single nucleotide variant | NM_004168.4(SDHA):c.508C>T (p.Gln170Ter) | SDHA | Pathogenic | 5 | 226049 | 226049 | C | T | criteria provided, single submitter | - |
Deletion | NM_004168.4(SDHA):c.457-2_457del | SDHA | Pathogenic | 5 | 225995 | 225997 | ACAG | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10582418 |
Deletion | NM_004168.4(SDHA):c.378del (p.Thr126_Val127insTer) | SDHA | Pathogenic | 5 | 225598 | 225598 | AC | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA658657419 |
Duplication | NM_004168.4(SDHA):c.253_256dup (p.Asn86delinsIleTer) | SDHA | Pathogenic | 5 | 224576 | 224577 | G | GTTTA | criteria provided, single submitter | - |
Deletion | NM_004168.4(SDHA):c.255del (p.Phe85fs) | SDHA | Likely pathogenic | 5 | 224577 | 224577 | GT | G | criteria provided, single submitter | ClinGen:CA3172756 |
single nucleotide variant | NM_004168.4(SDHA):c.223C>T (p.Arg75Ter) | SDHA | Pathogenic/Likely pathogenic | 5 | 224547 | 224547 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA276119,OMIM:600857.0010 |
Duplication | NM_004168.4(SDHA):c.210dup (p.Gly71fs) | SDHA | Likely pathogenic | 5 | 224533 | 224534 | G | GA | criteria provided, single submitter | - |
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 |