Deletion | NM_001009944.3(PKD1):c.12310_12311del (p.Val4104fs) | PKD1 | Pathogenic | 16 | 2140419 | 2140420 | AAC | A | criteria provided, single submitter | ClinGen:CA16609451 |
Deletion | NM_001009944.3(PKD1):c.12278_12279del (p.Leu4093fs) | PKD1 | Pathogenic | 16 | 2140451 | 2140452 | GCA | G | criteria provided, single submitter | ClinGen:CA658798502 |
Deletion | NM_001009944.3(PKD1):c.12230_12239del (p.Ala4077fs) | PKD1 | Likely pathogenic | 16 | 2140491 | 2140500 | CCAGGACTCGG | C | criteria provided, single submitter | ClinGen:CA658653829 |
Deletion | NM_001009944.3(PKD1):c.12166_12167del (p.Trp4056fs) | PKD1 | Likely pathogenic | 16 | 2140563 | 2140564 | CCA | C | criteria provided, single submitter | - |
single nucleotide variant | NM_001009944.3(PKD1):c.12124C>T (p.Gln4042Ter) | PKD1 | Pathogenic | 16 | 2140689 | 2140689 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA119364,OMIM:601313.0002 |
single nucleotide variant | NM_001009944.3(PKD1):c.12061C>T (p.Arg4021Ter) | PKD1 | Pathogenic | 16 | 2140752 | 2140752 | G | A | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_001009944.3(PKD1):c.12044_12068del (p.Phe4015fs) | PKD1 | Likely pathogenic | 16 | 2140745 | 2140769 | CAGAGCTCGGCATAATGTCTTGCCAA | C | criteria provided, single submitter | - |
single nucleotide variant | NM_001009944.3(PKD1):c.12036G>A (p.Trp4012Ter) | PKD1 | Pathogenic | 16 | 2140777 | 2140777 | C | T | criteria provided, multiple submitters, no conflicts | OMIM:601313.0008 |
single nucleotide variant | NM_001009944.3(PKD1):c.12035G>A (p.Trp4012Ter) | PKD1 | Pathogenic | 16 | 2140778 | 2140778 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA7828865 |
single nucleotide variant | NM_001009944.3(PKD1):c.12031C>T (p.Gln4011Ter) | PKD1 | Pathogenic | 16 | 2140782 | 2140782 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA394328039 |