single nucleotide variant | NM_138694.4(PKHD1):c.2408-2A>G | PKHD1 | Likely pathogenic | 6 | 51910988 | 51910988 | T | C | criteria provided, single submitter | - |
single nucleotide variant | NM_138694.4(PKHD1):c.3228+1G>C | PKHD1 | Likely pathogenic | 6 | 51900388 | 51900388 | C | G | criteria provided, single submitter | - |
single nucleotide variant | NM_138694.4(PKHD1):c.5237-2A>C | PKHD1 | Likely pathogenic | 6 | 51887744 | 51887744 | T | G | criteria provided, single submitter | - |
single nucleotide variant | NM_138694.4(PKHD1):c.5323C>T (p.Arg1775Ter) | PKHD1 | Pathogenic | 6 | 51887656 | 51887656 | G | A | criteria provided, multiple submitters, no conflicts | - |
Duplication | NM_138694.4(PKHD1):c.5688_5691dup (p.Asn1898fs) | PKHD1 | Likely pathogenic | 6 | 51875166 | 51875167 | T | TGGGC | criteria provided, single submitter | - |
Deletion | NM_138694.4(PKHD1):c.5909-2del | PKHD1 | Pathogenic/Likely pathogenic | 6 | 51799122 | 51799122 | CT | C | criteria provided, multiple submitters, no conflicts | - |
Duplication | NM_138694.4(PKHD1):c.8677dup (p.His2893fs) | PKHD1 | Pathogenic/Likely pathogenic | 6 | 51619701 | 51619702 | T | TG | criteria provided, multiple submitters, no conflicts | - |
Indel | NM_138694.4(PKHD1):c.10086_10087delinsC (p.Gly3363fs) | PKHD1 | Likely pathogenic | 6 | 51609252 | 51609253 | CC | G | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_138694.4(PKHD1):c.10852del (p.Arg3618fs) | PKHD1 | Pathogenic/Likely pathogenic | 6 | 51524072 | 51524072 | CT | C | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_138694.4(PKHD1):c.10856del (p.Lys3619fs) | PKHD1 | Pathogenic | 6 | 51524068 | 51524068 | CT | C | criteria provided, multiple submitters, no conflicts | - |