Deletion | NM_004168.4(SDHA):c.558_567del (p.His187fs) | SDHA | Pathogenic | 5 | 226097 | 226106 | GGCCCATCGGT | G | criteria provided, single submitter | ClinGen:CA658657420 |
single nucleotide variant | NM_004168.4(SDHA):c.562C>T (p.Arg188Trp) | SDHA | Likely pathogenic | 5 | 226103 | 226103 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA3172879 |
single nucleotide variant | NM_004168.4(SDHA):c.553C>T (p.Gln185Ter) | SDHA | Pathogenic | 5 | 226094 | 226094 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA3172876 |
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 | - |