single nucleotide variant | NM_020549.5(CHAT):c.2081C>G (p.Ser694Cys) | CHAT | Pathogenic | 10 | 50872926 | 50872926 | C | G | criteria provided, single submitter | ClinGen:CA206624072 |
single nucleotide variant | NM_020549.5(CHAT):c.1061C>T (p.Thr354Met) | CHAT | Pathogenic | 10 | 50835781 | 50835781 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA5497343 |
Deletion | NM_020549.5(CHAT):c.669del (p.Gln223fs) | CHAT | Pathogenic | 10 | 50828630 | 50828630 | AG | A | criteria provided, single submitter | ClinGen:CA658657962 |
single nucleotide variant | NM_020549.5(CHAT):c.1669G>A (p.Ala557Thr) | CHAT | Pathogenic/Likely pathogenic | 10 | 50863175 | 50863175 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA5497591 |
single nucleotide variant | NM_020549.5(CHAT):c.1642C>T (p.Arg548Ter) | CHAT | Pathogenic | 10 | 50863148 | 50863148 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA5497581 |
single nucleotide variant | NM_020549.5(CHAT):c.635T>A (p.Val212Asp) | CHAT | Likely pathogenic | 10 | 50828596 | 50828596 | T | A | criteria provided, single submitter | ClinGen:CA376727558 |
single nucleotide variant | NM_020549.5(CHAT):c.85A>T (p.Arg29Ter) | CHAT | Pathogenic | 10 | 50822320 | 50822320 | A | T | criteria provided, single submitter | ClinGen:CA10605520 |
single nucleotide variant | NM_020549.5(CHAT):c.418C>T (p.Gln140Ter) | CHAT | Pathogenic | 10 | 50827801 | 50827801 | C | T | criteria provided, single submitter | ClinGen:CA275188 |
single nucleotide variant | NM_020549.5(CHAT):c.1007T>C (p.Ile336Thr) | CHAT | Likely pathogenic | 10 | 50835727 | 50835727 | T | C | criteria provided, single submitter | ClinGen:CA258002,UniProtKB:P28329#VAR_038605,OMIM:118490.0011 |
single nucleotide variant | NM_020549.5(CHAT):c.1258C>T (p.Arg420Cys) | CHAT | Likely pathogenic | 10 | 50854697 | 50854697 | C | T | criteria provided, single submitter | ClinGen:CA257999,UniProtKB:P28329#VAR_011669,OMIM:118490.0010 |