single nucleotide variant | NM_138694.4(PKHD1):c.10350C>A (p.Cys3450Ter) | PKHD1 | Pathogenic/Likely pathogenic | 6 | 51524574 | 51524574 | G | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_138694.4(PKHD1):c.2507T>C (p.Val836Ala) | PKHD1 | Pathogenic/Likely pathogenic | 6 | 51910887 | 51910887 | A | G | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_001009944.3(PKD1):c.6916-9G>A | PKD1 | Pathogenic/Likely pathogenic | 16 | 2158042 | 2158042 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_001009944.3(PKD1):c.7108T>C (p.Cys2370Arg) | PKD1 | Pathogenic/Likely pathogenic | 16 | 2156907 | 2156907 | A | G | criteria provided, multiple submitters, no conflicts | - |
Indel | NM_138694.4(PKHD1):c.6866-2_6866-1delinsGA | PKHD1 | Pathogenic/Likely pathogenic | 6 | 51768526 | 51768527 | CT | TC | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_138694.4(PKHD1):c.11747C>G (p.Ser3916Ter) | PKHD1 | Pathogenic/Likely pathogenic | 6 | 51491833 | 51491833 | G | C | criteria provided, multiple submitters, no conflicts | - |
Duplication | NM_138694.4(PKHD1):c.4118dup (p.Met1373fs) | PKHD1 | Pathogenic/Likely pathogenic | 6 | 51890489 | 51890490 | C | CA | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_138694.4(PKHD1):c.11074C>T (p.Arg3692Ter) | PKHD1 | Pathogenic/Likely pathogenic | 6 | 51523850 | 51523850 | G | A | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_001009944.3(PKD1):c.8017-2_8017-1del | PKD1 | Pathogenic/Likely pathogenic | 16 | 2154644 | 2154645 | CCT | C | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_001009944.3(PKD1):c.10167+25_10167+43del | PKD1 | Pathogenic/Likely pathogenic | 16 | 2147826 | 2147844 | GCAGGACCCCCAGCCCAGCC | G | criteria provided, multiple submitters, no conflicts | - |