single nucleotide variant | NM_003000.3(SDHB):c.758G>A (p.Cys253Tyr) | SDHB | Likely pathogenic | 1 | 17349110 | 17349110 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA016171 |
single nucleotide variant | NM_003001.5(SDHC):c.78-1G>A | SDHC | Likely pathogenic | 1 | 161298185 | 161298185 | G | A | criteria provided, single submitter | ClinGen:CA011508 |
Deletion | NM_003002.3(SDHD):c.*(?_286)_*(387_?)del | SDHD | Likely pathogenic | 11 | 111965980 | 111966081 | na | na | criteria provided, single submitter | - |
Deletion | NM_000551.3(VHL):c.-75_-55del | VHL | Likely pathogenic | 3 | 10183457 | 10183477 | AGCGCGCACGCAGCTCCGCCCC | A | criteria provided, single submitter | ClinGen:CA020542 |
Deletion | NM_017849.4(TMEM127):c.308del (p.Gly103fs) | TMEM127 | Likely pathogenic | 2 | 96920672 | 96920672 | GC | G | criteria provided, single submitter | ClinGen:CA273242 |
single nucleotide variant | NM_003000.3(SDHB):c.203G>A (p.Cys68Tyr) | SDHB | Likely pathogenic | 1 | 17359638 | 17359638 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA015598 |
single nucleotide variant | NM_003000.3(SDHB):c.386C>G (p.Pro129Arg) | SDHB | Likely pathogenic | 1 | 17355132 | 17355132 | G | C | criteria provided, single submitter | ClinGen:CA015807 |
single nucleotide variant | NM_000551.4(VHL):c.371C>T (p.Thr124Ile) | VHL | Likely pathogenic | 3 | 10188228 | 10188228 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA020308 |
single nucleotide variant | NM_020975.6(RET):c.1880-2A>G | RET | Likely pathogenic | 10 | 43609926 | 43609926 | A | G | criteria provided, single submitter | ClinGen:CA008131 |
single nucleotide variant | NM_020975.6(RET):c.2711C>T (p.Ser904Phe) | RET | Likely pathogenic | 10 | 43615632 | 43615632 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA009027 |