single nucleotide variant | NM_001009944.3(PKD1):c.9398-1G>A | PKD1 | Likely pathogenic | 16 | 2150568 | 2150568 | C | T | criteria provided, single submitter | ClinGen:CA394356711 |
single nucleotide variant | NM_001009944.3(PKD1):c.215+1G>C | PKD1 | Pathogenic | 16 | 2185475 | 2185475 | C | G | criteria provided, single submitter | ClinGen:CA394282115 |
Duplication | NM_001009944.2(PKD1):c.8017-?_8161+?dup | PKD1 | Likely pathogenic | 16 | 2154499 | 2154643 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_001009944.3(PKD1):c.12712C>T (p.Gln4238Ter) | PKD1 | Pathogenic | 16 | 2139928 | 2139928 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA394320489 |
single nucleotide variant | NM_001009944.3(PKD1):c.12010C>T (p.Gln4004Ter) | PKD1 | Pathogenic | 16 | 2140803 | 2140803 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA7828876 |
single nucleotide variant | NM_001009944.3(PKD1):c.11461C>T (p.Gln3821Ter) | PKD1 | Pathogenic | 16 | 2141858 | 2141858 | G | A | criteria provided, single submitter | ClinGen:CA394333122 |
Deletion | NM_001009944.3(PKD1):c.8545del (p.Ala2849fs) | PKD1 | Likely pathogenic | 16 | 2153513 | 2153513 | GC | G | criteria provided, single submitter | ClinGen:CA645373033 |
single nucleotide variant | NM_001009944.3(PKD1):c.8095C>T (p.Gln2699Ter) | PKD1 | Pathogenic | 16 | 2154565 | 2154565 | G | A | criteria provided, single submitter | ClinGen:CA394365419 |
Deletion | NM_001009944.3(PKD1):c.7174del (p.Arg2392fs) | PKD1 | Pathogenic | 16 | 2156841 | 2156841 | CG | C | criteria provided, single submitter | ClinGen:CA645373036 |
single nucleotide variant | NM_001009944.3(PKD1):c.7137C>G (p.Tyr2379Ter) | PKD1 | Pathogenic | 16 | 2156878 | 2156878 | G | C | criteria provided, single submitter | ClinGen:CA394371899 |