single nucleotide variant | NM_001009944.3(PKD1):c.7587G>C (p.Lys2529Asn) | PKD1 | Likely pathogenic | 16 | 2156208 | 2156208 | C | G | criteria provided, single submitter | - |
Deletion | NM_001009944.3(PKD1):c.5411del (p.Gly1804fs) | PKD1 | Likely pathogenic | 16 | 2159757 | 2159757 | GC | G | criteria provided, single submitter | - |
single nucleotide variant | NM_001009944.3(PKD1):c.5279G>A (p.Trp1760Ter) | PKD1 | Likely pathogenic | 16 | 2159889 | 2159889 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_001009944.3(PKD1):c.4957C>T (p.Gln1653Ter) | PKD1 | Pathogenic/Likely pathogenic | 16 | 2160211 | 2160211 | G | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_001009944.3(PKD1):c.4616G>A (p.Trp1539Ter) | PKD1 | Pathogenic | 16 | 2160552 | 2160552 | C | T | criteria provided, single submitter | - |
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 | - |
Deletion | NM_001009944.3(PKD1):c.4070del (p.Leu1357fs) | PKD1 | Pathogenic | 16 | 2161098 | 2161098 | CA | C | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_001009944.3(PKD1):c.2618_2621del (p.Val873fs) | PKD1 | Likely pathogenic | 16 | 2164403 | 2164406 | GCAGA | G | criteria provided, single submitter | - |
single nucleotide variant | NM_001009944.3(PKD1):c.2012C>G (p.Ser671Ter) | PKD1 | Likely pathogenic | 16 | 2165464 | 2165464 | G | C | criteria provided, single submitter | - |