single nucleotide variant | NM_138694.4(PKHD1):c.8642+1G>A | PKHD1 | Pathogenic | 6 | 51637499 | 51637499 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_138694.4(PKHD1):c.645C>A (p.Cys215Ter) | PKHD1 | Likely pathogenic | 6 | 51935826 | 51935826 | G | T | criteria provided, single submitter | - |
single nucleotide variant | NM_138694.4(PKHD1):c.1774C>T (p.Arg592Ter) | PKHD1 | Pathogenic/Likely pathogenic | 6 | 51920447 | 51920447 | G | A | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_138694.4(PKHD1):c.5464del (p.Thr1822fs) | PKHD1 | Likely pathogenic | 6 | 51882344 | 51882344 | GT | G | criteria provided, single submitter | - |
single nucleotide variant | NM_138694.4(PKHD1):c.9998G>C (p.Arg3333Thr) | PKHD1 | Pathogenic/Likely pathogenic | 6 | 51611519 | 51611519 | C | G | criteria provided, multiple submitters, no conflicts | - |
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.10744G>T (p.Glu3582Ter) | PKHD1 | Likely pathogenic | 6 | 51524180 | 51524180 | C | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_138694.4(PKHD1):c.10765C>T (p.Gln3589Ter) | PKHD1 | Pathogenic | 6 | 51524159 | 51524159 | G | A | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_138694.4(PKHD1):c.10955del (p.Pro3652fs) | PKHD1 | Pathogenic | 6 | 51523969 | 51523969 | TG | 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 | - |