single nucleotide variant | NM_001009944.3(PKD1):c.4551C>A (p.Tyr1517Ter) | PKD1 | Pathogenic/Likely pathogenic | 16 | 2160617 | 2160617 | G | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_001009944.3(PKD1):c.4447C>T (p.Gln1483Ter) | PKD1 | Pathogenic/Likely pathogenic | 16 | 2160721 | 2160721 | G | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_001009944.3(PKD1):c.412C>T (p.Arg138Ter) | PKD1 | Pathogenic/Likely pathogenic | 16 | 2168794 | 2168794 | G | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_001009944.3(PKD1):c.1202-9G>A | PKD1 | Pathogenic/Likely pathogenic | 16 | 2167682 | 2167682 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_138694.4(PKHD1):c.9619G>A (p.Ala3207Thr) | PKHD1 | Pathogenic/Likely pathogenic | 6 | 51612795 | 51612795 | C | T | criteria provided, multiple submitters, no conflicts | - |
Indel | NM_138694.4(PKHD1):c.4492_4494delinsAG (p.Ser1498_Leu1499insTer) | PKHD1 | Pathogenic/Likely pathogenic | 6 | 51890114 | 51890116 | AGA | CT | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_138694.4(PKHD1):c.11398+2T>C | PKHD1 | Pathogenic/Likely pathogenic | 6 | 51512827 | 51512827 | A | G | criteria provided, multiple submitters, no conflicts | - |