single nucleotide variant | NM_020975.6(RET):c.1879+1G>A | RET | Pathogenic/Likely pathogenic | 10 | 43609124 | 43609124 | G | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_002382.5(MAX):c.289C>T (p.Gln97Ter) | MAX | Pathogenic/Likely pathogenic | 14 | 65544637 | 65544637 | G | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_003002.4(SDHD):c.305A>G (p.His102Arg) | SDHD | Pathogenic/Likely pathogenic | 11 | 111959726 | 111959726 | A | G | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_004168.4(SDHA):c.1579del (p.Arg527fs) | SDHA | Pathogenic/Likely pathogenic | 5 | 251133 | 251133 | TC | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000551.4(VHL):c.344A>G (p.His115Arg) | VHL | Pathogenic/Likely pathogenic | 3 | 10188201 | 10188201 | A | G | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000551.4(VHL):c.336C>G (p.Tyr112Ter) | VHL | Pathogenic/Likely pathogenic | 3 | 10183867 | 10183867 | C | G | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000551.4(VHL):c.563T>C (p.Leu188Pro) | VHL | Pathogenic/Likely pathogenic | 3 | 10191570 | 10191570 | T | C | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000551.4(VHL):c.509T>A (p.Val170Asp) | VHL | Pathogenic/Likely pathogenic | 3 | 10191516 | 10191516 | T | A | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_000551.4(VHL):c.462del (p.Val155fs) | VHL | Pathogenic/Likely pathogenic | 3 | 10188319 | 10188319 | CA | C | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_000551.4(VHL):c.433_439del (p.Gln145fs) | VHL | Pathogenic/Likely pathogenic | 3 | 10188289 | 10188295 | GACAGCCT | G | criteria provided, multiple submitters, no conflicts | - |