single nucleotide variant | NM_004168.4(SDHA):c.508C>T (p.Gln170Ter) | SDHA | Pathogenic | 5 | 226049 | 226049 | C | T | criteria provided, single submitter | - |
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 |
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.615T>A (p.Tyr205Ter) | SDHA | Pathogenic | 5 | 226156 | 226156 | T | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10578627 |
Indel | NM_004168.4(SDHA):c.619_620delinsC (p.Ser208fs) | SDHA | Pathogenic | 5 | 226160 | 226161 | AG | C | criteria provided, single submitter | - |
single nucleotide variant | NM_004168.4(SDHA):c.622-1G>A | SDHA | Likely pathogenic | 5 | 228299 | 228299 | G | A | criteria provided, single submitter | ClinGen:CA359010778 |
single nucleotide variant | NM_004168.4(SDHA):c.628C>T (p.Arg210Ter) | SDHA | Pathogenic | 5 | 228306 | 228306 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA3172926 |
Deletion | NM_004168.4(SDHA):c.644_645del (p.Tyr215fs) | SDHA | Pathogenic | 5 | 228321 | 228322 | CTA | C | criteria provided, single submitter | - |
Deletion | NM_004168.4(SDHA):c.667del (p.Asp223fs) | SDHA | Pathogenic/Likely pathogenic | 5 | 228344 | 228344 | TG | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA166673 |