single nucleotide variant | NM_138694.4(PKHD1):c.2279+5G>A | PKHD1 | Likely pathogenic | 6 | 51914950 | 51914950 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_138694.4(PKHD1):c.7109+3A>C | PKHD1 | Likely pathogenic | 6 | 51751928 | 51751928 | T | G | criteria provided, single submitter | - |
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.3539G>A (p.Gly1180Glu) | PKHD1 | Likely pathogenic | 6 | 51892975 | 51892975 | C | T | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_138694.4(PKHD1):c.3958_3959del (p.Gly1320fs) | PKHD1 | Pathogenic | 6 | 51890649 | 51890650 | TCC | T | criteria provided, single submitter | - |
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 | - |
Deletion | NM_138694.4(PKHD1):c.10145del (p.Phe3382fs) | PKHD1 | Likely pathogenic | 6 | 51609194 | 51609194 | GA | G | criteria provided, single submitter | - |
single nucleotide variant | NM_138694.4(PKHD1):c.10658T>A (p.Ile3553Asn) | PKHD1 | Likely pathogenic | 6 | 51524266 | 51524266 | A | T | criteria provided, single submitter | - |
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 | - |