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.1061C>T (p.Thr354Met)	CHAT	Pathogenic	10	50835781	50835781	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA5497343
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
Deletion	NM_020549.5(CHAT):c.1254del (p.Asn419fs)	CHAT	Likely pathogenic	10	50854692	50854692	GC	G	criteria provided, single submitter	-
Deletion	NC_000010.11:g.(?_49614170)_(49665066_?)del	CHAT	Pathogenic	10	50822216	50873112	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000079.4(CHRNA1):c.517G>A (p.Gly173Ser)	CHRNA1	Pathogenic/Likely pathogenic	2	175618970	175618970	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA258183,UniProtKB:P02708#VAR_000282,OMIM:100690.0004
single nucleotide variant	NM_000079.4(CHRNA1):c.997C>T (p.Arg333Trp)	CHRNA1	Pathogenic/Likely pathogenic	2	175614679	175614679	G	A	criteria provided, multiple submitters, no conflicts	OMIM:100690.0016
single nucleotide variant	NM_000079.4(CHRNA1):c.687C>T (p.Arg229=)	CHRNA1	Likely pathogenic	2	175618322	175618322	G	A	criteria provided, single submitter	ClinGen:CA199695
single nucleotide variant	NM_000079.4(CHRNA1):c.622G>A (p.Val208Met)	CHRNA1	Likely pathogenic	2	175618387	175618387	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16604074
Duplication	NM_000079.4(CHRNA1):c.518dup (p.Ser174fs)	CHRNA1	Pathogenic/Likely pathogenic	2	175618968	175618969	G	GC	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617326
single nucleotide variant	NM_000079.4(CHRNA1):c.235-1G>A	CHRNA1	Likely pathogenic	2	175622404	175622404	C	T	criteria provided, single submitter	ClinGen:CA16617327