single nucleotide variant | NM_000297.4(PKD2):c.1774C>T (p.Arg592Ter) | PKD2 | Pathogenic | 4 | 88977295 | 88977295 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA357622723 |
single nucleotide variant | NM_000297.4(PKD2):c.1898+5G>A | PKD2 | Pathogenic/Likely pathogenic | 4 | 88977424 | 88977424 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA658657394 |
single nucleotide variant | NM_000297.4(PKD2):c.1906C>A (p.Gln636Lys) | PKD2 | Likely pathogenic | 4 | 88979142 | 88979142 | C | A | criteria provided, single submitter | ClinGen:CA220615 |
single nucleotide variant | NM_000297.4(PKD2):c.2019+1G>A | PKD2 | Pathogenic/Likely pathogenic | 4 | 88979256 | 88979256 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA357623301 |
Deletion | NC_000004.12:g.(?_88007714)_(88058123_?)del | PKD2 | Pathogenic | 4 | 88928866 | 88979275 | na | na | criteria provided, single submitter | - |
Deletion | NM_000297.4(PKD2):c.2020-1_2020del | PKD2 | Pathogenic/Likely pathogenic | 4 | 88983056 | 88983057 | CAG | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA658657395 |
Duplication | NM_000297.4(PKD2):c.2159dup (p.Asn720fs) | PKD2 | Pathogenic | 4 | 88986558 | 88986559 | G | GA | criteria provided, multiple submitters, no conflicts | OMIM:173910.0006 |
Deletion | NM_000297.4(PKD2):c.2159del (p.Asn720fs) | PKD2 | Pathogenic | 4 | 88986559 | 88986559 | GA | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA3004147 |
single nucleotide variant | NM_000297.4(PKD2):c.2197G>T (p.Gly733Ter) | PKD2 | Likely pathogenic | 4 | 88986604 | 88986604 | G | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000297.4(PKD2):c.2224C>T (p.Arg742Ter) | PKD2 | Pathogenic | 4 | 88986631 | 88986631 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA123160,OMIM:173910.0002 |