single nucleotide variant | NM_000334.4(SCN4A):c.2009C>A (p.Ser670Tyr) | SCN4A | Pathogenic | 17 | 62036635 | 62036635 | G | T | criteria provided, single submitter | - |
Deletion | NM_000334.4(SCN4A):c.1173del (p.Phe392fs) | SCN4A | Pathogenic/Likely pathogenic | 17 | 62043531 | 62043531 | AG | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000334.4(SCN4A):c.4372G>T (p.Val1458Phe) | SCN4A | Pathogenic/Likely pathogenic | 17 | 62019270 | 62019270 | C | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000334.4(SCN4A):c.3929T>A (p.Ile1310Asn) | SCN4A | Pathogenic/Likely pathogenic | 17 | 62021194 | 62021194 | A | T | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_000080.4(CHRNE):c.794del (p.Pro265fs) | CHRNE | Pathogenic | 17 | 4804293 | 4804293 | CG | C | criteria provided, multiple submitters, no conflicts | - |
Duplication | NM_000080.4(CHRNE):c.848_852dup (p.Val285fs) | CHRNE | Pathogenic | 17 | 4804152 | 4804153 | C | CGGTCT | criteria provided, single submitter | - |
single nucleotide variant | NM_000334.4(SCN4A):c.4300T>C (p.Ser1434Pro) | SCN4A | Pathogenic | 17 | 62019342 | 62019342 | A | G | criteria provided, single submitter | - |
single nucleotide variant | NM_000334.4(SCN4A):c.4442C>A (p.Ala1481Asp) | SCN4A | Pathogenic | 17 | 62019200 | 62019200 | G | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000080.4(CHRNE):c.918-1G>A | CHRNE | Pathogenic | 17 | 4802878 | 4802878 | C | T | criteria provided, single submitter | - |
Deletion | NM_000080.4(CHRNE):c.1220-6_1227del | CHRNE | Likely pathogenic | 17 | 4802395 | 4802408 | AGAAGGCAGCTGGCG | A | criteria provided, single submitter | - |