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Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
View X 9733856 9733856 A > G GPR143 NM_000273.2:c.2T>C
NP_000264.2:p.Met1?
1/5119 0.0002 2 loss_of_initiation Pathogenic
View X 10181808 10181808 C > T CLCN4 CLCN4 NM_001256944.1:c.1382C>T
NM_001830.3:c.1664C>T
NP_001243873.1:p.Ala461Val
NP_001821.2:p.Ala555Val
1/5119 0.0001 1 non_synonymous Pathogenic
View X 15349984 15349985 - > C PIGA PIGA PIGA PIGA NM_002641.3:c.68dupG
NM_020473.3:c.13+3638dupG
NR_033836.1:n.173+11dupG
NR_033835.1:n.184dupG
NP_002632.1:p.Ser24LysfsTer6
2/5119 0.00029 1 Pathogenic
View X 18606106 18606106 C > T CDKL5 CDKL5 NM_003159.2:c.587C>T
NM_001037343.1:c.587C>T
NP_003150.1:p.Ser196Leu
NP_001032420.1:p.Ser196Leu
1/5771 9.0e-05 1 Pathogenic
View X 41075215 41075215 C > T USP9X USP9X NM_001039591.2:c.5395C>T
NM_001039590.2:c.5395C>T
NP_001034680.2:p.Arg1799Ter
NP_001034679.2:p.Arg1799Ter
1/5119 0.0001 1 premature_stop Pathogenic
View X 66905887 66905887 T > G AR AR NM_001011645.2:c.208T>G
NM_000044.3:c.1804T>G
NP_001011645.1:p.Cys70Gly
NP_000035.2:p.Cys602Gly
1/6913 0.00014 1 non_synonymous Pathogenic
View X 68049711 68049712 - > CCTGGAGCCCGTAT EFNB1 NM_004429.4:c.101_114dupCCGTATCCTGGAGC
NP_004420.1:p.Ser39ProfsTer12
1/6913 7.0e-05 2 frameshift Pathogenic
View X 68058527 68058527 C > T EFNB1 NM_004429.4:c.196C>T
NP_004420.1:p.Arg66Ter
1/6913 7.0e-05 1 Pathogenic
View X 69176937 69176937 C > T EDA EDA EDA NM_001399.4:c.457C>T
NM_001005609.1:c.457C>T
NM_001005612.2:c.457C>T
NP_001390.1:p.Arg153Cys
NP_001005609.1:p.Arg153Cys
NP_001005612.2:p.Arg153Cys
1/6913 0.00014 1 Pathogenic
View X 70330754 70330755 - > CAGA IL2RG NM_000206.2:c.258_261dupTCTG
NP_000197.1:p.His88SerfsTer10
2/6913 0.00022 2 frameshift Pathogenic
View X 73745669 73745669 C > T SLC16A2 NM_006517.4:c.1111C>T
NP_006508.2:p.Arg371Cys
1/6913 0.00014 1 Pathogenic
View X 77276527 77276527 G > A ATP7A NM_000052.5:c.2867G>A
NP_000043.3:p.Trp956Ter
1/7003 0.00014 1 Pathogenic
View X 100653861 100653861 C > T GLA RPL36A-HNRNPH2 RPL36A-HNRNPH2 NM_000169.2:c.713G>A
NM_001199973.1:c.408+3416C>T
NM_001199974.1:c.285+7051C>T
NP_000160.1:p.Ser238Asn
1/6913 0.00014 1 Pathogenic
View X 100656740 100656740 C > T GLA RPL36A-HNRNPH2 RPL36A-HNRNPH2 NM_000169.2:c.427G>A
NM_001199973.1:c.408+6295C>T
NM_001199974.1:c.285+9930C>T
NP_000160.1:p.Ala143Thr
11/6913 0.00116 1 Pathogenic
View X 107834462 107834462 G > A COL4A5 COL4A5 NM_033380.2:c.1339+1G>A
NM_000495.4:c.1339+1G>A
1/6913 0.00014 2 donor_site Pathogenic
View X 107844705 107844712 AGGTCTTC > - COL4A5 COL4A5 NM_000495.4:c.2031_2038del
NM_033380.2:c.2031_2038del
NP_000486.1:p.Gly678ArgfsTer2
NP_203699.1:p.Gly678ArgfsTer2
1/6913 7.0e-05 2 frameshift Pathogenic
View X 107935998 107935998 C > - COL4A5 COL4A5 NM_000495.4:c.4531del
NM_033380.2:c.4549del
NP_000486.1:p.Arg1511ValfsTer37
NP_203699.1:p.Arg1517ValfsTer37
1/6913 0.00014 2 frameshift Pathogenic
View X 128696614 128696614 C > - OCRL OCRL NM_001587.3:c.1095del
NM_000276.3:c.1095del
NP_001578.2:p.His365GlnfsTer33
NP_000267.2:p.His365GlnfsTer33
2/6913 0.00022 2 frameshift Pathogenic
View X 149809777 149809779 TAA > - MTM1 NM_000252.2:c.567_569del
NP_000243.1:p.Asn189del
1/6913 0.00014 1 Pathogenic
View X 153135391 153135391 T > C L1CAM L1CAM L1CAM L1CAM NM_001278116.1:c.992-2A>G
NM_024003.3:c.992-2A>G
NM_001143963.2:c.977-2A>G
NM_000425.4:c.992-2A>G
1/6913 0.00014 1 acceptor_site Pathogenic
View X 153171352 153171352 T > C AVPR2 AVPR2 AVPR2 NR_027419.1:n.560-121T>C
NM_000054.4:c.392T>C
NM_001146151.1:c.392T>C
NP_000045.1:p.Leu131Pro
NP_001139623.1:p.Leu131Pro
2/5119 0.00029 1 Pathogenic
View X 153230153 153230153 G > A HCFC1 NM_005334.2:c.218C>T
NP_005325.2:p.Ala73Val
2/5119 0.00029 1 Pathogenic
View X 153296525 153296526 - > GG MECP2 MECP2 NM_001110792.1:c.788_789dupCC
NM_004992.3:c.752_753dupCC
NP_001104262.1:p.Gly264ProfsTer38
NP_004983.1:p.Gly252ProfsTer38
1/6913 7.0e-05 1 Pathogenic
View X 153296806 153296806 G > A MECP2 MECP2 NM_001110792.1:c.509C>T
NM_004992.3:c.473C>T
NP_001104262.1:p.Thr170Met
NP_004983.1:p.Thr158Met
1/6913 7.0e-05 1 Pathogenic
View X 153296860 153296860 G > A MECP2 MECP2 NM_001110792.1:c.455C>T
NM_004992.3:c.419C>T
NP_001104262.1:p.Ala152Val
NP_004983.1:p.Ala140Val
5/6913 0.00051 1 Pathogenic
View X 153363122 153363122 T > A MECP2 MECP2 NM_001110792.1:c.1A>T
NM_004992.3:c.-160A>T
NP_001104262.1:p.Met1?
1/6913 7.0e-05 1 Pathogenic
View X 153760605 153760605 G > A G6PD G6PD NM_000402.3:c.1450C>T
NM_001042351.1:c.1360C>T
NP_000393.4:p.Arg484Cys
NP_001035810.1:p.Arg454Cys
2/7192 0.00028 1 Pathogenic
View X 153761807 153761807 T > A G6PD G6PD NM_001042351.1:c.848A>T
NM_000402.3:c.938A>T
NP_001035810.1:p.Asp283Val
NP_000393.4:p.Asp313Val
1/7192 0.00014 1 Pathogenic
View X 153763492 153763492 T > C G6PD G6PD NM_001042351.1:c.376A>G
NM_000402.3:c.466A>G
NP_001035810.1:p.Asn126Asp
NP_000393.4:p.Asn156Asp
266/7192 0.02697 1 Pathogenic
View X 153764217 153764217 C > T G6PD G6PD NM_001042351.1:c.202G>A
NM_000402.3:c.292G>A
NP_001035810.1:p.Val68Met
NP_000393.4:p.Val98Met
117/7192 0.01133 1 Pathogenic
View X 153764371 153764371 A > G G6PD G6PD NM_001042351.1:c.143T>C
NM_000402.3:c.233T>C
NP_001035810.1:p.Ile48Thr
NP_000393.4:p.Ile78Thr
3/7192 0.00021 1 Pathogenic
View X 154004468 154004468 C > G DKC1 DKC1 NM_001142463.1:c.1330C>G
NM_001363.3:c.1345C>G
NP_001135935.1:p.Arg444Gly
NP_001354.1:p.Arg449Gly
1/6913 0.00014 1 non_synonymous Pathogenic
Displaying 300 through 332 of 332 variants