single nucleotide variant | NM_000297.4(PKD2):c.973C>T (p.Arg325Ter) | PKD2 | Pathogenic | 4 | 88959532 | 88959532 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16611587 |
single nucleotide variant | NM_000297.4(PKD2):c.964C>T (p.Arg322Trp) | PKD2 | Pathogenic/Likely pathogenic | 4 | 88959523 | 88959523 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA357632796 |
single nucleotide variant | NM_000297.4(PKD2):c.958C>T (p.Arg320Ter) | PKD2 | Pathogenic | 4 | 88959517 | 88959517 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000297.4(PKD2):c.916C>T (p.Arg306Ter) | PKD2 | Pathogenic | 4 | 88959475 | 88959475 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16609391 |
single nucleotide variant | NM_000297.4(PKD2):c.717C>A (p.Tyr239Ter) | PKD2 | Pathogenic/Likely pathogenic | 4 | 88957379 | 88957379 | C | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000297.4(PKD2):c.709+1G>A | PKD2 | Pathogenic/Likely pathogenic | 4 | 88940724 | 88940724 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA220617 |
Deletion | NM_000297.4(PKD2):c.670del (p.Leu224fs) | PKD2 | Pathogenic | 4 | 88940684 | 88940684 | AC | A | criteria provided, single submitter | ClinGen:CA645372397 |
single nucleotide variant | NM_000297.4(PKD2):c.637C>T (p.Arg213Ter) | PKD2 | Pathogenic | 4 | 88940651 | 88940651 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA10575461 |
single nucleotide variant | NM_000297.4(PKD2):c.603G>A (p.Trp201Ter) | PKD2 | Pathogenic | 4 | 88940617 | 88940617 | G | A | criteria provided, single submitter | ClinGen:CA357628188 |
single nucleotide variant | NM_000297.4(PKD2):c.596-1G>T | PKD2 | Pathogenic | 4 | 88940609 | 88940609 | G | T | criteria provided, single submitter | - |