single nucleotide variant | NM_138694.4(PKHD1):c.2140+1G>T | PKHD1 | Likely pathogenic | 6 | 51917873 | 51917873 | C | A | criteria provided, single submitter | - |
single nucleotide variant | NM_138694.4(PKHD1):c.3097+2T>C | PKHD1 | Likely pathogenic | 6 | 51907655 | 51907655 | A | G | criteria provided, single submitter | - |
single nucleotide variant | NM_138694.4(PKHD1):c.2141-2A>C | PKHD1 | Likely pathogenic | 6 | 51915095 | 51915095 | T | G | criteria provided, single submitter | - |
Deletion | NM_138694.4(PKHD1):c.2346_2352del (p.Arg783fs) | PKHD1 | Likely pathogenic | 6 | 51913345 | 51913351 | TTGTCCGC | T | criteria provided, single submitter | - |
Deletion | NM_138694.4(PKHD1):c.6300_6316del (p.Gln2100fs) | PKHD1 | Likely pathogenic | 6 | 51777180 | 51777196 | AGATAGAGGTCTGTATCC | A | criteria provided, single submitter | - |
single nucleotide variant | NM_138694.4(PKHD1):c.2854G>C (p.Gly952Arg) | PKHD1 | Likely pathogenic | 6 | 51907900 | 51907900 | C | G | criteria provided, single submitter | - |
single nucleotide variant | NM_138694.4(PKHD1):c.3228+1G>T | PKHD1 | Pathogenic/Likely pathogenic | 6 | 51900388 | 51900388 | C | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_138694.4(PKHD1):c.7350+653A>G | PKHD1 | Pathogenic/Likely pathogenic | 6 | 51747238 | 51747238 | T | C | criteria provided, multiple submitters, no conflicts | OMIM:606702.0009 |
Deletion | NM_138694.4(PKHD1):c.3943del (p.Ser1314_Leu1315insTer) | PKHD1 | Likely pathogenic | 6 | 51890665 | 51890665 | AG | A | criteria provided, single submitter | - |
single nucleotide variant | NM_138694.4(PKHD1):c.4417C>T (p.Gln1473Ter) | PKHD1 | Pathogenic | 6 | 51890191 | 51890191 | G | A | criteria provided, multiple submitters, no conflicts | - |