Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_004085.3(TIMM8A):c.*502_*504dupTGA | 1678 | TIMM8A | Benign | 4024308 | RCV000020580; | N | MedGen:C0796074,OMIM:304700,ORPHA:52368 | X | 100600983 | 100600985 | NM_004085.3:c.*502_*504dupTGA | | NC_000023.10:g.100600983_100600985dupTCA | - | C0796074 304700 Mohr-Tranebjaerg syndrome | | |
NM_004085.3(TIMM8A):c.238C>T (p.Arg80Ter) | 1678 | TIMM8A | Pathogenic | 1054894 | RCV000012076; | N | MedGen:C0796074,OMIM:304700,ORPHA:52368 | X | 100601543 | 100601543 | NM_004085.3:c.238C>T | NP_004076.1:p.Arg80Ter | NC_000023.10:g.100601543G>A | OMIM Allelic Variant:300356.0007 | C0796074 304700 Mohr-Tranebjaerg syndrome | | |
NM_004085.3(TIMM8A):c.198C>G (p.Cys66Trp) | 1678 | TIMM8A | Pathogenic | 80356560 | RCV000012073; | N | MedGen:C0796074,OMIM:304700,ORPHA:52368 | X | 100601583 | 100601583 | NM_004085.3:c.198C>G | NP_004076.1:p.Cys66Trp | NC_000023.10:g.100601583G>C | OMIM Allelic Variant:300356.0004 | C0796074 304700 Mohr-Tranebjaerg syndrome | | |
NM_004085.3(TIMM8A):c.148_157delAAGCCTGGGC (p.Lys50Glnfs) | 1678 | TIMM8A | Pathogenic | 869320733 | RCV000012071; | N | MedGen:C0796074,OMIM:304700,ORPHA:52368 | X | 100601624 | 100601633 | NM_004085.3:c.148_157delAAGCCTGGGC | NP_004076.1:p.Lys50Glnfs | NC_000023.10:g.100601624_100601633delGCCCAGGCTT | OMIM Allelic Variant:300356.0002 | C0796074 304700 Mohr-Tranebjaerg syndrome | | |
NM_004085.3(TIMM8A):c.133-23A>C | 1678 | TIMM8A | Pathogenic | 869320666 | RCV000012077; | N | MedGen:C0796074,OMIM:304700,ORPHA:52368 | X | 100601671 | 100601671 | NM_004085.3:c.133-23A>C | | NC_000023.10:g.100601671T>G | OMIM Allelic Variant:300356.0008 | C0796074 304700 Mohr-Tranebjaerg syndrome | | |
NM_004085.3(TIMM8A):c.127delT (p.Cys43Valfs) | 1678 | TIMM8A | Pathogenic | 869320667 | RCV000012078; | N | MedGen:C0796074,OMIM:304700,ORPHA:52368 | X | 100603526 | 100603526 | NM_004085.3:c.127delT | NP_004076.1:p.Cys43Valfs | NC_000023.10:g.100603526delA | OMIM Allelic Variant:300356.0009 | C0796074 304700 Mohr-Tranebjaerg syndrome | | |
NM_004085.3(TIMM8A):c.116delT (p.Met39Argfs) | 1678 | TIMM8A | Pathogenic | 869320664 | RCV000012070; | N | MedGen:C0796074,OMIM:304700,ORPHA:52368 | X | 100603537 | 100603537 | NM_004085.3:c.116delT | NP_004076.1:p.Met39Argfs | NC_000023.10:g.100603537delA | OMIM Allelic Variant:300356.0001 | C0796074 304700 Mohr-Tranebjaerg syndrome | | |
NM_004085.3(TIMM8A):c.112C>T (p.Gln38Ter) | 1678 | TIMM8A | Pathogenic | 80356559 | RCV000020579; | N | MedGen:C0796074,OMIM:304700,ORPHA:52368 | X | 100603541 | 100603541 | NM_004085.3:c.112C>T | NP_004076.1:p.Gln38Ter | NC_000023.10:g.100603541G>A | - | C0796074 304700 Mohr-Tranebjaerg syndrome | | |
NM_004085.3(TIMM8A):c.73delG (p.Val25Terfs) | 1678 | TIMM8A | Pathogenic | 869320665 | RCV000012074; | N | MedGen:C0796074,OMIM:304700,ORPHA:52368 | X | 100603580 | 100603580 | NM_004085.3:c.73delG | NP_004076.1:p.Val25Terfs | NC_000023.10:g.100603580delC | OMIM Allelic Variant:300356.0005 | C0796074 304700 Mohr-Tranebjaerg syndrome | | |
NM_004085.3(TIMM8A):c.70G>T (p.Glu24Ter) | 1678 | TIMM8A | Pathogenic | 111033631 | RCV000012072; | N | MedGen:C0796074,OMIM:304700,ORPHA:52368 | X | 100603583 | 100603583 | NM_004085.3:c.70G>T | NP_004076.1:p.Glu24Ter | NC_000023.10:g.100603583C>A | OMIM Allelic Variant:300356.0003 | C0796074 304700 Mohr-Tranebjaerg syndrome | | |