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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 68058527 68058527 C > T EFNB1 NM_004429.4:c.196C>T
NP_004420.1:p.Arg66Ter
1/8745 6.0e-05 1 Pathogenic
View X 69176937 69176937 C > T EDA EDA EDA NM_001005609.1:c.457C>T
NM_001005612.2:c.457C>T
NM_001399.4:c.457C>T
NP_001005609.1:p.Arg153Cys
NP_001005612.2:p.Arg153Cys
NP_001390.1:p.Arg153Cys
1/8745 0.00011 1 Pathogenic
View X 70330754 70330755 - > CAGA IL2RG NM_000206.2:c.258_261dupTCTG
NP_000197.1:p.His88SerfsTer10
2/8745 0.00017 1 ClinVar pathogenic variant Pathogenic
View X 73745669 73745669 C > T SLC16A2 NM_006517.4:c.1111C>T
NP_006508.2:p.Arg371Cys
1/8745 0.00011 1 Pathogenic
View X 77276527 77276527 G > A ATP7A NM_000052.5:c.2867G>A
NP_000043.3:p.Trp956Ter
1/8954 0.00011 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
1/8745 0.00011 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
14/8745 0.0012 1 Pathogenic
View X 100667593 100667593 G > A HNRNPH2 RPL36A-HNRNPH2 RPL36A-HNRNPH2 HNRNPH2 NM_001032393.2:c.617G>A
NM_001199973.1:c.*613G>A
NM_001199974.1:c.*613G>A
NM_019597.4:c.617G>A
NP_001027565.1:p.Arg206Gln
NP_062543.1:p.Arg206Gln
1/6916 7.0e-05 1 Pathogenic
View X 107834462 107834462 G > A COL4A5 COL4A5 NM_000495.4:c.1339+1G>A
NM_033380.2:c.1339+1G>A
1/8745 0.00011 1 ClinVar pathogenic variant 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
1/8745 6.0e-05 1 ClinVar pathogenic variant 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
1/8745 0.00011 1 ClinVar pathogenic variant Pathogenic
View X 110928268 110928268 A > G ALG13 ALG13 ALG13 ALG13 ALG13 ALG13 ALG13 ALG13 ALG13 ALG13 ALG13 ALG13 ALG13 NR_033125.1:n.317A>G
NM_001039210.3:c.261A>G
NM_001257241.1:c.86A>G
NM_001257230.1:c.8A>G
NM_001257240.1:c.8A>G
NM_001257231.1:c.86A>G
NM_001257234.1:c.8A>G
NM_001257235.1:c.8A>G
NM_001257237.1:c.8A>G
NM_001257239.1:c.8A>G
NM_001168385.1:c.320A>G
NM_018466.4:c.320A>G
NM_001099922.2:c.320A>G
NP_001034299.3:p.Gln87=
NP_001244170.1:p.Asn29Ser
NP_001244159.1:p.Asn3Ser
NP_001244169.1:p.Asn3Ser
NP_001244160.1:p.Asn29Ser
NP_001244163.1:p.Asn3Ser
NP_001244164.1:p.Asn3Ser
NP_001244166.1:p.Asn3Ser
NP_001244168.1:p.Asn3Ser
NP_001161857.1:p.Asn107Ser
NP_060936.1:p.Asn107Ser
NP_001093392.1:p.Asn107Ser
1/6955 7.0e-05 1 Pathogenic
View X 128696614 128696614 C > - OCRL OCRL NM_000276.3:c.1095del
NM_001587.3:c.1095del
NP_000267.2:p.His365GlnfsTer33
NP_001578.2:p.His365GlnfsTer33
2/8745 0.00017 1 ClinVar pathogenic variant Pathogenic
View X 149809777 149809779 TAA > - MTM1 NM_000252.2:c.567_569del
NP_000243.1:p.Asn189del
1/8745 0.00011 1 Pathogenic
View X 153135391 153135391 T > C L1CAM L1CAM L1CAM L1CAM NM_001143963.2:c.977-2A>G
NM_001278116.1:c.992-2A>G
NM_000425.4:c.992-2A>G
NM_024003.3:c.992-2A>G
1/8745 0.00011 1 ClinVar pathogenic variant Pathogenic
View X 153171352 153171352 T > C AVPR2 AVPR2 AVPR2 NM_000054.4:c.392T>C
NM_001146151.1:c.392T>C
NR_027419.1:n.560-121T>C
NP_000045.1:p.Leu131Pro
NP_001139623.1:p.Leu131Pro
2/6955 0.00022 1 Pathogenic
View X 153230153 153230153 G > A HCFC1 NM_005334.2:c.218C>T
NP_005325.2:p.Ala73Val
2/6955 0.00022 1 Pathogenic
View X 153296363 153296363 G > A MECP2 MECP2 NM_001110792.1:c.952C>T
NM_004992.3:c.916C>T
NP_001104262.1:p.Arg318Cys
NP_004983.1:p.Arg306Cys
2/8745 0.00011 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
1/8745 6.0e-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
1/8745 6.0e-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
5/8745 0.0004 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?
1/8745 6.0e-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
2/9143 0.00022 1 Pathogenic
View X 153761807 153761807 T > A G6PD G6PD NM_000402.3:c.938A>T
NM_001042351.1:c.848A>T
NP_000393.4:p.Asp313Val
NP_001035810.1:p.Asp283Val
1/9143 0.00011 1 Pathogenic
View X 153763492 153763492 T > C G6PD G6PD NM_000402.3:c.466A>G
NM_001042351.1:c.376A>G
NP_000393.4:p.Asn156Asp
NP_001035810.1:p.Asn126Asp
351/9143 0.02762 1 Pathogenic
View X 153764217 153764217 C > T G6PD G6PD NM_000402.3:c.292G>A
NM_001042351.1:c.202G>A
NP_000393.4:p.Val98Met
NP_001035810.1:p.Val68Met
148/9143 0.01116 1 Pathogenic
View X 153764371 153764371 A > G G6PD G6PD NM_000402.3:c.233T>C
NM_001042351.1:c.143T>C
NP_000393.4:p.Ile78Thr
NP_001035810.1:p.Ile48Thr
3/9143 0.00016 1 Pathogenic
View X 154004468 154004468 C > G DKC1 ENST00000369550.5:c.1345C>G
ENSP00000358563.5:p.Arg449Gly
1/8745 0.00011 1 ClinVar pathogenic variant Pathogenic
Displaying 400 through 428 of 428 variants