single nucleotide variant | NM_138694.4(PKHD1):c.8107+1G>C | PKHD1 | Likely pathogenic | 6 | 51712572 | 51712572 | C | G | criteria provided, single submitter | - |
single nucleotide variant | NM_138694.4(PKHD1):c.8555-2A>G | PKHD1 | Pathogenic/Likely pathogenic | 6 | 51637589 | 51637589 | T | C | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_138694.4(PKHD1):c.5448T>A (p.Tyr1816Ter) | PKHD1 | Pathogenic/Likely pathogenic | 6 | 51882360 | 51882360 | A | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_138694.4(PKHD1):c.6491-1G>A | PKHD1 | Likely pathogenic | 6 | 51774273 | 51774273 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_138694.4(PKHD1):c.6809-2A>G | PKHD1 | Likely pathogenic | 6 | 51768842 | 51768842 | T | C | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_138694.4(PKHD1):c.1A>G (p.Met1Val) | PKHD1 | Pathogenic/Likely pathogenic | 6 | 51949731 | 51949731 | T | C | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_138694.4(PKHD1):c.6866-16_6866del | PKHD1 | Likely pathogenic | 6 | 51768525 | 51768541 | GTCTAATGTTTCAACAAA | G | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_138694.4(PKHD1):c.11G>A (p.Trp4Ter) | PKHD1 | Pathogenic/Likely pathogenic | 6 | 51949721 | 51949721 | C | T | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_138694.4(PKHD1):c.10036_10045del (p.Cys3346fs) | PKHD1 | Pathogenic/Likely pathogenic | 6 | 51609294 | 51609303 | GGACTTGCACA | G | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_138694.4(PKHD1):c.390+1del | PKHD1 | Pathogenic/Likely pathogenic | 6 | 51944697 | 51944697 | AC | A | criteria provided, multiple submitters, no conflicts | - |