Deletion | NM_000335.5(SCN5A):c.4187del (p.Lys1396fs) | SCN5A | Pathogenic | 3 | 38601693 | 38601693 | CT | C | criteria provided, single submitter | ClinGen:CA017930,OMIM:600163.0006 |
single nucleotide variant | NM_000335.5(SCN5A):c.4864C>T (p.Arg1622Ter) | SCN5A | Pathogenic | 3 | 38592996 | 38592996 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA018662,OMIM:600163.0028 |
single nucleotide variant | NM_000335.5(SCN5A):c.5381A>G (p.Tyr1794Cys) | SCN5A | Pathogenic | 3 | 38592479 | 38592479 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA019196,OMIM:600163.0029 |
single nucleotide variant | NM_000335.5(SCN5A):c.4865G>A (p.Arg1622Gln) | SCN5A | Pathogenic | 3 | 38592995 | 38592995 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA018670,OMIM:600163.0007 |
single nucleotide variant | NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys) | SCN5A | Pathogenic/Likely pathogenic | 3 | 38592513 | 38592513 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA019148,UniProtKB:Q14524#VAR_008959,OMIM:600163.0008 |
single nucleotide variant | NM_000335.5(SCN5A):c.3960+2T>C | SCN5A | Pathogenic | 3 | 38603904 | 38603904 | A | G | criteria provided, single submitter | ClinGen:CA017663,OMIM:600163.0009 |
single nucleotide variant | NM_000335.5(SCN5A):c.5126C>T (p.Ser1709Leu) | SCN5A | Pathogenic/Likely pathogenic | 3 | 38592734 | 38592734 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA018910,OMIM:600163.0014 |
Indel | NM_000335.5(SCN5A):c.2821_2822delinsAA (p.Ser941Asn) | SCN5A | Likely pathogenic | 3 | 38622828 | 38622829 | GA | TT | criteria provided, single submitter | ClinGen:CA016545,OMIM:600163.0015 |
single nucleotide variant | NM_000335.5(SCN5A):c.4780G>A (p.Asp1594Asn) | SCN5A | Pathogenic/Likely pathogenic | 3 | 38595800 | 38595800 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA018551,UniProtKB:Q14524#VAR_017683,OMIM:600163.0017 |
single nucleotide variant | NM_000335.5(SCN5A):c.2989G>T (p.Ala997Ser) | SCN5A | Pathogenic/Likely pathogenic | 3 | 38622661 | 38622661 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA016718,UniProtKB:Q14524#VAR_017676,OMIM:600163.0019 |