Duplication | NM_004168.4(SDHA):c.171dup (p.Val58fs) | SDHA | Pathogenic/Likely pathogenic | 5 | 224494 | 224495 | T | TA | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_004168.4(SDHA):c.151-1G>C | SDHA | Likely pathogenic | 5 | 224474 | 224474 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA359008365 |
single nucleotide variant | NM_004168.4(SDHA):c.91C>T (p.Arg31Ter) | SDHA | Pathogenic/Likely pathogenic | 5 | 223624 | 223624 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA168793,OMIM:600857.0008 |
Deletion | NM_004168.4(SDHA):c.63+2del | SDHA | Likely pathogenic | 5 | 218535 | 218535 | GT | G | criteria provided, multiple submitters, no conflicts | - |
Duplication | NM_004168.4(SDHA):c.46_52dup (p.Leu18fs) | SDHA | Pathogenic/Likely pathogenic | 5 | 218510 | 218511 | C | CGGCGCCT | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_004168.4(SDHA):c.28del (p.Leu10fs) | SDHA | Pathogenic | 5 | 218498 | 218498 | GC | G | criteria provided, single submitter | - |
single nucleotide variant | NM_004168.4(SDHA):c.5C>A (p.Ser2Ter) | SDHA | Pathogenic | 5 | 218475 | 218475 | C | A | criteria provided, single submitter | - |
single nucleotide variant | NM_004168.4(SDHA):c.2T>A (p.Met1Lys) | SDHA | Pathogenic | 5 | 218472 | 218472 | T | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_004168.4(SDHA):c.2T>G (p.Met1Arg) | SDHA | Pathogenic/Likely pathogenic | 5 | 218472 | 218472 | T | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA16618195 |
single nucleotide variant | NM_004168.4(SDHA):c.2T>C (p.Met1Thr) | SDHA | Pathogenic/Likely pathogenic | 5 | 218472 | 218472 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA16611812 |