single nucleotide variant | NM_000297.4(PKD2):c.2523-1G>A | PKD2 | Pathogenic | 4 | 88995963 | 88995963 | G | A | criteria provided, single submitter | ClinGen:CA357627494 |
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.2305G>T (p.Glu769Ter) | PKD2 | Likely pathogenic | 4 | 88986978 | 88986978 | G | T | criteria provided, single submitter | - |
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 | - |
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.2241-2A>G | PKD2 | Pathogenic/Likely pathogenic | 4 | 88986912 | 88986912 | A | G | criteria provided, multiple submitters, no conflicts | - |
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.2224C>T (p.Arg742Ter) | PKD2 | Pathogenic | 4 | 88986631 | 88986631 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA123160,OMIM:173910.0002 |
single nucleotide variant | NM_000297.4(PKD2):c.2197G>T (p.Gly733Ter) | PKD2 | Likely pathogenic | 4 | 88986604 | 88986604 | G | T | criteria provided, single submitter | - |
Deletion | NM_000297.4(PKD2):c.2159del (p.Asn720fs) | PKD2 | Pathogenic | 4 | 88986559 | 88986559 | GA | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA3004147 |