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.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_000080.4(CHRNE):c.850A>C (p.Thr284Pro)	CHRNE	Pathogenic/Likely pathogenic	17	4804155	4804155	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA128055,UniProtKB:Q04844#VAR_000292,OMIM:100725.0001
single nucleotide variant	NM_000080.4(CHRNE):c.865C>T (p.Leu289Phe)	CHRNE	Pathogenic/Likely pathogenic	17	4804140	4804140	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA128056,UniProtKB:Q04844#VAR_000293,OMIM:100725.0002
single nucleotide variant	NM_000080.4(CHRNE):c.500G>T (p.Arg167Leu)	CHRNE	Pathogenic	17	4805227	4805227	C	A	criteria provided, multiple submitters, no conflicts	OMIM:100725.0005,ClinGen:CA258173,UniProtKB:Q04844#VAR_000290
single nucleotide variant	NM_000080.4(CHRNE):c.422C>T (p.Pro141Leu)	CHRNE	Pathogenic	17	4805305	4805305	G	A	criteria provided, multiple submitters, no conflicts	UniProtKB:Q04844#VAR_000289,OMIM:100725.0003,ClinGen:CA128057
single nucleotide variant	NM_000080.4(CHRNE):c.250C>T (p.Arg84Ter)	CHRNE	Pathogenic	17	4805606	4805606	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA258174,OMIM:100725.0004
Deletion	NM_000080.4(CHRNE):c.971del (p.Ile324fs)	CHRNE	Pathogenic/Likely pathogenic	17	4802824	4802824	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10575535,Leiden Muscular Dystrophy (CHRNE):CHRNE_00031,OMIM:100725.0006
single nucleotide variant	NM_000080.4(CHRNE):c.721C>T (p.Leu241Phe)	CHRNE	Pathogenic	17	4804366	4804366	G	A	criteria provided, single submitter	ClinGen:CA128058,UniProtKB:Q04844#VAR_019568,OMIM:100725.0010
Insertion	NM_000080.4(CHRNE):c.1161_1162insT (p.Lys388Ter)	CHRNE	Pathogenic	17	4802550	4802551	T	TA	criteria provided, single submitter	ClinGen:CA10575539,OMIM:100725.0013