410433-139410486, 139410500-139410546, 139411724-139411837, 139412204-139412389, 139412589-139412695, 139412706-139412744, 139413043-139413276, 139413895-139413940, 139413971-139414017, 139417302-139417640, 139418169-139418431, 139438483, 139438495-139438547, 139438550, 139440178-139440238
836AGPAT290.2389486260454637837139568204-139568268, 139568284-139568329, 139568338-139568379, 139569187-139569248, 139571037-139571045, 139571068-139571099, 139571106-139571109, 139571122-139571132, 139571413-139571433, 139571446-139571494, 139571515-139571517, 139571522-139571560, 139571586-139571588, 139571875-139571901, 139571906, 139571909-139571915, 139571928-139571968, 139571978, 139571988, 139571997, 139581628-139581673, 139581684-139581809
837SLC34A390.1422222222222215441800140126180-140126199, 140126226, 140126229-140126239, 140126549-140126560, 140126588-140126591, 140126596-140126608, 140127027-140127098, 140127105-140127155, 140127236-140127368, 140127456-140127471, 140127480, 140127503-140127567, 140127674-140127705, 140127715-140127759, 140127767-140127776, 140127796, 140127799-140127808, 140127818-140127856, 140128085-140128164, 140128315-140128393, 140128561-140128728, 140128868-140128984, 140129059-140129096, 140129106, 140129109, 140129118-140129176, 140130404-140130868
838EHMT190.812933025404167293897140513493-140513497, 140605419-140605455, 140605468-140605482, 140611078-140611634, 140622853, 140622880-140622905, 140622925-140622926, 140622935-140622942, 140622950-140622971, 140671237-140671243, 140672346, 140672352, 140672405, 140706062-140706064, 140707471-140707476, 140708896, 140708941, 140728945, 140729330-140729362, 140729403
839SHOXX0.62343572241183331879591633-591752, 591763-591769, 591776-591787, 591797, 591800, 591824-591902, 595353-595370, 595381, 595390-595399, 595460-595536, 595545, 595552-595554, 595557
840CSF2RAX0.2421455938697398913051401597-1401672, 1404671-1404813, 1407412-1407433, 1407444-1407476, 1407491-1407492, 1407505-1407509, 1407652-1407665, 1407674-1407709, 1407727-1407750, 1407758-1407781, 1409231-1409272, 1409309-1409338, 1409345-1409402, 1413221-1413354, 1414320-1414349, 1419384-1419519, 1422154-1422255, 1422816-1422861, 1422868-1422872, 1422891-1422897, 1424339-1424344, 1424402, 1424405-1424409, 1424418, 1428352-1428358
841ARSEX0.993220338983051217702853017-2853028
842HCCSX0.99876084262701180711136659
843TRAPPC2X0.976359338061471042313734133-13734142
844OFD1X0.99934188877922303913757136, 13764946
845AP1S2X0.97046413502111447415870562-15870575
846PHKA2X0.997572815533989370818919606, 18926926, 18926929-18926932, 18938175-18938177
847PDHA1X0.999147485080991117319377613
848SMSX0.9854677565849216110121958946-21958961
849ARXX0.9857904085257524168925031654-25031658, 25031663-25031678, 25031891, 25031895-25031896
850DMDX0.9998191354675321105832383293, 32407703
851RPGRX0.551893610870191550345938144796-38144831, 38144909-38144915, 38144940, 38144944-38144972, 38145002, 38145044-38145075, 38145086-38145110, 38145123-38145233, 38145249-38146106, 38146127-38146135, 38146157-38146188, 38146208-38146319, 38146334, 38146349-38146350, 38146353-38146362, 38146379, 38146391-38146414, 38146427-38146451, 38146472-38146498, 38147114-38147135, 38147159-38147167, 38147174-38147236, 38147243-38147253, 38147260-38147264, 38150266-38150277, 38150710-38150737, 38156605-38156618, 38156626, 38156629, 38156678-38156686, 38156694, 38158263, 38158320-38158321, 38158324-38158328, 38158355-38158377
852BCORX0.998481397114658526839930245-39930251, 39933101
853NYXX0.995850622406646144641333409-41333411, 41333416, 41333956-41333957
854CASKX0.999638467100511276641379755
855MAOAX0.9930555555555611158443571217, 43571991-43571992, 43572034, 43572037-43572043
856ZNF674X0.999427262313861174646359811
857ZNF41X0.99914529914532234047308207-47308208
858SYN1X0.996222851746938211847466545-47466552
859ZNF81X0.997482376636465198647774369, 47774529, 47774532, 47775929-47775930
860SYPX0.9968152866242394249050671-49050673
861CACNA1FX0.991742500842649593449061610, 49061659, 49061663, 49061677, 49061694, 49063026-49063027, 49063074, 49066210-49066211, 49067102-49067118, 49067493-49067494, 49067506, 49068407, 49068411, 49074956, 49079010, 49079013-49079027
862FOXP3X0.999228395061731129649110497
863CLCN5X0.999592003263971245149834642
864ARX0.9739413680781872276366765159-66765170, 66766353-66766412
865EDAX0.995748299319735117669247796-69247800
866MED12X0.999387817569644653470357434, 70361098-70361100
867TAF1X0.9934882083773337568270586197, 70586200-70586230, 70586328, 70586331, 70678130, 70683763-70683764
868ATRXX0.9978606765610416747976763924-76763933, 76931742-76931744, 76937130-76937132
869ATP7AX0.9973351099267212450377286975-77286984, 77287033-77287034
870BRWD3X0.9937141800702534540979964927-79964930, 79973081-79973089, 79973179, 79973190, 79973193, 79973234-79973245, 79975081-79975084, 79984334, 80064940
871ZNF711X0.9908136482939621228684519399-84519402, 84520236, 84520244-84520252, 84525756-84525762
872CHMX0.997451580020395196285128154, 85218673-85218676
873TIMM8AX0.996598639455781294100603529
874BTKX0.99292929292929141980100608211, 100608956-100608967, 100613390
875GLAX0.9992248062015511290100652805
876PRPS1X0.998955067920591957106884193
877ACSL4X0.9990636704119922136108906552, 108906564
878LAMP2X0.9927184466019491236119562386-119562392, 119562463-119562464
879CUL4BX0.9963530269876102742119691802-119691808, 119691812-119691814
880XIAPX0.96452476572959531494123019723-123019735, 123019744, 123019845, 123025115-123025145, 123040942-123040948
881OCRLX0.9996304508499612706128674442
882ZIC3X0.99074074074074131404136651134-136651146
883FAM58AX0.9809523809523814735152861478, 152864483-152864485, 152864512-152864521
884SLC6A8X0.667714884696026341908152954030-152954037, 152954044-152954291, 152955934, 152955945, 152955948-152955949, 152956762-152956794, 152957430-152957446, 152957470, 152958752-152958765, 152958799, 152958927, 152958931-152958933, 152958936, 152959459-152959472, 152959591-152959624, 152959636-152959638, 152959648-152959659, 152959687-152959701, 152959827-152959853, 152960023-152960036, 152960043-152960085, 152960203-152960272, 152960288-152960327, 152960529-152960553, 152960664-152960669
885ABCD1X0.878909740840042712238152990802, 152990849-152990852, 152990965-152990969, 152991074-152991076, 152991093-152991096, 152991166-152991172, 152991389, 152991436-152991442, 153001566-153001570, 153001633-153001639, 153001690, 153001852, 153001936, 153001959, 153002662, 153002682-153002689, 153006134-153006157, 153008454-153008486, 153008510-153008516, 153008675-153008678, 153008785-153008800, 153008943-153008950, 153009000-153009033, 153009083-153009123, 153009132-153009155, 153009167-153009189
886L1CAMX0.968998410174881173774153130295, 153130608-153130611, 153130622-153130629, 153132811-153132830, 153133317-153133319, 153135352, 153135585-153135587, 153135627-153135637, 153135874-153135909, 153136262-153136264, 153136267, 153136515-153136525, 153136586-153136590, 153136596, 153136600, 153136607, 153136610, 153137649, 153138075, 153138086-153138089
887AVPR2X0.9991039426523311116153171400
888MECP2X0.95925183700735611497153363062-153363122
889OPN1LWX0.93881278538813671095153416151, 153418456, 153418460, 153418520-153418544, 153420156-153420179, 153421905-153421919
890OPN1MWX0.90410958904111051095153453282, 153453337-153453343, 153455650-153455668, 153457281-153457303, 153458979-153458991, 153459007, 153459043-153459083
891OPN1MWX0.92054794520548871095153490455-153490461, 153492768-153492786, 153494404-153494422, 153496160-153496201
892FLNAX0.6480362537764427967944153577281-153577319, 153577381, 153577768-153577776, 153577815-153577852, 153577872-153577899, 153578031-153578070, 153578079-153578088, 153578124, 153578127, 153578162-153578192, 153579315-153579320, 153579979, 153580312, 153580319, 153580332-153580337, 153580341, 153580352, 153580556-153580577, 153580618-153580640, 153580653-153580686, 153580698, 153580738-153580745, 153580951-153580952, 153580959, 153580967, 153580999-153581043, 153581179-153581180, 153581183-153581200, 153581203-153581208, 153581380, 153581383-153581389, 153581400, 153581414-153581451, 153581485-153581489, 153581494-153581521, 153581550-153581556, 153581679-153581681, 153581685, 153581702, 153581706-153581766, 153581784-153581825, 153581922-153581923, 153581953-153581999, 153582022-153582048, 153582287, 153582307-153582310, 153582343, 153582401-153582405, 153582410-153582411, 153582532-153582539, 153582545-153582547, 153582552, 153582565-153582570, 153582599, 153582602-153582604, 153582609, 153582624, 153582805, 153583005, 153583020, 153583025, 153583037, 153583041, 153583066-153583079, 153583218, 153583292-153583312, 153583337, 153583377, 153583387-153583440, 153585804-153585812, 153585815-153585821, 153585841, 153585854, 153585861-153585862, 153585896-153585901, 153585908, 153585917, 153585921, 153585926-153585936, 153585942-153585950, 153586567-153586653, 153586659-153586665, 153586684-153586723, 153586818-153586866, 153586877-153586925, 153587366-153587406, 153587418, 153587426-153587432, 153587453, 153587491-153587518, 153587652-153587655, 153587658-153587661, 153587686-153587724, 153587737, 153587754, 153587763-153587767, 153587852-153587863, 153587893-153587902, 153587917, 153587970, 153587987-153588014, 153588100, 153588106-153588153, 153588161-153588210, 153588225-153588266, 153588369-153588382, 153588390-153588392, 153588396-153588398, 153588414-153588431, 153588460, 153588488-153588527, 153588550-153588571, 153588602-153588613, 153588627, 153588630-153588658, 153588706, 153588729-153588805, 153588816-153588819, 153588831, 153588853-153588878, 153588886-153588922, 153588942-153588943, 153588948-153588955, 153589696, 153589703-153589714, 153589750-153589767, 153589771-153589772, 153589794, 153589858, 153589880, 153589893-153589915, 153590047-153590049, 153590076-153590077, 153590127-153590135, 153590147-153590155, 153590349-153590421, 153590428, 153590441-153590446, 153590459-153590473, 153590479-153590511, 153590610-153590654, 153590690-153590691, 153590803-153590807, 153590850-153590886, 153590940, 153591029, 153591043-153591049, 153591082, 153591142-153591147, 153592402-153592452, 153592470, 153592664, 153592673-153592674, 153592925-153592936, 153592960-153592961, 153592976, 153593045-153593052, 153593257, 153593307-153593325, 153593531, 153593536-153593541, 153593551-153593557, 153593589-153593627, 153593717-153593728, 153593782-153593820, 153594392-153594394, 153594401, 153594432-153594434, 153594441-153594444, 153594449-153594460, 153594537, 153594571-153594592, 153594680-153594711, 153594772-153594782, 153594820-153594838, 153594945-153594974, 153595119, 153595125, 153595129-153595136, 153595165-153595180, 153595765-153595789, 153595799, 153595817-153595855, 153595869, 153595883-153595912, 153596009-153596031, 153596037-153596043, 153596077-153596102, 153596210-153596238, 153596248-153596293, 153596339-153596395, 153596430-153596458, 153599241-153599242, 153599265-153599304, 153599366-153599390, 153599415, 153599500, 153599556-153599589, 153599604-153599613
893EMDX0.6483660130719269765153607863-153607870, 153607879, 153608051, 153608054, 153608065-153608084, 153608089, 153608134-153608154, 153608302-153608316, 153608594-153608632, 153608659-153608697, 153609120-153609148, 153609269, 153609318-153609319, 153609333-153609347, 153609366-153609390, 153609433-153609437, 153609474-153609519
894TAZX0.76425855513308186789153640181-153640210, 153640238-153640263, 153640289, 153640423-153640446, 153640460-153640484, 153640512-153640535, 153641544-153641551, 153641588-153641589, 153641820-153641865
895GDI1X0.99181547619048111344153665625-153665626, 153667365-153667366, 153668762-153668768
896G6PDX0.89987789987791641638153760274-153760300, 153760413, 153760791-153760794, 153760817, 153761225, 153761264-153761266, 153761848-153761884, 153762308-153762322, 153762326-153762327, 153762346-153762372, 153762553-153762555, 153762559, 153762607-153762635, 153763526, 153763530, 153764164-153764165, 153764196, 153764199-153764205, 153764232
897IKBKGX0.98497267759563221464153770553-153770556, 153780233, 153788750, 153788768, 153792573-153792587
898IKBKGX0.9693251533742315489153868340-153868354
899F8X0.9997165532879827056154158461-154158462
VariantPhase/
Zygosity
Allele freqImpactEvaluationSummary / Info
3APOE-C130Rhet unknown0.135Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
2.5PEX7-G217Rhet unknown0.000Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests with associated GeneReview
2.5GJB2-M34Thet unknown0.010Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.808 (possibly damaging), Testable gene in GeneTests with associated GeneReview
2TGFBI-R666Shet unknown0.001Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
2HABP2-G534Ehet unknown0.028Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
2AGRP-A67Thet unknown0.030Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.857 (probably damaging)
2SP110-M523Thet unknown0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-L425Shomozygous0.863Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-G299Rhet unknown0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-A206Vhet unknown0.213Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2SP110-W112Rhomozygous0.917Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2DPYD-I543Vhet unknown0.185Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2DPYD-M166Vhet unknown0.078Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
2BRCA1-S1040Nhet unknown0.017Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.024 (benign), Testable gene in GeneTests with associated GeneReview
2TP53-P72Rhomozygous0.628Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.127 (benign), Testable gene in GeneTests with associated GeneReview
2SEMA4A-R713Qhet unknown0.037Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.553 (possibly damaging), Testable gene in GeneTests
2BRCA2-N372Hhomozygous0.237Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2BRCA2-V2466Ahomozygous0.977Dominant
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2BRCA2-K3326*het unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Nonsense mutation, Testable gene in GeneTests with associated GeneReview
2PCSK9-V474Ihomozygous0.817Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2PCSK9-G670Ehomozygous0.888Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2HLA-DQA1-L8Mhomozygous0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2HLA-DQA1-C34Yhomozygous0.450Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2HLA-DQA1-F41Shomozygous0.425Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2HLA-DQA1-Q57Ehomozygous0.265Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2HLA-DQA1-A68Vhomozygous0.354Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2HLA-DQA1-R70QhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2HLA-DQA1-W71Lhomozygous0.155Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2HLA-DQA1-E73LhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2HLA-DQA1-S75Rhomozygous0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2HLA-DQA1-K76Rhomozygous0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2HLA-DQA1-G78Rhomozygous0.182Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2HLA-DQA1-G79RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2HLA-DQA1-G84Fhomozygous0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2HLA-DQA1-R87Thomozygous0.259Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2HLA-DQA1-M89Ihomozygous0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2HLA-DQA1-A92Lhomozygous0.151Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2HLA-DQA1-M99VhomozygousUnknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2HLA-DQA1-Y103Shomozygous0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2HLA-DQA1-Q152Hhomozygous0.407Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2HLA-DQA1-Q198Ehomozygous0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2RET-G691Shet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.16 (benign), Testable gene in GeneTests with associated GeneReview
2RET-R982Chet unknown0.016Dominant
pathogenic
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.885 (probably damaging), Testable gene in GeneTests with associated GeneReview
2APOB-S4338Nhomozygous0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-E4181Khet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-I2313Vhet unknown0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-Y1422Chomozygous1.000Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-V730Ihet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-A618Vhet unknown0.366Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2KCNJ11-V337Ihomozygous0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2KCNJ11-K23Ehomozygous0.738Unknown
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.5PRF1-A91Vhet unknown0.033Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.852 (probably damaging), Testable gene in GeneTests with associated GeneReview
1.5TPMT-Y240Chet unknown0.046Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
1.5TPMT-A154Thet unknown0.028Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.667 (possibly damaging)
1.5EDN1-K198Nhomozygous0.206Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
1.5BANK1-R61Hhomozygous0.283Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5BANK1-A383Thomozygous0.295Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.778 (possibly damaging)
1.5BANK1-C650Rhomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5PRNP-M129Vhet unknown0.340Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.628 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1.5TLR4-D299Ghet unknown0.065Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
1.5TLR4-T399Ihet unknown0.047Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.016 (benign)
1.125FUT2-W154*het unknown0.491Recessive
protective
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
1.125FUT2-G258Shet unknown0.509Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.954 (probably damaging)
1KRT4-Q230Rhet unknown0.294Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1KRT4-G160GAGGFGAGFGTGGFGhomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1KRT4-A146Vhet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1HNF1A-I27Lhomozygous0.260Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1HNF1A-S487Nhomozygous0.246Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1HNF1A-S574Ghomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1BCAM-R77Hhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests
1BCAM-V196Ihet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1BCAM-T539Ahomozygous0.329Unknown
benign
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
1TGFB1-R25Phet unknown0.049Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ADRB2-G16Rhomozygous0.413Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
1ADRB2-E27Qhomozygous0.661Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
1GABRA6-T187Mhomozygous0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
1GABRG2-I215VhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1C19orf55-G398ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1HSH2D-S223Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TNXB-R48PhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1VSIG10L-Q860ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1VSIG10L-R592Qhomozygous0.563Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1VSIG10L-M356Ihet unknown0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1VSIG10L-N3Thet unknown0.605Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SLC22A1-L160Fhomozygous0.838Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SLC22A1-M408Vhomozygous0.640Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SLC22A1-M420Delhet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SLC22A1-G465Rhet unknown0.019Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.99 (probably damaging)
1HADHB-T2TThomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1TBP-Q74Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TBP-Q74Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TBP-Q77Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1TBP-Q78Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1ARMS2-R38*het unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation, Testable gene in GeneTests
1ARMS2-A69Shet unknown0.207Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1RGPD4-D761GhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1MS4A14-I56ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1MS4A14-N177Yhomozygous0.640Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
1MS4A14-G584Rhomozygous0.574Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
1HLA-DQB1-V235Ihomozygous0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-S214Nhomozygous0.336Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-A172Thomozygous0.324Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-G157Ahomozygous0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-G102Rhomozygous0.454Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-R87PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-Q85LhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-G77EhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-L58YhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-F41Yhomozygous0.782Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-LL28PVhomozygous0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-S27Thomozygous0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-V15Ahomozygous0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-D12Ghomozygous0.400Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PKHD1-L1870Vhomozygous0.952Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PKHD1-A1262Vhet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PKHD1-N830Shet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PKHD1-R760Chet unknown0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PKHD1-G672Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1B3GNT6-L316ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1B3GNT6-L335ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF761-L47ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF761-I122Shomozygous0.686Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-V168Ihomozygous0.770Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SSTR1-*392*ARATQGL*homozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1INSR-A2GhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
1ELAC2-S217Lhet unknown0.273Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.025 (benign), Testable gene in GeneTests
1PIK3R6-L609ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KRTAP7-1-I61Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KRTAP7-1-S51Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KRTAP7-1-Y17ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SEBOX-D124Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1SEBOX-W10ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ATXN7-W95Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ATXN7-K264Rhet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.949 (probably damaging), Testable gene in GeneTests with associated GeneReview
1SCARF2-A832Ghet unknown0.650Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SCARF2-DV772ELhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1SCARF2-E764ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SCARF2-L726Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NR_027052-Q90*homozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1AP1S2-T35AhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1AP1S2-R29PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ZNF167-N494ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1RYK-P24Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1RYK-L17ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TGIF1-P83Shifthet unknown0.139Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests with associated GeneReview
1TGIF1-P292Lhet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GALC-T641Ahomozygous0.959Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GALC-D248Nhomozygous0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.972 (probably damaging), Testable gene in GeneTests with associated GeneReview
1GALC-A21Phomozygous0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.163 (benign), Testable gene in GeneTests with associated GeneReview
1VCAN-K349Ehet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests with associated GeneReview
1VCAN-G428Dhet unknown0.173Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.923 (probably damaging), Testable gene in GeneTests with associated GeneReview
1VCAN-K1516Rhet unknown0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1VCAN-F2301Yhet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GPR98-L1093Fhomozygous0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GPR98-V1951Ihomozygous0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GPR98-P1987Lhomozygous0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.366 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1GPR98-Y2232Chomozygous0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.989 (probably damaging), Testable gene in GeneTests with associated GeneReview
1GPR98-N2345Shomozygous0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
1GPR98-N2584Shomozygous0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GPR98-E3471Khomozygous0.758Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GPR98-Y4235Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GPR98-E5344Ghomozygous0.937Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
1GPR98-V5427Mhomozygous0.972Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GPR98-V5876Ihomozygous0.432Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.94 (probably damaging), Testable gene in GeneTests with associated GeneReview
1GPHB5-F53Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1IL7R-I66Thomozygous0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1IL7R-V138Ihomozygous0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1IL7R-I356Vhomozygous0.294Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1AX746903-T82ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1AX746903-Q107RRhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1FERMT1-R526Khomozygous0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1CNGA1-S3FhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ZNF598-E25GhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF598-E17AhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF598-G6ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1POLG-Q1236Hhet unknown0.058Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.937 (probably damaging), Testable gene in GeneTests with associated GeneReview
1C14orf104-D768GhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1C14orf104-E62DhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TBX22-E187Khet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests
1USH2A-E3411Ahet unknown0.573Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1USH2A-D3144Nhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.168 (benign), Testable gene in GeneTests with associated GeneReview
1USH2A-N3099Shet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.662 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1USH2A-R2875Qhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.077 (benign), Testable gene in GeneTests with associated GeneReview
1USH2A-I2169Thet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1USH2A-I2106Thomozygous0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1USH2A-R1486Khet unknown0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview
1USH2A-A125Thomozygous0.719Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FAM151A-G546Dhet unknown0.032Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.625 (possibly damaging)
1FAM151A-G526Ahet unknown0.085Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1FAM151A-A416Vhet unknown0.429Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
1GSTM1-K173Nhomozygous0.264Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1NR_002144-DDDFE68DelhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1NR_002144-SE75PhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1NR_002144-L77ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NR_002144-Q280Rhomozygous0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1NR_002144-Y307Hhomozygous0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1NR_002144-L312Rhomozygous0.856Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1TTF1-G360Vhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.988 (probably damaging), Testable gene in GeneTests
1TCEAL6-Q175Shifthomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1DGKK-L1014ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KCP-K395Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KCP-H313ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KCP-A16ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1GLI3-R1537Chet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests with associated GeneReview
1GLI3-G1336Ehet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.965 (probably damaging), Testable gene in GeneTests with associated GeneReview
1GLI3-P998Lhet unknown0.252Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GLI3-T183Ahet unknown0.666Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PLEKHA2-P389Shifthomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CHIT1-V357V*het unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation, Testable gene in GeneTests
1CHIT1-G102Shet unknown0.281Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.057 (benign), Testable gene in GeneTests
1HRNR-S799Thet unknown0.725Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-R664Qhet unknown0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-G492Rhet unknown0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-E473Ghomozygous0.950Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-Q376Rhomozygous0.950Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-H273Qhet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-R85Hhet unknown0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.078 (benign)
1HRNR-M1ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1F5-M1764Vhet unknown0.291Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-E1530Ahet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-K925Ehet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-H865Rhet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-K858Rhet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-Q534Rhomozygous0.978Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1MTHFR-E429Ahomozygous0.255Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.099 (benign), Testable gene in GeneTests
1ALG2-V367Ahet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ALG2-S11Phet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CFH-V62Ihet unknown0.392Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CFH-H402Yhet unknown0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NEFL-S472ShifthomozygousUnknown
benign
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.75CILP-G1166Shet unknown0.734Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-Q979Rhomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-K575Ehomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-I395Thet unknown0.632Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-R95Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.75CHRNA5-D398Nhet unknown0.249Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.75ADD1-G460Whet unknown0.157Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.75ADD1-S617Chet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75AURKA-M373Vhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.75AURKA-I57Vhomozygous0.836Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75AURKA-F31Ihet unknown0.188Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.625NOTCH2-P210Lhet unknown0.333Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625NOTCH2-N46Shet unknown0.321Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.922 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.625NOTCH2-P6Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.5CLCNKA-R8Hhet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests
0.5CLCNKA-R83Ghomozygous0.600Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKA-A447Thomozygous0.599Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5OVGP1-E676Qhet unknown0.522Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OVGP1-M479Vhet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.963 (probably damaging)
0.5OVGP1-M477Thet unknown0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5OVGP1-D332Ehet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging)
0.5KRT34-R376Whet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5KRT34-H348Rhomozygous0.196Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KRT34-I280Thomozygous0.743Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GPR179-K1150Ehet unknown0.158Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GPR179-R884Whet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5UNC45B-V60Ihet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5MAP2K3-P40Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.968 (probably damaging)
0.5MAP2K3-R55Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MAP2K3-S68Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.029 (benign)
0.5MAP2K3-A84Thet unknown0.231Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MAP2K3-R94Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.992 (probably damaging)
0.5MAP2K3-R96Whet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5MAP2K3-Q102*het unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5MAP2K3-L215Whet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5MAP2K3-T222Mhet unknown0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5MAP2K3-R293Hhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.338 (possibly damaging)
0.5MAP2K3-V339Mhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.815 (possibly damaging)
0.5CASQ2-T66Ahomozygous0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PTPN22-W620Rhomozygous0.934Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5JUP-M697Lhomozygous0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CLCNKB-R27Lhet unknown0.523Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-A214Ghomozygous0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-A287Vhomozygous0.811Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-R438Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-A577Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-K578Ehomozygous0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL1A1-T1075Ahomozygous0.971Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TPO-A257Shomozygous0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TPO-T725Phomozygous0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AK094748-D110Ahet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AK094748-S209Shifthet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PNPO-R116Qhet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.953 (probably damaging), Testable gene in GeneTests
0.5MAP3K14-S140Nhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5DHX58-Q546Rhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5DHX58-N461Shet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5DHX58-Q425Rhet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AOC2-I5Vhet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5RAD51AP2-R976Hhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5RAD51AP2-V876Lhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.242 (possibly damaging)
0.5RAD51AP2-S760Ihet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.048 (benign)
0.5RAD51AP2-C533Yhet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5RAD51AP2-T531Ihet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5RAD51AP2-Q490Hhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.955 (probably damaging)
0.5RAD51AP2-T488Ihet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.375 (possibly damaging)
0.5COX10-R159Qhomozygous0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SIX5-V693Mhet unknown0.343Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.086 (benign), Testable gene in GeneTests with associated GeneReview
0.5SIX5-P635Shet unknown0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5NOB1-Y366Fhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.834 (possibly damaging)
0.5NOB1-R231Qhet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5DHODH-K7Qhomozygous0.542Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5FLG-T3579Ghet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-V3179Ghet unknown0.147Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5FLG-D2936Ghet unknown0.092Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-G2545Rhet unknown0.282Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5FLG-L2481Shet unknown0.158Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5FLG-H2209Rhet unknown0.148Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-Y2194Hhet unknown0.348Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-H1961Qhet unknown0.348Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-S1482Yhet unknown0.107Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTC24-P252Ahet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CNGB1-A961Vhet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CNGB1-K911Rhet unknown0.082Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CNGB1-R100Hhomozygous0.757Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCC6-M848Vhomozygous0.962Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-H632Qhet unknown0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC6-V614Ahet unknown0.458Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SALL1-V1275Ihomozygous0.988Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR56-S281Rhomozygous0.609Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCG8-Y54Chet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.01 (benign), Testable gene in GeneTests
0.5ABCG8-V632Ahomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PKD1L2-L2414Fhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PKD1L2-M2313Ihomozygous0.921Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PKD1L2-G2257Dhet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PKD1L2-S2207Thet unknown0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PKD1L2-S2207Thet unknown0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PKD1L2-L2189Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PKD1L2-S2137Fhomozygous0.905Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PKD1L2-L2117Ihet unknown0.154Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PKD1L2-Y2079Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PKD1L2-A2054Thet unknown0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PKD1L2-Y2048Shet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PKD1L2-P2045Lhet unknown0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PKD1L2-Q2035Rhet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PKD1L2-H1974Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PKD1L2-M1866Vhomozygous0.955Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PKD1L2-G1847Rhomozygous0.568Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PKD1L2-Q1701Hhet unknown0.435Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PKD1L2-G1268Shet unknown0.196Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PKD1L2-T1048Ahomozygous0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PKD1L2-M1042Vhet unknown0.226Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PKD1L2-R1040*het unknown0.216Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5PKD1L2-L1036Phet unknown0.166Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PKD1L2-A863Vhet unknown0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PKD1L2-L711Phomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PKD1L2-P512Lhomozygous0.754Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PKD1L2-K416Qhomozygous0.783Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PKD1L2-P301Ahet unknown0.353Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PKD1L2-R252Whet unknown0.461Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PKD1L2-N236Shifthet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5PKD1L2-E221Ghomozygous0.773Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PKD1L2-Q220*het unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5PKD1L2-L173Shet unknown0.349Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PKD1L2-G129Dhet unknown0.269Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PKD1L2-Q120Lhomozygous0.577Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PKD1L2-K77Nhet unknown0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PKD1L2-W73Rhomozygous0.634Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PKD1L2-V20Ahomozygous0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GCKR-L446Phomozygous0.679Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF687-G259Ehet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF687-G636Shet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.949 (probably damaging)
0.5OTOF-R1157Qhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.757 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5CTNS-T260Ihomozygous0.828Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCA-G809Dhomozygous0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCA-T266Ahomozygous0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5CYP1B1-N453Shet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.837 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5CYP1B1-V432Lhet unknown0.445Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SPG7-T503Ahet unknown0.142Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5SPG7-R688Qhet unknown0.142Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.203 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5ALK-I1461Vhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF543-P55Ahet unknown0.555Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.342 (possibly damaging)
0.5ZNF543-Q107Rhet unknown0.751Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF543-L246Hhet unknown0.751Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF543-G559Rhet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.987 (probably damaging)
0.5BZRAP1-G1830Ehet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.204 (possibly damaging)
0.5BZRAP1-H1728Rhomozygous0.299Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5BZRAP1-D1301Nhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5BZRAP1-Q817Rhet unknown0.145Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BZRAP1-A586Thet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5BZRAP1-Q514Rhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5BZRAP1-G79Ehet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.419 (possibly damaging)
0.5NOTCH3-A2223Vhomozygous0.730Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KCNC3-D63Ghomozygous0.680Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TMEM38A-Y29Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TMEM38A-I34Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ICAM1-G241Rhet unknown0.075Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.948 (probably damaging)
0.5ICAM1-K469Ehet unknown0.349Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF562-G141Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MAST2-D388Ehet unknown0.791Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MAST2-G1468Ahet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.491 (possibly damaging)
0.5ADAMTS10-H1101Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DEM1-D115Nhet unknown0.155Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.158 (benign)
0.5DEM1-L151Phet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.948 (probably damaging)
0.5DEM1-G172Vhet unknown0.464Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RFXANK-E48Dhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ZNF101-H360Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZNF224-K640Ehomozygous0.713Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SEPN1-C108Yhomozygous0.788Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SEPN1-N467Khomozygous0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMPK-L423Vhet unknown0.095Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CCDC28B-R25Whet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.995 (probably damaging)
0.5PRX-G1132Rhomozygous0.955Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-P1083Rhomozygous0.130Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.793 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5PRX-I921Mhomozygous0.364Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-V882Ahomozygous0.609Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview
0.5COL9A2-Q326Rhet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL9A2-T246Mhet unknown0.025Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DLL3-L142Qhet unknown0.054Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.707 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5DLL3-F172Chet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DLL3-L218Phet unknown0.593Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ESPN-R422Whet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ESPN-G454Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ESPN-R550Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KISS1R-L364Hhomozygous0.884Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ELANE-P257Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.031 (benign), Testable gene in GeneTests with associated GeneReview
0.5COG1-N392Shomozygous0.530Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TSEN54-K347Nhet unknown0.535Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.968 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5TSEN54-Q389Phet unknown0.072Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.053 (benign), Testable gene in GeneTests with associated GeneReview
0.5TSEN54-A437Vhet unknown0.659Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5STIL-H985Rhet unknown0.279Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.648 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5STIL-A86Vhomozygous0.595Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN4A-P875Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN4A-S524Ghomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KCNH6-Y54Chet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5KCNH6-L761Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5EIF4G3-P496Ahet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.97 (probably damaging)
0.5CPT2-V368Ihomozygous0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CPT2-M647Vhet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5BRIP1-S919Phomozygous0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ITGB4-R800Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ITGB4-T973Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF880-N106Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZNF880-N140NNhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZNF880-R198Shet unknown0.358Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF880-N202Hhet unknown0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF880-K471Rhet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LAMA3-S2834Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYO5B-G1321Ehet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO5B-L1055LLhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO5B-R918Hhet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO5B-T126Ahomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ATP8B1-A1152Thomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5POMGNT1-M623Vhomozygous0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-R3632Qhet unknown0.112Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-S2995Ghet unknown0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-L2980Hhet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-G2225Shet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-V1967Ihet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-A1503Vhomozygous0.694Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-N765Shomozygous0.933Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSPG2-M638Vhomozygous0.974Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ACOX1-I312Mhomozygous0.505Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZNF480-C3Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5FPR1-E346Ahomozygous0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-N192Khet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-R190Whet unknown0.113Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-I11Thomozygous0.773Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP4A22-R126Whet unknown0.221Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP4A22-G130Shet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5CYP4A22-N152Yhet unknown0.545Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP4A22-V185Fhet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.472 (possibly damaging)
0.5CYP4A22-C231Rhet unknown0.392Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP4A22-P385Lhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5CYP4A22-L428Phet unknown0.232Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLX4-A1221Vhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.263 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5SLX4-P1122Lhet unknown0.216Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5SLX4-A952Mhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLX4-L671Shet unknown0.076Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLX4-N457Khet unknown0.065Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLX4-R204Chet unknown0.071Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5MYH11-E1899Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYH11-A1420Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PPYR1-V276Mhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.889 (probably damaging)
0.5CLECL1-S52Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SLCO1B3-S112Ahomozygous0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLCO1B3-M233Ihomozygous0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.131 (benign)
0.5CHAT-L243Fhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.202 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5CHAT-V461Mhomozygous0.961Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MRPL51-L117Fhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
0.5ZC3H12C-D852Ahet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.983 (probably damaging)
0.5WNK1-A141Thet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-T1056Phomozygous0.850Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-M1808Ihet unknown0.432Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRTM2-D161Nhet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.853 (probably damaging)
0.5VWF-T1381Ahomozygous0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-Q852Rhomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-H484Rhomozygous0.503Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.83 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5PTCHD3-D590Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PTCHD3-I584Mhomozygous0.960Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-C407Ghet unknown0.419Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5PTCHD3-L152Phet unknown0.267Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.5LRRK2-R50Hhomozygous0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-S1647Thet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-M2397Thomozygous0.614Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CUBN-S2717Whomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-C2162Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P1559Shomozygous0.743Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P389Thomozygous0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-F253Shet unknown0.703Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HPD-T33Ahomozygous0.902Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5OPTN-K322Ehomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TUBA3C-V75Lhet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5PTF1A-S263Phomozygous0.507Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests
0.5KRT6B-Y497Chet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VDR-M1Thet unknown0.676Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5COL2A1-V1331Ihet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL2A1-T9Shomozygous0.791Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MLL2-P813Lhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests
0.5LARP4-F351Lhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.99 (probably damaging)
0.5ATM-N1983Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRKG1-N267Shet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CDH23-G488Ahomozygous0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-N1349Dhomozygous0.813Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-A1572Thomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC8-A1369Shomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-G102Shet unknown0.369Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-F124Shet unknown0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-A162Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-D463Nhet unknown0.231Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.122 (benign), Testable gene in GeneTests with associated GeneReview
0.5CYP2C9-I359Lhet unknown0.049Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.048 (benign)
0.5RIC3-D351Nhet unknown0.085Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RIC3-C130Yhet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.232 (possibly damaging)
0.5RIC3-G121Ahet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.5GFRA1-Y85Nhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging)
0.5COL17A1-M703Vhomozygous0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-G428Shomozygous0.845Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-T210Mhomozygous0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC2-Y39Fhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5H19-G355Rhomozygous0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5H19-V94Ihomozygous0.361Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5H19-W38Rhomozygous0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TCP11L1-R508Qhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.835 (possibly damaging)
0.5RAG1-H249Rhomozygous0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RAG1-K820Rhomozygous0.110Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.014 (benign), Testable gene in GeneTests
0.5IGHMBP2-L201Shomozygous0.777Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IGHMBP2-T879Khomozygous0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCDH15-D440Ahomozygous0.131Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TYR-S192Yhet unknown0.271Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.919 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5TRIM64-I58Thet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TRIM64-V238Mhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TRIM64-E242Vhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TRIM64-Q358Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TRIM64-Q405Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5MEN1-T546Ahomozygous0.908Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ROM1-G118Ahomozygous0.938Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests
0.5ALX4-P102Shet unknown0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALX4-R35Thet unknown0.419Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5PEX16-V116Ihomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC29A3-R18Ghomozygous0.488Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-S158Fhet unknown0.618Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-V239Ihomozygous0.864Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-I326Vhomozygous0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TUT1-N610Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TUT1-A607Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TUBAL3-R250Whet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
0.5SACS-F2780Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SACS-A694Thet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CCPG1-Y235Chet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ITGA11-P972Lhomozygous0.592Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ITGA11-R407Hhet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
0.5NR2E3-T318Shifthomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.5MYO5C-R172Chet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging)
0.5FBN1-C472Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZFYVE19-R48Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZFYVE19-S376Ahomozygous0.752Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5PLA2G4E-A39Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PLA2G4E-G36Shifthet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PLA2G4E-C5Rhomozygous0.356Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5STRC-Q84Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC28A2-P22Lhomozygous0.474Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC28A2-S75Rhomozygous0.497Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LAMC2-T124Mhet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5LAMC2-S733Thet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.935 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5HEXA-I436Vhomozygous0.867Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADRB1-G389Rhomozygous0.681Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PEAR1-S234Phomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PEAR1-S381Fhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.978 (probably damaging)
0.5TRAP1-R692Hhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.483 (possibly damaging)
0.5TRAP1-S259LhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ABAT-Q56Rhomozygous0.514Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AK311524-V28Ahomozygous0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AK311524-W181Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5OR2C1-C149Whomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OR2C1-F273Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AGBL1-R112Chet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.928 (probably damaging)
0.5AGBL1-Q1010Rhomozygous0.890Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5VPS33B-V602Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5VPS33B-A601Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5USP21-G321Dhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging)
0.5SRRM2-P804Thet unknown0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SRRM2-T856Rhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TJP1-I790Vhet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.984 (probably damaging)
0.5MAGEL2-L448Ihet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5RPGRIP1-K192Ehomozygous0.483Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RPGRIP1-A547Shet unknown0.232Complex/Other
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.03 (benign), Testable gene in GeneTests with associated GeneReview
0.5MYH6-V1101Ahomozygous0.461Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYH6-G56Rhet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PCK2-Q121Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCK2-R561Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NR_028064-H41Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MTR-D919Ghet unknown0.217Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.777 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5CENPJ-S879Ahet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5CENPJ-P85Thet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.021 (benign), Testable gene in GeneTests with associated GeneReview
0.5CENPJ-M21Vhet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5OLFM4-R214*het unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5COL4A1-T555Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RYR2-A1136Vhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EDARADD-M9Ihomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LBR-S154Nhomozygous0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MLH3-N826Dhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TSHR-E727Dhomozygous0.920Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ASPM-L2647Ihet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-Q2620Hhet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-S2562Ghet unknown0.317Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-Y2494Hhomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HMCN1-I2418Thomozygous0.525Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests
0.5HMCN1-E2893Ghomozygous0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.91 (probably damaging), Testable gene in GeneTests
0.5HMCN1-Q4437Rhet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.5ZFYVE26-N1891Shomozygous0.942Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZFYVE26-C1457Yhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.5ZFYVE26-T898Shet unknown0.090Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests
0.5MTHFD1-K134Rhet unknown0.831Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MTHFD1-R653Qhomozygous0.376Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.5FANCM-N655Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCM-V878Lhet unknown0.189Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCM-I1460Vhet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.5FANCM-P1812Ahet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.958 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5SLC3A1-M618Ihomozygous0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5SIX6-H141Nhomozygous0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE2-M1969Thomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests
0.5SYNE2-A2284Vhomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-S2359Nhomozygous0.769Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-A2395Thomozygous0.880Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-S2802Ghomozygous0.914Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.5SYNE2-I2942Vhomozygous0.723Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-D3253Hhomozygous0.740Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests
0.5SYNE2-H3309Rhomozygous0.742Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5SYNE2-L5186Mhet unknown0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FCGBP-P4788Shet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5FCGBP-V4469Ihet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5FCGBP-H3668Rhomozygous0.575Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FCGBP-N2089Dhomozygous0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FCGBP-R1095Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CACNA2D2-R75Qhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5EGFR-R521Khet unknown0.203Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CFI-T300Ahomozygous0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DDC-M17Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ELN-G422Shomozygous0.332Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CENPE-S1911Thet unknown0.183Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CENPE-T1268Ihet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CENPE-S851Ahet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.956 (probably damaging)
0.5ABCB1-S893Ahomozygous0.683Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ADH1B-H48Rhomozygous0.963Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HGF-E304Khet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.028 (benign), Testable gene in GeneTests with associated GeneReview
0.5CCM2-V53Ihet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview
0.5NR_024390-W43*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5NR_024390-A104Phet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CCDC111-V102Ahet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5CCDC111-Q168Rhomozygous0.958Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TXNDC3-R43Khet unknown0.286Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TXNDC3-C208Rhet unknown0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TXNDC3-R336Hhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.214 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5TXNDC3-I493Thet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.074 (benign), Testable gene in GeneTests with associated GeneReview
0.5BBS9-A455Thomozygous0.173Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AGA-T149Shomozygous0.923Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FNIP2-S551Rhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.5PRSS12-R833Qhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.982 (probably damaging)
0.5PRSS12-R55Thomozygous0.556Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5NR3C2-V180Ihomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TLR2-P631Hhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
0.5AKAP9-M463Ihet unknown0.442Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AKAP9-K1335KQhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AKAP9-N2792Shet unknown0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AKAP9-P2979Shomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5YTHDC1-H183Rhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.882 (probably damaging)
0.5MTUS1-S267Phet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5MTUS1-W208Shet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.928 (probably damaging)
0.5MTUS1-C148Rhomozygous0.730Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.986 (probably damaging)
0.5CASR-A986Shet unknown0.109Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5CASR-E1011Qhomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC12A8-R664Qhet unknown0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.036 (benign)
0.5SLC12A8-I281Vhomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5SLC12A8-P266Lhomozygous0.982Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC12A8-R181Chet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5SLC9A10-V1058Ahet unknown0.054Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.021 (benign)
0.5SLC9A10-M844Vhet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5SLC9A10-Q732Khomozygous0.736Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.99 (probably damaging)
0.5SLC9A10-T705Ihomozygous0.737Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5SLC9A10-I364Vhet unknown0.577Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC9A10-I348Mhet unknown0.577Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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
0.5KBTBD8-F179Lhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5LMOD3-R83Hhet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5GBE1-I334Vhomozygous0.980Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GBE1-R190Ghet unknown0.292Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.025 (benign), Testable gene in GeneTests with associated GeneReview
0.5PLXNA1-I1223Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PLXNA1-G1228Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CEP63-Q185Hhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5HTT-T1720Nhet unknown0.205Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HTT-Y2309Hhomozygous0.466Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HTT-V2786Ihet unknown0.216Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EVC-Y258Hhomozygous0.706Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5EVC-T449Khomozygous0.852Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EVC-R576Qhet unknown0.309Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.5WFS1-V333Ihomozygous0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WFS1-R611Hhet unknown0.400Recessive
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5CYP3A7-R409Thomozygous0.762Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC17-A427Thomozygous0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MUC17-D4334Nhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5MCPH1-R171Shomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D314Hhomozygous0.681Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D392Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-A761Vhet unknown0.408Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-P828Shet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC2A2-P68Lhet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYOM2-V321Lhet unknown0.315Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MYOM2-S523Nhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5MYOM2-N869Shet unknown0.437Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MYOM2-V1168Ahet unknown0.088Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RNF133-M1Ihet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.965 (probably damaging)
0.5HOXA1-R73Hhomozygous0.728Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DFNA5-V207Mhet unknown0.079Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.715 (possibly damaging), Testable gene in GeneTests
0.5DFNA5-P142Thet unknown0.166Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.292 (possibly damaging), Testable gene in GeneTests
0.5FILIP1-L282Fhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.924 (probably damaging)
0.5HLA-L-H17Rhet unknown0.260Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-L-I30Vhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-L-R38Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5HLA-L-A142Vhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-L-W144*het unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5HLA-L-C172Yhet unknown0.253Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PSORS1C2-P94Shifthet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PSORS1C2-L83Phomozygous0.919Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HLA-H-D29Ahet unknown0.071Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-P32Qhet unknown0.060Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-E34Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-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-G109Shet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-R141Qhet unknown0.188Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-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-S182Whomozygous0.392Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-C238Shomozygous0.729Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-G-T282Mhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5AIM1-E1196Ahomozygous0.930Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0.5F13A1-E652Qhomozygous0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5F13A1-V651Ihet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NHLRC1-P111Lhet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5MICA-A47Thet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5MICA-Y59Chet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-V152Mhet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-H179Lhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5MICA-E196Khet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-S229Ghet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-R233Whet unknown0.259Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MICA-I236Thet unknown0.466Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-T238Shet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-R274Qhet unknown0.478Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-G318Shifthet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5PRIM2-E181Khet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-D204Ghet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-S259Ghet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-Q265Lhet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-L286Phet unknown0.441Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-Y287Chet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-H289Rhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-C302Rhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-G304*het unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5PRIM2-V310Dhet unknown0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-T323Ahet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-Q325*het unknown0.492Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5PRIM2-G434Dhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-H445Qhomozygous0.767Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-S464Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTK7-R1038Qhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.322 (possibly damaging)
0.5PRPH2-D338Ghomozygous0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PRPH2-R310Khomozygous0.931Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUL7-Q813Rhomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A2-P894Lhet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5COL11A2-E276Khet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.651 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5AGER-G82Shet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.983 (probably damaging)
0.5HSPA1L-E602Khet unknown0.237Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HSPA1L-E558Ahet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.157 (benign)
0.5HSPA1L-T493Mhomozygous0.873Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5EFHC1-R159Whet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.057 (benign), Testable gene in GeneTests
0.5EFHC1-M448Thet unknown0.087Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.578 (possibly damaging), Testable gene in GeneTests
0.5TNXB-N4055Ihet unknown0.220Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-R3209Ghet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-R2704Hhet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-G2518Ehet unknown0.685Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-P2412Lhet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-H1161Rhet unknown0.477Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PROP1-A142Thet unknown0.239Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PROP1-N20Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NSD1-V614Lhet unknown0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NSD1-S726Phet unknown0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.92 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5APC-V1822Dhomozygous0.826Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALDH7A1-K439Qhet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FBN2-S2580Lhet unknown0.078Dominant
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FBN2-V965Ihomozygous0.665Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LNPEP-V359Ihet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.984 (probably damaging)
0.5ERAP2-L669Qhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5HEXB-L62Shomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AP3B1-V585Ehomozygous0.932Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5DNAH11-E34Lhet unknown0.368Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-P232Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-Q639Rhet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-S654Chet unknown0.123Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-V1023Ahet unknown0.350Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T1038Ahomozygous0.816Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-A3474Thet unknown0.350Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-V3715Lhomozygous0.603Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-M4172Vhet unknown0.718Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IL13-Q144Rhomozygous0.811Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NR_027127-W61*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5FGFR4-P136Lhomozygous0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FGFR4-G388Rhomozygous0.241Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.481 (possibly damaging)
0.5FNDC1-P122Shet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.958 (probably damaging)
0.5FNDC1-T438Ahet unknown0.352Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FNDC1-E463Qhet unknown0.856Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.25 (possibly damaging)
0.5FNDC1-Q1003Ehet unknown0.854Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.25 (possibly damaging)
0.5FNDC1-D1180Ehet unknown0.856Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.47 (possibly damaging)
0.5FNDC1-L1261Phet unknown0.852Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.38 (possibly damaging)
0.5FNDC1-Q1280Rhet unknown0.853Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.25 (possibly damaging)
0.5FNDC1-T1504Khet unknown0.872Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SYNE1-F7302Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-L5015Mhet unknown0.808Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-L4755Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-S4596Thet unknown0.793Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-K4121Rhet unknown0.784Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC22A2-S270Ahomozygous0.881Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MSX2-M129Thomozygous0.753Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SPINK5-Q267Rhet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-A335Vhet unknown0.440Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-S368Nhet unknown0.428Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-K420Ehet unknown0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-R711Qhomozygous0.545Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FRMD1-Q456Ehomozygous0.887Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FRMD1-R228Qhet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.983 (probably damaging)
0.5SLC26A2-I574Thomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GM2A-I59Vhomozygous0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GM2A-M69Vhomozygous0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GM2A-V153Ahet unknown0.072Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.5MCCC1-H464Phomozygous0.584Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SALL4-L507Rhet unknown0.281Dominant
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.125 (benign), Testable gene in GeneTests with associated GeneReview
0.5ANO7-D70Nhet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.955 (probably damaging)
0.5ROR2-V819Ihomozygous0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DL492456-R148Hhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5DL492456-Y109ChomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5DL492456-W104*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5NEB-I6534Vhet unknown0.422Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-A6277Phet unknown0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-R4389Thet unknown0.648Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-M3461Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-W3348Chet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-K2613Nhet unknown0.351Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-Y1301Hhomozygous0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-K1027Nhet unknown0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-K393Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRFIP1-Q275Rhet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5LRRFIP1-R690Thet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LRRFIP1-H783Dhet unknown0.275Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5LY75-K1347Rhet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.895 (probably damaging)
0.5LY75-K1321Nhet unknown0.849Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LY75-P1247Lhet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5LY75-D807Ehet unknown0.422Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LY75-E268Dhet unknown0.195Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.018 (benign)
0.5LCT-N1639Shet unknown0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LCT-I362Vhomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LCT-V219Ihet unknown0.273Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DEFB126-Q55Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5DEFB126-P106Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5BPIL1-D359Hhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.924 (probably damaging)
0.5TG-D1312Ghet unknown0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-D1838Nhet unknown0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.061 (benign), Testable gene in GeneTests
0.5TG-M1974Thet unknown0.147Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-S2132Lhet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TG-W2501Rhet unknown0.614Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.031 (benign), Testable gene in GeneTests
0.5TG-R2530Qhet unknown0.572Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5DOCK8-A22Vhet unknown0.317Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.009 (benign), Testable gene in GeneTests
0.5DOCK8-P97Thomozygous0.465Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests
0.5DOCK8-N413Shet unknown0.277Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.19 (benign), Testable gene in GeneTests
0.5COL3A1-A698Thet unknown0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL3A1-H1353Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TMC2-R123Khet unknown0.657Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TMC2-W217Rhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.994 (probably damaging)
0.5ATP7A-V767Lhet unknown0.254Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP7A-E1350Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-T3069Ihet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-A3012Phomozygous0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-M2988Vhet unknown0.069Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-M2927Thomozygous0.700Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRP2-I4210Lhomozygous0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5LRP2-K4094Ehomozygous0.799Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LRP2-V3999Ghet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LRP2-A2872Thet unknown0.240Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LRP2-R1037Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LRP2-A880Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LRP2-N83Shet unknown0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5TTN-E32484Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R32018Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R29962Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-I26820Thet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-I25199Vhet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-T24045Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R22371Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-A19840Phomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-V19783Ihet unknown0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-T18827Ihet unknown0.312Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-P17286Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R16903Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-N16125Dhet unknown0.322Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-K11752Ehet unknown0.080Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-I9278Vhet unknown0.329Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R8194Qhet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-N7559Shet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S7181Nhet unknown0.155Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-A7111Ehet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-E6900Ahet unknown0.150Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-D6218Hhet unknown0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S3419Nhomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-V3261Mhomozygous0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-K1201Ehet unknown0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R328Chet unknown0.088Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-I2587Vhet unknown0.450Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-T1855Ahet unknown0.310Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-I1386Vhet unknown0.691Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-G1252Rhet unknown0.690Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-D1192Ehet unknown0.790Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-F1152Chet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-A660Ghet unknown0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCA12-S777Thomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CTLA4-T17Ahomozygous0.371Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5CASP8-K14Rhomozygous0.671Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CASP8-D344Hhomozygous0.111Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ALS2-V368Mhomozygous0.859Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB59-R265Ghet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.645 (possibly damaging), Testable gene in GeneTests
0.5ABL1-S972Lhet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5DMD-R2937Qhomozygous0.957Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMD-R2155Whet unknown0.027Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.942 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DMD-R1745Hhet unknown0.336Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DMD-D882Ghet unknown0.650Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCA1-K1587Rhomozygous0.582Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KIAA1715-T159Shet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.426 (possibly damaging)
0.5TTC21A-R623Whet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TTC21A-R1056Lhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TTC21A-R1317Khomozygous0.531Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OBSL1-R1767Qhomozygous0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-Q1578Rhomozygous0.962Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-E1365Dhet unknown0.702Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-R723Khomozygous0.827Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-V1540Lhet unknown0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-E289Qhomozygous0.849Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-H752Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-R364Hhomozygous0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PANK2-G126Ahomozygous0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IGSF5-R49Thet unknown0.644Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5IGSF5-C289Rhet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.986 (probably damaging)
0.5IGSF5-D350Ehet unknown0.365Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HPS4-Q620Hhomozygous0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5HPS4-H601Yhomozygous0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-V547Mhomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-L438Vhet unknown0.375Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-E224Ghomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GGT1-G84Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5SULT1C4-D5Ehomozygous0.429Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ITGB2-Q354Hhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.543 (possibly damaging), Testable gene in GeneTests
0.5TMEM67-L437Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TMEM67-I604Vhomozygous0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KDM3A-I212Vhomozygous0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KDM3A-C417Fhet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5GGCX-R325Qhomozygous0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5ADRB3-W64Rhet unknown0.085Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FLNA-CD1353WGhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLNA-D908Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DYSF-E489Khet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PEX2-C184Rhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EP300-G211Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EP300-M289Vhet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EP300-I997Vhet unknown0.207Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FAM58A-Q15Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5CBR3-V244Mhomozygous0.400Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.014 (benign)
0.5ZC3H8-K287Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.375MYO3A-I348Vhet unknown0.680Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.375MYO3A-V369Ihet unknown0.661Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.375MYO3A-P1287Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375MYO3A-R1313Shet unknown0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375STXBP2-DVS298YVDhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375STXBP2-I526Vhet unknown0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375ATXN3-G306QRhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375ATXN3-G306QRhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375ATXN3-V212Mhet unknown0.276Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375ALMS1-S524SPhet unknown0.578Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375ALMS1-V671Ghet unknown0.881Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375ALMS1-S2574Nhet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375ALMS1-D2672Hhet unknown0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375ALMS1-N2944Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375ALMS1-R4029Khet unknown0.540Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375PLEC-EKA3684VSRhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375PLEC-S2791Phet unknown0.567Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL9A1-S339Phet unknown0.479Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PARK2-V380Lhet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25XIAP-Q423Phet unknown0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.053 (benign), Testable gene in GeneTests with associated GeneReview
0.25ALG9-V289Ihet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.907 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25TNFRSF1B-M196Rhet unknown0.232Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.986 (probably damaging)
0.25DLAT-A43Vhet unknown0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DLAT-V318Ahet unknown0.502Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DLAT-D451Nhet unknown0.280Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KAL1-V534Ihet unknown0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LCA5-G656Dhet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LCA5-L24Shet unknown0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25SMPD1-G508Rhet unknown0.200Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25F8-D1260Ehet unknown0.347Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ELOVL4-M299Vhet unknown0.150Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MUT-I671Vhet unknown0.608Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MUT-R532Hhet unknown0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATRX-Q929Ehet unknown0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25EYA4-G277Shet unknown0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25RSPH4A-L589Phet unknown0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDA-K27Qhet unknown0.262Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MYO7A-S1666Chet unknown0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SERPING1-V480Mhet unknown0.220Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.25EYS-L1748Fhet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-L1419Shomozygous0.759Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-L852Phomozygous0.642Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-G631Shomozygous0.517Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-T120Mhet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25LMBRD1-D469Ehet unknown0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25POLA2-G583Rhet unknown0.154Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.024 (benign)
0.25SOD2-V16Ahet unknown0.476Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC16A2-S107Phet unknown0.462Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LDLRAP1-S202Phet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.803 (possibly damaging), Testable gene in GeneTests
0.25F9-T194Ahet unknown0.233Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.25GARS-P42Ahet unknown0.744Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ARSE-G424Shet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25AGT-M268Thet unknown0.561Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DPAGT1-I393Vhet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25EPHX1-H139Rhet unknown0.248Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CLCN1-G118Whet unknown0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP6V0A4-V2Ahet unknown0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25IL6R-D358Ahet unknown0.316Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.911 (probably damaging)
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
0.25CFTR-V470Mhet unknown0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LMNA-L15Phet unknown0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LMNA-M174Thet unknown0.263Unknown
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
0.25NBN-E185Qhet unknown0.285Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FMO3-E158Khet unknown0.429Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FMO3-E308Ghet unknown0.137Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.141 (benign), Testable gene in GeneTests with associated GeneReview
0.25LHX4-N328Shet unknown0.406Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SFTPC-T138Nhet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SFTPC-S186Nhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NCF2-K181Rhet unknown0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PRG4-R180Whet unknown0.299Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.25PRG4-T604Ahet unknown0.300Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PRG4-C746Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NAT2-I114Thet unknown0.398Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NAT2-R268Khet unknown0.581Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CNGB3-T298Phet unknown0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview
0.25CNGB3-C234Whet unknown0.880Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ASAH1-V246Ahomozygous0.867Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ASAH1-I93Vhet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ASAH1-V72Mhet unknown0.424Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CFHR1-H157Yhet unknown0.305Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CFHR1-L159Vhet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CFHR1-E175Qhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RP1-R872Hhet unknown0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25RP1-N985Yhet unknown0.349Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.958 (probably damaging), Testable gene in GeneTests
0.25RP1-A1670Thet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25RP1-S1691Phet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25RP1-C2033Yhet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests
0.25SLC30A8-R325Whet unknown0.227Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25COL1A2-P549Ahet unknown0.798Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SCD-M224Lhet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25LEPR-K656Nhet unknown0.176Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.454 (possibly damaging), Testable gene in GeneTests
0.25CTH-S403Ihet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25LRP8-R952Qhet unknown0.290Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LRP8-D46Ehomozygous0.523Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PMS2-K541Ehet unknown0.874Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CYP4B1-R173Whet unknown0.149Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CYP4B1-D295Shifthet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25CYP4B1-M332Ihet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CYP4B1-R341Chet unknown0.114Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CYP4B1-R376Chet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RNH1-P170Lhet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.881 (probably damaging)
0.25ACADSB-R13Khet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.08 (benign), Testable gene in GeneTests
0.25SARDH-M648Vhet unknown0.519Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SARDH-R614Hhet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.057 (benign), Testable gene in GeneTests
0.25PLCE1-R1575Phet unknown0.476Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DBT-S384Ghet unknown0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FAM75D5-K40Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25FAM75D5-H96Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NGF-A35Vhet unknown0.370Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.123 (benign), Testable gene in GeneTests
0.25IFNA10-L112Ihet unknown0.171Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.946 (probably damaging)
0.25IFNA10-G33Rhet unknown0.210Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.25IFNA10-S31Thet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.186 (benign)
0.25IFNA10-C20*het unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.25ERCC6-R1230Phet unknown0.070Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25ERCC6-G399Dhet unknown0.161Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BAAT-R20Qhet unknown0.627Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.136 (benign), Testable gene in GeneTests
0.25ANXA11-R230Chet unknown0.341Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.25PDE6C-S270Thet unknown0.391Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL11A1-S1547Phet unknown0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL11A1-D46Ehet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LIPA-T16Phet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25BMPR1A-P2Thet unknown0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SH3TC2-A468Shet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25CETP-V422Ihet unknown0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC19A1-H27Rhet unknown0.504Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25PCNT-G704Ehomozygous0.894Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PCNT-V1038Ahomozygous0.883Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PCNT-A2551Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PCNT-Q2659Hhet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.849 (possibly damaging), Testable gene in GeneTests
0.25PCNT-Q2792Rhet unknown0.693Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.25PCNT-A2903Thet unknown0.060Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.085 (benign), Testable gene in GeneTests
0.25MAPT-P202Lhet unknown0.165Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25MAPT-D285Nhet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview
0.25MAPT-V289Ahet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MAPT-R370Whet unknown0.156Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25MAPT-S447Phet unknown0.166Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CYP2D6-T486Shet unknown0.409Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CYP2D6-C296Rhomozygous0.599Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CYP2D6-K281Delhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CYP2D6-H94Rhet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CYP2D6-L91Mhet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CYP2D6-P34Shet unknown0.187Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TRIOBP-A660Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TRIOBP-T817Shet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.16 (benign), Testable gene in GeneTests
0.25TRIOBP-H1300Rhet unknown0.624Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.25AXIN2-P50Shet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KCNE1-S38Ghet unknown0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25NPC1-M642Ihet unknown0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25C18orf45-W153*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25C18orf45-L131Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25GAA-H199Rhet unknown0.673Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GAA-R223Hhet unknown0.673Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GAA-V780Ihet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25IFNGR2-Q64Rhet unknown0.169Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests
0.25PCK1-V184Lhet unknown0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PNPLA3-G115Chet unknown0.142Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PNPLA3-I148Mhet unknown0.196Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.778 (possibly damaging)
0.25PNPLA3-K434Ehomozygous0.683Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25XPC-Q939Khet unknown0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GCSH-S21Lhet unknown0.751Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TAT-P15Shet unknown0.175Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25NQO1-P187Shet unknown0.197Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.215 (possibly damaging)
0.25HYLS1-C31Rhet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests
0.25CLCN2-T668Shet unknown0.594Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25HGD-Q80Hhet unknown0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25AIPL1-D90Hhet unknown0.165Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.029 (benign), Testable gene in GeneTests with associated GeneReview
0.25KRT10-G130GSFGGGhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KRT10-G130GSFGGGhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KRT10-I101Shomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KRT14-C63Yhet unknown0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FLNB-D1157Nhet unknown0.303Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25FLNB-V1471Mhet unknown0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.02 (benign), Testable gene in GeneTests with associated GeneReview
0.25MYO15A-A595Thet unknown0.338Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO15A-G598Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.25DRD3-G9Shet unknown0.533Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25LRRC48-R191Whet unknown0.349Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LRRC48-L440Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25DSG2-R773Khet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25TNFRSF11A-H141Yhet unknown0.126Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.909 (probably damaging), Testable gene in GeneTests
0.25TNFRSF11A-A192Vhet unknown0.550Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ZNF579-G366GGhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ZNF579-E353Dhet unknown0.205Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.08 (benign)
0.25ZNF579-N344Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NLRP7-V319Ihet unknown0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25ABCB11-V444Ahet unknown0.603Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25TMEM160-G120Shet unknown0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.866 (probably damaging)
0.25ITGA6-A380Thet unknown0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RAB3GAP1-N598Shet unknown0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GLI2-A1156Shet unknown0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GLI2-D1306Nhet unknown0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP6V1B1-T30Ihet unknown0.159Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MCEE-R104Lhet unknown0.189Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25MCEE-A76Vhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ABCG5-Q604Ehet unknown0.214Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.73 (possibly damaging), Testable gene in GeneTests
0.25MERTK-S118Nhet unknown0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MERTK-R466Khet unknown0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MERTK-I518Vhet unknown0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EIF2AK3-A704Shet unknown0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EIF2AK3-Q166Rhet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EIF2AK3-S136Chet unknown0.198Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25NEUROD1-T45Ahet unknown0.672Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AOX1-N1135Shet unknown0.174Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25COL4A3-G43Rhet unknown0.353Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A3-D326Yhet unknown0.169Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A3-P574Lhet unknown0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.25ZNF317-Q19Hhet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25ZNF317-Q19Hhet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25NDUFS7-P23Lhet unknown0.538Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25CD226-S307Ghet unknown0.451Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CTDP1-S61Ahet unknown0.659Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CTDP1-T340Mhet unknown0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.25COL4A4-S1400Phet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-V1327Mhet unknown0.445Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-P1004Lhet unknown0.516Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-P482Shet unknown0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PRKCSH-A291Thet unknown0.159Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25ATIC-T116Shet unknown0.248Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25CASP10-L522Ihet unknown0.439Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25IL12RB1-G378Rhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25IL12RB1-M365Thet unknown0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25IL12RB1-Q214Rhet unknown0.251Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25IL12RB1-R156Hhet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.029 (benign), Testable gene in GeneTests
0.25SPEG-E2330Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SPEG-P2687Thet unknown0.092Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MAN2B1-R337Qhet unknown0.373Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.027 (benign), Testable gene in GeneTests with associated GeneReview
0.25MAN2B1-L278Vhet unknown0.321Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC4A3-H157Phet unknown0.947Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SLC4A3-H157Phet unknown0.947Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SLC4A3-D867Ahomozygous0.674Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CLDN16-R55Shifthet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.25HSD17B4-R106Hhet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.547 (possibly damaging), Testable gene in GeneTests
0.25HSD17B4-I559Vhet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.111 (benign), Testable gene in GeneTests
0.25FREM2-S745Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FREM2-F1070Shet unknown0.438Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25B3GALTL-E370Khet unknown0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.25GRM6-Q59Phet unknown0.616Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ALDH5A1-H180Yhet unknown0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SGCG-N287Shet unknown0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SUCLA2-S199Thet unknown0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP7B-V1140Ahet unknown0.585Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP7B-R952Khet unknown0.575Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP7B-K832Rhet unknown0.555Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.461 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25BBS2-I123Vhet unknown0.196Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BBS2-S70Nhomozygous0.994Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FSHR-S680Nhet unknown0.556Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FSHR-A307Thet unknown0.451Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TCOF1-P1139Rhet unknown0.170Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LIG4-T9Ihet unknown0.130Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.966 (probably damaging)
0.25IRS2-G1057Dhet unknown0.233Unknown
protective
Low clinical importance,
uncertain
a.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).
0.25B4GALNT1-A516Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25B4GALNT1-L89Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25B4GALNT1-L35Vhet unknown0.229Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25KRT79-A496Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KRT79-L81Shet unknown0.650Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GYS2-M363Vhet unknown0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLCO1B1-N130Dhet unknown0.528Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLCO1B1-P155Thet unknown0.135Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TULP1-K261Nhet unknown0.844Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TULP1-I259Thet unknown0.366Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SNX19-L878Rhet unknown0.809Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SNX19-N753Shet unknown0.633Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SNX19-L618Fhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SNX19-V361Lhet unknown0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FGF23-T239Mhet unknown0.105Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25NM_004719-N1001Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NM_004719-R847Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PFKM-R100Qhet unknown0.171Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.01 (benign), Testable gene in GeneTests
0.25KRT6C-R182Qhet unknown0.402Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.805 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25TRIM15-S324Nhet unknown0.181Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KRT83-H493Yhet unknown0.751Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CDSN-N527Dhomozygous0.801Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDSN-L410Shet unknown0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDSN-F202Shet unknown0.264Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDSN-S153Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CDSN-N143Shomozygous0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CDSN-M18Lhet unknown0.188Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CELA1-L210Shifthet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25CELA1-M59Vhet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.24 (possibly damaging)
0.25CELA1-Y5Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CELA1-V3Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SLC22A4-I306Thet unknown0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25SLC22A4-L503Fhet unknown0.304Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ANK2-P2835Shet unknown0.148Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MANBA-T701Mhet unknown0.552Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MANBA-V253Ihet unknown0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25HADH-L86Phet unknown0.847Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FANCI-A86Vhet unknown0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FANCI-C742Shet unknown0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ARSB-V358Mhet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.117 (benign), Testable gene in GeneTests
0.25SLC28A1-V189Ihet unknown0.303Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC28A1-Q237Khet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25UGT2B7-Y268Hhet unknown0.207Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25UGT2B15-K523Thet unknown0.495Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25UGT2B15-Y85Dhet unknown0.508Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OPA1-S158Nhet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25NOD2-P268Shet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CD19-L174Vhet unknown0.768Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CPN2-V536Mhet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.935 (probably damaging), Testable gene in GeneTests
0.25CPN2-A305Thet unknown0.326Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.25SH2B1-T484Ahet unknown0.343Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ADAMTSL3-L290Vhet unknown0.849Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ADAMTSL3-V661Lhet unknown0.620Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TTBK2-L8Phet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CSPG4-R1842Qhet unknown0.114Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.695 (possibly damaging)
0.25CSPG4-R1703Hhet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.25CSPG4-S1307Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CAPN3-A236Thet unknown0.245Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DNAH5-I4450Vhet unknown0.528Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DNAH5-A4134Vhet unknown0.461Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DNAH5-L2862Fhet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.25DNAH5-I766Lhet unknown0.518Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.026 (benign), Testable gene in GeneTests with associated GeneReview
0.25DNAH5-T558Ahet unknown0.330Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.791 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25DNAH5-H12Qhet unknown0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SERPINA1-E400Dhet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25AMACR-E277Khet unknown0.756Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CDAN1-R891Chet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25CDAN1-Q596Rhet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDAN1-Q107Lhet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BBS12-R386Qhet unknown0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.25LOXL1-R141Lhet unknown0.256Complex/Other
benign
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.25LOXL1-G153Dhet unknown0.221Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.135 (benign)
0.25BBS4-I354Thet unknown0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MTRR-K377Rhet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MTRR-H622Yhet unknown0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TLR3-L412Fhet unknown0.213Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.991 (probably damaging)
0.125CYP4F2-V433Mhet unknown0.226Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.309 (possibly damaging)
0.125CYP4F2-W12Ghet unknown0.191Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0MEFV-R202Qhet unknown0.178Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.019 (benign), Testable gene in GeneTests with associated GeneReview
0AGXT-K12Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0ACAD8-S171Chet unknown0.018Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0ALG1-K223Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview

Input file format: CGIVAR

Genome build: b37

Genome coverage: 2,683,998,338 bases (94.8% of callable positions, 88.8% of total positions)

Coding region coverage: 31,511,900 bases (94.9% of all genes, 95.7% of genes with clinical testing available)

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

Gene search

"GENE" or "GENE A123C":

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