single nucleotide variant | NM_003001.5(SDHC):c.3G>A (p.Met1Ile) | SDHC | Pathogenic | 1 | 161284198 | 161284198 | G | A | criteria provided, single submitter | ClinGen:CA016312,OMIM:602413.0001 |
single nucleotide variant | NM_003001.5(SDHC):c.405+1G>T | SDHC | Pathogenic | 1 | 161326631 | 161326631 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA011403,OMIM:602413.0002 |
single nucleotide variant | NM_003001.5(SDHC):c.405+1G>A | SDHC | Pathogenic | 1 | 161326631 | 161326631 | G | A | criteria provided, single submitter | ClinGen:CA011395,OMIM:602413.0004 |
single nucleotide variant | NM_003000.3(SDHB):c.268C>T (p.Arg90Ter) | SDHB | Pathogenic | 1 | 17359573 | 17359573 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA015643,OMIM:185470.0001 |
single nucleotide variant | NM_003000.3(SDHB):c.590C>G (p.Pro197Arg) | SDHB | Pathogenic/Likely pathogenic | 1 | 17350520 | 17350520 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA016001,UniProtKB:P21912#VAR_017868,OMIM:185470.0002 |
single nucleotide variant | NM_003000.3(SDHB):c.725G>A (p.Arg242His) | SDHB | Pathogenic/Likely pathogenic | 1 | 17349143 | 17349143 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA016163,UniProtKB:P21912#VAR_017869,OMIM:185470.0004 |
single nucleotide variant | NM_003000.3(SDHB):c.79C>T (p.Arg27Ter) | SDHB | Pathogenic | 1 | 17371377 | 17371377 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA016187,OMIM:185470.0006 |
single nucleotide variant | NM_003000.3(SDHB):c.136C>G (p.Arg46Gly) | SDHB | Pathogenic | 1 | 17371320 | 17371320 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA015497,UniProtKB:P21912#VAR_035064,OMIM:185470.0008 |
single nucleotide variant | NM_003000.3(SDHB):c.395A>C (p.His132Pro) | SDHB | Pathogenic/Likely pathogenic | 1 | 17355123 | 17355123 | T | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA015817,UniProtKB:P21912#VAR_037621,OMIM:185470.0010 |
single nucleotide variant | NM_003000.3(SDHB):c.418G>T (p.Val140Phe) | SDHB | Pathogenic/Likely pathogenic | 1 | 17355100 | 17355100 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA015853,OMIM:185470.0016 |