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.2197G>T (p.Gly733Ter) | PKD2 | Likely pathogenic | 4 | 88986604 | 88986604 | G | T | criteria provided, single submitter | - |
Duplication | NM_000297.4(PKD2):c.1668dup (p.Gln557fs) | PKD2 | Pathogenic/Likely pathogenic | 4 | 88973261 | 88973262 | T | TA | criteria provided, multiple submitters, no conflicts | - |
Indel | NM_000297.4(PKD2):c.1193delinsAA (p.Thr398fs) | PKD2 | Likely pathogenic | 4 | 88964483 | 88964483 | C | AA | criteria provided, single submitter | - |
single nucleotide variant | NM_000297.4(PKD2):c.1081C>T (p.Arg361Ter) | PKD2 | Pathogenic/Likely pathogenic | 4 | 88959640 | 88959640 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000297.4(PKD2):c.992G>C (p.Cys331Ser) | PKD2 | Likely pathogenic | 4 | 88959551 | 88959551 | G | C | criteria provided, single submitter | - |
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.181C>T (p.Gln61Ter) | PKD2 | Likely pathogenic | 4 | 88929066 | 88929066 | C | T | criteria provided, single submitter | - |
Duplication | NM_000297.4(PKD2):c.1047dup (p.Val350fs) | PKD2 | Pathogenic | 4 | 88959605 | 88959606 | C | CT | criteria provided, multiple submitters, no conflicts | - |
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 | - |