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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 |