single nucleotide variant | NM_182961.4(SYNE1):c.26236C>T (p.Arg8746Ter) | SYNE1 | Pathogenic | 6 | 152443729 | 152443729 | G | A | criteria provided, single submitter | OMIM:608441.0019 |
single nucleotide variant | NM_182961.4(SYNE1):c.25009C>T (p.Gln8337Ter) | SYNE1 | Pathogenic | 6 | 152464868 | 152464868 | G | A | criteria provided, single submitter | ClinGen:CA277296 |
Deletion | NM_182961.2(SYNE1):c.24979del | SYNE1 | Pathogenic | 6 | 152464898 | 152464898 | TC | T | criteria provided, single submitter | - |
Deletion | NM_001347702.2(SYNE1):c.1455del (p.Glu486fs) | SYNE1 | Likely pathogenic | 6 | 152466677 | 152466677 | CG | C | criteria provided, single submitter | ClinGen:CA658796842 |
single nucleotide variant | NM_182961.4(SYNE1):c.24577C>T (p.Arg8193Ter) | SYNE1 | Pathogenic | 6 | 152470677 | 152470677 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA4053145,OMIM:608441.0018 |
single nucleotide variant | NM_182961.4(SYNE1):c.24221C>G (p.Ser8074Ter) | SYNE1 | Pathogenic | 6 | 152473185 | 152473185 | G | C | criteria provided, single submitter | - |
single nucleotide variant | NM_182961.4(SYNE1):c.24127G>T (p.Glu8043Ter) | SYNE1 | Pathogenic | 6 | 152476029 | 152476029 | C | A | criteria provided, single submitter | ClinGen:CA16604879 |
single nucleotide variant | NM_182961.4(SYNE1):c.23995C>T (p.Arg7999Ter) | SYNE1 | Likely pathogenic | 6 | 152476161 | 152476161 | G | A | criteria provided, single submitter | - |
single nucleotide variant | NM_182961.4(SYNE1):c.23979-2A>G | SYNE1 | Pathogenic | 6 | 152476179 | 152476179 | T | C | criteria provided, single submitter | ClinGen:CA366087986 |
Deletion | NM_182961.4(SYNE1):c.23492del (p.Glu7831fs) | SYNE1 | Pathogenic | 6 | 152497664 | 152497664 | CT | C | criteria provided, single submitter | ClinGen:CA658657631 |