single nucleotide variant | NM_001378969.1(KCND3):c.1123C>T (p.Pro375Ser) | KCND3 | Pathogenic | 1 | 112329712 | 112329712 | G | A | criteria provided, single submitter | - |
single nucleotide variant | NM_001378969.1(KCND3):c.1130C>T (p.Thr377Met) | KCND3 | Pathogenic | 1 | 112329705 | 112329705 | G | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_001378969.1(KCND3):c.1051T>C (p.Phe351Leu) | KCND3 | Likely pathogenic | 1 | 112524298 | 112524298 | A | G | criteria provided, single submitter | ClinGen:CA16616957 |
single nucleotide variant | NM_001378969.1(KCND3):c.1111G>A (p.Gly371Arg) | KCND3 | Pathogenic/Likely pathogenic | 1 | 112329724 | 112329724 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16603398 |
single nucleotide variant | NM_001378969.1(KCND3):c.1195G>C (p.Val399Leu) | KCND3 | Likely pathogenic | 1 | 112329640 | 112329640 | C | G | criteria provided, single submitter | ClinGen:CA16042284 |
single nucleotide variant | NM_001378969.1(KCND3):c.1034G>T (p.Gly345Val) | KCND3 | Pathogenic | 1 | 112524315 | 112524315 | C | A | criteria provided, single submitter | ClinGen:CA277344,UniProtKB:Q9UK17#VAR_070787 |
single nucleotide variant | NM_001378969.1(KCND3):c.1054A>C (p.Thr352Pro) | KCND3 | Pathogenic | 1 | 112524295 | 112524295 | T | G | criteria provided, single submitter | ClinGen:CA264792,UniProtKB:Q9UK17#VAR_070788,OMIM:605411.0002 |
single nucleotide variant | NM_005477.3(HCN4):c.1471G>C (p.Asp491His) | HCN4 | Likely pathogenic | 15 | 73622033 | 73622033 | C | G | criteria provided, single submitter | - |
single nucleotide variant | NM_005477.3(HCN4):c.2143+1G>A | HCN4 | Likely pathogenic | 15 | 73616429 | 73616429 | C | T | criteria provided, single submitter | ClinGen:CA393089784 |
single nucleotide variant | NM_005477.3(HCN4):c.1439G>T (p.Gly480Val) | HCN4 | Likely pathogenic | 15 | 73622065 | 73622065 | C | A | criteria provided, single submitter | ClinGen:CA16614737 |