Deletion | NM_000335.5(SCN5A):c.5414_5417del (p.Thr1805fs) | SCN5A | Pathogenic/Likely pathogenic | 3 | 38592443 | 38592446 | CTGAG | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA16611455 |
Deletion | NM_000335.5(SCN5A):c.3010_3022del (p.Cys1004fs) | SCN5A | Pathogenic/Likely pathogenic | 3 | 38622628 | 38622640 | GGGGTGGCAATGCA | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA16611470 |
Deletion | NM_000335.5(SCN5A):c.4191del (p.Val1399fs) | SCN5A | Pathogenic/Likely pathogenic | 3 | 38601689 | 38601689 | TC | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16617947 |
Deletion | NM_000335.5(SCN5A):c.3244del (p.Ser1082fs) | SCN5A | Pathogenic/Likely pathogenic | 3 | 38620968 | 38620968 | GA | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA16617948 |
single nucleotide variant | NM_000335.5(SCN5A):c.1921C>T (p.Gln641Ter) | SCN5A | Pathogenic/Likely pathogenic | 3 | 38640511 | 38640511 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA16617953 |
single nucleotide variant | NM_000335.5(SCN5A):c.4144C>T (p.Gln1382Ter) | SCN5A | Pathogenic/Likely pathogenic | 3 | 38601736 | 38601736 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA352146716 |
Deletion | NM_000335.5(SCN5A):c.3992_3996del (p.Pro1331fs) | SCN5A | Pathogenic/Likely pathogenic | 3 | 38601884 | 38601888 | TGGACG | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA645372736 |
Deletion | NM_000335.5(SCN5A):c.5458_5459del (p.Leu1820fs) | SCN5A | Pathogenic/Likely pathogenic | 3 | 38592401 | 38592402 | CAG | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA658655809 |
single nucleotide variant | NM_000335.5(SCN5A):c.3837+1G>A | SCN5A | Pathogenic/Likely pathogenic | 3 | 38607899 | 38607899 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA352148837 |
single nucleotide variant | NM_000335.5(SCN5A):c.3943C>T (p.Arg1315Ter) | SCN5A | Pathogenic/Likely pathogenic | 3 | 38603923 | 38603923 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA352148091 |