single nucleotide variant | NM_001009944.3(PKD1):c.12010C>T (p.Gln4004Ter) | PKD1 | Pathogenic | 16 | 2140803 | 2140803 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA7828876 |
single nucleotide variant | NM_001009944.3(PKD1):c.11944C>T (p.Gln3982Ter) | PKD1 | Pathogenic | 16 | 2140944 | 2140944 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA394328913 |
Duplication | NM_001009944.3(PKD1):c.11921_11942dup (p.Ala3981_Gln3982insHisTer) | PKD1 | Likely pathogenic | 16 | 2140945 | 2140946 | C | CGCCACCTGGTCGAAGCTAGTGA | criteria provided, single submitter | - |
Deletion | NM_001009944.3(PKD1):c.11912del (p.Pro3971fs) | PKD1 | Pathogenic | 16 | 2140976 | 2140976 | CG | C | criteria provided, single submitter | ClinGen:CA645509208 |
single nucleotide variant | NM_001009944.3(PKD1):c.11713-1G>A | PKD1 | Pathogenic/Likely pathogenic | 16 | 2141176 | 2141176 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA394330362 |
single nucleotide variant | NM_001009944.3(PKD1):c.11713-2A>G | PKD1 | Pathogenic | 16 | 2141177 | 2141177 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA394330372 |
Duplication | NM_001009944.3(PKD1):c.11570dup (p.Tyr3857Ter) | PKD1 | Likely pathogenic | 16 | 2141565 | 2141566 | G | GT | criteria provided, single submitter | ClinGen:CA658656504 |
Deletion | NM_001009944.3(PKD1):c.11563_11564del (p.Thr3855fs) | PKD1 | Pathogenic | 16 | 2141572 | 2141573 | CGT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA658798504 |
Duplication | NM_001009944.3(PKD1):c.11563dup (p.Thr3855fs) | PKD1 | Likely pathogenic | 16 | 2141572 | 2141573 | G | GT | criteria provided, single submitter | - |
Deletion | NM_001009944.3(PKD1):c.11554del (p.Leu3852fs) | PKD1 | Pathogenic | 16 | 2141582 | 2141582 | AG | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA210902 |