Deletion | NM_138694.4(PKHD1):c.7866del (p.Tyr2623fs) | PKHD1 | Likely pathogenic | 6 | 51720736 | 51720736 | AG | A | criteria provided, single submitter | ClinGen:CA16041039 |
Deletion | NM_138694.4(PKHD1):c.7888del (p.Leu2630fs) | PKHD1 | Pathogenic | 6 | 51720714 | 51720714 | AG | A | criteria provided, single submitter | - |
Deletion | NM_138694.4(PKHD1):c.7893del (p.Leu2630_Trp2631insTer) | PKHD1 | Likely pathogenic | 6 | 51720709 | 51720709 | TC | T | criteria provided, single submitter | ClinGen:CA16041038 |
single nucleotide variant | NM_138694.4(PKHD1):c.7912-2A>G | PKHD1 | Likely pathogenic | 6 | 51712770 | 51712770 | T | C | criteria provided, single submitter | - |
single nucleotide variant | NM_138694.4(PKHD1):c.7912-1G>A | PKHD1 | Likely pathogenic | 6 | 51712769 | 51712769 | C | T | criteria provided, single submitter | - |
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 |
Deletion | NM_138694.4(PKHD1):c.7973_7977del (p.Leu2658fs) | PKHD1 | Pathogenic | 6 | 51712703 | 51712707 | GCGGCA | G | criteria provided, single submitter | - |
single nucleotide variant | NM_138694.4(PKHD1):c.8011C>T (p.Arg2671Ter) | PKHD1 | Pathogenic | 6 | 51712669 | 51712669 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA253011,OMIM:606702.0005 |
single nucleotide variant | NM_138694.4(PKHD1):c.8050C>T (p.Gln2684Ter) | PKHD1 | Likely pathogenic | 6 | 51712630 | 51712630 | G | A | criteria provided, single submitter | ClinGen:CA16041037 |
single nucleotide variant | NM_138694.4(PKHD1):c.8068T>C (p.Trp2690Arg) | PKHD1 | Pathogenic/Likely pathogenic | 6 | 51712612 | 51712612 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA10624394 |