single nucleotide variant | NM_000297.4(PKD2):c.2240+1G>A | PKD2 | Pathogenic | 4 | 88986648 | 88986648 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA357624779 |
single nucleotide variant | NM_000297.4(PKD2):c.2241-2A>G | PKD2 | Pathogenic/Likely pathogenic | 4 | 88986912 | 88986912 | A | G | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_000297.4(PKD2):c.2284_2287del (p.Tyr762fs) | PKD2 | Pathogenic | 4 | 88986956 | 88986959 | AGTAC | A | criteria provided, single submitter | ClinGen:CA658796448 |
single nucleotide variant | NM_000297.4(PKD2):c.2286C>A (p.Tyr762Ter) | PKD2 | Pathogenic | 4 | 88986959 | 88986959 | C | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000297.4(PKD2):c.2305G>T (p.Glu769Ter) | PKD2 | Likely pathogenic | 4 | 88986978 | 88986978 | G | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000297.4(PKD2):c.2407C>T (p.Arg803Ter) | PKD2 | Pathogenic | 4 | 88989098 | 88989098 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000297.4(PKD2):c.2523-1G>A | PKD2 | Pathogenic | 4 | 88995963 | 88995963 | G | A | criteria provided, single submitter | ClinGen:CA357627494 |
Deletion | NM_000297.4(PKD2):c.2524del (p.Leu842fs) | PKD2 | Pathogenic | 4 | 88995964 | 88995964 | GC | G | criteria provided, single submitter | ClinGen:CA645509148 |
Deletion | NM_000297.4(PKD2):c.2527del (p.Leu842_Val843insTer) | PKD2 | Pathogenic | 4 | 88995967 | 88995967 | TG | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000297.4(PKD2):c.2533C>T (p.Arg845Ter) | PKD2 | Pathogenic | 4 | 88995974 | 88995974 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA3004284 |