single nucleotide variant | NM_003002.4(SDHD):c.106C>T (p.Gln36Ter) | SDHD | Pathogenic | 11 | 111958634 | 111958634 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA016759,OMIM:602690.0001 |
single nucleotide variant | NM_003002.4(SDHD):c.112C>T (p.Arg38Ter) | SDHD | Pathogenic | 11 | 111958640 | 111958640 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA016789,OMIM:602690.0002 |
single nucleotide variant | NM_003002.4(SDHD):c.52+2T>G | SDHD | Likely pathogenic | 11 | 111957685 | 111957685 | T | G | criteria provided, single submitter | ClinGen:CA017068,OMIM:602690.0010 |
single nucleotide variant | NM_003002.4(SDHD):c.242C>T (p.Pro81Leu) | SDHD | Pathogenic/Likely pathogenic | 11 | 111959663 | 111959663 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA016688,UniProtKB:O14521#VAR_010038,OMIM:602690.0003 |
single nucleotide variant | NM_003002.4(SDHD):c.274G>T (p.Asp92Tyr) | SDHD | Pathogenic/Likely pathogenic | 11 | 111959695 | 111959695 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA016702,UniProtKB:O14521#VAR_010039,OMIM:602690.0004 |
single nucleotide variant | NM_003002.4(SDHD):c.305A>T (p.His102Leu) | SDHD | Pathogenic | 11 | 111959726 | 111959726 | A | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA016665,UniProtKB:O14521#VAR_010040,OMIM:602690.0005 |
single nucleotide variant | NM_003002.4(SDHD):c.341A>G (p.Tyr114Cys) | SDHD | Pathogenic | 11 | 111965555 | 111965555 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA016797,UniProtKB:O14521#VAR_017872,OMIM:602690.0007 |
single nucleotide variant | NM_003002.4(SDHD):c.95C>A (p.Ser32Ter) | SDHD | Pathogenic | 11 | 111958623 | 111958623 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA016746,OMIM:602690.0008 |
Deletion | NM_003002.4(SDHD):c.443del (p.Gly148fs) | SDHD | Likely pathogenic | 11 | 111965655 | 111965655 | TG | T | criteria provided, single submitter | ClinGen:CA017041,OMIM:602690.0009 |
single nucleotide variant | NM_003002.4(SDHD):c.64C>T (p.Arg22Ter) | SDHD | Pathogenic | 11 | 111958592 | 111958592 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA016739,OMIM:602690.0012 |