single nucleotide variant | NM_138694.4(PKHD1):c.2810G>A (p.Trp937Ter) | PKHD1 | Pathogenic/Likely pathogenic | 6 | 51908434 | 51908434 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA274389 |
single nucleotide variant | NM_138694.4(PKHD1):c.3367G>A (p.Gly1123Ser) | PKHD1 | Pathogenic/Likely pathogenic | 6 | 51893147 | 51893147 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA274186,UniProtKB:P08F94#VAR_018542 |
single nucleotide variant | NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys) | PKHD1 | Pathogenic/Likely pathogenic | 6 | 51768399 | 51768399 | A | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA273991,UniProtKB:P08F94#VAR_014056 |
single nucleotide variant | NM_138694.4(PKHD1):c.7916C>A (p.Ser2639Ter) | PKHD1 | Pathogenic/Likely pathogenic | 6 | 51712764 | 51712764 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA274412 |
single nucleotide variant | NM_138694.4(PKHD1):c.9319C>T (p.Arg3107Ter) | PKHD1 | Pathogenic/Likely pathogenic | 6 | 51613095 | 51613095 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA274366 |
single nucleotide variant | NM_138694.4(PKHD1):c.10444C>T (p.Arg3482Cys) | PKHD1 | Pathogenic/Likely pathogenic | 6 | 51524480 | 51524480 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA274092,UniProtKB:P08F94#VAR_018591 |
Duplication | NM_138694.4(PKHD1):c.10452dup (p.Leu3485fs) | PKHD1 | Pathogenic/Likely pathogenic | 6 | 51524471 | 51524472 | G | GA | criteria provided, multiple submitters, no conflicts | ClinGen:CA274359 |
single nucleotide variant | NM_138694.4(PKHD1):c.11524C>T (p.Arg3842Ter) | PKHD1 | Pathogenic/Likely pathogenic | 6 | 51497504 | 51497504 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA273916 |
single nucleotide variant | NM_138694.4(PKHD1):c.8303-1G>A | PKHD1 | Pathogenic | 6 | 51656172 | 51656172 | C | T | criteria provided, single submitter | ClinGen:CA334735 |
Deletion | NM_138694.4(PKHD1):c.4733del (p.Tyr1578fs) | PKHD1 | Pathogenic/Likely pathogenic | 6 | 51889875 | 51889875 | AT | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA234573 |