先天性筋無力症候群

小児・神経疾患

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
single nucleotide variant	NM_020549.5(CHAT):c.631C>G (p.Pro211Ala)	CHAT	Pathogenic	10	50828592	50828592	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA257975,UniProtKB:P28329#VAR_011667,OMIM:118490.0002
single nucleotide variant	NM_020549.5(CHAT):c.1444A>G (p.Arg482Gly)	CHAT	Likely pathogenic	10	50857615	50857615	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA257984,UniProtKB:P28329#VAR_011671,OMIM:118490.0005
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
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.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.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.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.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.1669G>A (p.Ala557Thr)	CHAT	Pathogenic/Likely pathogenic	10	50863175	50863175	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA5497591
Deletion	NM_020549.5(CHAT):c.669del (p.Gln223fs)	CHAT	Pathogenic	10	50828630	50828630	AG	A	criteria provided, single submitter	ClinGen:CA658657962