huA06085 - GET-Evidence variant report

Variant report for huA06085

Log file: 




VariantClinical
Importance
ImpactAllele
freq
Summary
1GNRHR-R139HHighLikelyLikely pathogenic

Recessive, Carrier (Heterozygous)
0.000092954Reported to cause hypogonadotropic hypogonadism in a recessive manner, and is reported by ClinVar where it has been reported by OMIM (http://www.ncbi.nlm.nih.gov/clinvar/RCV000030914/). This report comes from Costa et al 2001 (PMID: 11397871), who studied 14 familias and saw this homozygous in one patient. In ExAC data this is rare; 1 in 3000 are carriers for this variant.1
2KCNE1-D85NHighUncertainUncertain pathogenic

Unknown, Heterozygous
0.00873768Proposed to cause drug-induced long QT syndrome by one group. Another group suggests an association with noise-induced hearing loss. Neither study found a statistical significant association for this variant after multiple hypotheses are corrected for.1
3LRP5-V667MHighUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.0413646This variant has been implicated in causing osteoporosis-pseudoglioma syndrome in a recessive manner. The gene is strongly implicated in causing the disease, but an insufficient number of controls means this variant's observation lacks statistical significance. The condition manifests in childhood with early onset osteoporosis and eye problems.1
4SERPINA6-L115HModerateUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
Reported to cause corticosteroid deficiency in a recessive fashion, a disease which can cause fatigue after exertion. This variant was reported by Van Baelen et al 1982 (PMID: 7061486), and recorded in ClinVar by OMIM (http://www.ncbi.nlm.nih.gov/clinvar/RCV000018495/). Van Baelen et al described this variant as "transcortin Leuven", who reported the variant protein product had 3.6-fold reduced affinity for cortisol at 28C.1
5OPTN-M98KModerateUncertainUncertain pathogenic

Unknown, Heterozygous
0.0613497This variant was initially reported to be a risk factor for glaucoma, but subsequent reports have failed to find a statistically significant association. It may have a modifier effect, with carriers of the variant having lower intraocular pressure on average -- pressures that might be considered normal in other individuals would be abnormally high for carriers of this variant.1
6PPARG-P12AModerateUncertainUncertain not reviewed

Unknown, Heterozygous
0.08867821
7COL4A1-Q1334HLowLikelyLikely pathogenic

Dominant, Heterozygous
0.324689This common variant has been associated with arterial stiffness and, in Japanese, a small increased risk of myocardial infarction (MI, a.k.a. heart attack). This last observation supported a dominant effect for this variant and, assuming a lifetime risk of 15% for MI, we estimate carriers have an additional risk of 0.5-3%.1
8PIGR-A580VLowLikelyLikely pathogenic

Complex/Other, Heterozygous
0.247537In a Japanese study, this variant was associated with an increased risk for immunoglobulin A nephropathy (IgAN), a rare disease. The chances of having this disease, even with this variant, is less than 0.1%.1
9MTRR-I49MLowLikelyLikely pathogenic

Recessive, Carrier (Heterozygous)
0.451199This common variant (HapMap allele frequency of 31.3%) in a protein involved in folate (B9) and cobalamin (B12) metabolism and is often reported as "MTRR I22M" (an alternative transcript position). Mothers homozygous for this variant are associated with having around a increased chance of a child with Down syndrome (risk of 0.4%, average risk in population is 0.25%). Notably, age plays a far larger role in the rate of Down syndrome (risk is 4.5% for a mother 45-years-of-age), and it is unknown how this variant may combine with the effect of age. There are conflicting reports associating this variant with incidence of neural tube defects, possibly when combined with MTHFR A222V.1
10rs5186LowLikelyLikely 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
11MBL2-G54DLowLikelyLikely pathogenic

Recessive, Carrier (Heterozygous)
0.103923This variant is associated with mannose binding protein deficiency which leads to impaired complement system immune response to mannose-rich pathogens. Patients homozygous for this allele or compound heterozygous are likely to have increased susceptibility to infection, but Hellemann et al. report heterosis for intensive care outcomes in heterozygous subjects. The wild-type version of this gene is known as variant allele A, while this is called variant allele B. See R52C (variant D) and G57E (variant C).1
12CETP-A390PLowLikelyLikely pathogenic

Unknown, Heterozygous
0.0388548This variant is associated with slightly lower HDL (good) cholesterol, although it has a negligible effect (around 2 mg/dl).1
13RET-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
14TLR5-R392XLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.0439673This variant is believed to impair the ability to generate an immune response to the flagella of the bacteria. It is weakly associated with an increased incidence of Legionnaires' Disease, p = 0.085, increased lifetime risk of disease ~0.88% (about twice average). The variant is also weakly associated with a reduced incidence of systemic lupus erythematosus, p = 0.165.1
15LRP5-A1330VLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.110367In a study of a UK population this variant was associated with a small increased risk of osteoporosis and osteoporotic bone fractures, with each copy of the variant presumed to have an additive effect. A study in Chinese young men failed to find an association with peak bone density. 1
16TGIF1-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
17SP110-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
18ERCC6-R1213GLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.196877When homozygous, this variant may cause Cockayne Syndrome, which is a severe autosomal-recessive disorder characterized by abnormal early growth and development, abnormal sensitivity to sunlight, and premature aging. Cockayne Syndrome Type I and Type II lead to death in early childhood. Several other variants in the ERCC6 gene are linked to Cockayne Syndrome. This variant may also be linked to age-related macular degeneration like other ERCC6 variants, and has been linked to colorectal cancer in one study. 1
19BRCA2-N372HLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.23656This is a common variant of BRCA2 (HapMap allele frequency of 23%). The variant is weakly associated with an increased chance of breast cancer, and zygosity of the variant is associated with sex of children: male children are more likely to be homozygous for this variant, female children are more likely to be heterozygous.1
20TP53-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
21CYP2C9-R144CModerateWell-establishedWell-established pharmacogenetic

Unknown, Heterozygous
0.0970982This variant, also called CYP2C9*2, is a pharmacogenetic variant that modulates sensitivity for Warfarin (due to reduced metabolism). This variant is associated with Caucasians. The FDA has approved reduced recommended Warfarin dosage based on the presence of this variant.1
22TPMT-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
23TPMT-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
24ADRB2-T164ILowUncertainUncertain pharmacogenetic

Unknown, Heterozygous
0.0109686This rare variant in β2-Adrenoceptor has only reported heterozygously (in 2-4% of the population) and strongly decreases the protein’s responsiveness to inducing compounds (agonists). Carriers of this variant are less sensitive to induction of increased heart rate, heart contraction, and vasodilation by β-AR agonists. Mixed data suggests that this variant does not have a significant impact on hypertension or heart disease. It may affect responsiveness to beta blocker drugs.1
25FUT2-W154XModerateWell-establishedWell-established protective

Recessive, Homozygous
0.490519This recessive protective variant confers resistance to norovirus (which causes stomach flu). 20% of Caucasians and Africans are homozygous for this variant and are "non-secretors": they do not express ABO blood type antigens in their saliva or mucosal surfaces. Most strains of norovirus bind to these antigens in the gut, and so this non-secretor status confers almost total resistantance to most types of norovirus. There are notable exceptions, some strains of norovirus bind a different target and are equally infectious for secretors and non-secretors.1
26NPC1-H215RLowLikelyLikely protective

Complex/Other, Homozygous
0.295687This variant is associated with a reduced risk of obesity, with an additive effect of -0.084 BMI per allele (an average of 0.54 pounds less, per allele, in a 5'6" individual). 1
27KCNJ11-K23ELowLikelyLikely protective

Unknown, Heterozygous
0.738148This variant is associated with decreased risk of type 2 diabetes. It is unclear whether this variant has additive effects, or acts in a dominant or recessive manner. Assuming diabetes has a lifetime risk of 36%, we estimate a decreased risk of around 1-2% per copy of this variant.1
28IRS2-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
29DTNBP1-P272SLowUncertainUncertain protective

Recessive, Carrier (Heterozygous)
0.0351366Possibly a slight protective effect against colorectal cancer if homozygous.1
30TYR-R402QLowWell-establishedWell-established benign

Complex/Other, Heterozygous
0.204964This is a frequent pigmentation polymorphism in Europeans that affects function of the Tyrosinase gene. It is associated with blue instead of green eyes and sun sensitivity. For the most part this variant is benign, but many individuals with ocular albinism (which affects only the eyes) carry this variant along with another more severe variant in the same gene.1
31MEFV-K695RLowLikelyLikely benign

Unknown, Heterozygous
0.00185908Reported to cause Familial Mediterranean Fever in a recessive manner, recorded in ClinVar by OMIM and another clinical group (http://www.ncbi.nlm.nih.gov/clinvar/RCV000002656/). This report comes from Bernot et al 1998 (PMID: 9668175) who screened 120 patient chromosomes and report seeing this in 3 Jewish families. However, the variant is relatively common with 0.8% frequency in European ancestry. This strongly contradicts the reported effect, and the observation of Bernot et al is not statistically different from this population data.1
32NEFL-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
33RPGRIP1-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
34LOXL1-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
35DYNC2H1-Q304LLowUncertainUncertain benign

Unknown, Heterozygous
0.0484135Presumed benign.1
36PCSK9-G670ELowUncertainUncertain benign

Unknown, Homozygous
0.888269This variant is likely benign. 1
37GUCY2D-A52SLowUncertainUncertain benign

Recessive, Carrier (Heterozygous)
0.21016One publication suggested that this variant possibly causes Leber's congenital amaurosis in a recessive manner, but the frequency data (36% in 1000 genomes) contradicts any significant pathogenic effect.1
38F5-D2222GLowUncertainUncertain benign

Unknown, Heterozygous
0.0448968Other mutations in this gene are associated with Factor 5 deficiency. There is no literature implicating this variant, however, and it is fairly common in the population (3.8% in HapMap), and so it is currently labeled as benign.1
39F5-M413TLowUncertainUncertain benign

Unknown, Heterozygous
0.0580963Presumed benign. This variant is not particularly rare and has not been reported to cause disease.1
40RAPSN-R58CLowUncertainUncertain benign

Unknown, Heterozygous
0.0778026Reported as non-pathogenic polymorphism. 1
41RP1-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
42TERT-A279TLowUncertainUncertain benign

Unknown, Heterozygous
0.0200037Reported as a rare but probably nonpathogenic polymorphism occurring in controls as well as patients. Other defects in this gene are associated with telomere shortening which may cause aplastic anemia or dyskeratosis congenita.1
43TYR-S192YLowUncertainUncertain benign

Unknown, Heterozygous
0.270682This variant is reported to affect skin pigmentation. It is associated with lighter skin in South Asians (OR 4-5) and with a lack of freckles in Europeans (OR 1.3).1
44TAS2R38-A49PLowUncertainUncertain benign

Unknown, Heterozygous
0.431121This variant is strongly associated with causing the "taster" phenotype of phenylthiocarbamine (PTC) in a dominant manner.1
45TAS2R38-I296VLowUncertainUncertain benign

Unknown, Heterozygous
0.463376This variant is associated with "taster" status of PTC, along with 49P and 262A. Due to linkage disequilibrium, the independent effects of positions 296 and 262 is unclear. The presence of 49P confers taster status in a dominant fashion, but in the absence of 49P, the presence of 262A/296V is still positively associated with tasting PTC.1
46APOB-Y1422CLowUncertainUncertain benign

Unknown, Homozygous
0.999628This position is almost certainly an error in the HG18 reference sequence. 1
47SLC45A2-L374FLowUncertainUncertain benign

Unknown, Homozygous
0.691764Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma.1
48UNC13D-A59TLowUncertainUncertain benign

Unknown, Heterozygous
0.0171965Probably benign. This variant was reported to cause haemophagocytic lymphohistiocytosis in a recessive manner, but its allele frequency is inconsistent with this hypothesis and so we evaluate it as a nonpathogenic polymorphism.1
VariantPrioritization scoreAllele
freq
Num of
articles
Zygosity and Prioritization Score Reasons

Exome coverage: 32173197 / 33212919 = 96.87%

GeneChromosomeCoverageMissingLengthMissing regions
1AGRN10.6285434995112422806138955553-955753, 957603-957605, 957648, 957667, 957670, 957674-957676, 957686-957694, 957703-957717, 957756-957796, 957817-957835, 970671-970702, 976049-976063, 976074-976124, 976159-976260, 976561, 976580-976705, 976724, 976738, 976748-976757, 976876-976877, 976912-976919, 976977-977001, 977072-977082, 977458, 977461-977463, 977466, 977470, 977484, 977491, 978663-978697, 978722-978766, 978781, 978785-978787, 978926-978927, 978953-978976, 979007, 979015, 979065-979096, 979295-979344, 979354-979395, 979744, 980570-980577, 980582-980583, 980586-980606, 980618, 980642, 980765, 980883, 980891, 981344-981362, 981385, 981613, 981777-981789, 981805-981817, 981827, 981830-981832, 981843, 981847-981848, 981877-981913, 981931-981956, 981964-981965, 981978-982002, 982031-982036, 982089-982115, 982200-982260, 982282-982318, 982728, 982778, 982783, 982797-982798, 982969-982994, 982999, 983050, 983168-983187, 983196-983201, 983210-983250, 983392-983434, 983477-983550, 983559-983566, 983578-983745, 984247-984352, 984359-984391, 984432, 984616-984649, 984661-984669, 984680-984720, 984729-984750, 984806-984822, 984946-984957, 984999-985005, 985008, 985069-985073, 985102, 985114-985115, 985134-985135, 985153-985175, 985312-985338, 985372-985417, 985613-985616, 985651-985666, 985876-985904, 985952-985953, 986128-986164, 986178-986196, 986199, 986209-986211, 986661-986691, 986707-986746, 986833-986879, 986910-986917, 987108, 987193, 989215, 989340-989354, 990261, 990280, 990294-990298, 990336
2GABRD10.7314201618837436513591950863-1950893, 1950906-1950930, 1956837, 1956957-1956982, 1956998-1956999, 1957018, 1957114-1957157, 1959031-1959036, 1959719-1959725, 1960569-1960600, 1960634-1960638, 1960674, 1960676-1960689, 1960990-1961010, 1961046-1961095, 1961122-1961128, 1961183-1961187, 1961422-1961438, 1961448-1961449, 1961461-1961491, 1961500-1961504, 1961523-1961526, 1961557, 1961582-1961588, 1961648-1961652, 1961656, 1961675-1961688
3PEX1010.847094801223241509812337923-2337938, 2337946-2337947, 2337958-2337961, 2337966, 2337971, 2338287, 2339998, 2340008-2340039, 2343830-2343899, 2343920-2343941
4NPHP410.9661294090165814542816027368, 6038330-6038473
5ESPN10.6740740740740783625656485016-6485309, 6488304, 6488322, 6488325, 6488333, 6488378-6488392, 6488426-6488432, 6488459-6488479, 6500376-6500419, 6500432, 6500452, 6500466-6500471, 6500485, 6500706, 6500712, 6500738-6500779, 6500830-6500868, 6505732-6505738, 6505776-6505798, 6505814-6505860, 6505906-6505907, 6505915-6505917, 6508701-6508705, 6508727-6508766, 6508828-6508857, 6508885, 6508925, 6508957-6508988, 6509016-6509060, 6509072-6509106, 6509142, 6511680, 6511687, 6511693, 6511907-6511942, 6512106-6512133, 6517244-6517263
6PLEKHG510.983066792097845431896528120, 6528323, 6528546, 6529183-6529185, 6529713, 6529717, 6530333, 6530356, 6530846, 6531590, 6532618-6532635, 6533404-6533415, 6534626-6534629, 6535125, 6537680, 6537683, 6556587, 6557380-6557383
7PEX1410.9841269841269818113410684439-10684456
8TARDBP10.994377510040167124511082356-11082362
9MASP210.9757399320718150206111102961-11102980, 11103076-11103077, 11103399-11103400, 11103535, 11103545, 11103550, 11105498-11105504, 11105507-11105514, 11105593, 11106783, 11107065, 11107260-11107264
10MTHFR10.997970573313044197111853981, 11854853-11854855
11CLCNKA10.9801356589147341206416353256-16353257, 16356460-16356463, 16356466, 16356967-16357000
12CLCNKB10.9893410852713222206416377490, 16378745-16378747, 16378751, 16378804, 16382223-16382231, 16382973-16382979
13ATP13A210.9946373130115719354317313601-17313615, 17322545-17322546, 17322550, 17326570
14HSPG210.991044323011541181317622186064-22186066, 22191454, 22199150-22199156, 22199490-22199529, 22207917-22207918, 22211158-22211159, 22263648-22263710
15WNT410.9270833333333377105622469339-22469415
16FUCA110.9750178443968635140124194454-24194456, 24194675, 24194706-24194735, 24194748
17SEPN110.89028776978417183166826126722-26126904
18KCNQ410.9568965517241490208841249784, 41249804-41249817, 41249851-41249899, 41249906, 41249945-41249961, 41250034-41250041
19PCSK910.9942279942279912207955521674-55521685
20LEPR10.9857061177815950349866058402-66058451
21ACADM10.999217527386541127876205754
22COL11A110.98827194429174645457103354428, 103363691-103363692, 103363696, 103363718, 103364232-103364266, 103364296-103364299, 103364497-103364499, 103364507, 103364535-103364550
23GSTM110.66666666666667219657110230496-110230531, 110230795, 110230839, 110230854, 110231295-110231305, 110231691, 110231721, 110231724-110231726, 110231737-110231745, 110231750-110231751, 110231855, 110231880-110231947, 110232908-110232910, 110232977-110232988, 110233076-110233141, 110233173, 110233178, 110235917
24NOTCH210.98813376483279887416120539668, 120539687, 120539691, 120539711, 120539778-120539784, 120539933-120539955, 120548091-120548097, 120572544-120572575, 120572609-120572610, 120611960, 120611964, 120611999-120612009
25FLG10.998358772361732012186152278431-152278437, 152279403-152279409, 152280471, 152281290, 152283097, 152284424-152284426
26HAX110.9714285714285724840154245860-154245883
27PKLR10.99246376811594131725155269981-155269993
28SEMA4A10.9982502187226642286156131157-156131158, 156131161, 156131169
29NTRK110.9962358845671392391156830728-156830736
30F510.9995505617977536675169510348, 169510483, 169510524
31DARS210.9994840041279711938173808511
32HMCN110.99988171279868216908185892784-185892785
33CFH10.9981060606060673696196716389-196716395
34CFHR110.997985901309162993196801042, 196801078
35CFHR510.9994152046783611710196967366
36GJC210.840151515151522111320228345603, 228345643-228345648, 228345713-228345720, 228345951, 228346031-228346056, 228346239-228346257, 228346290-228346334, 228346346, 228346355, 228346361-228346398, 228346407, 228346424-228346450, 228346466, 228346469, 228346474, 228346478, 228346531-228346560, 228346722, 228346751-228346752
37ACTA110.97795414462081251134229567777, 229568041-229568043, 229568085-229568086, 229568159-229568177
38RYR210.99818840579712714904237821262-237821287, 237821318
39OPTN100.997116493656295173413151244-13151248
40DCLRE1C100.9995189995191207914981868
41CUBN100.9998160412067721087216979715, 17145231
42PTF1A100.983789260385011698723481661-23481668, 23481679, 23481695-23481696, 23481757-23481761
43PDSS1100.997596153846153124827009244-27009246
44RET100.9781763826606973334543572707-43572779
45PRF1100.999400479616311166872358263
46CDH23100.9991050119331791005673464770, 73464887, 73537499-73537505
47LDB3100.9569597069597194218488441321-88441330, 88476113, 88476116-88476129, 88476143-88476199, 88476211-88476220, 88476443, 88476446
48GLUD1100.998211091234353167788854453, 88854458, 88854462
49PTEN100.99834983498352121289720651-89720652
50HPS1100.9995251661918312106100177375
51FBXW4100.9911218724778111239103454327-103454333, 103454358-103454360, 103454375
52SUFU100.9965635738831651455104264087-104264091
53HTRA1100.94663894663895771443124221194, 124221198-124221199, 124221202-124221247, 124221344-124221371
54HRAS110.998245614035091570532711
55TALDO1110.96646942800789341014747492, 747562-747564, 747567-747576, 763396-763415
56SLC25A22110.78497942386831209972792024-792052, 792196-792205, 792337, 792347, 792359, 792430-792447, 792562-792563, 792579-792615, 792632-792666, 792676-792704, 792712-792715, 792725-792727, 792875-792877, 792896-792913, 792970-792974, 794509-794511, 794776-794778, 794800-794806
57PNPLA2110.908250825082511391515819719-819760, 819787, 819794-819808, 819837, 819862-819905, 821738, 823789-823791, 824012-824016, 824020-824033, 824523-824528, 824633, 824785-824789, 824841
58CTSD110.939467312348677512391775367-1775368, 1778580-1778585, 1778590-1778592, 1780199-1780201, 1785022-1785024, 1785032-1785089
59TNNI2110.94353369763206315491861770-1861794, 1862370-1862375
60TNNT3110.437580437580444377771944785-1944786, 1946329-1946346, 1951040-1951051, 1953707-1953724, 1954951-1954970, 1954979-1954987, 1954994-1955044, 1955048, 1955051-1955067, 1955161-1955206, 1955225-1955238, 1955575-1955666, 1955788-1955790, 1955794, 1955799, 1955814-1955844, 1955869-1955885, 1956061-1956063, 1956117-1956133, 1958193-1958213, 1958219-1958226, 1958232-1958233, 1959668-1959699, 1959722
61IGF2110.516174402250353447112154219-2154237, 2154249-2154257, 2154261, 2154266-2154272, 2154276-2154278, 2154292, 2154295, 2154298-2154303, 2154306-2154324, 2154336-2154422, 2154433-2154446, 2154759-2154784, 2154806-2154812, 2154833, 2154855, 2154882-2154895, 2156627-2156655, 2156668, 2156674, 2156707, 2156720-2156759, 2161406-2161443, 2161495, 2161502, 2161511-2161526
62TH110.7441269841269840315752185463-2185464, 2185471, 2185605-2185612, 2185619, 2186479-2186505, 2186509, 2186534-2186571, 2186595, 2186959-2186993, 2187251-2187276, 2187710-2187724, 2187742-2187779, 2187869, 2187872-2187874, 2187885-2187886, 2187910-2187917, 2187931-2187998, 2188151-2188200, 2188226-2188233, 2188238, 2188249-2188262, 2189741, 2190989, 2191018, 2191023-2191027, 2191920-2191966
63KCNQ1110.9286065977351114520312466329-2466383, 2466398, 2466458-2466475, 2466484, 2466508, 2466523-2466545, 2466568-2466570, 2466584-2466586, 2466596-2466598, 2466601-2466602, 2466616, 2466641-2466659, 2593323-2593336, 2790119
64CDKN1C110.334384858044166339512905900-2906525, 2906543, 2906572, 2906582, 2906586, 2906593, 2906599-2906600
65HBD110.9842342342342374445255652-5255658
66SMPD1110.99947257383966118966411935
67ABCC8110.998525073746317474617498293-17498299
68ANO5110.996353026987610274222276995-22276996, 22277007, 22277033-22277039
69WT1110.9909909909909914155432449508-32449509, 32456688-32456689, 32456694-32456703
70PEX16110.991354466858799104145939260-45939267, 45939282
71F2110.997324772605675186946747620-46747623, 46749588
72MYBPC3110.9955555555555617382547367880, 47372078, 47372127-47372138, 47372985-47372987
73NDUFS3110.99119496855346779547600855-47600861
74BSCL2110.999280057595391138962472937
75SLC22A12110.89109506618532181166264359098-64359112, 64360271, 64360274, 64360284-64360286, 64360347, 64360928-64360940, 64361026, 64361029, 64361122, 64361127-64361131, 64361194-64361232, 64366009-64366010, 64366300-64366302, 64367163-64367176, 64367220-64367223, 64367242-64367289, 64367334-64367362
76SPTBN2110.9983270598076112717366468007, 66468753, 66473301-66473303, 66475124, 66475244, 66475250-66475253, 66478467
77PC110.999717274526431353766617542
78CABP4110.971014492753622482867223077-67223099, 67223659
79AIP110.7895266868076520999367256763-67256772, 67256819, 67257547, 67257582-67257585, 67257596, 67257600-67257601, 67257608-67257609, 67257632-67257639, 67257787-67257798, 67257805-67257850, 67257852-67257853, 67257860, 67257866-67257873, 67257915-67257926, 67258288-67258335, 67258339, 67258355-67258361, 67258368-67258374, 67258380-67258414, 67258445
80NDUFS8110.914691943127965463367799780-67799784, 67799791, 67800415-67800438, 67800464, 67800672-67800680, 67803799-67803800, 67803972-67803982, 67804014
81TCIRG1110.91255515443241218249367808854, 67809221, 67809283, 67810133, 67810167-67810169, 67810175, 67810200-67810203, 67810248-67810258, 67810280-67810281, 67810288, 67810292-67810314, 67810470-67810472, 67810475-67810482, 67810856, 67810931, 67810934, 67811086-67811090, 67811303-67811316, 67811354, 67811723, 67811779-67811787, 67815114-67815115, 67816402-67816404, 67816454-67816455, 67816577, 67816724-67816733, 67816738-67816739, 67817140-67817184, 67817233-67817238, 67817604-67817628, 67817710-67817715, 67817966-67817979, 67818079-67818086, 67818131
82LRP5110.96039603960396192484868080183-68080253, 68131385-68131388, 68131397, 68174251-68174253, 68177382, 68177385-68177390, 68177510, 68192579-68192581, 68207347-68207384, 68216335-68216356, 68216432-68216473
83CPT1A110.999569336778641232268562371
84IGHMBP2110.999664654594231298268671477
85MYO7A110.780836341756921457664876853840, 76858915, 76867792-76867794, 76868022-76868029, 76873356-76873359, 76873926-76873941, 76874014-76874015, 76883794-76883807, 76883839-76883859, 76883926-76883931, 76885807-76885927, 76885934-76885936, 76885950-76885960, 76886418-76886502, 76886510, 76888595-76888689, 76890091-76890175, 76890781-76890999, 76891420-76891527, 76892426-76892460, 76892466-76892635, 76892997-76893096, 76893122-76893165, 76893176-76893185, 76893469-76893645, 76894117-76894138, 76894160-76894177, 76894188, 76895706-76895745, 76900402-76900413, 76901801-76901809, 76903250-76903262, 76912646-76912647
86DRD2110.9992492492492511332113283314
87TECTA110.9992266047950556465120984388-120984392
88CACNA1C120.996494436823652365612676755-2676770, 2794934-2794940
89VWF120.9836531627576413884426122647-6122650, 6125328-6125344, 6125722-6125728, 6125816, 6127532-6127538, 6127655-6127661, 6128064-6128087, 6128170, 6128342, 6128449-6128451, 6131926-6131932, 6131955-6131982, 6132003-6132033
90ATN1120.974811083123439035737045888-7045942, 7046131-7046165
91ABCC9120.999784946236561465022025633
92KRAS120.9859649122807857025380284-25380291
93LRRK2120.9948575949367139758440761446-40761460, 40761501-40761524
94IRAK4120.9862617498192319138344180324-44180342
95COL2A1120.999551971326162446448377870-48377871
96MLL2120.9989767665824171661449424132-49424133, 49426624-49426626, 49426730-49426732, 49426913-49426914, 49427266-49427268, 49431291-49431294
97DHH120.999160369437451119149483800
98TUBA1A120.912280701754394045649522258-49522290, 49522386, 49522445, 49522457, 49522468, 49522575, 49522585, 49522624
99KRT81120.994729907773398151852682999-52683005, 52684040
100KRT86120.999315537303221146152697952
101KRT6B120.9657817109144558169552843632-52843637, 52845432-52845438, 52845571-52845608, 52845798-52845804
102KRT6C120.9870206489675522169552865295-52865300, 52867094, 52867105, 52867230-52867236, 52867457-52867463
103KRT6A120.99528023598828169552884735, 52886908-52886914
104LEMD3120.999634502923981273665563625
105CEP290120.999865591397851744088480187
106MYL2120.996007984031942501111348881-111348882
107ATXN2120.894216133942164173942112036613-112036827, 112036848-112036855, 112036911-112036933, 112036938-112036958, 112036969-112036982, 112036985-112037018, 112037021-112037056, 112037058, 112037070-112037083, 112037097-112037112, 112037131, 112037197-112037222, 112037273-112037280
108HNF1A120.99314345991561131896121434199-121434200, 121434353-121434360, 121437382, 121437407-121437408
109HPD120.9974619289340131182122295333-122295335
110PUS1120.9976635514018731284132414278-132414280
111B3GALTL130.9899799599198415149731774236-31774237, 31774252-31774254, 31774257, 31774263-31774271
112BRCA2130.9998050112118621025732903625-32903626
113FREM2130.999579390115674951039261568-39261570, 39261910
114ZIC2130.932457786116321081599100634394-100634396, 100634402, 100634408-100634410, 100635008-100635010, 100637687-100637702, 100637745-100637752, 100637806, 100637817-100637853, 100637867, 100637880-100637900, 100637923-100637936
115COL4A1130.99740518962076135010110959333-110959345
116F7130.526591760299636321335113760158-113760206, 113765004-113765019, 113765023-113765024, 113765038-113765057, 113765076, 113765086-113765164, 113768269-113768274, 113769974-113770010, 113770029, 113770035-113770048, 113770053-113770065, 113770075-113770081, 113770088-113770114, 113771096-113771104, 113771171-113771172, 113771809-113771830, 113771904-113771910, 113772727-113772740, 113772754, 113772767-113772769, 113772772-113772777, 113772802-113772818, 113772831, 113772835-113772864, 113772879, 113772882-113772883, 113772887-113772902, 113772915, 113772927-113772970, 113772997-113773003, 113773010-113773039, 113773060-113773072, 113773136, 113773168-113773193, 113773205-113773282, 113773294-113773322
117F10130.98636673483299201467113777180-113777182, 113777209-113777216, 113777221-113777223, 113798402-113798406, 113803572
118PABPN1140.99674267100977392123790681-23790683
119MYH6140.9972508591065316582023869539-23869554
120MYH7140.99913911845735580823894010-23894014
121TGM1140.9955175224123911245424723948, 24724312-24724317, 24724437, 24728941-24728943
122FOXG1140.84829931972789223147029236634, 29236683-29236725, 29236733-29236738, 29236748-29236752, 29236761-29236860, 29236876-29236877, 29236883-29236886, 29236895, 29236902-29236909, 29236912-29236958, 29236961-29236962, 29236986, 29236990-29236992
123NKX2-1140.9867330016583716120636986877, 36988378-36988392
124FANCM140.999674638034812614745623962, 45623968
125TTC8140.996124031007756154889305854, 89310181-89310185
126ATXN3140.9871086556169414108692537327-92537340
127VRK1140.999160369437451119197304147
128AMN140.1930983847283410991362103389026-103389031, 103389043-103389068, 103390065, 103390086-103390125, 103390134, 103390138-103390139, 103390144, 103390147-103390159, 103390292-103390297, 103394763-103394780, 103394790-103394822, 103394830-103394850, 103395095-103395232, 103395239-103395312, 103395458-103395584, 103395765-103395773, 103395786-103395788, 103395795-103395805, 103395846-103395873, 103395992-103396000, 103396014, 103396043-103396074, 103396261-103396423, 103396502-103396664, 103396743-103396830, 103396913-103396953, 103396974-103397017
129INF2140.7202666666666710493750105167713, 105167716, 105167768, 105167853, 105167947-105167992, 105169648, 105169707-105169714, 105169766-105169781, 105170253-105170286, 105172377-105172391, 105172396-105172397, 105172426, 105173671-105173714, 105173720-105173801, 105173809-105173834, 105173851-105173880, 105173908-105174149, 105174175-105174192, 105174198-105174222, 105174243-105174258, 105174271, 105174309, 105174315-105174339, 105174782-105174787, 105174834-105174837, 105174882-105174908, 105174917-105174924, 105176027, 105176430, 105176435-105176436, 105176498, 105176523-105176525, 105177274-105177281, 105177310-105177344, 105177433, 105177454-105177523, 105178006-105178018, 105178021-105178022, 105178770-105178787, 105178838, 105179165-105179180, 105179258-105179285, 105179574, 105179579, 105179582-105179583, 105179587-105179599, 105179611-105179613, 105179625-105179643, 105179782-105179789, 105179855, 105179862, 105179923-105179943, 105180556, 105180565, 105180619, 105180638, 105180649-105180651, 105180656-105180657, 105180729-105180748, 105180760, 105180921, 105180953-105180980, 105180992-105181024, 105181029, 105181051-105181052, 105181092, 105181097
130NIPA1150.8202020202020217899023086234-23086411
131SPRED1150.999250936329591133538614525
132CHST14150.9628647214854142113140763451-40763482, 40763501-40763503, 40763517, 40763530, 40763582-40763585, 40763811
133STRC150.9853603603603678532843906394-43906427, 43910863-43910906
134DUOX2150.999784807402631464745403589
135CLN6150.99358974358974693668500486-68500491
136HCN4150.9784053156146278361273614893-73614895, 73660180, 73660215-73660216, 73660330-73660370, 73660427-73660457
137MPI150.997641509433963127275182892-75182894
138PSTPIP1150.2501998401279938125177310489-77310569, 77310586-77310589, 77310798-77310803, 77310815-77310821, 77310833-77310872, 77317625-77317626, 77317633-77317659, 77317839-77317854, 77317898-77317914, 77317919, 77320254, 77320895-77320925, 77320930, 77320949-77320982, 77321879-77321880, 77321891, 77321894-77321900, 77321914, 77322843-77322922, 77323521, 77323538-77323619, 77324639-77324701, 77324716-77324735, 77325203-77325293, 77327849-77327904, 77328143-77328276, 77329386-77329517
139POLG150.997580645161299372089876828-89876836
140MESP2150.974874371859330119490319838-90319860, 90320146, 90320149, 90320159-90320161, 90320221-90320222
141BLM150.9847202632816265425491328231, 91337397-91337402, 91337459-91337479, 91337505-91337515, 91337536, 91337540-91337548, 91337572-91337587
142IGF1R150.999756335282651410499192891
143HBZ160.8065268065268183429202912, 203901, 204000, 204048-204050, 204055, 204063-204092, 204281-204315, 204372-204382
144HBA2160.9976689976691429223495
145GNPTG160.96514161220044329181401967-1401983, 1402010-1402018, 1402283-1402284, 1402289-1402292
146CLCN7160.7857733664185351824181497017-1497061, 1497082-1497086, 1497395, 1497421-1497430, 1497436-1497493, 1497528-1497552, 1497656-1497682, 1498762-1498767, 1498979-1499072, 1499277-1499297, 1500531, 1500534, 1500554, 1500593-1500635, 1500645-1500667, 1505171, 1506151, 1506165-1506207, 1509125-1509136, 1509175-1509187, 1524835-1524840, 1524873-1524944, 1524967-1524975
147IGFALS160.8757763975155324019321840613-1840647, 1840656-1840663, 1840691-1840716, 1840878-1840916, 1840963-1840970, 1841040-1841052, 1841156-1841170, 1841213-1841215, 1841223-1841229, 1841270, 1841306-1841324, 1841459-1841460, 1841524-1841530, 1841535-1841544, 1841623-1841646, 1841899-1841905, 1842015-1842020, 1842199-1842200, 1842209, 1842387-1842391, 1842446-1842447
148GFER160.65048543689322166182034220-2034233, 2034237, 2034273-2034362, 2034374-2034432, 2034441-2034456, 2034461-2034470, 2034748-2034752, 2034772-2034784, 2034897, 2034913, 2035917, 2035921-2035924, 2035929
149TSC2160.51659292035398262254242098712-2098722, 2103446-2103451, 2108788, 2110713, 2110777-2110807, 2112980, 2113021-2113025, 2114378-2114379, 2115625-2115636, 2120488, 2120548, 2120551-2120569, 2121524, 2121543-2121544, 2121584-2121585, 2121608, 2121611-2121617, 2121813-2121820, 2121841-2121888, 2121901-2121922, 2122242-2122261, 2122336, 2122344-2122362, 2122907, 2122937-2122971, 2124279-2124310, 2124332, 2124340-2124390, 2125800-2125802, 2125806-2125808, 2126070-2126104, 2126137, 2126140, 2126146-2126150, 2126154-2126159, 2126499-2126510, 2126568-2126586, 2127599, 2127638-2127639, 2127645, 2127651-2127652, 2127666, 2127690, 2127701-2127727, 2129033-2129101, 2129159-2129197, 2129278-2129333, 2129337, 2129357-2129401, 2129411, 2129424-2129429, 2129558-2129559, 2129567-2129659, 2130166-2130377, 2131612-2131799, 2132437-2132438, 2132448-2132478, 2132500-2132505, 2133696-2133771, 2133780-2133785, 2133788-2133817, 2134229-2134279, 2134285-2134459, 2134478-2134484, 2134489, 2134512-2134515, 2134519-2134639, 2134646-2134711, 2134961-2135027, 2135242-2135323, 2136194-2136380, 2136733-2136872, 2137864-2137942, 2138049-2138140, 2138234-2138307, 2138309, 2138318-2138326, 2138447-2138502, 2138527-2138611
150PKD1160.01246902106567512751129122139728-2139983, 2139992-2140195, 2140286-2140447, 2140459-2140591, 2140675-2140809, 2140885-2141175, 2141424-2141598, 2141782-2141907, 2142048-2142071, 2142080-2142161, 2142170-2142184, 2142188, 2142483-2142593, 2142955-2142991, 2143005-2143066, 2143078-2143094, 2143545-2143556, 2143570-2143666, 2143687-2143693, 2143701, 2143704-2143714, 2143717-2143734, 2143812-2144014, 2144093-2144156, 2144167-2144201, 2147149-2147236, 2147320-2147489, 2147729-2147781, 2147869-2147985, 2149645-2149771, 2149862-2150072, 2150167-2150310, 2150397-2150567, 2152062-2152257, 2152382-2152634, 2152815-2152971, 2153267-2153896, 2154499-2154643, 2155323-2155475, 2155866-2156025, 2156092-2156305, 2156399-2156678, 2156806-2156949, 2157884-2158033, 2158253-2161872, 2162341-2162474, 2162789-2162964, 2163162-2163293, 2164171-2164926, 2165379-2165626, 2165993-2166119, 2166530-2166645, 2166834-2167054, 2167490-2167673, 2167792-2168463, 2168677-2168820, 2168827-2168846, 2169115-2169186, 2169308-2169379, 2185476-2185690
151ABCA3160.988660801564035851152328299-2328301, 2331423, 2333187-2333221, 2334345-2334361, 2334976, 2349407
152MEFV160.99914748508099223463306357-3306358
153GLIS2160.4863492063492180915754382302, 4382412, 4382425, 4383390-4383393, 4383464, 4383471, 4383474-4383479, 4383513, 4384802-4384859, 4384895-4384924, 4384935-4384978, 4385088, 4385124, 4385138-4385166, 4385183-4385185, 4385189-4385194, 4385334-4385374, 4385387-4385394, 4386726-4386748, 4386774, 4386806-4386833, 4386840-4386841, 4386880-4387111, 4387121-4387173, 4387197-4387224, 4387236-4387283, 4387299-4387303, 4387315-4387317, 4387321, 4387337-4387338, 4387349, 4387356, 4387359, 4387364-4387504, 4387515, 4387521
154ALG1160.8867383512544815813955121896, 5128797-5128803, 5128835-5128839, 5128853-5128870, 5129065-5129076, 5130962-5131008, 5131015-5131041, 5132633-5132663, 5134818, 5134874-5134882
155ABCC6160.92575354609929335451216255312-16255313, 16256965-16257002, 16257039-16257045, 16259481-16259519, 16259527-16259532, 16259541-16259552, 16259578-16259588, 16259638, 16259642-16259644, 16259676, 16263518-16263566, 16263617-16263651, 16263667, 16263670, 16263700-16263710, 16267141-16267175, 16267199, 16267203-16267205, 16269796-16269824, 16271423-16271443, 16271457, 16271479, 16272754-16272760, 16276429-16276432, 16276700-16276706, 16276713-16276720, 16291953
156CLN3160.997722095671983131728497673-28497675
157ATP2A1160.999667332002661300628893878
158FUS160.999367488931061158131195686
159CYLD160.999650593990221286250826565
160SALL1160.999748427672961397551175658
161MMP2160.999495713565311198355513392
162SLC12A3160.9957969608794113309356901106-56901112, 56911998-56911999, 56913015-56913018
163HSD11B2160.88916256157635135121867465152-67465228, 67465244-67465300, 67465395
164LCAT160.9909297052154212132367973937, 67974038, 67974102, 67976397, 67976416, 67976443, 67976784, 67976787, 67976978-67976980, 67976994
165CDH3160.997991967871495249068725807, 68725825-68725828
166CDH1160.998867497168743264968771348-68771350
167COG8160.94399129961936103183969364771-69364813, 69364829-69364831, 69373079, 69373128, 69373184, 69373212, 69373215, 69373219-69373241, 69373244, 69373269-69373270, 69373394-69373419
168HP160.9991809991811122172092158
169GCSH160.906130268199234952281124272, 81129795-81129826, 81129866-81129881
170MLYCD160.9689608636977146148283932836-83932842, 83932875-83932882, 83932992-83932993, 83932997, 83933097-83933122, 83933158-83933159
171FOXF1160.985964912280716114086544223-86544238
172FOXC2160.93293492695883101150686601549, 86601552, 86601557, 86601612-86601619, 86601625-86601672, 86601708, 86601787-86601794, 86601864, 86601868-86601876, 86601987-86602009
173JPH3160.95549621717846100224787636882, 87723375, 87723496-87723506, 87723526-87723530, 87723534-87723562, 87723959-87723980, 87724001-87724031
174CYBA160.6394557823129321258888709761-88709779, 88709797-88709874, 88709897-88709904, 88709910-88709911, 88709919, 88709925, 88709935-88709979, 88712579-88712590, 88713190-88713196, 88713236-88713237, 88713558-88713564, 88714512, 88714517-88714522, 88717364-88717379, 88717386, 88717408, 88717416-88717418, 88717420-88717421
175APRT160.6850828729281817154388876175-88876210, 88876497-88876501, 88876547-88876548, 88876552, 88876855-88876859, 88876902-88876905, 88877968-88877988, 88877996, 88878030-88878064, 88878230-88878286, 88878304-88878307
176GALNS160.80178457616316311156988880887, 88884427-88884513, 88888997-88889001, 88889031, 88889035, 88889090-88889104, 88891193-88891199, 88891251-88891257, 88893140-88893154, 88902249, 88907418-88907453, 88908305, 88909125-88909174, 88923166-88923217, 88923240-88923271
177SPG7160.9945561139028513238889619537-89619541, 89623469-89623475, 89623479
178FANCA160.9835164835164872436889805068, 89805086, 89805097-89805107, 89805114-89805116, 89806444-89806445, 89816143, 89837008-89837011, 89838108, 89842157-89842177, 89882976-89883002
179TUBB3160.9504804138950567135389989858-89989866, 89998986-89998987, 89998990-89998991, 90001444, 90001447, 90001450, 90001731-90001732, 90001736-90001737, 90001744-90001745, 90001794-90001795, 90001800, 90001908-90001938, 90002185-90002195
180CTNS170.99334995843724812033559793-3559795, 3559802, 3559845-3559848
181CHRNE170.99392712550607914824802317-4802319, 4802323-4802326, 4804193, 4804431
182PITPNM3170.971965811965818229256358688-6358726, 6358738, 6358741, 6358782-6358799, 6374498, 6459705-6459726
183ACADVL170.993902439024391219687123441-7123452
184CHRNB1170.99667994687915515067348466-7348470
185RAI1170.9924838314979943572117697094-17697096, 17697608-17697609, 17697615-17697618, 17698281-17698287, 17698864-17698868, 17712732-17712753
186MYO15A170.907863683564629761059318022135-18022139, 18022452-18022458, 18022477, 18022487-18022488, 18022740, 18023073-18023094, 18023097, 18023262, 18023459, 18023486, 18023644-18023646, 18023718-18023754, 18023784-18023785, 18023863, 18023870, 18023875, 18023891-18023907, 18023910-18023911, 18023977-18023987, 18023998-18024300, 18024332-18024363, 18024374-18024433, 18024439-18024486, 18024516-18024544, 18024561-18024563, 18024566-18024581, 18024585, 18024588-18024627, 18024630, 18024645-18024651, 18024671-18024695, 18024723-18024748, 18024776-18024815, 18024843-18024869, 18024885-18024896, 18024934-18024969, 18025025, 18025031, 18025051-18025076, 18025083-18025084, 18025126, 18025129, 18025194-18025196, 18025264-18025265, 18025337, 18025391-18025419, 18025625-18025633, 18027856, 18043975-18043979, 18044980, 18045399, 18045402-18045411, 18046077, 18046892, 18046898, 18057103-18057133, 18057167, 18061165-18061172, 18070962-18070977
187UNC119170.889349930843718072326879360-26879362, 26879366-26879372, 26879383, 26879389-26879441, 26879552-26879567
188SLC6A4170.987849973586923189328543183-28543193, 28543223-28543234
189NF1170.999178403755877852029663351-29663357
190KRT10170.99829059829063175538975327-38975329
191KRT14170.8907681465821155141939739487-39739515, 39741304-39741309, 39742627-39742648, 39742829-39742872, 39742961-39743005, 39743078-39743086
192KRT16170.89240506329114153142239766192-39766202, 39766280-39766281, 39767741-39767753, 39768490-39768531, 39768706-39768746, 39768816-39768859
193KRT17170.86682063125481173129939776911-39776944, 39776982, 39777988-39778006, 39780330-39780351, 39780378-39780420, 39780465-39780471, 39780516-39780522, 39780582-39780588, 39780673, 39780693-39780723, 39780761
194FKBP10170.9674099485420257174939969313, 39969325-39969363, 39969398-39969399, 39969411-39969415, 39969516, 39969523-39969525, 39974503, 39974643-39974646, 39975826
195NAGLU170.9892473118279624223240688395-40688412, 40688465-40688470
196ITGA2B170.998076923076926312042460946, 42460949-42460950, 42460955, 42460972-42460973
197SGCA170.999140893470791116448252692
198COL1A1170.9911262798634839439548264016-48264017, 48265495, 48265500-48265501, 48276608-48276641
199CA4170.99787007454739293958227396-58227397
200ACE170.9737311910227103392161554456-61554457, 61554465-61554532, 61554565-61554571, 61554668-61554671, 61554694-61554700, 61561813-61561822, 61566115-61566119
201DNAI2170.9988998899892181872308327-72308328
202TSEN54170.90259329538267154158173512650-73512653, 73512664-73512666, 73512827-73512873, 73512897-73512936, 73512953-73512957, 73513107-73513109, 73513113-73513152, 73518306-73518316, 73518358
203ITGB4170.9839093070031188546973726555-73726580, 73726973-73726975, 73738814-73738819, 73738822-73738823, 73748606-73748607, 73749949-73749950, 73750055, 73751791-73751797, 73751831-73751855, 73752595-73752599, 73752795-73752797, 73753142-73753144, 73753525-73753527
204GALK1170.9737065309584431117973754198-73754205, 73754554-73754568, 73754599-73754601, 73761180-73761184
205UNC13D170.96730827986557107327373824084-73824088, 73825009, 73826443-73826470, 73826703, 73827231, 73830528-73830530, 73830731, 73831023, 73831536, 73832102, 73832742-73832777, 73838672-73838679, 73839001, 73839135-73839146, 73839271-73839275, 73839323, 73839341
206ACOX1170.9924357034795815198373945348-73945351, 73953562-73953572
207SEPT9170.88131743327655209176175277620-75277636, 75478226, 75478286-75478292, 75478364, 75478375, 75478389, 75483519-75483540, 75483603-75483629, 75484820, 75484841-75484842, 75484859-75484867, 75484910-75484917, 75484940-75484946, 75488744-75488748, 75494605-75494646, 75494659-75494709, 75494715, 75494722-75494727
208GAA170.9891570479188531285978078610, 78078613-78078615, 78078701-78078721, 78082140-78082141, 78082378, 78082569, 78082592, 78086810
209SGSH170.9781312127236633150978184355, 78184749, 78184772-78184779, 78185949, 78190865, 78190868-78190870, 78190876-78190877, 78194082-78194097
210ACTG1170.9361702127659672112879477953, 79477967-79477969, 79478007, 79478019, 79478333-79478361, 79478521, 79478583-79478591, 79479267-79479293
211FSCN2170.37660581473969922147979495558-79495564, 79495569, 79495651-79495671, 79495717-79495754, 79495764-79495833, 79495870, 79495883-79495922, 79495958-79496047, 79496078, 79496105-79496154, 79496173, 79496199-79496227, 79496273, 79496279, 79496283-79496304, 79496317-79496330, 79496337-79496342, 79496361-79496383, 79502088-79502154, 79502165-79502198, 79502227, 79503172-79503178, 79503199-79503209, 79503216, 79503266-79503277, 79503286-79503293, 79503648-79503691, 79503701-79503815, 79503901-79504106
212LPIN2180.99888517279822326912951113-2951115
213AFG3L2180.9912280701754421239412376990-12377002, 12377033-12377039, 12377050
214DSC2180.9926090169992620270628669449-28669468
215LOXHD1180.9983423749246511663644104529-44104539
216MYO5B180.9978366684694412554747364149-47364155, 47721156-47721160
217CCBE1180.9770679770679828122157134084-57134111
218TNFRSF11A180.970826580226954185159992586-59992639
219CTDP1180.94663894663895154288677439948-77439976, 77439990-77440016, 77440030-77440087, 77440106, 77440171-77440203, 77440253, 77440258, 77496470-77496473
220ELANE190.28233830845771577804852329-852350, 852880-853032, 853262-853284, 853290-853390, 853397-853403, 855564-855672, 855688, 855700, 855706-855727, 855736-855739, 855750, 855753-855765, 855768-855777, 855958-855966, 855972-855986, 855993-855996, 856010-856044, 856082-856093, 856130-856164
221KISS1R190.842105263157891891197917515-917563, 917604-917631, 917638-917647, 917650-917651, 918581, 918584-918586, 918648-918668, 920302-920329, 920331-920333, 920338-920344, 920362, 920367-920381, 920572, 920631, 920642, 920646, 920697-920712, 920744
222STK11190.5576036866359457613021207030, 1218470-1218472, 1218481-1218499, 1219323-1219333, 1219340, 1219345-1219352, 1219372, 1219408-1219412, 1220372-1220376, 1220388-1220428, 1220437-1220486, 1220597-1220635, 1220639-1220653, 1220660, 1220706-1220716, 1221212, 1221230-1221339, 1221948-1221950, 1221954-1221956, 1221961-1221966, 1222000-1222005, 1222984-1223001, 1223018-1223037, 1223054-1223085, 1223119-1223171, 1226464-1226469, 1226515-1226568, 1226594-1226646
223NDUFS7190.813084112149531206421387810-1387814, 1387817, 1388528-1388532, 1388563-1388564, 1388571, 1393253-1393296, 1395391-1395397, 1395425-1395429, 1395438-1395487
224GAMT190.90740740740741758101398676-1398679, 1398725-1398728, 1398834-1398881, 1398890-1398897, 1398941, 1399855, 1401425, 1401430-1401437
225RAX2190.86846846846847735553770669-3770673, 3770682, 3770771-3770780, 3770785-3770786, 3770794, 3770817-3770822, 3770879-3770891, 3770909-3770936, 3771596-3771600, 3771604-3771605
226MAP2K2190.8985868661679112212034090596-4090601, 4090676, 4094494-4094496, 4095415-4095417, 4097328-4097341, 4099258-4099259, 4102449, 4123781-4123872
227NDUFA11190.9929577464788734265903623-5903624, 5903628
228INSR190.989395034948184441497132173, 7132299-7132324, 7152775-7152791
229PNPLA6190.979166666666678339847606916-7606925, 7614843-7614860, 7615880-7615881, 7615893, 7615912, 7615964-7615993, 7616280-7616300
230ADAMTS10190.9987922705314433128654429-8654432
231TYK2190.92901234567901253356410463140-10463143, 10463209-10463227, 10463629, 10463693-10463694, 10463703-10463764, 10464211-10464225, 10464301-10464314, 10464733-10464737, 10467244-10467249, 10468445, 10468459-10468508, 10468810, 10469864-10469884, 10469963, 10469973, 10469978, 10475444-10475447, 10476444, 10476450, 10477102, 10488982-10488990, 10488994, 10488997-10488999, 10489014-10489017, 10489025-10489049
232DNM2190.997321086873337261310897326-10897332
233PRKCSH190.998109640831763158711558341-11558343
234MAN2B1190.9914361001317526303612768291-12768316
235CACNA1A190.9897619997340877752113318413, 13318538-13318541, 13318567-13318599, 13318654-13318668, 13318672-13318678, 13318694-13318697, 13318756-13318762, 13318810, 13319692-13319696
236NOTCH3190.97817973011771152696615276857-15276871, 15302245-15302261, 15302327, 15302462-15302468, 15302771-15302778, 15302882, 15303069-15303108, 15303298, 15311619-15311621, 15311626-15311629, 15311637, 15311641, 15311649-15311701
237JAK3190.9955555555555615337517940961, 17953185, 17953240-17953252
238SLC5A5190.999482401656311193217983276
239IL12RB1190.9869281045751626198918191773-18191788, 18197585-18197593, 18197618
240COMP190.960861917326389227418896526-18896533, 18896781-18896789, 18896821, 18896845-18896847, 18899993-18900001, 18900057-18900069, 18900807, 18900848-18900868, 18901660-18901677, 18901721-18901726
241CEBPA190.83101207056639182107733792743, 33792754-33792757, 33792764-33792765, 33792851, 33792900-33792928, 33792930, 33792952, 33792955-33792961, 33792971-33792975, 33793007-33793045, 33793149-33793151, 33793154-33793159, 33793163-33793176, 33793197-33793248, 33793280-33793287, 33793312-33793320
242SCN1B190.950433705080554080735521725-35521764
243HAMP190.98823529411765325535773520-35773522
244MAG190.9351408825093122188135790478-35790515, 35790529-35790538, 35790555, 35790570, 35790583, 35790592-35790593, 35790635-35790636, 35790644-35790647, 35790650, 35790695-35790706, 35790729-35790753, 35791075-35791085, 35791089, 35791093, 35791130-35791132, 35791135-35791142, 35791149
245TYROBP190.879056047197644133936398362-36398379, 36398416, 36398423-36398433, 36399104-36399114
246WDR62190.999562554680662457236580205, 36595851
247RYR1190.981477806443082801511738931473-38931477, 38987053, 38987529-38987542, 38987549-38987550, 38987553, 39055747-39055748, 39055751-39055792, 39055816-39055852, 39055905-39055998, 39056007-39056038, 39056058-39056064, 39056209, 39056212-39056215, 39056218-39056239, 39056301-39056316
248ACTN4190.965643274853894273639138427-39138440, 39138505-39138531, 39214675-39214680, 39215075, 39218643, 39218655-39218658, 39219779-39219794, 39220034-39220058
249DLL3190.997307485191175185739993568-39993569, 39993602, 39998039-39998040
250PRX190.9911080711354339438640903479, 40909621, 40909632-40909646, 40909723-40909744
251TGFB1190.996589940323964117341838167, 41854247-41854248, 41858935
252ATP1A3190.9951060358890718367842470868-42470870, 42470907, 42470959-42470965, 42471036-42471042
253BCAM190.9554848966613784188745312382-45312463, 45324046, 45324051
254ERCC2190.9776609724047351228345867108-45867115, 45867495-45867496, 45867510-45867514, 45867580-45867585, 45867588-45867589, 45873443-45873470
255SIX5190.9698198198198267222046268972-46268981, 46270151-46270160, 46270353, 46270360-46270362, 46271837-46271839, 46271971, 46271977-46271978, 46272027-46272063
256DMPK190.9830687830687832189046281858-46281860, 46285491-46285501, 46285539-46285541, 46285580-46285594
257FKRP190.91263440860215130148847259069, 47259072, 47259267, 47259281-47259282, 47259288, 47259295, 47259372-47259386, 47259491-47259494, 47259585, 47259592, 47259642-47259692, 47259711-47259739, 47259745-47259758, 47260138, 47260167-47260170, 47260177-47260179
258DBP190.732106339468326297849134122, 49134186, 49138838-49138859, 49138870, 49138885-49138927, 49138943-49138953, 49138965, 49138980, 49138985, 49138997-49139017, 49139037-49139054, 49139067-49139178, 49139220-49139247, 49140206
259GYS1190.9661246612466175221449485552, 49494585-49494587, 49494674-49494675, 49494704, 49494707, 49494714-49494740, 49496252-49496262, 49496276-49496283, 49496299, 49496302, 49496307-49496318, 49496327, 49496346, 49496365-49496369
260MED25190.9866310160427830224450321601-50321624, 50333779, 50335409-50335410, 50338430, 50338851, 50339491
261MYH14190.9980363279332412611150770212-50770223
262KCNC3190.90501319261214216227450823505-50823515, 50823522, 50823526, 50823566-50823567, 50823578, 50826342-50826351, 50831725-50831731, 50831936-50831959, 50832003, 50832097, 50832099-50832117, 50832191-50832192, 50832202-50832337
263NLRP12190.94224733207784184318654301575-54301617, 54304525-54304527, 54307322, 54307369, 54310788-54310791, 54312843-54312865, 54313357, 54313587, 54313590-54313592, 54313597, 54313635-54313636, 54313670-54313692, 54313977-54314008, 54314383-54314428
264PRKCG190.9718242597898859209454392923, 54392928, 54392934, 54392942, 54392948, 54392958-54392960, 54393238-54393256, 54401839-54401870
265PRPF31190.658513150054625257, 54625891-54625938, 54627140-54627147, 54627884-54627889, 54627917-54627921, 54627932-54627937, 54629911, 54629958, 54629961, 54629971-54629992, 54631448-54631455, 54631478-54631575, 54631704-54631752, 54632432-54632435, 54632457-54632481, 54632532-54632560, 54632647-54632745, 54634744-54634797, 54634816-54634863
266TNNT1190.969581749049432478955644298, 55645280, 55652273-55652294
267TNNI3190.99835796387521160955667693
268TPO20.9618129907209110728021520655-1520662, 1520676, 1520679-1520723, 1544393-1544437, 1544488-1544495
269KLF1120.9850552306692723153910183863-10183885
270APOB20.99802804557406271369221266757-21266783
271OTOF20.9894894894894963599426699811-26699818, 26699857-26699911
272SPAST20.9864937871420925185132288996-32289002, 32289086-32289088, 32289091-32289094, 32289139-32289149
273CYP1B120.997549019607844163238302411, 38302423-38302425
274SOS120.999500249875062400239281770-39281771
275ABCG520.999488752556241195644059006
276MSH620.999020328190064408348010538-48010541
277EFEMP120.998650472334682148256094280-56094281
278DYSF20.99984276729561636071847720
279SPR20.983460559796441378673114680-73114692
280ALMS120.99896033269354131250473613032-73613037, 73613043, 73679718, 73747023-73747027
281MOGS20.999602227525861251474692279
282GGCX20.996486605182268227785788521-85788528
283EIF2AK320.985974336019147335188926599, 88926726-88926764, 88926774-88926780
284RANBP220.959896640826873889675109345588-109345589, 109352185-109352191, 109357110-109357116, 109363167, 109363251-109363254, 109365376-109365377, 109367720-109367733, 109368074-109368111, 109371656-109371690, 109378581, 109382601-109382607, 109382778-109382793, 109383046-109383090, 109383186-109383210, 109383226-109383274, 109383354-109383371, 109383672-109383720, 109384004-109384038, 109384469, 109384505-109384529, 109384628-109384634
285MERTK20.99863000112656319-112656323, 112656326
286GLI220.99558916194077214761121555013-121555031, 121746236, 121746240
287PROC20.96825396825397441386128180647-128180684, 128180701-128180705, 128180933
288CFC120.9092261904761961672131280364-131280392, 131280426-131280430, 131280433, 131280440, 131280447, 131280450, 131280455-131280457, 131280742-131280743, 131280799-131280816
289LCT20.998789764868675784136558247, 136558250-136558255
290NEB20.99994993491539119974152432773
291SCN2A20.9998338318378216018166237677
292CHN120.98840579710145161380175869625-175869640
293HOXD1320.97771317829457231032176957619-176957620, 176957664-176957677, 176957711-176957713, 176957966-176957969
294DFNB5920.98772426817753131059179318309, 179318317-179318328
295CERKL20.99124452782989141599182468647-182468648, 182468770-182468781
296ALS220.9991958182549344974202593326-202593329
297BMPR220.9993583573949323117203378480, 203384867
298ACADL20.998453209590121293211085387, 211085390
299CPS120.9993337774816834503211455565-211455567
300PNKD20.9956822107081251158219204548-219204552
301WNT10A20.99202551834131101254219745753-219745762
302DES20.99009200283086141413220283259, 220283277-220283279, 220283282, 220283701-220283708, 220283711
303OBSL120.981374099455281065691220416299-220416300, 220417301-220417302, 220417360-220417367, 220417415, 220435375, 220435629-220435676, 220435720-220435721, 220435741-220435744, 220435747-220435748, 220435877-220435887, 220435891, 220435931-220435954
304COL4A320.9986036305605475013228163441-228163447
305CHRND20.99356499356499101554233390937, 233390943-233390944, 233390974-233390977, 233393659, 233396310, 233396313
306AGXT20.98218829516539211179241808354-241808360, 241808620-241808626, 241810108-241810114
307D2HGDH20.95913154533844641566242674640-242674647, 242689587, 242689636-242689642, 242690745, 242695402-242695404, 242695416-242695418, 242707295-242707335
308AVP200.89090909090909544953063331-3063361, 3063373, 3063641-3063653, 3063693, 3063770, 3063806-3063812
309C20orf7200.996146435452794103813782264-13782267
310SNTA1200.9420289855072588151832031148-32031172, 32031175, 32031180-32031181, 32031251-32031261, 32031290, 32031326-32031357, 32031365, 32031402-32031414, 32031420-32031421
311ADA200.993589743589747109243257763-43257765, 43257769-43257772
312CTSA200.9772879091516434149744520234-44520267
313GNAS200.95799457994583173857415176-57415198, 57415563-57415569, 57415818
314GNAS200.9942196531791918311457429071-57429078, 57429644-57429653
315COL9A3200.88710462287105232205561448417-61448494, 61448934, 61448940-61448964, 61448967-61448968, 61449870-61449874, 61450607, 61451332-61451334, 61453490-61453516, 61453943-61453944, 61455846-61455853, 61456320-61456373, 61457591-61457605, 61461907, 61461917, 61463518-61463526
316CHRNA4200.0966029723991511702188461978090-61978215, 61981005-61981111, 61981117-61981159, 61981168-61981279, 61981288-61981763, 61981780-61981783, 61981785-61981787, 61981791, 61981810, 61981838-61982009, 61982026-61982094, 61982105, 61982114-61982163, 61982188-61982208, 61982212-61982253, 61982258, 61982280, 61982291-61982379, 61987327-61987436, 61987723-61987767, 61990900-61991051, 61992442-61992517
317KCNQ2200.73463153875525695261962037997-62038004, 62038014-62038061, 62038069, 62038086-62038091, 62038215, 62038220, 62038223, 62038268-62038316, 62038346-62038347, 62038352-62038353, 62038371-62038373, 62038408-62038428, 62038452, 62038460-62038462, 62038488, 62038499, 62038512, 62038520-62038522, 62038548-62038555, 62038582-62038611, 62038676, 62038686-62038687, 62038696, 62039766-62039791, 62046299-62046300, 62046305-62046306, 62046377, 62071043-62071061, 62073767, 62073771-62073777, 62073802-62073816, 62076028-62076036, 62076083-62076097, 62076596-62076606, 62076647-62076669, 62076679-62076717, 62078100-62078103, 62078136-62078165, 62103521-62103816
318SOX18200.44242424242424644115562679563-62679577, 62679749-62679772, 62679814-62679822, 62679834-62679844, 62679912-62679946, 62679958-62679981, 62680086-62680197, 62680204-62680210, 62680242-62680266, 62680279-62680281, 62680291-62680311, 62680512-62680869
319IFNGR2210.9280078895463573101434775850-34775922
320RCAN1210.961791831357052975935987060, 35987166, 35987244-35987263, 35987270-35987272, 35987275, 35987284, 35987286-35987287
321CLDN14210.986111111111111072037833279, 37833560, 37833585-37833588, 37833603-37833606
322AIRE210.50976800976801803163845705890-45705891, 45705902-45705904, 45705909, 45705916-45705952, 45705959-45706013, 45706457, 45706461, 45706465-45706469, 45706499-45706522, 45706542, 45706861-45706866, 45706870, 45706908-45706947, 45706973-45706990, 45707412, 45707420, 45707443-45707474, 45708262-45708272, 45708277-45708278, 45708285, 45708293, 45708297, 45708320-45708334, 45708338, 45709570-45709612, 45709621-45709667, 45709916, 45709920-45709934, 45709951, 45710978-45711034, 45711045, 45711070-45711076, 45712879-45712904, 45712928-45712929, 45712936, 45712945, 45712976-45712986, 45712989, 45713027-45713058, 45713676-45713682, 45713702-45713742, 45713748-45713793, 45714284-45714386, 45716279-45716328, 45717539-45717586, 45717599
323ITGB2210.9857142857142933231046308614-46308621, 46308668-46308692
324COL18A1210.80341880341881035526546875840-46875843, 46875952-46875961, 46876527-46876541, 46876585, 46876641-46876665, 46876689-46876714, 46888189, 46888251-46888256, 46896322-46896326, 46900643, 46906776-46906822, 46906852, 46906883, 46909400-46909435, 46910189-46910217, 46910244-46910260, 46910766-46910782, 46911139-46911228, 46912449-46912468, 46912476-46912478, 46912601-46912607, 46913077-46913099, 46913110-46913111, 46913122-46913128, 46913419, 46913423, 46913428-46913445, 46913448, 46913452, 46913456, 46913459-46913489, 46914459-46914485, 46914779-46914804, 46915272, 46915283-46915312, 46915317, 46916414-46916426, 46916437-46916441, 46916459-46916462, 46916473-46916482, 46917521-46917523, 46917548-46917575, 46923925-46923968, 46924358-46924361, 46924387-46924403, 46924406-46924422, 46924426-46924434, 46924454, 46925058-46925075, 46925087, 46925096-46925192, 46925272-46925275, 46925283, 46925294, 46925302-46925331, 46925334, 46925340-46925341, 46925786-46925846, 46925870-46925873, 46925879, 46927475-46927482, 46929304, 46929363-46929365, 46929370, 46929374-46929377, 46929996-46930000, 46930014-46930058, 46930077, 46930084-46930089, 46930092, 46930099, 46930106-46930107, 46931031-46931040, 46931043, 46931085, 46931088-46931093, 46931096, 46931140, 46932191, 46932195-46932221
325COL6A1210.85228377065112456308747401765-47401861, 47402548-47402562, 47402584-47402616, 47402625-47402639, 47402674-47402675, 47404183-47404197, 47404223-47404231, 47404237-47404247, 47404292-47404299, 47404310-47404343, 47404349-47404362, 47404368-47404383, 47406440-47406449, 47406476-47406478, 47406495-47406499, 47406546, 47406550-47406551, 47406575-47406576, 47406858-47406899, 47406912-47406918, 47406931-47406943, 47406946, 47406979-47406986, 47407416-47407421, 47407524-47407568, 47409021-47409034, 47409556-47409563, 47410296-47410299, 47410303-47410304, 47412099, 47412102-47412108, 47412125, 47417341-47417342, 47417614-47417615, 47423517
326COL6A2210.627450980392161140306047531446-47531469, 47531484-47531495, 47531893-47531902, 47531939-47531941, 47531947-47531949, 47531983-47531999, 47532070-47532081, 47532085, 47532088, 47532171-47532200, 47532379, 47532384, 47535822-47535826, 47535923-47535931, 47535960-47535967, 47536309-47536311, 47536566-47536591, 47536702-47536707, 47536710-47536720, 47537314-47537316, 47537338-47537351, 47537812-47537828, 47537832, 47538529-47538535, 47538571-47538590, 47538949, 47539013, 47539023-47539033, 47539702-47539705, 47539712-47539764, 47540429-47540456, 47540479-47540485, 47540975-47540993, 47541034-47541035, 47541484-47541495, 47541500-47541515, 47542436-47542445, 47542789-47542806, 47542821-47542824, 47542828-47542851, 47544576, 47544584-47544585, 47544590-47544595, 47544599, 47545180-47545193, 47545433, 47545478-47545479, 47545510-47545512, 47545527, 47545699-47545718, 47545721-47545780, 47545840-47545849, 47545853-47545865, 47545889, 47545896, 47545934-47545944, 47545960-47545996, 47546028-47546054, 47546085-47546086, 47546125-47546151, 47551868-47551905, 47551917-47551954, 47551994-47552000, 47552020-47552144, 47552150-47552219, 47552233-47552261, 47552274-47552275, 47552279-47552284, 47552288-47552366, 47552368, 47552387-47552397, 47552405-47552408, 47552423-47552429, 47552439-47552466
327COL6A2210.2982456140350924034247552183-47552219, 47552233-47552261, 47552274-47552275, 47552279-47552284, 47552288-47552366, 47552368, 47552387-47552397, 47552405-47552408, 47552423-47552429, 47552439-47552497, 47552520-47552524
328FTCD210.34501845018451065162647556901-47556923, 47556929, 47556931-47556932, 47556937, 47557153-47557248, 47558422-47558450, 47558468, 47558473, 47558482-47558560, 47558820, 47565331-47565492, 47565732-47565861, 47566180-47566241, 47570033-47570072, 47570105-47570115, 47570130-47570164, 47570302-47570338, 47570360-47570370, 47570406-47570424, 47571488-47571490, 47571493, 47571557-47571649, 47571814-47571815, 47571820, 47571825-47571832, 47571835-47571845, 47571865-47571894, 47572849-47572859, 47572893-47572921, 47572939, 47572947-47572949, 47574063-47574117, 47574133-47574143, 47574184-47574201, 47574213, 47574219-47574225, 47575388-47575396, 47575399-47575401, 47575406-47575432
329PRODH220.91957848031059145180318900750, 18900841, 18904411-18904417, 18905874-18905880, 18908920-18908927, 18923529, 18923545-18923559, 18923582-18923622, 18923649-18923697, 18923743, 18923759-18923763, 18923772-18923777, 18923784-18923785, 18923791
330GP1BB220.1545893719806852562119711094-19711095, 19711377-19711479, 19711491-19711498, 19711527-19711776, 19711783-19711930, 19711943-19711956
331TBX1220.74596774193548378148819747186, 19748428-19748599, 19748608-19748630, 19748636-19748643, 19748655, 19748670-19748677, 19748681, 19748688, 19753455, 19753498-19753504, 19753912-19753913, 19753917-19753921, 19753924-19753928, 19753943-19754009, 19754012-19754046, 19754151, 19754154-19754155, 19754192-19754193, 19754291-19754325, 19754335
332SMARCB1220.998272884283252115824135747-24135748
333CHEK2220.93696763202726111176129083889-29083916, 29083948-29083965, 29085165-29085171, 29090051-29090057, 29091154-29091203, 29130458
334NF2220.995525727069358178830000014-30000020, 30000035
335TRIOBP220.96041138348831281709838119742-38119774, 38119798-38119835, 38119883-38119905, 38119976-38119982, 38120038-38120068, 38120123-38120129, 38120193-38120199, 38120394-38120432, 38120549-38120576, 38120668, 38121933, 38122447, 38122456, 38122462-38122464, 38122493-38122495, 38122504, 38129411-38129419, 38130477, 38130806, 38130936-38130959, 38131021, 38131033-38131037, 38131229, 38131240, 38131243, 38131246, 38131259, 38147779-38147782, 38147786, 38151121, 38153920, 38153937, 38161796, 38165164, 38165184
336PLA2G6220.3292433537832332848938508274-38508312, 38508520-38508522, 38508535-38508584, 38509531-38509634, 38509657, 38509712-38509716, 38509744-38509869
337PLA2G6220.77901693515076535242138508168-38508179, 38508184-38508200, 38508206-38508208, 38508223-38508237, 38508252-38508312, 38508520-38508522, 38508535-38508584, 38509531-38509634, 38509657, 38511534-38511543, 38511568-38511645, 38511658-38511688, 38512082-38512119, 38512150, 38512155-38512181, 38512184, 38512193-38512218, 38516888-38516895, 38516898-38516905, 38519102-38519114, 38519140-38519161, 38519223, 38519228-38519230, 38519234, 38519239
338TNFRSF13C220.4144144144144132555542321391-42321394, 42321418-42321428, 42322105-42322117, 42322126-42322128, 42322146-42322335, 42322642-42322681, 42322702-42322740, 42322748-42322772
339CYB5R3220.985651214128041390643026895, 43045304-43045314, 43045321
340TRMU220.982622432859422126646731723-46731734, 46746311, 46746342-46746349, 46751384
341ALG12220.9175187457396121146750298002, 50298007-50298008, 50301543, 50301554-50301570, 50301575, 50303625, 50303706-50303707, 50303717, 50303721-50303736, 50304143-50304171, 50307048, 50307051-50307052, 50307131-50307165, 50307314-50307316, 50307403-50307411
342MLC1220.998236331569662113450502493-50502494
343SCO2220.980024968789011680150962360, 50962525-50962530, 50962534, 50962669-50962675, 50962830
344TYMP220.47412008281574762144950964199-50964241, 50964248-50964347, 50964430-50964570, 50964675-50964701, 50964708-50964764, 50964796-50964805, 50964814-50964826, 50964832-50964901, 50965005-50965044, 50965053-50965099, 50965125-50965167, 50965604-50965605, 50965612, 50965621, 50965641, 50965679, 50965686, 50966068, 50967569-50967570, 50967630-50967632, 50967666, 50967677-50967681, 50967704-50967715, 50967732-50967757, 50967943-50967971, 50967988-50968029, 50968063-50968068, 50968075, 50968078, 50968104-50968138
345ARSA220.998687664041992152451063785, 51064077
346SHANK3220.738939740655991369524451113070-51113132, 51113476-51113679, 51115050-51115057, 51115090-51115114, 51115118-51115121, 51117013-51117121, 51117197-51117348, 51117447-51117614, 51117740-51117856, 51121768-51121845, 51123013-51123079, 51133323-51133324, 51133331-51133333, 51133355-51133356, 51133360-51133383, 51135671-51135719, 51135951-51136143, 51137152-51137156, 51143275, 51144568-51144572, 51158749, 51158752-51158754, 51158790, 51158815-51158823, 51158826-51158833, 51158864, 51158881, 51158922-51158923, 51158965, 51159155, 51159202, 51159205, 51159308-51159309, 51159418, 51169247, 51169250, 51169282, 51169390, 51169506-51169509, 51169519-51169527, 51169566-51169577, 51169584, 51169604-51169610, 51169659, 51169691-51169695, 51169700-51169712, 51169716
347FANCD230.999547101449282441610085536, 10132069
348SCN5A30.999830191883171588938616807
349TMIE30.915032679738563945946742932, 46742957-46742982, 46743015-46743026
350TMIE30.957537154989382047146742978-46742982, 46743015-46743026, 46751074-46751076
351TREX130.992792792792798111048508031-48508033, 48508055, 48508235, 48508879-48508881
352COL7A130.97317487266553237883548602352, 48607759, 48608075, 48609837, 48612791-48612794, 48612901, 48613101, 48613104-48613105, 48613720-48613729, 48616667, 48616706-48616709, 48617022, 48619010-48619033, 48619037-48619040, 48619173-48619176, 48621382-48621384, 48621782-48621784, 48623596-48623600, 48623654-48623660, 48624496-48624503, 48624688-48624689, 48624866-48624869, 48624913-48624950, 48625227-48625240, 48625260, 48625266, 48625276, 48625352, 48626399, 48626760-48626762, 48626765, 48626792, 48626822-48626879, 48627032-48627033, 48627041, 48627102-48627113, 48627142-48627151
353LAMB230.999073559384845539749162754-49162758
354AMT30.999174917491751121249459683
355GNAT130.999050332383671105350231565
356TNNC130.98765432098765648652486219-52486221, 52486224-52486226
357TKT30.998397435897443187253289926-53289928
358ATXN730.93763213530655177283863898284, 63898295, 63898308-63898338, 63898361-63898366, 63898410-63898427, 63898437-63898525, 63898533-63898554, 63898570-63898578
359PROS130.9867060561299927203193596020, 93617388-93617413
360ARL13B30.9782439782439828128793761859-93761866, 93761872-93761881, 93761972, 93762013-93762017, 93762081, 93762084, 93768366, 93769735
361IQCB130.9972175848636651797121526215-121526219
362RHO30.9990448901623711047129251431
363NPHP330.99549211119459183993132438549-132438552, 132438623-132438636
364FOXL230.98850574712644131131138664876-138664887, 138664899
365ALG330.9984813971146521317183966653-183966654
366CLCN230.9992584352984822697184072336, 184072347
367CPN230.996947496947551638194061878-194061881, 194062374
368PDE6B40.97738791423002582565647642-647644, 647680, 647692, 647702, 647762, 648626, 651225-651265, 651275-651283
369IDUA40.201325178389415671962980873-981030, 981597-981737, 994400-994429, 994483-994485, 994672-994677, 994683-994690, 994698-994763, 995268-995284, 995311-995339, 995489-995513, 995543-995551, 995573-995619, 995626-995665, 995784-995791, 995806-995839, 995865-995949, 996057-996065, 996082-996122, 996130-996273, 996520-996732, 996824-996945, 997133-997258, 997337-997413, 997800-997807, 997812-997813, 997829-997859, 997884-997891, 998048-998056, 998061, 998068, 998071, 998075, 998081-998100, 998113-998114, 998137-998181
370FGFR340.8405438813349838724271795662-1795670, 1795690-1795757, 1795768-1795770, 1801005-1801008, 1801028, 1801043-1801047, 1801055-1801057, 1801089-1801090, 1801125-1801136, 1801147-1801148, 1801191-1801194, 1801202-1801227, 1801474-1801485, 1801495-1801503, 1803111, 1803198-1803244, 1803381-1803386, 1803420-1803456, 1803587-1803596, 1803718, 1803732-1803752, 1806569-1806579, 1806652-1806654, 1807136-1807147, 1807558, 1807832-1807835, 1808405-1808407, 1808561-1808564, 1808633, 1808637-1808648, 1808843-1808846, 1808884-1808918, 1808932, 1808977-1808989
371SH3BP240.983844911147013018572820022-2820048, 2820074, 2820077, 2831383
372HTT40.9817584049209917294293076600-3076603, 3076604-3076699, 3076707-3076743, 3076753-3076761, 3076777, 3076788-3076792, 3213809, 3234921, 3234964-3234975, 3240306, 3240597, 3241732-3241734, 3241786
373DOK740.8871287128712917115153465103, 3465129-3465156, 3465233-3465278, 3475164-3475168, 3478079-3478087, 3478106-3478107, 3478187-3478218, 3494548, 3494573, 3494612, 3494682-3494688, 3494846-3494850, 3494961, 3495028-3495052, 3495078-3495083, 3495150
374DOK740.92724196277496435913494548, 3494573, 3494612, 3494682-3494688, 3494846-3494850, 3494961, 3495028-3495052, 3495078-3495079
375EVC40.995636119503191329795713108, 5713135, 5713203-5713213
376WFS140.995136550692111326736279253-6279263, 6279363, 6279389
377CNGA140.998684210526323228047954688-47954690
378PKD240.9786721706226462290788928898-88928903, 88928911-88928959, 88928967-88928972, 88929098
379CISD240.9558823529411818408103808512-103808522, 103808569-103808575
380MFSD840.98265895953757271557128859942-128859964, 128859976, 128859979, 128859993, 128878661
381FGB40.99186991869919121476155484203-155484214
382CTSO40.998964803312631966156863509
383ETFDH40.9994606256742211854159601713
384GK40.9993983152827911662166199345
385SDHA50.90626566416041871995223682-223683, 224475, 228354, 233689-233697, 236646-236681, 240518-240527, 251108-251149, 251190-251218, 251500-251506, 254571-254577, 254606-254621, 256449-256475
386SLC6A1950.6671916010498763419051201766-1201967, 1208883-1208886, 1208951-1208958, 1208964-1209001, 1210559-1210600, 1210635-1210653, 1212480, 1212566-1212569, 1212580-1212583, 1212590, 1213578-1213665, 1213677-1213688, 1214076, 1214084-1214100, 1214103-1214105, 1214109-1214110, 1214112, 1214127-1214139, 1214158-1214180, 1216759-1216778, 1216789, 1216798-1216801, 1217033-1217034, 1219018-1219051, 1219111-1219112, 1219132-1219134, 1219154, 1219620-1219639, 1219651, 1219695-1219746, 1221266-1221276
387TERT50.69814651368049102633991254516-1254518, 1254521, 1258715-1258720, 1258738, 1258746, 1264533-1264569, 1266579-1266616, 1266649, 1268667-1268727, 1268737, 1268742-1268748, 1271234-1271258, 1271271-1271278, 1271282-1271301, 1272306-1272354, 1278796, 1278812-1278866, 1278894, 1278898, 1278902, 1279421-1279437, 1279462-1279494, 1279506-1279552, 1279561-1279562, 1279582-1279584, 1280286-1280306, 1280314-1280379, 1293619, 1293626, 1293684, 1293710-1293712, 1293715-1293725, 1293945-1293952, 1294173-1294182, 1294242-1294338, 1294398-1294418, 1294430, 1294479-1294502, 1294556-1294575, 1294600-1294702, 1294718-1294781, 1294900-1294941, 1294967-1294985, 1294996, 1295013-1295104
388SLC6A350.970477724100915518631409162-1409190, 1409226-1409237, 1414806-1414815, 1420806-1420809
389NDUFS650.93333333333333253751801617-1801640, 1802472
390DNAH550.9993513513513591387513916490-13916498
391NIPBL50.98621509209745116841536985476-36985535, 37006603-37006606, 37006630-37006632, 37022182, 37036481-37036485, 37036489-37036490, 37044579, 37048649-37048652, 37048660-37048664, 37048750-37048772, 37052588, 37059103-37059108, 37064053
392LIFR50.99969641772921329438490304
393GHR50.9655712050078266191742629140-42629205
394ERCC850.996641477749794119160200650-60200653
395SMN250.985310734463281388569359242-69359247, 69362946-69362952
396SMN250.985310734463281388570234666-70234671, 70238370-70238376
397ARSB50.999375780274661160278281007
398RASA150.9904580152671830314486564545-86564551, 86669980-86669981, 86670033, 86670036-86670043, 86670080-86670081, 86670109-86670118
399GPR9850.9998942973415821892190144582, 90144587
400LMNB150.9988642816581521761126113478, 126113481
401SLC22A550.9982078853046631674131705666, 131705878-131705879
402MYOT50.98329993319973251497137221875, 137221879-137221902
403DIAPH150.98874050798638433819140953317, 140953560-140953601
404TCOF150.9965564738292154356149748370-149748383, 149776043
405F1250.98755411255411231848176830983-176830997, 176831562-176831569
406NHP250.9610389610389618462177580659-177580660, 177580733-177580748
407GRM650.97798025816249582634178415962, 178421579-178421611, 178421666-178421678, 178421898, 178421904, 178421908, 178421933-178421940
408SQSTM150.97656840513983311323179247989-179248000, 179248005-179248010, 179248071-179248079, 179248112-179248113, 179248140-179248141
409FLT450.2822580645161329374092180039595, 180039603, 180043367-180043368, 180043371, 180043378-180043380, 180043425, 180043446-180043448, 180043464-180043489, 180043944-180043948, 180043956-180043964, 180043967, 180043993, 180045770-180045920, 180046021-180046062, 180046069-180046109, 180046253-180046366, 180046665-180046769, 180047173-180047308, 180047609-180047674, 180047680-180047695, 180047707-180047708, 180047711-180047714, 180047876-180048007, 180048106-180048252, 180048542-180048643, 180048654-180048728, 180048735-180048746, 180048751-180048754, 180048769-180048815, 180048821-180048822, 180048825-180048826, 180048842-180048843, 180048848-180048904, 180049731-180049759, 180049775, 180049786-180049839, 180050935-180051061, 180052869-180053031, 180053111-180053216, 180053225-180053265, 180055882-180055999, 180056259-180056427, 180056696-180056835, 180056943-180057105, 180057225-180057337, 180057555-180057799, 180058682-180058778, 180076488-180076545
410FOXC160.8495788206979525016621610725, 1610737-1610739, 1610836-1610837, 1611078-1611086, 1611170-1611179, 1611266-1611275, 1611325-1611326, 1611331-1611334, 1611337-1611345, 1611368, 1611413-1611432, 1611462-1611493, 1611497, 1611512-1611544, 1611570-1611582, 1611592-1611604, 1611609-1611612, 1611650-1611686, 1611698-1611699, 1611742, 1611797-1611825, 1611951-1611953, 1612018-1612020, 1612027, 1612080-1612086
411TUBB2B60.983557548579972213383224998-3225018, 3225446
412ATXN160.996732026143798244816327865-16327867, 16327909, 16327916-16327918, 16327921
413HLA-H60.962666666666672875029855996-29856001, 29856593-29856614
414TNXB60.91187143597719170192931976896-31976929, 31977388-31977395, 31977509-31977555, 31977998, 31978491-31978535, 31978782-31978815, 31979479
415CYP21A260.9670698924731249148832006211-32006234, 32006317, 32006337, 32006886, 32008448-32008454, 32008893-32008907
416TNXB60.99465786786079681272932009648-32009664, 32010123-32010130, 32010260, 32010272, 32010732, 32011231-32011269, 32012333
417HLA-DQA160.959635416666673176832609181, 32609236, 32609239-32609241, 32609952, 32609969, 32609974, 32610387-32610406, 32610534-32610535, 32610538
418HLA-DQB160.858778625954211178632629124-32629173, 32629224-32629234, 32632575-32632612, 32632744, 32632763-32632771, 32632781-32632782
419SYNGAP160.9831349206349268403233388042-33388108, 33393625
420RPS1060.9859437751004749834392465-34392471
421FANCE60.999379267535691161135420406
422TULP160.996930632289755162935480003-35480007
423MOCS160.78388278388278413191139893422-39893589, 39895068-39895285, 39895291-39895317
424RSPH960.972322503008422383143612845-43612854, 43612920-43612932
425RUNX260.994252873563229156645390481, 45390485-45390489, 45390500-45390502
426MUT60.9738126941855359225349403282, 49409561-49409603, 49409620-49409634
427PKHD160.99901840490798121222551929753-51929760, 51929791, 51929796-51929797, 51929801
428COL9A160.9916847433116423276670990707-70990729
429RIMS160.999803110848591507972892363
430SLC17A560.999327956989251148874345141
431LCA560.999522445081181209480202338
432OSTM160.98606965174129141005108395689, 108395696, 108395713-108395715, 108395747-108395754, 108395829
433EPM2A60.993975903614466996145956450-145956455
434TBP60.98039215686275201020170871014-170871019, 170871037, 170871046, 170871067-170871076, 170871079, 170871082
435LFNG70.5491228070175451411402559496-2559707, 2559721-2559927, 2564347-2564358, 2564854-2564881, 2565048-2565056, 2565103, 2565126-2565130, 2565321, 2565329, 2565337-2565339, 2565342-2565343, 2565346, 2565352-2565354, 2565358-2565361, 2565372, 2565385-2565393, 2565396, 2565919, 2566002-2566013, 2566790
436PMS270.975666280417156325896013150-6013156, 6026622, 6026985-6026991, 6043610-6043616, 6045523-6045563
437TWIST170.8292282430213510460919156760-19156761, 19156796-19156873, 19156896-19156919
438DNAH1170.9998526377836721357221630537, 21894039
439HOXA170.997023809523813100827135317-27135319
440HOXA1370.83890317052271188116727239171-27239172, 27239204-27239206, 27239219-27239226, 27239305-27239351, 27239375-27239414, 27239445-27239472, 27239477-27239484, 27239499-27239529, 27239560-27239579, 27239610
441PGAM270.98950131233596876244104975, 44105090-44105096
442CCM270.9325842696629290133545039933-45039944, 45039952-45039953, 45039957-45039962, 45113889-45113928, 45113975-45113977, 45113982-45113983, 45115417-45115430, 45115545-45115548, 45115553, 45115626, 45115630-45115634
443EGFR70.997797963115888363355087038-55087045
444ASL70.77132616487455319139565546831-65546841, 65546940-65546943, 65547401-65547438, 65548067-65548071, 65548074-65548076, 65551614-65551619, 65551643-65551649, 65551731-65551761, 65551798, 65551801-65551803, 65552321-65552326, 65552716-65552717, 65553807-65553814, 65553821-65553841, 65553854, 65553864-65553865, 65554081-65554088, 65554093-65554099, 65554289-65554301, 65554599-65554602, 65554605-65554619, 65554632, 65554635, 65556993-65557024, 65557544-65557582, 65557755-65557770, 65557835-65557868
445KCTD770.904597701149438387066094052-66094079, 66094093-66094096, 66094145-66094195
446NCF170.922424242424246482572637917-72637919, 72639957-72639990, 72640031-72640039, 72641444-72641450, 72644230-72644236, 72645927, 72648651, 72648672, 72648696
447ELN70.9609195402298985217573442518-73442541, 73442559-73442594, 73466091, 73466129-73466135, 73466266-73466282
448NCF170.9437340153452766117374193665-74193672, 74195126-74195132, 74197312, 74197320, 74202930-74202936, 74202989-74203029, 74203045
449POR70.86000978952521286204375609772-75609775, 75610379-75610389, 75612884, 75613172-75613174, 75614120-75614126, 75614201-75614242, 75614255, 75614268-75614273, 75614385-75614394, 75614419-75614434, 75614449-75614450, 75614516-75614525, 75614913-75614920, 75614950-75614955, 75614960-75614982, 75615002-75615028, 75615099-75615121, 75615157-75615167, 75615241-75615245, 75615256, 75615268-75615288, 75615369, 75615478-75615484, 75615534-75615559, 75615713-75615720, 75615759-75615764
450AKAP970.99914704878881101172491609620-91609622, 91609627-91609629, 91625056, 91630231, 91630234, 91630304
451KRIT170.999547715965631221191852167
452COL1A270.999512314069742410194058694-94058695
453SLC26A470.9978659837814852343107314709-107314711, 107314715, 107314718
454CFTR70.962412784154851674443117188713-117188753, 117188760-117188800, 117188838-117188853, 117188874-117188877, 117232181, 117234999-117235059, 117235079, 117235084, 117235097
455IMPDH170.98333333333333301800128049827-128049854, 128049865-128049866
456FLNC70.99694301785278258178128470709, 128470715, 128470719, 128470724, 128470842-128470852, 128470951-128470952, 128471019-128471020, 128477273, 128477277-128477281
457ATP6V0A470.9976218787158162523138394376-138394381
458BRAF70.9995654063450712301140624412
459PRSS170.9448924731182841744142458506-142458512, 142459679, 142460310-142460342
460CLCN170.9993259184361322967143043296-143043297
461KCNH270.98275862068966603480150674926-150674970, 150674987-150675001
462SHH70.652987760979124821389155595594-155595665, 155595693-155595801, 155595805-155595807, 155595810, 155595827-155595839, 155595845, 155595850, 155595866-155595881, 155595895-155595897, 155595901, 155595905-155595964, 155595989-155596001, 155596017-155596043, 155596051-155596054, 155596065-155596069, 155596093, 155596097-155596099, 155596122-155596149, 155596181-155596216, 155596228-155596236, 155596239-155596250, 155596262, 155596272, 155596313-155596350, 155599005, 155599035-155599053, 155599110, 155599115-155599117
463MNX170.707296849087893531206156798386-156798413, 156802509-156802547, 156802568-156802572, 156802583, 156802586, 156802598-156802623, 156802646-156802758, 156802769-156802816, 156802827-156802842, 156802850, 156802863-156802890, 156802932-156802952, 156802992, 156802996-156803020
464MCPH180.99960127591707125086299600
465GATA480.9616252821670451132911565912, 11565915, 11566117-11566125, 11566164-11566178, 11566224-11566237, 11566347-11566349, 11566356-11566363
466HGSNAT80.9816561844863735190842995650-42995671, 42995679, 42995689, 42995725-42995735
467VPS13B80.99983324995831211994100514071-100514072
468KCNQ380.9996181748759112619133492744
469SLURP180.4775641025641163312143822561-143822655, 143822680-143822684, 143823221-143823242, 143823249, 143823280, 143823289, 143823295-143823320, 143823771-143823780, 143823802-143823803
470CYP11B280.9940476190476291512143993951-143993953, 143999136-143999141
471PLEC80.70522945570971414314055144990372, 144990376-144990377, 144990574, 144990612, 144990775-144990778, 144990788, 144991286, 144992388-144992389, 144992447, 144992451, 144992461, 144992643-144992685, 144992828, 144992900, 144993055-144993057, 144993330-144993331, 144993662, 144993667, 144993691, 144993826-144993830, 144993885-144993888, 144994370, 144994376, 144994398-144994407, 144994472, 144994691, 144994700, 144994983, 144994999, 144995027-144995037, 144995413, 144995479-144995499, 144995550, 144995739-144995788, 144995817-144995854, 144995893-144995906, 144996196-144996213, 144996220-144996263, 144996269-144996293, 144996321-144996334, 144996466, 144996477, 144996532-144996537, 144996543-144996550, 144996706-144996743, 144996787, 144996798, 144996886, 144996889, 144996962, 144996978-144996979, 144996986, 144996999, 144997003-144997006, 144997064, 144997088-144997135, 144997198, 144997309-144997335, 144997390-144997414, 144997431-144997460, 144997477-144997487, 144997606, 144997704, 144997738-144997744, 144997793, 144997805-144997938, 144997987-144998112, 144998139-144998195, 144998213-144998285, 144998292-144998421, 144998434-144998583, 144998591-144998594, 144998600-144998603, 144998614-144998747, 144998753-144998754, 144998757, 144998760-144998761, 144998787-144998795, 144998807, 144998826-144998833, 144998847-144998950, 144998960-144999327, 144999343-144999344, 144999348-144999360, 144999370-144999457, 144999463-144999550, 144999570-144999574, 144999609, 144999637-144999658, 144999687, 144999690-144999693, 144999696-144999702, 144999712-144999734, 144999741-144999744, 144999749, 144999758-144999787, 144999795-144999899, 144999907, 144999910-144999932, 144999935-144999936, 144999941, 144999981-145000002, 145000031-145000043, 145000952-145000985, 145001014-145001017, 145001035-145001036, 145001145-145001150, 145001164-145001171, 145001179-145001181, 145001230-145001249, 145001420-145001422, 145001468-145001503, 145001588-145001619, 145001655, 145001663, 145001704-145001767, 145001776-145001785, 145001838-145001842, 145001848, 145001869-145001920, 145002025-145002052, 145002131-145002132, 145003273, 145003280-145003281, 145003325, 145003328-145003330, 145003375-145003421, 145003582-145003586, 145003608, 145003620-145003635, 145003651-145003682, 145003710-145003712, 145003814-145003861, 145003889, 145003895-145003900, 145003939-145003945, 145003990-145003997, 145004148-145004193, 145004216-145004230, 145004328-145004342, 145004372-145004441, 145004567-145004571, 145004576-145004578, 145004650, 145004660-145004664, 145004673, 145005702-145005731, 145005746-145005748, 145005801, 145005810-145005811, 145006115, 145006125-145006200, 145006298-145006402, 145006568-145006572, 145006588, 145006598-145006647, 145006651, 145006669-145006672, 145006684, 145006709, 145006803-145006831, 145006839-145006880, 145006961-145007038, 145007074-145007082, 145007085-145007087, 145007125-145007126, 145007139-145007140, 145007154-145007184, 145007230-145007237, 145007252, 145007369-145007389, 145007485-145007502, 145008166-145008229, 145008237-145008259, 145008561-145008572, 145008597-145008613, 145008803-145008815, 145008822-145008831, 145008871-145008898, 145008985-145008987, 145008995, 145008999-145009000, 145009004-145009022, 145009027-145009048, 145009052-145009053, 145009074-145009097, 145009180, 145009208-145009285, 145009366-145009400, 145009428, 145009445-145009455, 145009462-145009481, 145010039-145010077, 145010116, 145010142-145010182, 145011165-145011174, 145011219-145011239, 145011360-145011362, 145011400-145011410, 145012319, 145012335, 145012340, 145012346-145012350, 145012386, 145012395, 145024374-145024390, 145024402-145024474, 145024485, 145024488, 145024512, 145024520, 145024531, 145024571-145024577, 145024722-145024743, 145024769, 145024855, 145024873
472GPT80.315895372233410201491145729688-145729700, 145729722, 145729725-145729728, 145729734, 145729740, 145729743, 145729776-145729799, 145729810, 145729829, 145729832-145729833, 145729848, 145729989-145729996, 145730023-145730026, 145730036-145730039, 145730049, 145730054-145730056, 145730392, 145730401-145730427, 145730432-145730441, 145730450-145730451, 145730454-145730456, 145730466-145730475, 145730490-145730514, 145730629-145730862, 145730871-145730872, 145731232-145731310, 145731378-145731474, 145731480-145731514, 145731615-145731689, 145731695-145731701, 145731712-145731783, 145731901-145732039, 145732114-145732205, 145732215-145732226, 145732293-145732303, 145732306, 145732312-145732316, 145732326-145732332, 145732380-145732383
473RECQL480.4182519988971621103627145736814-145736867, 145736885, 145736888, 145736899, 145736907, 145736910, 145736917-145736938, 145737064-145737128, 145737165-145737169, 145737172, 145737322-145737450, 145737532-145737583, 145737593-145737707, 145737775-145737779, 145737788-145737802, 145737808-145737812, 145737816-145737817, 145737820-145737826, 145737839-145737944, 145738025-145738060, 145738070-145738154, 145738230-145738521, 145738601-145738607, 145738621-145738727, 145738738, 145738747-145738758, 145738768, 145738770-145738820, 145738833, 145738839, 145738844, 145738955-145739029, 145739035-145739096, 145739312-145739344, 145739362-145739474, 145739487, 145739589-145739590, 145739628-145739642, 145739675-145739707, 145739745-145739746, 145740338-145740357, 145740390, 145740449-145740452, 145740549-145740551, 145740571, 145740716-145740721, 145741168-145741204, 145741387, 145741406, 145741411, 145741421, 145741463, 145741510-145741536, 145741539-145741540, 145741562-145741578, 145741600, 145741615-145741622, 145741649-145741650, 145741661, 145741669-145741673, 145741676, 145741692-145741696, 145741709-145741758, 145741771-145741773, 145741813-145741853, 145741887-145741918, 145741929-145741958, 145741973-145742005, 145742015-145742016, 145742030-145742034, 145742068, 145742071, 145742109-145742123, 145742435-145742441, 145742495-145742525, 145742538-145742574, 145742799, 145742804-145742821, 145742843-145742859, 145742879, 145742884-145742892, 145742986-145743019, 145743085-145743152, 145743160-145743168
474VLDLR90.982456140350884626222622198-2622243
475GLIS390.99964196204798127934117959
476JAK290.995292733156811633995070044-5070052, 5077475-5077481
477GRHPR90.99696048632219398737426629-37426631
478ROR290.9950564971751414283294712194, 94712207-94712212, 94712223-94712229
479PTCH190.998388581952127434498270535-98270540, 98270597
480FOXE190.862745098039221541122100616266-100616284, 100616308-100616339, 100616697-100616757, 100616814-100616815, 100616821-100616826, 100616829-100616830, 100616833-100616838, 100617039, 100617123-100617147
481TGFBR190.9728835978836411512101867488-101867493, 101867499-101867504, 101867515-101867528, 101867538-101867543, 101867548-101867556
482NR5A190.865079365079371871386127245048-127245052, 127245167-127245177, 127253476, 127253486, 127255397, 127262370, 127262545-127262547, 127262597-127262600, 127262754-127262760, 127262813-127262821, 127262857, 127262861, 127262865, 127262869-127262879, 127265377-127265414, 127265432, 127265448-127265479, 127265498-127265499, 127265577-127265585, 127265619-127265666
483STXBP190.9972406181015551812130374710-130374714
484ENG90.99494183105716101977130616586, 130616592-130616599, 130616634
485DOLK90.9944341372912891617131708891-131708893, 131708896-131708898, 131709388-131709390
486POMT190.97107438016529632178134393911-134393914, 134394224-134394227, 134394254, 134394319-134394325, 134394830-134394863, 134397434-134397441, 134398323-134398326, 134398425
487SETX90.9995021160069748034135139875, 135139884-135139885, 135172291
488TSC190.9991416309012933495135771988-135771990
489CEL90.794804051078824662271135944583-135944589, 135945985-135946018, 135946596-135946990, 135947013-135947041, 135947063
490SURF190.84163898117386143903136219451, 136219456, 136220700-136220739, 136221725-136221727, 136223124-136223175, 136223276-136223318, 136223320-136223321, 136223329
491ADAMTS1390.920401493930913414284136293754-136293891, 136295073-136295091, 136295112, 136295131-136295160, 136298597, 136298601-136298627, 136301949-136301982, 136302016, 136302026-136302049, 136302907-136302913, 136303372-136303378, 136305638-136305645, 136308638-136308643, 136310113, 136310844-136310865, 136313731-136313732, 136320407-136320413, 136320484, 136320523, 136320723, 136324231-136324233
492DBH90.895361380798271941854136516756-136516785, 136516824-136516834, 136516860-136516871, 136521646-136521668, 136521706-136521738, 136522245, 136522248-136522252, 136522270-136522310, 136522336-136522351, 136523512-136523533
493SARDH90.881392818280743272757136529133, 136531894-136531973, 136535706-136535838, 136535847-136535874, 136536657-136536691, 136536726-136536731, 136536735, 136536747-136536771, 136555520-136555528, 136559485-136559492, 136573438
494COL5A190.894507884719965825517137534034-137534041, 137534053-137534128, 137582765, 137582872-137582881, 137582893-137582925, 137591755-137591793, 137591867-137591911, 137591925, 137591959-137591968, 137593123-137593179, 137623350, 137623474, 137642410-137642438, 137642647-137642669, 137642688, 137642697-137642724, 137642727-137642728, 137644443-137644470, 137645696-137645749, 137646145-137646166, 137648623, 137648631-137648635, 137650093-137650096, 137653771-137653778, 137653797-137653822, 137655570, 137655574-137655583, 137664679-137664680, 137676885-137676887, 137677882-137677883, 137693809, 137693813, 137693829, 137693833-137693841, 137703391-137703400, 137707801, 137710502-137710518, 137710585-137710588, 137710846-137710851, 137727022
495LHX390.713813068651783461209139089242, 139089280-139089282, 139089287-139089290, 139089322-139089355, 139089364-139089418, 139089462-139089470, 139089479, 139089533-139089549, 139089573-139089589, 139090522-139090536, 139090555, 139090598-139090614, 139090754, 139090768-139090770, 139090773-139090805, 139090832-139090835, 139090853-139090856, 139090874-139090905, 139091722, 139094792-139094885
496INPP5E90.822222222222223441935139325556, 139326276-139326280, 139326297-139326310, 139326315-139326317, 139326346-139326372, 139326434, 139326990-139326991, 139327003, 139327677-139327679, 139327685-139327686, 139327722-139327731, 139333085-139333087, 139333159-139333167, 139333222-139333225, 139333264-139333275, 139333302-139333334, 139333343, 139333347-139333348, 139333376-139333384, 139333441-139333446, 139333449, 139333452-139333457, 139333490-139333522, 139333555-139333569, 139333590-139333592, 139333595-139333612, 139333620-139333648, 139333687, 139333699-139333722, 139333743-139333796, 139333860-139333871
497NOTCH190.3688054251434548407668139390523-139390549, 139390576-139390582, 139390602-139390638, 139390692-139390737, 139390769-139390794, 139390822-139390964, 139391001-139391003, 139391006-139391009, 139391011-139391012, 139391023, 139391033-139391091, 139391117-139391166, 139391177-139391209, 139391254-139391302, 139391313-139391356, 139391372-139391378, 139391391-139391636, 139391656-139391744, 139391768-139391808, 139391832-139391879, 139391883, 139391903-139391913, 139391922-139391923, 139391932-139392002, 139393436-139393437, 139393573-139393593, 139393600-139393627, 139395004-139395061, 139395068-139395074, 139395084-139395124, 139395149-139395254, 139395264, 139395267, 139395298-139395299, 139396200-139396235, 139396271-139396365, 139396453-139396521, 139396734-139396749, 139396769-139396800, 139396868-139396940, 139397635-139397648, 139397756-139397771, 139399125-139399137, 139399144-139399256, 139399264-139399298, 139399302-139399304, 139399309, 139399353-139399391, 139399399-139399438, 139399461-139399467, 139399486-139399496, 139399499, 139399504-139399507, 139399514-139399517, 139399520-139399556, 139399779-139399791, 139399794-139399799, 139399816-139399937, 139399955-139400073, 139400136-139400295, 139400302-139400333, 139400979-139400983, 139401017, 139401052-139401067, 139401072, 139401079, 139401086, 139401175-139401181, 139401208-139401236, 139401284-139401319, 139401363-139401369, 139401763-139401773, 139401837, 139401841-139401844, 139401884-139401889, 139402407-139402443, 139402467-139402476, 139402489-139402491, 139402684-139402695, 139402726-139402789, 139402834-139402837, 139403339, 139403344-139403370, 139403419-139403423, 139403430-139403458, 139403474-139403482, 139403493-139403523, 139404185, 139404238-139404240, 139404339-139404370, 139404391-139404393, 139404400-139404401, 139405105, 139405128-139405153, 139405172, 139405175-139405194, 139405203-139405257, 139405604-139405605, 139405614, 139405643-139405683, 139405689, 139405692, 139407473-139407586, 139407845-139407855, 139407861, 139407865, 139407883-139407888, 139407910-139407979, 139408973-139408979, 139409001-139409064, 139409086-139409100, 139409147-139409154, 139409742-139409748, 139409770-139409771, 139409775-139409837, 139409845-139409848, 139409935-139409936, 139409950-139409951, 139409969-139410022, 139410034-139410072, 139410079-139410168, 139410439-139410479, 139410495, 139410499-139410503, 139410529-139410546, 139411729-139411837, 139412204-139412292, 139412307-139412389, 139412589-139412662, 139412680, 139412708-139412723, 139412726, 139412729-139412733, 139412739-139412744, 139413043-139413061, 139413073, 139413081, 139413104-139413134, 139413158-139413160, 139413171-139413190, 139413193, 139413202, 139413214-139413276, 139413895-139413898, 139413905, 139413909-139413911, 139413926-139413931, 139413934-139413940, 139413957, 139413965-139413966, 139413983-139414009, 139414017, 139417302-139417640, 139418169-139418431, 139438480, 139438485-139438486, 139438516, 139440179-139440238
498AGPAT290.6284348864994311837139568204-139568221, 139568235, 139568262-139568303, 139568368-139568379, 139569197-139569223, 139569226, 139571414, 139571558, 139571562, 139571566, 139571576-139571588, 139571918, 139571979-139571980, 139572001-139572008, 139581628-139581809
499SLC34A390.617222222222226891800140127051, 140127054-140127055, 140127064-140127073, 140127080-140127091, 140127241, 140127368, 140127456-140127470, 140127504-140127508, 140127684, 140127729, 140127741, 140127752, 140128092-140128094, 140128097, 140128107-140128139, 140128148-140128149, 140128315-140128390, 140128561-140128567, 140128573-140128648, 140128671-140128716, 140128726-140128728, 140128890-140128891, 140128894-140128902, 140128914-140128921, 140128951-140128984, 140129132, 140129139, 140129143, 140129146, 140130407-140130409, 140130418-140130491, 140130494-140130506, 140130512-140130522, 140130574-140130586, 140130603-140130689, 140130698-140130699, 140130711, 140130720-140130745, 140130759-140130838, 140130845-140130868
500EHMT190.83063895304086603897140513484-140513497, 140605439-140605482, 140611078-140611130, 140611136-140611314, 140611321-140611467, 140611473-140611480, 140611500-140611634, 140622930-140622948, 140638496-140638526, 140671280, 140728949-140728965, 140729323, 140729326, 140729330-140729338, 140729381
501SHOXX0.57110352673493377879591633-591858, 591873-591879, 591900-591909, 595353-595368, 595395-595396, 595433-595438, 595452-595561
502CSF2RAX0.5685823754789356313051401600-1401601, 1401625-1401626, 1401653-1401660, 1404671-1404722, 1404778-1404781, 1404787-1404790, 1407693-1407697, 1407766-1407768, 1409249, 1409292, 1409297-1409324, 1409346-1409394, 1413221-1413246, 1413272-1413354, 1414332-1414349, 1419384-1419412, 1419424, 1419438, 1419442, 1419451-1419496, 1419501-1419519, 1422154-1422255, 1422816-1422828, 1422844-1422879, 1422884-1422912
503KAL1X0.9985315712188320438699988-8699990
504ARXX0.9804618117229133168925031522, 25031525-25031526, 25031574-25031576, 25031653-25031678, 25031782
505DMDX0.9999095677337711105832398679
506RPGRX0.698178664353861044345938144869, 38144895, 38144903-38144909, 38145000-38145001, 38145010-38145018, 38145021-38145026, 38145051-38145079, 38145083-38145085, 38145113-38145118, 38145127, 38145163-38145914, 38145925, 38145929-38145969, 38145980, 38145986, 38145990-38146014, 38146041-38146047, 38146073-38146090, 38146128-38146136, 38146139-38146141, 38146144-38146148, 38146169-38146173, 38146241-38146258, 38146263, 38146305-38146306, 38146333, 38146338-38146341, 38146401, 38146445-38146498, 38147144-38147148, 38147156-38147162, 38147202-38147218, 38147227
507TSPAN7X0.99866666666667175038420878
508BCORX0.999810174639331526839931648
509NYXX0.9868603042876919144641333349-41333352, 41333359-41333369, 41333954-41333957
510ARX0.998914223669923276366765159-66765161
511EDAX0.996598639455784117668836319, 69247796-69247798
512TAF1X0.9825765575501699568270586180-70586242, 70586297-70586323, 70586328-70586331, 70586336-70586339, 70586343
513ABCB7X0.997789566755085226274293593-74293597
514BRWD3X0.999260491772974540980064940-80064943
515XIAPX0.9939759036144691494123025120-123025128
516FAM58AX0.990476190476197735152864508, 152864512-152864513, 152864516-152864519
517SLC6A8X0.857442348008392721908152954030-152954258, 152956958-152956964, 152959364-152959370, 152959465-152959472, 152960174-152960193, 152960591
518ABCD1X0.751117068811445572238152990722-152990761, 152990797, 152990803-152990827, 152990853, 152990856, 152990864, 152990876-152990882, 152990893, 152990930-152990938, 152990952-152990957, 152990981-152991001, 152991023-152991052, 152991074, 152991163-152991171, 152991193-152991214, 152991248-152991251, 152991336-152991338, 152991350-152991356, 152991380-152991399, 152991424-152991431, 152991463-152991502, 152991571-152991580, 153001640-153001664, 153001801-153001809, 153001822, 153001860-153001885, 153001916-153001918, 153002611, 153002672, 153005632-153005634, 153006085, 153006092-153006093, 153006127-153006156, 153008473-153008487, 153008675-153008678, 153008755-153008791, 153008943-153008956, 153008981-153008987, 153009002-153009066, 153009097-153009098, 153009115-153009155, 153009173-153009175
519MECP2X0.97261189044756411497153363061-153363101
520OPN1LWX0.9936073059360771095153418538-153418544
521OPN1MWX0.97260273972603301095153453474-153453496, 153459077-153459083
522OPN1MWX0.96986301369863331095153490592-153490614, 153496107, 153496121, 153496125, 153496195-153496201
523FLNAX0.950025176233643977944153577821, 153577881, 153580302-153580305, 153580622-153580628, 153581020, 153581684, 153581688, 153581710, 153583013, 153583016, 153583020-153583029, 153583411, 153585829, 153586567-153586589, 153586628, 153586842, 153587687-153587690, 153587750-153587754, 153587931, 153588008-153588014, 153588106-153588141, 153588164-153588205, 153588220-153588249, 153588270, 153588419-153588425, 153588429, 153588436-153588437, 153588444, 153588577-153588601, 153588649, 153588654-153588655, 153588739, 153588827, 153588862-153588868, 153589679, 153589787, 153589791-153589804, 153589807, 153590416, 153590441-153590450, 153591052-153591056, 153593189-153593190, 153593781-153593791, 153594400-153594423, 153594430, 153594709, 153594773, 153594821-153594823, 153595134, 153595174-153595180, 153596028, 153596039, 153599288-153599291, 153599412-153599417, 153599434-153599446, 153599477-153599516, 153599549-153599552, 153599555-153599556, 153599559, 153599563, 153599566, 153599569-153599572, 153599582, 153599591, 153599611-153599613
524EMDX0.9424836601307244765153608072-153608078, 153608081-153608084, 153608111-153608140, 153609455-153609457
525TAZX0.9822560202788314789153640214, 153640233-153640236, 153640289, 153640451, 153640512-153640518
526G6PDX0.99877899877921638153760253, 153760258
VariantPhase/
Zygosity
Allele freqImpactEvaluationSummary / Info
4FUT2-W154*homozygous0.491Recessive
protective
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
4FUT2-G258Shomozygous0.509Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.954 (probably damaging)
3COL4A1-Q1334Hhet unknown0.325Dominant
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.16 (benign), Testable gene in GeneTests with associated GeneReview
3COL4A1-T555Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
3COL4A1-V7Lhet unknown0.291Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5GNRHR-R139Hhet unknown0.000Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.988 (probably damaging), Testable gene in GeneTests with associated GeneReview
2.5MEFV-K695Rhet unknown0.002Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.917 (probably damaging), 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
2KCNE1-D85Nhet unknown0.009Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.066 (benign), Testable gene in GeneTests with associated GeneReview
2KCNE1-S38Ghomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
2SP110-E538Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
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-W112Rhomozygous0.917Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, 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
2NPC1-I858Vhomozygous0.445Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.061 (benign), Testable gene in GeneTests with associated GeneReview
2NPC1-M642Ihomozygous0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2NPC1-H215Rhomozygous0.296Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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-I2313Vhomozygous0.981Unknown
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-T98Ihomozygous0.247Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2CYP2C9-R144Chet unknown0.097Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.954 (probably damaging)
2CHIT1-V357V*het unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation, Testable gene in GeneTests
2CHIT1-G102Shomozygous0.281Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.057 (benign), Testable gene in GeneTests
2PAX8-F329Lhet unknown0.020Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.018 (benign), Testable gene in GeneTests
1.5PIGR-A580Vhet unknown0.248Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
1.5OPTN-M98Khet unknown0.061Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.031 (benign), Testable gene in GeneTests
1.5OPTN-K322Ehomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1.5CETP-A390Phet unknown0.039Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests
1.5CETP-V422Ihet unknown0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1.5AKAP10-I646Vhomozygous0.452Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5AKAP10-R249Hhomozygous0.446Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5CYP2A6-F392Yhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5CYP2A6-L160Hhet unknown0.017Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.045 (benign)
1.5LRP5-V667Mhet unknown0.041Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 0.96 (probably damaging), Testable gene in GeneTests with associated GeneReview
1.5LRP5-A1330Vhet unknown0.110Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, 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)
1.5TPMT-E98*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1SEBOX-L207Shet unknown0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SEBOX-W10ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CLECL1-S52Shifthomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ATG9B-A790Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ATG9B-A765ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1INSR-A2GhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
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
1VDR-M1Thomozygous0.676Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
1KCP-D621VhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
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
1TAS2R38-I296Vhet unknown0.463Unknown
benign
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.984 (probably damaging)
1TAS2R38-A262Vhet unknown0.473Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
1TAS2R38-A49Phet unknown0.431Unknown
benign
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1COL2A1-G1405Shomozygous0.069Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1C8orf49-G26RhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1C8orf49-I81VhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1C8orf49-C194*homozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1TNXB-R48PhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1KRTAP7-1-Y17ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TRIM64-I58ThomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-V68LhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-R162ShomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1TRIM64-V238MhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-E242VhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-Q358RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-Q405RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1TRPC6-A404Vhomozygous0.085Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.937 (probably damaging), Testable gene in GeneTests
1TRPC6-P15Shet unknown0.061Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1TSEN54-I137Lhet unknown0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.846 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1TSEN54-K347Nhet unknown0.535Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.968 (probably damaging), Testable gene in GeneTests with associated GeneReview
1TSEN54-A437Vhet unknown0.659Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
1TSEN54-P483Ahet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
1KCNJ11-V337Ihet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1KCNJ11-L270Vhet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1KCNJ11-K23Ehet unknown0.738Unknown
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TYR-S192Yhet unknown0.271Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.919 (probably damaging), Testable gene in GeneTests with associated GeneReview
1TYR-R402Qhet unknown0.205Complex/Other
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview
1B3GNT6-L316ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1B3GNT6-L335ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1MS4A14-I56ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1MS4A14-N177Yhet unknown0.640Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
1MS4A14-G584Rhet unknown0.574Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
1MS4A14-Q612Hhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.952 (probably damaging)
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
1HLA-DQB1-V235Ihet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-S233Ghet unknown0.082Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-T217Ihet unknown0.179Unknown
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-R199Hhet unknown0.191Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-A172Thet unknown0.324Unknown
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-D89Ahet unknownUnknown
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-G77Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQB1-G45Ahet unknown0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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-LL28PVhet unknown0.156Unknown
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-V15Ahet unknown0.268Unknown
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
1ATXN7-K264Rhet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.949 (probably damaging), Testable gene in GeneTests with associated GeneReview
1ATXN7-V862Mhet unknown0.394Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FERMT1-R526Khomozygous0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1FERMT1-R255Chet unknown0.064Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
1FERMT1-I160Thet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.004 (benign), Testable gene in GeneTests
1ZNF273-H256Nhomozygous0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.978 (probably damaging)
1HLA-DQA1-L8Mhomozygous0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-A11Thet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-C34Yhet unknown0.450Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-F41Shomozygous0.425Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-T49Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q57Ehet unknown0.265Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-E63Ghet unknown0.255Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-A68Vhomozygous0.354Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-R70QhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-W71Lhomozygous0.155Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-E73LhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-S75Rhomozygous0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-K76Rhomozygous0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-G84Fhomozygous0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-R87Thomozygous0.259Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-M89Ihomozygous0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-A92Lhet unknown0.151Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-IM98SLhet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-IM98SLhet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Y103Shomozygous0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-T130Ihet unknown0.242Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q152Hhomozygous0.407Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q198Ehet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q198Ehet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-M230Vhomozygous0.700Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-F238Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q241Rhomozygous0.421Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TGIF1-P83Shifthet unknown0.139Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests with associated GeneReview
1TGIF1-P292Shet unknown0.060Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NR_027052-Q90*homozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1HPS1-V631Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HPS1-G283Whomozygous0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.026 (benign), Testable gene in GeneTests with associated GeneReview
1SCARF2-A832Ghomozygous0.650Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SCARF2-A814Ghet unknown0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SCARF2-DV772ELhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1SCARF2-E764ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SCARF2-P747ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SCARF2-A745ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SLC38A10-E676Dhomozygous0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.92 (probably damaging)
1SLC38A10-K559Rhomozygous0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.813 (possibly damaging)
1ADAM3A-L329ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ADAM3A-R215GhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ADAM3A-G95ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NR_027127-W61*homozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1ZNF761-L47ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF761-I122Shet unknown0.686Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-V168Ihet unknown0.770Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-G528Shet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-E603Qhet unknown0.403Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1GPR98-L127Rhet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.654 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1GPR98-L1093Fhet unknown0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GPR98-V1951Ihet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GPR98-P1987Lhet unknown0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.366 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1GPR98-Y2232Chet unknown0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.989 (probably damaging), Testable gene in GeneTests with associated GeneReview
1GPR98-N2345Shet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
1GPR98-N2584Shet unknown0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GPR98-E3471Khet unknown0.758Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GPR98-E3867Khet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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-V5876Ihet unknown0.432Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.94 (probably damaging), Testable gene in GeneTests with associated GeneReview
1PCSK1-S690Thet unknown0.235Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.061 (benign), Testable gene in GeneTests
1PCSK1-Q665Ehet unknown0.247Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1PCSK1-N221Dhet unknown0.036Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
1VSIG10L-Q860ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1VSIG10L-R592Qhet unknown0.563Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1VSIG10L-M356Ihet unknown0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1VSIG10L-N3Thet unknown0.605Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1TLR5-F822Lhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1TLR5-F616Lhet unknown0.334Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.011 (benign)
1TLR5-R392*het unknown0.044Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1TLR5-Q181Khet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1DPYD-V732Ihet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.905 (probably damaging), Testable gene in GeneTests
1DPYD-K259Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1DPYD-R29Chet unknown0.714Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1IL23R-Q3Hhet unknown0.520Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
1IL23R-L310Phomozygous0.838Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1IL23R-R381Qhet unknown0.048Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
1DGKK-L1014ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1HADHB-T2TThomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1FAM58A-Q15ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
1TRPM1-P1379Thomozygous0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.063 (benign), Testable gene in GeneTests
1TRPM1-S32Nhomozygous0.794Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1TRPM1-M1Thomozygous0.831Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1PADI6-V343Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TCEAL6-Q175Shifthomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1RGPD4-D761GhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1GPHB5-F53Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NPRL3-L489Shifthomozygous0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF598-P640Lhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF598-G42ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF598-G6ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1DEFB126-Q55Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1DEFB126-P106Shifthomozygous0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CYP11B2-V386Ahomozygous0.063Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1PIK3R6-L609ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SPERT-S286*homozygous0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1SPERT-K329Ehomozygous0.599Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1AK124052-A117ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1F5-D2222Ghet unknown0.045Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-M1764Vhet unknown0.291Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-N817Thet unknown0.046Unknown
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
1F5-M413Thet unknown0.058Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HSH2D-S223Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TMPO-Q599Ehet unknown0.071Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.878 (probably damaging), Testable gene in GeneTests with associated GeneReview
1ATP6V0A2-A813Vhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview
1HTT-G893Rhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
1HTT-V1064Ihet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HTT-E2643Delhet unknown0.023Unknown
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
1ADRB2-G16Rhet unknown0.413Unknown
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
1ADRB2-T164Ihet unknown0.011Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
1AK300656-R11*homozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1GABRG2-I215VhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1GABRG2-G235Chet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1PLEKHA2-P389Shifthomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.875MTRR-I49Mhet unknown0.451Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.875MTRR-S202Lhet unknown0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75ANKK1-A239Thet unknown0.228Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.852 (probably damaging)
0.75ANKK1-G442Rhet unknown0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75ANKK1-E713Khet unknown0.237Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CHRNA5-D398Nhet unknown0.249Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.75ERCC6-Q1413Rhet unknown0.189Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.75ERCC6-R1213Ghet unknown0.197Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.75ERCC6-M1097Vhet unknown0.190Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75ERCC6-D425Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75BLMH-I443Vhet unknown0.285Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75ITGAM-R77Hhet unknown0.105Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.048 (benign)
0.75ITGAM-A859Vhet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75ITGAM-P1147Shet unknown0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75AURKA-I57Vhet unknown0.836Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75AURKA-F31Ihet unknown0.188Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.625UNC13D-K867Ehet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625UNC13D-W822Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.625UNC13D-A59Thet unknown0.017Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625OBSL1-R1767Qhet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625OBSL1-Q1578Rhomozygous0.962Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625OBSL1-E1365Dhet unknown0.702Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.625OBSL1-T737Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.625OBSL1-R723Khomozygous0.827Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.5EMP3-I125Vhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.878 (probably damaging)
0.5ERCC2-K751Qhet unknown0.319Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ERCC2-D312Nhet unknown0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.032 (benign), Testable gene in GeneTests with associated GeneReview
0.5ABAT-Q56Rhomozygous0.514Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AK311524-V28Ahomozygous0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AK311524-W181Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5KCNC3-D63Ghomozygous0.680Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OR2C1-C149Whomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OR2C1-F273Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZNF224-M118Vhomozygous0.872Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF224-H162Lhomozygous0.879Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.262 (possibly damaging)
0.5ZNF224-K640Ehomozygous0.713Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAM187B-W231*het unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5FAM187B-V216Ihomozygous0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5FAM187B-W188*homozygous0.324Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5FAM187B-C160Rhomozygous0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SALL1-V1275Ihomozygous0.988Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ESPN-G454Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ESPN-A457Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DLL3-F172Chet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DLL3-L218Phet unknown0.593Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CD19-L174Vhomozygous0.768Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LYPD4-T184Shet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.983 (probably damaging)
0.5PRX-G1132Rhomozygous0.955Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-A1091Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-P1083Rhet unknown0.130Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.793 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5PRX-I921Mhet unknown0.364Unknown
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
0.5PDILT-G529Ehomozygous0.468Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PDILT-R527Khomozygous0.473Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PDILT-P415Shet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5PDILT-A26Thet unknown0.333Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NAPSA-A310Thet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5KLK13-H109Yhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.953 (probably damaging)
0.5ABCG8-Y54Chet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.01 (benign), Testable gene in GeneTests
0.5ABCG8-T400Khet unknown0.220Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.157 (benign), Testable gene in GeneTests
0.5ABCG8-V632Ahomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ADPGK-P93Shifthet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MSH6-G39Ehet unknown0.182Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.873 (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
0.5FBN1-C472Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CEP152-L914Vhet unknown0.057Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR2E3-T318Shifthomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.5CYP1A1-T461Nhet unknown0.036Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign)
0.5CYP1B1-V432Lhet unknown0.445Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYP1B1-A119Shet unknown0.339Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYP1B1-R48Ghet unknown0.349Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNNT1-E12Ghet unknown0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RNF151-V66Ihet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5RNF151-H130Qhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging)
0.5RNF151-I242Vhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ZNF480-C3Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5C2orf71-S1225SShet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5C2orf71-L792Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CACNA1H-D946Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CACNA1H-G1445Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CACNA1H-R2060Hhet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SLC28A1-R510Chet unknown0.041Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SLC28A1-D521Nhet unknown0.360Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PDE8A-L55Vhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ALK-I1461Vhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IL12RB1-G378Rhomozygous0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5IL12RB1-M365Thomozygous0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IL12RB1-Q214Rhomozygous0.251Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IL12RB1-R156Hhet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.029 (benign), Testable gene in GeneTests
0.5BRCA1-S1634Ghet unknown0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BRCA1-K1183Rhet unknown0.295Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BRCA1-E1038Ghet unknown0.278Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5BRCA1-P871Lhet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BRCA1-D693Nhet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.5KRT40-C349Rhet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.81 (possibly damaging)
0.5KRT40-C265Yhet unknown0.627Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KRT40-R108Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5RNF157-G208Rhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.859 (probably damaging)
0.5SLFN14-Y770Fhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging)
0.5SLFN14-K385Ehomozygous0.627Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLFN14-P356Shomozygous0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLFN14-V172Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SLFN13-K658Nhet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SLFN13-E652Khomozygous0.578Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLFN13-A523Thet unknown0.168Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.5SLFN13-S235Fhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.888 (probably damaging)
0.5DSG2-I293Vhet unknown0.063Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5LAMA3-P1208Thet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LAMA3-N2815Khet unknown0.152Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LAMA3-S2834Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GAA-H199Rhet unknown0.673Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GAA-R223Hhet unknown0.673Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GAA-V780Ihomozygous0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC12A1-R116Hhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC12A1-V958Ahomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRTAP4-8-A168Thet unknown0.682Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KRTAP4-8-C30*het unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5KRTAP4-8-P27Hhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5DHX58-Q425Rhomozygous0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DHX58-R95Qhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.296 (possibly damaging)
0.5DHX58-T76Ahet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5ABI3-R44Qhet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ABI3-F209Shomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EPN3-R170Hhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.933 (probably damaging)
0.5EPN3-P544Thet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SCN4A-N1376Dhet unknown0.602Unknown
not reviewed
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
0.5JUP-M697Lhomozygous0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAI2-A558Thomozygous0.767Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CACNG1-G196Shet unknown0.084Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5LOXHD1-A2036Vhet unknown0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LOXHD1-N1872Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LOXHD1-R1155Ghomozygous0.792Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LOXHD1-V363Ihet unknown0.076Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LOXHD1-M1Khet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO5B-L1055LLhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO5B-T126Ahomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AKAP8-R295Chet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging)
0.5MYH13-R1822Whet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5MYH13-M1071Vhomozygous0.642Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.025 (benign)
0.5MYH13-G701Rhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.978 (probably damaging)
0.5FAM125A-D249Nhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5CTNS-T260Ihomozygous0.828Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC7A6OS-Y220Chet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.5SLC7A6OS-G45Dhomozygous0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TAF1C-R722Hhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TAF1C-L481Mhomozygous0.292Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TAF1C-C24Yhomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CENPBD1-T168Ihet unknown0.667Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5CENPBD1-C150Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CENPBD1-E35Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NOTCH3-A2223Vhomozygous0.730Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CACNA1A-E992Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CACNA1A-E917Dhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABHD15-R448Qhet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.996 (probably damaging)
0.5ABHD15-T334Ahet unknown0.696Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ATP8B1-A1152Thomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SSH2-G1398Shet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.5SSH2-S743Lhet unknown0.271Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.5CTDP1-S61Ahomozygous0.659Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MAP2K3-P40Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.968 (probably damaging)
0.5MAP2K3-R55Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MAP2K3-S68Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.029 (benign)
0.5MAP2K3-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)
0.5MAN2B1-N413Shet unknown0.082Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.489 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5ADAMTS10-H1101Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADAMTS10-T134Shet unknown0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5STXBP2-I526Vhomozygous0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SUCLA2-S199Thomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SPG11-F463Shomozygous0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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
0.5EPHX1-Y113Hhet unknown0.257Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5EPHX1-H139Rhet unknown0.248Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LEFTY2-P286Lhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5ADSS-K226Rhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5EDARADD-M9Ihomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-E3411Ahomozygous0.573Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-R2292Hhet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-I2169Thomozygous0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-I2106Thet unknown0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-I1665Thet unknown0.112Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.3 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5USH2A-R1486Khet unknown0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview
0.5USH2A-A125Thet unknown0.719Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NAV1-Q937Hhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging)
0.5FCRLB-T32Ihet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5DDR2-M441Ihet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5XCL2-R29Khet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5XCL2-H28Dhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign)
0.5CACNA1S-R1539Chet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CACNA1S-S606Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-L3132Rhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-L2647Ihet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-S2562Ghet unknown0.317Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ASPM-Y2494Hhomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PITRM1-Q1037Rhomozygous0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PITRM1-V621Ihet unknown0.154Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.782 (possibly damaging)
0.5PITRM1-A397Vhomozygous0.682Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PITRM1-I328Vhomozygous0.688Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PITRM1-F169Shet unknown0.175Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.939 (probably damaging)
0.5PITRM1-L145Vhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TUBAL3-R250Whet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
0.5SLC29A3-R18Ghet unknown0.488Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-S158Fhomozygous0.618Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-V239Ihomozygous0.864Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC29A3-I326Vhomozygous0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CDH23-S494Nhet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-N1280Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
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
0.5CDH23-T1996Shomozygous0.414Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYOF-F1400Lhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ABCC2-Y39Fhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CYP2C8-K399Rhet unknown0.087Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5CYP2C8-R139Khet unknown0.087Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0.5ADAMTS14-S270Lhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5ADAMTS14-L593Phomozygous0.808Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ADAMTS14-L940Mhet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CHAT-A120Thet unknown0.184Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.013 (benign), 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
0.5CUBN-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
0.5SLC39A12-S36Ghet unknown0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC39A12-V304Ihomozygous0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC39A12-Q342Rhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging)
0.5MYO3A-R319Hhomozygous0.488Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-I348Vhomozygous0.680Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-V369Ihomozygous0.661Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-A833Shet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.5MYO3A-S956Nhomozygous0.520Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-T1284Shomozygous0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.5MYO3A-R1313Shomozygous0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ARHGAP22-T410Khet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5PTCHD3-*768Qhomozygous0.630Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-I584Mhomozygous0.960Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-M521Thomozygous0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-D473Ghomozygous0.630Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.849 (possibly damaging)
0.5PTCHD3-C407Ghet unknown0.419Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5PTCHD3-S309Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5USP21-G321Dhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging)
0.5IGSF9-G34Ehet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5TMEM54-L110Fhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.926 (probably damaging)
0.5A3GALT2-T106Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5GJB4-C169Whet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
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
0.5POMGNT1-M623Vhomozygous0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5BSDC1-I234Vhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SPOCD1-P1089Shet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
0.5SPOCD1-R436Whet unknown0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.942 (probably damaging)
0.5SPOCD1-T109Ahet unknown0.669Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5KIF1B-V1554Mhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CLCNKB-R27Lhomozygous0.523Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-A214Ghomozygous0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-A287Vhomozygous0.811Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-M562Thomozygous0.889Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CLCNKB-K578Ehet unknown0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CDA-K27Qhomozygous0.262Unknown
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
0.5FUCA1-Q286Rhet unknown0.264Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.004 (benign), Testable gene in GeneTests
0.5FUCA1-R2Whet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.928 (probably damaging), Testable gene in GeneTests
0.5EFCAB7-V324Ihet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.956 (probably damaging)
0.5DBT-S384Ghomozygous0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-Q1914Rhet unknown0.068Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLG-S1352Rhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GBA-K144Rhomozygous0.619Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GBA-R140Whet unknown0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RHBG-V143Dhet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RHBG-G315Rhomozygous0.458Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RHBG-P424Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5RHBG-H428Rhet unknown0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DARC-G42Dhomozygous0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DARC-R89Chet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5DARC-A100Thomozygous0.124Unknown
not reviewed
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)
0.5ZNF687-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)
0.5NOTCH2-P210Lhet unknown0.333Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NOTCH2-S106Phet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.021 (benign), Testable gene in GeneTests with associated GeneReview
0.5GSTM1-S210Thomozygous0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL11A1-P1548Ahet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-S1547Phomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-P1335Lhet unknown0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PTPN22-W620Rhomozygous0.934Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTGFRN-S277Thet unknown0.657Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTGFRN-R430Qhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.869 (probably damaging)
0.5PTGFRN-V837Ihet unknown0.396Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SPAG17-H2160Qhet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5SPAG17-L2036Qhet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TTF2-K167Ehomozygous0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.012 (benign)
0.5TTF2-K1134Rhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.949 (probably damaging)
0.5SCD-M224Lhomozygous0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL17A1-D1370Ghet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.5STON1-GTF2A1L-K8Nhet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5STON1-GTF2A1L-R127Thet unknown0.330Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5STON1-GTF2A1L-Q607Hhet unknown0.449Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5STON1-GTF2A1L-N963Dhet unknown0.219Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5STON1-GTF2A1L-T1043Ahet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5NR_028064-G139Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NR_028064-H49Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_028064-H41Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TEP1-S1195Phomozygous0.618Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-R1055Chet unknown0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-N307Khet unknown0.297Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYH6-A1130Thet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYH6-V1101Ahet unknown0.461Unknown
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
0.5RPGRIP1-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
0.5RPGRIP1-E1033Qhet unknown0.262Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RPGRIP1-Y1143Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC25A15-I254Lhomozygous0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FREM2-S745Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FREM2-R1840Whet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5FREM2-T2326Ihomozygous0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KNTC1-H748Rhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.966 (probably damaging)
0.5SGCG-N287Shomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5B3GALTL-E370Khomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.5CSNK1A1L-R170Shet unknown0.084Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.9 (probably damaging)
0.5CSNK1A1L-D42Ehomozygous0.514Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BRCA2-N372Hhet unknown0.237Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BRCA2-V2466Ahomozygous0.977Dominant
benign
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
0.5GMPR2-G242Dhet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5TJP1-D1347Ahet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5ZFYVE19-R48Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZFYVE19-S376Ahet unknown0.752Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5PLA2G4E-A39Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PLA2G4E-C5Rhet unknown0.356Unknown
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
0.5STRC-R1521Qhet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.5SPATA7-V74Mhomozygous0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GALC-T641Ahomozygous0.959Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GALC-I562Thomozygous0.524Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.167 (benign), Testable gene in GeneTests with associated GeneReview
0.5C14orf104-D768Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5C14orf104-E62Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE2-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
0.5ZFYVE26-N1891Shomozygous0.942Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZFYVE26-C1457Yhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.5MLH3-P844Lhomozygous0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5MLH3-N826Dhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SIPA1L1-P56Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.679 (possibly damaging)
0.5HNF1A-A98Vhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SH2B3-W262Rhomozygous0.634Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ROM1-G118Ahomozygous0.938Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests
0.5MEN1-T546Ahomozygous0.908Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5C2CD3-S1663Nhet unknown0.052Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.967 (probably damaging)
0.5C2CD3-R1219Qhomozygous0.377Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ATM-N1983Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DYNC2H1-Q304Lhet unknown0.048Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.854 (probably damaging), Testable gene in GeneTests
0.5DYNC2H1-N1576Khet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DYNC2H1-R2871Qhomozygous0.756Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CD6-P105Lhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5CD6-T217Mhet unknown0.177Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.975 (probably damaging)
0.5CD6-A257Vhet unknown0.552Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CD6-T539Ahet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5CD6-G606Shet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PEX16-V116Ihomozygous1.000Unknown
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
0.5PRLHR-P305Lhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.725 (possibly damaging)
0.5PRLHR-I283Vhomozygous0.979Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SBF2-Q1216Ehet unknown0.081Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.03 (benign), Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-G102Shomozygous0.369Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-F124Shomozygous0.799Unknown
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
0.5INSC-D333Nhet unknown0.060Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging)
0.5TTC12-M73Lhet unknown0.397Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TTC12-M468Lhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5DRD2-P310Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ARHGAP9-S370Ahet unknown0.487Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ARHGAP9-R50Ghet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.979 (probably damaging)
0.5NAV3-V20Mhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.891 (probably damaging)
0.5NAV3-T45Ahomozygous0.973Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PLEKHG7-D99Ghet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5PLEKHG7-M212Thomozygous0.507Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.016 (benign)
0.5TRPV4-P19Shet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5MMAB-M239Khomozygous0.598Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MMAB-R19Qhet unknown0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-R50Hhomozygous0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-S1647Thet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-M2397Thet unknown0.614Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GYS2-M363Vhomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5WNK1-T1056Phomozygous0.850Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-C1506Shomozygous0.985Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-M1808Ihet unknown0.432Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWA5A-R757Chet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.976 (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-T789Ahomozygous0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.5VWF-H484Rhet unknown0.503Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.83 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5SCNN1A-T722Ahomozygous0.769Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SCNN1A-W552Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GSG1-F39Lhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.984 (probably damaging)
0.5GNB3-G272Shet unknown0.053Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.184 (benign)
0.5ZNF781-T97Mhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5CPN2-Q509Whet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PROP1-N20Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL23A1-T287Ahomozygous0.536Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.009 (benign)
0.5COL23A1-R267Whet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5BC040901-C89Whomozygous0.706Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BC040901-P93Shomozygous0.548Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BC040901-A106Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZNF192-G296Shet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5FLT4-R1324Lhet unknown0.090Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5F12-A207Phomozygous0.976Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NSD1-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
0.5NR_003131-M159Vhet unknown0.274Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NR_003131-Q17Shifthet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SPINK5-Q267Rhomozygous0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-A335Vhomozygous0.440Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-S368Nhomozygous0.428Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-K420Ehomozygous0.433Unknown
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
0.5GM2A-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
0.5MSX2-M129Thomozygous0.753Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC36A3-R190Hhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.371 (possibly damaging)
0.5SLC36A3-K167Ehet unknown0.494Unknown
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-G109Shet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-R141Qhet unknown0.188Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-S182Whet unknown0.392Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-C238Shomozygous0.729Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MDC1-R1883Qhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging)
0.5NFKBIE-V194Ahet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5NFKBIE-P175Lhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5AARS2-V730Mhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging)
0.5AARS2-I339Vhomozygous0.886Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PKHD1-Q4048Rhomozygous0.524Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-Q3899Rhomozygous0.522Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-L1870Vhomozygous0.952Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL9A1-Q621Rhomozygous0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EFHC1-R159Whet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.057 (benign), Testable gene in GeneTests
0.5CAPN11-I145Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CAPN11-V266Mhet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.013 (benign)
0.5CUL7-Q813Rhomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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
0.5PSORS1C1-E34Khet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5PSORS1C1-R37Shifthet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5PSORS1C1-P133Lhet unknown0.166Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HSPA1L-E602Khomozygous0.237Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HSPA1L-T493Mhomozygous0.873Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5COL11A2-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
0.5TNXB-G2518Ehomozygous0.685Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-H1161Rhomozygous0.477Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SRA1-V110RLhomozygous0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FBXL21-N31Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5FBXL21-V172Delhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5FBXL21-P208Lhet unknown0.782Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ADH1B-H48Rhomozygous0.963Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MANBA-T701Mhomozygous0.552Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MANBA-V253Ihet unknown0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5HADH-L86Phomozygous0.847Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HADH-F92Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KIAA1109-I978Thet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIAA1109-S2521Rhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.385 (possibly damaging)
0.5CFI-T300Ahomozygous0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MMRN1-T58Ahet unknown0.088Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5MMRN1-R1227Lhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5CDS1-L99Fhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EVC-Q74Phet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
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
0.5TLR6-S249Phomozygous0.695Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CNGA1-S3Fhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CNGA1-E2Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CCDC158-R134Qhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5EPHA5-N81Thet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.978 (probably damaging)
0.5MMAA-Q363Hhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR3C2-V180Ihomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HSD17B4-R106Hhomozygous0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.547 (possibly damaging), Testable gene in GeneTests
0.5HSD17B4-I559Vhomozygous0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.111 (benign), Testable gene in GeneTests
0.5ZNF474-R95Qhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.868 (probably damaging)
0.5ZNF474-S274Chet unknown0.226Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.354 (possibly damaging)
0.5FBN2-V965Ihomozygous0.665Unknown
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
0.5SLC22A4-I306Thomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SLC22A4-L503Fhomozygous0.304Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AP3B1-V585Ehomozygous0.932Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5HEXB-L62Shomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AGA-T149Shomozygous0.923Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DCHS2-H2633Yhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5DCHS2-K2475Rhet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5DCHS2-E1595Qhet unknown0.141Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DCHS2-S1205Lhet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.993 (probably damaging)
0.5DCHS2-N897Shet unknown0.891Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5DCHS2-S344Lhomozygous0.982Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DCHS2-A321Vhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.5DCHS2-H174Rhet unknown0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.317 (possibly damaging)
0.5UFSP2-K103Rhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging)
0.5DNAH5-I4450Vhet unknown0.528Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-A4134Vhet unknown0.461Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-I766Lhet unknown0.518Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.026 (benign), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-T558Ahet unknown0.330Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.791 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-G24Ehet unknown0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-H12Qhomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IL7R-I66Thomozygous0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IL7R-V138Ihomozygous0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IL7R-I356Vhet unknown0.294Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-E277Khomozygous0.756Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-Q239Hhet unknown0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-L201Shomozygous0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-G175Dhet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AMACR-V9Mhet unknown0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LCA5-G656Dhet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LCA5-D26Ahet unknown0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5LCA5-L24Shomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5ELOVL4-E272Qhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5BAAT-R20Qhomozygous0.627Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.136 (benign), Testable gene in GeneTests
0.5ABCA1-K1587Rhet unknown0.582Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCA1-R219Khet unknown0.393Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IKBKAP-I816Lhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IKBKAP-G765Ehet unknown0.257Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IKBKAP-R525Qhet unknown0.079Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-N796Khet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-V783Ahet unknown0.412Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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-M613Thet unknown0.492Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-A440Thet unknown0.182Unknown
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
0.5MUSK-S159Ghet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5MUSK-M413Ihet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.5IPPK-L376Fhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.865 (probably damaging)
0.5ROR2-V819Ihet unknown0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ROR2-T245Ahomozygous0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GSDMC-M475Thomozygous0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GSDMC-P23Shet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging)
0.5ZC3H3-P857Shet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5ZC3H3-A228Shet unknown0.141Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.068 (benign)
0.5ZC3H3-E151Dhet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAM154A-A422Vhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5FAM154A-K345Rhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5FAM154A-C313Whet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.087 (benign)
0.5FAM154A-P63Shomozygous0.819Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAM154A-K27Ehomozygous0.530Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.387 (possibly damaging)
0.5TJP2-D482Ehomozygous0.756Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TJP2-M668Ihet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5DNAI1-A8Shet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), 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
0.5PTGS1-W8Rhomozygous0.947Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTGS1-L237Mhet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5OPHN1-V39Ihet unknown0.057Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.007 (benign), Testable gene in GeneTests
0.5PGAM4-R86Hhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5ATP7A-E1350Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OPN1LW-L153Mhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GABRE-P437Lhet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5GABRE-P421Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5GABRE-S102Ahomozygous0.611Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.902 (probably damaging)
0.5CACNA1F-R1930Hhet unknown0.060Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMD-R2937Qhomozygous0.957Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMD-K2366Qhet unknown0.201Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.875 (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-D882Ghomozygous0.650Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-I1386Vhomozygous0.691Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-G1252Rhomozygous0.690Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-D1192Ehomozygous0.790Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABO-P353Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ABO-P155Lhet unknown0.112Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABO-S74Phomozygous0.779Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABO-H63Rhomozygous0.703Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABO-F36Vhomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FCN1-T150Mhet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5KAL1-V534Ihomozygous0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ARSE-G424Shomozygous0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5PEX2-C184Rhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NKX3-1-R52Chet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.788 (possibly damaging)
0.5DAGLB-L456Vhet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging)
0.5MACC1-S515Lhet unknown0.259Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.09 (benign)
0.5MACC1-A151Vhet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5MACC1-L31Vhet unknown0.060Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH11-E34Lhet unknown0.368Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-V1023Ahet unknown0.350Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T1038Ahomozygous0.816Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-N2641Shet unknown0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-A3474Thet unknown0.350Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-V3715Lhet unknown0.603Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-M4172Vhet unknown0.718Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T4177Ihet unknown0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GARS-P42Ahomozygous0.744Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HOXA1-R73Hhomozygous0.728Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PMS2-M622Ihet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.591 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5PMS2-K541Ehomozygous0.874Unknown
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
0.5WISP3-Q74Hhomozygous0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LAMA2-R619Hhet unknown0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LAMA2-R1844Shet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LAMA2-A2585Vhomozygous0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE1-L8741Mhet unknown0.104Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-F7302Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-L5015Mhomozygous0.808Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-S4596Thomozygous0.793Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-K4121Rhet unknown0.784Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-K4121Rhet unknown0.784Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-E4060Dhet unknown0.566Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5SOD2-V16Ahomozygous0.476Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FNDC1-S36Phet unknown0.253Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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
0.5TXNDC3-R43Khet unknown0.286Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TXNDC3-C208Rhomozygous0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TXNDC3-R390Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, 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
0.5GLI3-P998Lhet unknown0.252Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GLI3-T183Ahomozygous0.666Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATP6V0A4-V2Ahomozygous0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KCNH2-K897Thet unknown0.169Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-R171Shomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-R304Ihet unknown0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D314Hhet unknown0.681Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D392Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-T682Nhet unknown0.131Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5HR-Q528Rhet unknown0.077Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.293 (possibly damaging)
0.5HR-L526Phet unknown0.210Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HR-C397Yhet unknown0.071Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.928 (probably damaging)
0.5HR-G337Dhet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NAT2-I114Thomozygous0.398Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BC032716-Y42Shifthet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SERPINE1-A15Thet unknown0.084Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.5DDC-M17Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CCM2-V53Ihet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview
0.5MLXIPL-A358Vhet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.345 (possibly damaging)
0.5MLXIPL-Q241Hhet unknown0.093Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.697 (possibly damaging)
0.5ABCB1-S893Ahet unknown0.683Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABCB1-N21Dhet unknown0.074Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP3A7-R409Thomozygous0.762Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL1A2-P549Ahomozygous0.798Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AX746964-G175Shifthet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AX746964-K166Ihet unknown0.628Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HPS4-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-E224Ghomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFC1-W78Rhomozygous0.966Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TMC2-R123Khomozygous0.657Unknown
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)
0.5GBE1-T507Ahet unknown0.054Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GBE1-I334Vhomozygous0.980Unknown
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-A2960Delhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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
0.5LMOD3-R83Hhet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5SEC14L4-E211Dhet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.94 (probably damaging)
0.5SEC14L4-S3Ghet unknown0.228Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PPARG-P12Ahet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.979 (probably damaging), Testable gene in GeneTests
0.5ATIC-T116Shomozygous0.248Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5DBI-M71Vhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.297 (possibly damaging)
0.5KIAA1407-E696Dhet unknown0.105Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.941 (probably damaging)
0.5KIAA1407-R374Whet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ABHD12-A349Thet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.453 (possibly damaging)
0.5PHLDB2-C349Rhet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5CRNKL1-Q50*het unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5LCT-N1639Shomozygous0.612Unknown
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
0.5ABCA12-S777Thomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN5A-H558Rhet unknown0.246Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SEC14L3-D335Ehet unknown0.695Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SEC14L3-R214Hhet unknown0.217Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5SEC14L3-I103Thet unknown0.361Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5SEC14L3-L88Phet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.376 (possibly damaging)
0.5SEC14L3-R63Whet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
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
0.5IGFBP5-R138Whet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.937 (probably damaging)
0.5CAPN7-A128Thet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5TTN-I23649Thet unknown0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
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-S19140Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R9852Hhet unknown0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-G9378Rhet unknown0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R6646Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
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-S1295Lhomozygous0.950Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-K1201Ehomozygous0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ITGB2-Q354Hhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.543 (possibly damaging), Testable gene in GeneTests
0.5COL4A4-S1400Phet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A4-V1327Mhet unknown0.445Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A4-P1004Lhomozygous0.516Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL4A4-P482Shomozygous0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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-V1491Mhomozygous0.660Unknown
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-K1027Nhomozygous0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
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-A2872Thomozygous0.240Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5FLNB-D1157Nhet unknown0.303Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5FLNB-V1471Mhet unknown0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.02 (benign), Testable gene in GeneTests with associated GeneReview
0.5FLNB-K2006Rhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.5DFNB59-R265Chet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.962 (probably damaging), Testable gene in GeneTests
0.5DNAH1-V441Lhet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5DNAH1-R1285Whet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5DNAH1-N2384Shet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH1-R3744Chet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5DNAH1-H3832Rhomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GDF5-S276Ahomozygous0.359Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GFM1-V215Ihomozygous0.601Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.5GFM1-V664Ihet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.384 (possibly damaging), Testable gene in GeneTests
0.5TET3-P294Shet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.957 (probably damaging)
0.5TRIOBP-E1372Dhomozygous0.222Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests
0.5TRIOBP-W1377Rhomozygous0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.084 (benign), Testable gene in GeneTests
0.5TRIOBP-E2246Khet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.956 (probably damaging), Testable gene in GeneTests
0.5DYTN-Q474Khet unknown0.432Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DYTN-E203Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5DYTN-S143Ahet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.208 (possibly damaging)
0.5GGT1-G84Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ABCF3-P503Lhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.554 (possibly damaging)
0.5CASP10-Y446Chet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.39 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5CASP10-L522Ihomozygous0.439Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PCK1-V184Lhomozygous0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCK1-I267Vhet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.167 (benign), Testable gene in GeneTests
0.5PCK1-E276Khet unknown0.146Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CASP8-K14Rhomozygous0.671Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CASP8-D344Hhet unknown0.111Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL18A1-P286Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL18A1-A288Thet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.017 (benign), Testable gene in GeneTests
0.5COL18A1-T379Mhomozygous0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.969 (probably damaging), Testable gene in GeneTests
0.5CBR3-C4Yhomozygous0.368Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5HTR3E-E22Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5HTR3E-A86Thomozygous0.684Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CCDC39-T182Shet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5ALS2-V368Mhomozygous0.859Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5THNSL2-G41Ehomozygous0.874Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5THNSL2-T204Nhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CP-T551Ihet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.915 (probably damaging)
0.5CP-E544Dhomozygous0.851Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CPNE1-A402Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CPNE1-P347Rhet unknown0.101Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.384 (possibly damaging)
0.5CPNE1-Q211Rhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MERTK-R466Khomozygous0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MERTK-I518Vhomozygous0.635Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CASR-E1011Qhomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TEKT4-Q96Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TEKT4-N409Khet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.994 (probably damaging)
0.5TEKT4-R424Chet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.054 (benign)
0.5TEKT4-P426Thet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5TEKT4-T427Phet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.011 (benign)
0.5SALL4-L507Rhet unknown0.281Dominant
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.125 (benign), Testable gene in GeneTests with associated GeneReview
0.5EIF2AK3-A704Shomozygous0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EIF2AK3-Q166Rhomozygous0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5COL6A2-S399Nhomozygous0.730Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375PRODH-R521Qhet unknown0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375PRODH-W185Rhet unknown0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.375PRODH-H89Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.375SLC26A2-I333Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375SLC26A2-I574Thet unknown0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375SARDH-E732Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.375SARDH-M648Vhet unknown0.519Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.375SARDH-R614Hhet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.057 (benign), Testable gene in GeneTests
0.375ATXN3-G306QQQQQQRhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375ATXN3-G306QQQQQQRhet 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
0.25NPHS1-N1077Shet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests
0.25NPHS1-E117Khet unknown0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
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
0.25CLCN1-G118Whet unknown0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CPO-M85Ihet unknown0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.196 (benign), Testable gene in GeneTests
0.25CPO-S134Rhet unknown0.493Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CPS1-T344Ahet unknown0.597Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25CPS1-T1406Nhet unknown0.329Unknown
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
0.25SIGLEC1-A974Vhet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.011 (benign)
0.25SIGLEC1-H919Phet unknown0.666Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SIGLEC1-K239Rhet unknown0.616Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25SIGLEC1-V221Mhet unknown0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.03 (benign)
0.25SIGLEC1-E88*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25C10orf113-D100Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C10orf113-R62Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C10orf113-S22Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25PLG-D258Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PLG-D472Nhet unknown0.261Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CNDP1-L17Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CNDP1-I113Vhomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CD226-S307Ghet unknown0.451Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FECH-R102Qhet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TH-V108Mhet unknown0.290Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BAG3-P407Lhet unknown0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NDUFS7-P23Lhet unknown0.538Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25PLCE1-R1575Phet unknown0.476Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PLCE1-T1777Ihet unknown0.321Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PLCE1-H1927Rhet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25COL4A3-G43Rhet unknown0.353Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A3-L141Phet unknown0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A3-E162Ghet unknown0.774Unknown
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
0.25PTF1A-S263Phet unknown0.507Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests
0.25LAMB3-M852Lhet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.526 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25PANK2-G126Ahet unknown0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PDE6C-S270Thet unknown0.391Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TYSND1-Q528Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TYSND1-T65Ahomozygous0.322Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.123 (benign)
0.25TMEM67-I604Vhet unknown0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CHRNA2-T125Ahet unknown0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LEPR-Q223Rhet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.484 (possibly damaging), 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
0.25ADAMTS13-A900Vhet unknown0.113Unknown
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
0.25CPT2-V368Ihet unknown0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CTH-S403Ihet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GBP7-R181*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25GBP7-T14Ihet unknown0.705Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
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
0.25TPO-A257Shet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TPO-A373Shet unknown0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25TPO-S398Thet unknown0.785Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.988 (probably damaging), Testable gene in GeneTests
0.25TPO-T725Phet unknown0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25NR5A1-G146Ahet unknown0.246Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ABCA4-H423Rhet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25OTOF-R82Chet unknown0.365Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.25FAAH-P129Thet unknown0.256Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25HTR2C-C23Shet unknown0.233Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.25LHCGR-N312Shet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FSHR-S680Nhet unknown0.556Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FSHR-A307Thet unknown0.451Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PLOD1-A99Thet unknown0.282Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PLOD1-A120Shet unknown0.151Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.01 (benign), Testable gene in GeneTests with associated GeneReview
0.25ALPL-Y263Hhet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ALMS1-R392Chet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ALMS1-V671Ghet unknown0.881Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ALMS1-G1414Ahet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ALMS1-I1875Vhet unknown0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ALMS1-I2070Thet unknown0.137Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ALMS1-S2111Rhet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ALMS1-R2284Phet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ALMS1-S2574Nhet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ALMS1-D2672Hhet unknown0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ALMS1-R2826Shet unknown0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ALMS1-N2856Shet unknown0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GGCX-R325Qhet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25SLC3A1-M618Ihet unknown0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25ATRX-Q929Ehet unknown0.509Unknown
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
0.25NLRP7-G487Ehet unknown0.146Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25NLRP7-V319Ihet unknown0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25NGF-A35Vhet unknown0.370Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.123 (benign), Testable gene in GeneTests
0.25PRG4-R180Whet unknown0.299Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.25PRG4-K205Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
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
0.25HMCN1-I2418Thet unknown0.525Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests
0.25HMCN1-E2893Ghet unknown0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.91 (probably damaging), Testable gene in GeneTests
0.25HMCN1-Q4437Rhet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.25NCF2-K181Rhet unknown0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25LHX4-N328Shet unknown0.406Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CFH-H402Yhet unknown0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CFH-E936Dhet unknown0.139Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.504 (possibly damaging), Testable gene in GeneTests with associated GeneReview
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
0.25KISS1-*139Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KISS1-P81Rhet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RP1-N985Yhet unknown0.349Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.958 (probably damaging), 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
0.25GGH-A31Thet unknown0.210Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GGH-C6Rhet unknown0.228Unknown
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
0.25FMO3-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
0.25NBN-E185Qhet unknown0.285Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FPR1-E346Ahet unknown0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FPR1-N192Khet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FPR1-V101Lhet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FPR1-I11Thet unknown0.773Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FKTN-R203Qhet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.166 (benign), Testable gene in GeneTests with associated GeneReview
0.25ZNF765-S389Ghomozygous0.825Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ZNF765-P465Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25VANGL1-A116Thet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25IL6R-D358Ahet unknown0.316Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.911 (probably damaging)
0.25SCN1A-A1056Thet unknown0.724Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TMEM160-G120Shet unknown0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.866 (probably damaging)
0.25TG-S734Ahet unknown0.592Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TG-M1028Vhet unknown0.591Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25TG-D1312Ghet unknown0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TG-D1838Nhet unknown0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.061 (benign), Testable gene in GeneTests
0.25TG-M1974Thet unknown0.147Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TG-W2501Rhomozygous0.614Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.031 (benign), Testable gene in GeneTests
0.25TG-R2530Qhet unknown0.572Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25DOCK8-A22Vhet unknown0.317Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.009 (benign), Testable gene in GeneTests
0.25DOCK8-D63Nhet unknown0.128Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests
0.25DOCK8-P97Thet unknown0.465Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests
0.25FCRL5-H976Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25FCRL5-V466Ihomozygous0.700Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FCRL5-G418Dhomozygous0.826Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FCRL5-Y267Hhomozygous0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RNMT-Y251Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25RNMT-S254Ghet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SACS-V3369Ahet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.769 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25NIPBL-N674Shet unknown0.116Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.028 (benign), Testable gene in GeneTests with associated GeneReview
0.25MTHFD1-K134Rhomozygous0.831Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MTHFD1-R653Qhet unknown0.376Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.25ARSB-V358Mhet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.117 (benign), Testable gene in GeneTests
0.25VCAN-K1516Rhet unknown0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25VCAN-R1826Hhet unknown0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25VCAN-F2301Yhet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25VCAN-D2937Yhet unknown0.388Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview
0.25TSHR-E727Dhet unknown0.920Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CPOX-N272Hhet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.037 (benign), 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
0.25TLR3-L412Fhet unknown0.213Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.991 (probably damaging)
0.25TERT-A279Thet unknown0.020Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25TERT-G35Fhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MYH15-R1748Qhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.034 (benign)
0.25MYH15-T1125Ahet unknown0.242Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.007 (benign)
0.25MYH15-T949Ihet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.127 (benign)
0.25MYH15-H504Yhet unknown0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.997 (probably damaging)
0.25SERPINA1-V237Ahet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FAM81B-P275Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FAM81B-Q285Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25FAM81B-D287Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PAX9-A240Phet unknown0.311Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25XPC-Q939Khet unknown0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TMEM43-K168Nhet unknown0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.064 (benign), Testable gene in GeneTests with associated GeneReview
0.25TMEM43-M179Thet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ITGA2B-I874Shet unknown0.380Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYA4-G277Shet unknown0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25KRT14-A94Thet unknown0.440Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KRT14-C63Yhet unknown0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
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).
0.25IRS2-P10Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25COCH-T352Shet unknown0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25APC-V1822Dhet unknown0.826Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ERBB2-I655Vhet unknown0.168Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.18 (benign)
0.25ERBB2-P1170Ahet unknown0.512Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.983 (probably damaging)
0.25KRTAP3-2-R27Chet unknown0.132Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.25MST1-R434Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MST1-T294Shet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.17 (benign)
0.25MST1-T159Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MST1-P144Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MST1-V121Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25TTBK2-L8Phet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DRD3-G9Shet unknown0.533Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NQO1-P187Shet unknown0.197Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.215 (possibly damaging)
0.25DHODH-K7Qhet unknown0.542Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.25DHODH-G18Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PLD1-A622Shet unknown0.179Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FANCA-G809Dhet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FANCA-T266Ahet unknown0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25UGT2B7-Y268Hhet unknown0.207Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25UGT2B15-Y85Dhet unknown0.508Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CLCN2-T668Shet unknown0.594Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25NOD2-P268Shet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EIF2B5-I587Vhet unknown0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25THAP11-Q113Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25THAP11-S134Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TLR1-S602Ihet unknown0.485Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TLR1-N248Shet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25TLR1-R80Thet unknown0.065Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.25ADAMTSL3-H146Rhet unknown0.564Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.04 (benign)
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
0.25LOXL1-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)
0.25GATM-Q110Hhet unknown0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC28A2-P22Lhet unknown0.474Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC28A2-S75Rhet unknown0.497Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DUOX2-S1067Lhet unknown0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DUOX2-H678Rhet unknown0.182Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DUOX2-P138Lhet unknown0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FGB-R478Khet unknown0.155Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GUCY2D-A52Shet unknown0.210Recessive
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.026 (benign), Testable gene in GeneTests with associated GeneReview
0.25GUCY2D-L782Hhet unknown0.216Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25UMPS-G213Ahet unknown0.165Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AK298931-E88Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25AK298931-W38*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25AK298931-T4Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25BBS4-I354Thet unknown0.529Unknown
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
0.25BBS12-R386Qhet unknown0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.25BBS12-D467Nhet unknown0.171Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CHRNB1-E32Ghet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.288 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25NIPAL4-R213Ghet unknown0.449Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25FGF23-T239Mhet unknown0.105Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TRERF1-C834Shet unknown0.057Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.989 (probably damaging)
0.25TRERF1-S678Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
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
0.25ALG9-V289Ihet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.907 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25PRPH2-D338Ghet unknown0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PRPH2-R310Khet unknown0.931Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PRPH2-Q304Ehet unknown0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KIF6-W719Rhet unknown0.507Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.25KIF6-R512Hhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign)
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
0.25TULP1-T67Rhet unknown0.905Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ACOX1-I312Mhet unknown0.505Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MAPT-Y441Hhet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HYLS1-C31Rhet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests
0.25TCP11-V516Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TCP11-G266Ahet unknown0.201Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TCP11-D45Ahet unknown0.188Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PEX6-P939Qhet unknown0.430Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CARD14-E494Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CARD14-R547Shet unknown0.358Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DSC3-R102Khet unknown0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DSC3-S78Thet unknown0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.314 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25RAG1-H249Rhet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AIM1-A73Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25AIM1-E1196Ahet unknown0.930Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0.25ABCC8-A1369Shet unknown0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MADD-V751Mhet unknown0.226Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SERPING1-V480Mhet unknown0.220Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.25MYO7A-L16Shet unknown0.470Unknown
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
0.25IGHMBP2-L201Shet unknown0.777Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25IGHMBP2-T671Ahet unknown0.246Unknown
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)
0.25COL6A1-S890Lhet unknown0.159Unknown
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-P480Lhet unknown0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.977 (probably damaging)
0.25SNX19-G381Shet unknown0.161Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25SNX19-V361Lhet unknown0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KRT1-K633Rhet unknown0.220Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25KRT1-S557Ghet unknown0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25F13A1-V35Lhet unknown0.227Unknown
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
0.25LRP1-Q2900Phomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LRP1-D4193Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ITGB4-L1779Phet unknown0.604Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BRIP1-S919Phet unknown0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TBX4-A314Vhet unknown0.226Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.267 (possibly damaging), Testable gene in GeneTests
0.25FGFR4-P136Lhomozygous0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FGFR4-G388Rhet unknown0.241Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.481 (possibly damaging)
0.25FANCD2-P714Lhet unknown0.142Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RNF43-P686Rhet unknown0.126Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.777 (possibly damaging)
0.25RNF43-L418Mhet unknown0.371Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.06 (benign)
0.25RNF43-R343Hhet unknown0.116Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.25RNF43-I47Vhet unknown0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25GRM6-Q59Phet unknown0.616Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SUMF1-S63Nhet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
0.25SCO2-R20Phet unknown0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYH9-I1626Vhet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KRT5-G543Shet unknown0.152Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KRT5-S528Ghet unknown0.173Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLCO1B3-S112Ahet unknown0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLCO1B3-M233Ihet unknown0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.131 (benign)
0.25CDKN1B-V109Ghet unknown0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests
0.25MICA-L145Vhet unknown0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-G198Shet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-I236Thet unknown0.466Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-R274Qhet unknown0.478Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MICA-G318Shifthet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25TCF19-A147Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TCF19-M211Vhomozygous0.798Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLCO1B1-N130Dhet unknown0.528Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLCO1B1-V174Ahet unknown0.113Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25COG1-N392Shet unknown0.530Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KRT6C-R182Qhet unknown0.402Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.805 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25KRT83-H493Yhet unknown0.751Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TRIM15-S324Nhet unknown0.181Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0FLNA-Y1525*het unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Nonsense mutation, Testable gene in GeneTests with associated GeneReview
0MBL2-G54Dhet unknown0.104Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests
0RHAG-V270Ihet unknown0.038Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown

Input file format: CGIVAR

Genome build: b37

Genome coverage: 2,744,467,739 bases (96.9% of callable positions, 90.8% of total positions)

Coding region coverage: 32,173,197 bases (96.9% of all genes, 97.6% of genes with clinical testing available)

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

Gene search

"GENE" or "GENE A123C":

Log in