Deletion | NM_138694.4(PKHD1):c.10443del (p.Leu3481fs) | PKHD1 | Pathogenic | 6 | 51524481 | 51524481 | GC | G | criteria provided, single submitter | ClinGen:CA658657598 |
single nucleotide variant | NM_138694.4(PKHD1):c.10628T>C (p.Leu3543Ser) | PKHD1 | Pathogenic | 6 | 51524296 | 51524296 | A | G | criteria provided, single submitter | ClinGen:CA364433489 |
single nucleotide variant | NM_138694.4(PKHD1):c.11612G>A (p.Trp3871Ter) | PKHD1 | Pathogenic | 6 | 51497416 | 51497416 | C | T | criteria provided, single submitter | ClinGen:CA364420082 |
Deletion | NM_138694.4(PKHD1):c.4295del (p.Val1432fs) | PKHD1 | Pathogenic | 6 | 51890313 | 51890313 | CA | C | criteria provided, single submitter | ClinGen:CA567636252 |
single nucleotide variant | NM_138694.4(PKHD1):c.2811G>A (p.Trp937Ter) | PKHD1 | Pathogenic | 6 | 51908433 | 51908433 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA364442529 |
Deletion | NM_138694.4(PKHD1):c.5411del (p.Arg1804fs) | PKHD1 | Pathogenic | 6 | 51882397 | 51882397 | AC | A | criteria provided, single submitter | ClinGen:CA658657597 |
Duplication | NM_000297.4(PKD2):c.203dup (p.Ala69fs) | PKD2 | Pathogenic | 4 | 88929082 | 88929083 | A | AC | criteria provided, multiple submitters, no conflicts | ClinGen:CA658657390,OMIM:173910.0007 |
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 |
Deletion | NC_000004.12:g.(?_88007714)_(88058123_?)del | PKD2 | Pathogenic | 4 | 88928866 | 88979275 | na | na | criteria provided, single submitter | - |
Duplication | NM_001009944.3(PKD1):c.6549dup (p.Glu2184Ter) | PKD1 | Pathogenic | 16 | 2158618 | 2158619 | C | CA | criteria provided, multiple submitters, no conflicts | ClinGen:CA658658351 |