single nucleotide variant | NM_001009944.3(PKD1):c.7108T>C (p.Cys2370Arg) | PKD1 | Pathogenic/Likely pathogenic | 16 | 2156907 | 2156907 | A | G | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_001009944.3(PKD1):c.7109G>C (p.Cys2370Ser) | PKD1 | Likely pathogenic | 16 | 2156906 | 2156906 | C | G | criteria provided, single submitter | - |
single nucleotide variant | NM_001009944.3(PKD1):c.7268C>T (p.Ser2423Phe) | PKD1 | Likely pathogenic | 16 | 2156620 | 2156620 | G | A | criteria provided, single submitter | - |
single nucleotide variant | NM_001009944.3(PKD1):c.7666C>T (p.Gln2556Ter) | PKD1 | Pathogenic | 16 | 2156129 | 2156129 | G | A | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_001009944.3(PKD1):c.7751_7754del (p.Leu2584fs) | PKD1 | Pathogenic | 16 | 2155975 | 2155978 | TGTGA | T | criteria provided, single submitter | - |
single nucleotide variant | NM_001009944.3(PKD1):c.7987C>T (p.Gln2663Ter) | PKD1 | Pathogenic | 16 | 2155352 | 2155352 | G | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_001009944.3(PKD1):c.8560C>T (p.Gln2854Ter) | PKD1 | Pathogenic | 16 | 2153498 | 2153498 | G | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_001009944.3(PKD1):c.8590G>T (p.Glu2864Ter) | PKD1 | Pathogenic | 16 | 2153468 | 2153468 | C | A | criteria provided, single submitter | - |
single nucleotide variant | NM_001009944.3(PKD1):c.10540C>T (p.Gln3514Ter) | PKD1 | Pathogenic | 16 | 2144171 | 2144171 | G | A | criteria provided, single submitter | - |
Deletion | NM_001009944.3(PKD1):c.10552_10585del (p.Glu3518fs) | PKD1 | Pathogenic | 16 | 2144126 | 2144159 | TCCCAGTTCAGGCCTGGGCTGGGTGGCCCCAGCTC | T | criteria provided, single submitter | - |