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Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
View 8 143956440 143956440 C > T CYP11B1 CYP11B1 NM_001026213.1:c.1200+210G>A
NM_000497.3:c.1331G>A
NP_000488.3:p.Gly444Asp
1/8954 6.0e-05 1 Pathogenic
View 8 143993994 143993994 G > T CYP11B2 NM_000498.3:c.1350C>A
NP_000489.3:p.Cys450Ter
2/7166 0.00021 1 ClinVar pathogenic variant Pathogenic
View 8 145584087 145584087 T > C SLC52A2 SLC52A2 SLC52A2 SLC52A2 NM_001253816.1:c.935T>C
NM_001253815.1:c.935T>C
NR_045600.1:n.1427T>C
NM_024531.4:c.935T>C
NP_001240745.1:p.Leu312Pro
NP_001240744.1:p.Leu312Pro
NP_078807.1:p.Leu312Pro
6/6955 0.00043 1 Pathogenic
View 9 32974493 32974493 C > T APTX APTX APTX APTX APTX APTX APTX APTX APTX APTX APTX APTX NM_001195249.1:c.837G>A
NM_175069.2:c.879G>A
NM_001195248.1:c.879G>A
NR_036576.1:n.911G>A
NM_001195254.1:c.675G>A
NR_036579.1:n.1080G>A
NM_001195252.1:c.663G>A
NM_001195251.1:c.837G>A
NR_036577.1:n.801G>A
NM_001195250.1:c.717G>A
NM_175073.2:c.837G>A
NR_036578.1:n.933G>A
NP_001182178.1:p.Trp279Ter
NP_778239.1:p.Trp293Ter
NP_001182177.1:p.Trp293Ter
NP_001182183.1:p.Trp225Ter
NP_001182181.1:p.Trp221Ter
NP_001182180.1:p.Trp279Ter
NP_001182179.1:p.Trp239Ter
NP_778243.1:p.Trp279Ter
9/8745 0.00069 1 Pathogenic
View 9 34647855 34647855 C > T GALT GALT NM_001258332.1:c.77C>T
NM_000155.3:c.404C>T
NP_001245261.1:p.Ser26Leu
NP_000146.2:p.Ser135Leu
9/8745 0.00051 1 Pathogenic
View 9 34648160 34648160 C > T GALT GALT NM_001258332.1:c.229C>T
NM_000155.3:c.556C>T
NP_001245261.1:p.His77Tyr
NP_000146.2:p.His186Tyr
1/8745 6.0e-05 1 Pathogenic
View 9 34648167 34648167 A > G GALT GALT NM_001258332.1:c.236A>G
NM_000155.3:c.563A>G
NP_001245261.1:p.Gln79Arg
NP_000146.2:p.Gln188Arg
59/8745 0.00343 1 Pathogenic
View 9 34648350 34648350 T > C GALT GALT NM_001258332.1:c.257T>C
NM_000155.3:c.584T>C
NP_001245261.1:p.Leu86Pro
NP_000146.2:p.Leu195Pro
3/8745 0.00017 1 Pathogenic
View 9 34648392 34648392 A > G GALT GALT NM_001258332.1:c.299A>G
NM_000155.3:c.626A>G
NP_001245261.1:p.Tyr100Cys
NP_000146.2:p.Tyr209Cys
5/8745 0.00029 1 Pathogenic
View 9 34649029 34649029 G > T GALT GALT NM_001258332.1:c.528G>T
NM_000155.3:c.855G>T
NP_001245261.1:p.Lys176Asn
NP_000146.2:p.Lys285Asn
7/8745 0.0004 1 Pathogenic
View 9 34649442 34649442 A > G GALT GALT NM_001258332.1:c.613A>G
NM_000155.3:c.940A>G
NP_001245261.1:p.Asn205Asp
NP_000146.2:p.Asn314Asp
1403/8745 0.08308 1 ClinVar pathogenic variant Pathogenic
View 9 34649532 34649532 C > A GALT GALT NM_001258332.1:c.703C>A
NM_000155.3:c.1030C>A
NP_001245261.1:p.Gln235Lys
NP_000146.2:p.Gln344Lys
1/8745 6.0e-05 1 Pathogenic
View 9 35076027 35076027 T > C FANCG NM_004629.1:c.1077-2A>G
4/6955 0.00029 1 Pathogenic
View 9 37783990 37783990 T > G EXOSC3 EXOSC3 NM_001002269.2:c.395A>C
NM_016042.3:c.395A>C
NP_001002269.1:p.Asp132Ala
NP_057126.2:p.Asp132Ala
8/6955 0.00065 1 Pathogenic
View 9 97888864 97888864 C > G FANCC FANCC FANCC NM_001243744.1:c.844-1G>C
NM_001243743.1:c.844-1G>C
NM_000136.2:c.844-1G>C
1/8745 6.0e-05 1 Pathogenic
View 9 97934315 97934315 T > A FANCC FANCC FANCC NM_001243744.1:c.456+4A>T
NM_001243743.1:c.456+4A>T
NM_000136.2:c.456+4A>T
2/8745 0.00011 1 Pathogenic
View 9 98011507 98011507 C > - FANCC FANCC FANCC NM_001243744.1:c.67del
NM_001243743.1:c.67del
NM_000136.2:c.67del
NP_001230673.1:p.Asp23IlefsTer23
NP_001230672.1:p.Asp23IlefsTer23
NP_000127.2:p.Asp23IlefsTer23
5/8745 0.00029 1 Pathogenic
View 9 98238429 98238429 C > - PTCH1 PTCH1 PTCH1 PTCH1 PTCH1 PTCH1 PTCH1 NM_001083605.1:c.1162del
NM_001083606.1:c.1162del
NM_001083607.1:c.1162del
NM_000264.3:c.1615del
NM_001083602.1:c.1417del
NM_001083603.1:c.1612del
NM_001083604.1:c.1162del
NP_001077074.1:p.Glu388SerfsTer3
NP_001077075.1:p.Glu388SerfsTer3
NP_001077076.1:p.Glu388SerfsTer3
NP_000255.2:p.Glu539SerfsTer3
NP_001077071.1:p.Glu473SerfsTer3
NP_001077072.1:p.Glu538SerfsTer3
NP_001077073.1:p.Glu388SerfsTer3
1/6955 7.0e-05 1 Pathogenic
View 9 99017146 99017146 T > A HSD17B3 NM_000197.1:c.277+4A>T
19/8745 0.00114 1 Pathogenic
View 9 104184181 104184181 G > C ALDOB NM_000035.3:c.1005C>G
NP_000026.2:p.Asn335Lys
5/8745 0.00029 1 Pathogenic
View 9 104189856 104189856 C > G ALDOB NM_000035.3:c.448G>C
NP_000026.2:p.Ala150Pro
76/8745 0.00446 1 Pathogenic
View 9 108363630 108363630 G > T FKTN FKTN FKTN NM_006731.2:c.369+1G>T
NM_001079802.1:c.369+1G>T
NM_001198963.1:c.369+1G>T
1/8745 6.0e-05 1 ClinVar pathogenic variant Pathogenic
View 9 108366764 108366765 - > T FKTN FKTN FKTN NM_006731.2:c.642dupT
NM_001079802.1:c.642dupT
NM_001198963.1:c.642dupT
NP_006722.2:p.Asp215Ter
NP_001073270.1:p.Asp215Ter
NP_001185892.1:p.Asp215Ter
1/8745 6.0e-05 1 Pathogenic
View 9 129377807 129377811 CTTCC > - LMX1B LMX1B LMX1B NM_001174146.1:c.285_289del
NM_001174147.1:c.285_289del
NM_002316.3:c.285_289del
NP_001167617.1:p.Tyr95Ter
NP_001167618.1:p.Tyr95Ter
NP_002307.2:p.Tyr95Ter
1/6955 7.0e-05 1 ClinVar pathogenic variant Pathogenic
View 9 133370370 133370370 C > T ASS1 ASS1 NM_054012.3:c.1087C>T
NM_000050.4:c.1087C>T
NP_446464.1:p.Arg363Trp
NP_000041.2:p.Arg363Trp
7/8745 0.0004 1 Pathogenic
View 9 134388630 134388630 C > T POMT1 POMT1 POMT1 POMT1 POMT1 ENST00000402686.3:c.1087C>T
ENST00000341012.7:c.925C>T
ENST00000372228.3:c.1153C>T
ENST00000404875.2:c.736C>T
ENST00000423007.1:c.1087C>T
ENSP00000385797.3:p.Gln363Ter
ENSP00000343034.7:p.Gln309Ter
ENSP00000361302.3:p.Gln385Ter
ENSP00000384531.2:p.Gln246Ter
ENSP00000404119.1:p.Gln363Ter
3/8745 0.00017 1 Pathogenic
View 9 138650308 138650308 C > G KCNT1 KCNT1 NM_020822.2:c.808C>G
NM_001272003.1:c.664C>G
NP_065873.2:p.Gln270Glu
NP_001258932.1:p.Gln222Glu
1/6955 7.0e-05 1 Pathogenic
View 9 139569261 139569261 T > C AGPAT2 AGPAT2 NM_006412.3:c.589-2A>G
NM_001012727.1:c.493-2A>G
4/6955 0.00036 1 Pathogenic
View 9 140127380 140127380 G > A SLC34A3 SLC34A3 ENST00000538474.1:c.448+1G>A
ENST00000361134.2:c.448+1G>A
6/6955 0.00043 1 Pathogenic
View MT 1555 1555 A > G MT-RNR1 ENST00000389680.2:n.908A>G
13/8706 0.00144 1 ClinVar pathogenic variant Pathogenic
View MT 3243 3243 A > G MT-TL1 ENST00000386347.1:n.14A>G
5/8706 0.00029 1 ClinVar pathogenic variant Pathogenic
View MT 3287 3287 C > A MT-TL1 ENST00000386347.1:n.58C>A
0/0 0 1 mitochondrial_gene_context Pathogenic
View MT 3394 3394 T > C MT-ND1 ENST00000361390.2:c.88T>C
ENSP00000354687.2:p.Tyr30His
87/8707 0.00959 1 ClinVar pathogenic variant Pathogenic
View MT 8344 8344 A > G MT-TK ENST00000387421.1:n.50A>G
4/8706 0.00023 1 ClinVar pathogenic variant Pathogenic
View MT 8993 8993 T > C MT-ATP6 ENST00000361899.2:c.467T>C
ENSP00000354632.2:p.Leu156Pro
0/0 0 1 ClinVar pathogenic variant Pathogenic
View MT 8993 8993 T > G MT-ATP6 ENST00000361899.2:c.467T>G
ENSP00000354632.2:p.Leu156Arg
5/8706 0.00057 1 ClinVar pathogenic variant Pathogenic
View MT 10158 10158 T > C MT-ND3 ENST00000361227.2:c.100T>C
ENSP00000355206.2:p.Ser34Pro
2/8706 0.00023 1 ClinVar pathogenic variant Pathogenic
View MT 10191 10191 T > C MT-ND3 ENST00000361227.2:c.133T>C
ENSP00000355206.2:p.Ser45Pro
2/8706 0.00011 1 ClinVar pathogenic variant Pathogenic
View MT 11778 11778 G > A MT-ND4 ENST00000361381.2:c.1019G>A
ENSP00000354961.2:p.Arg340His
3/8706 0.00029 1 ClinVar pathogenic variant Pathogenic
View MT 12261 12261 T > C MT-TS2 ENST00000387449.1:n.55T>C
0/0 0 1 mitochondrial_gene_context Pathogenic
View MT 13513 13513 G > A MT-ND5 ENST00000361567.2:c.1177G>A
ENSP00000354813.2:p.Asp393Asn
1/8706 6.0e-05 1 ClinVar pathogenic variant Pathogenic
View MT 14674 14674 T > C MT-TE ENST00000387459.1:n.69A>G
5/8706 0.00057 1 ClinVar pathogenic variant Pathogenic
View MT 15242 15242 G > A MT-CYB ENST00000361789.2:c.496G>A
ENSP00000354554.2:p.Gly166Ter
0/0 0 1 ClinVar pathogenic variant Pathogenic
View X 9733856 9733856 A > G GPR143 NM_000273.2:c.2T>C
NP_000264.2:p.Met1?
1/6955 0.00014 1 ClinVar pathogenic variant Pathogenic
View X 10181808 10181808 C > T CLCN4 CLCN4 NM_001830.3:c.1664C>T
NM_001256944.1:c.1382C>T
NP_001821.2:p.Ala555Val
NP_001243873.1:p.Ala461Val
1/6955 7.0e-05 1 Pathogenic
View X 15349984 15349985 - > C PIGA PIGA PIGA PIGA NM_002641.3:c.68dupG
NR_033835.1:n.184dupG
NR_033836.1:n.173+11dupG
NM_020473.3:c.13+3638dupG
NP_002632.1:p.Ser24LysfsTer6
2/6955 0.00022 1 Pathogenic
View X 18606106 18606106 C > T CDKL5 CDKL5 NM_001037343.1:c.587C>T
NM_003159.2:c.587C>T
NP_001032420.1:p.Ser196Leu
NP_003150.1:p.Ser196Leu
1/7607 7.0e-05 1 Pathogenic
View X 41075215 41075215 C > T USP9X USP9X NM_001039590.2:c.5395C>T
NM_001039591.2:c.5395C>T
NP_001034679.2:p.Arg1799Ter
NP_001034680.2:p.Arg1799Ter
1/6955 7.0e-05 1 ClinVar pathogenic variant Pathogenic
View X 66905887 66905887 T > G AR AR NM_000044.3:c.1804T>G
NM_001011645.2:c.208T>G
NP_000035.2:p.Cys602Gly
NP_001011645.1:p.Cys70Gly
1/8745 0.00011 1 ClinVar pathogenic variant Pathogenic
View X 68049711 68049712 - > CCTGGAGCCCGTAT EFNB1 NM_004429.4:c.101_114dupCCGTATCCTGGAGC
NP_004420.1:p.Ser39ProfsTer12
1/8745 6.0e-05 1 ClinVar pathogenic variant Pathogenic
Displaying 350 through 400 of 428 variants