single nucleotide variant | NM_001009944.3(PKD1):c.9298C>T (p.Gln3100Ter) | PKD1 | Pathogenic/Likely pathogenic | 16 | 2152161 | 2152161 | G | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_138694.4(PKHD1):c.3467C>T (p.Ser1156Leu) | PKHD1 | Pathogenic/Likely pathogenic | 6 | 51893047 | 51893047 | G | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_138694.4(PKHD1):c.4330C>T (p.Gln1444Ter) | PKHD1 | Pathogenic/Likely pathogenic | 6 | 51890278 | 51890278 | G | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_138694.4(PKHD1):c.8518C>T (p.Arg2840Cys) | PKHD1 | Pathogenic/Likely pathogenic | 6 | 51640642 | 51640642 | G | A | criteria provided, multiple submitters, no conflicts | - |
Duplication | NM_000297.4(PKD2):c.1668dup (p.Gln557fs) | PKD2 | Pathogenic/Likely pathogenic | 4 | 88973261 | 88973262 | T | TA | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000297.4(PKD2):c.1081C>T (p.Arg361Ter) | PKD2 | Pathogenic/Likely pathogenic | 4 | 88959640 | 88959640 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000297.4(PKD2):c.717C>A (p.Tyr239Ter) | PKD2 | Pathogenic/Likely pathogenic | 4 | 88957379 | 88957379 | C | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_138694.4(PKHD1):c.390+1G>T | PKHD1 | Pathogenic/Likely pathogenic | 6 | 51944697 | 51944697 | C | A | criteria provided, multiple submitters, no conflicts | - |
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 | - |
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 | - |