single nucleotide variant | NM_001009944.3(PKD1):c.6586C>T (p.Gln2196Ter) | PKD1 | Pathogenic | 16 | 2158582 | 2158582 | G | A | criteria provided, multiple submitters, no conflicts | - |
Insertion | NM_001009944.3(PKD1):c.3890_3891insCAC (p.Leu1297_Arg1298insThr) | PKD1 | Likely pathogenic | 16 | 2161277 | 2161278 | C | CGTG | criteria provided, single submitter | - |
single nucleotide variant | NM_001009944.3(PKD1):c.1198C>T (p.Arg400Ter) | PKD1 | Pathogenic | 16 | 2167795 | 2167795 | G | A | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_001009944.3(PKD1):c.1400_1410del (p.Trp467fs) | PKD1 | Pathogenic | 16 | 2167030 | 2167040 | AGAAGCCGATCC | A | criteria provided, single submitter | - |
Deletion | NM_001009944.3(PKD1):c.1772del (p.Thr591fs) | PKD1 | Pathogenic | 16 | 2166070 | 2166070 | CG | C | criteria provided, single submitter | - |
Deletion | NM_001009944.3(PKD1):c.3145_3156del (p.Val1049_Ala1052del) | PKD1 | Likely pathogenic | 16 | 2162794 | 2162805 | AGGCCACCTCCAC | A | criteria provided, single submitter | - |
Deletion | NM_001009944.3(PKD1):c.3932del (p.Ala1311fs) | PKD1 | Pathogenic | 16 | 2161236 | 2161236 | CG | C | criteria provided, single submitter | - |
single nucleotide variant | NM_001009944.3(PKD1):c.4177C>T (p.Gln1393Ter) | PKD1 | Pathogenic | 16 | 2160991 | 2160991 | G | A | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_001009944.3(PKD1):c.5552_5553del (p.His1851fs) | PKD1 | Pathogenic | 16 | 2159615 | 2159616 | CAT | C | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_001009944.3(PKD1):c.6736C>T (p.Gln2246Ter) | PKD1 | Pathogenic | 16 | 2158432 | 2158432 | G | A | criteria provided, multiple submitters, no conflicts | - |