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_000079.4(CHRNA1):c.235-1G>A	CHRNA1	Likely pathogenic	2	175622404	175622404	C	T	criteria provided, single submitter	ClinGen:CA16617327
Deletion	NM_000079.4(CHRNA1):c.380_381del (p.Lys127fs)	CHRNA1	Likely pathogenic	2	175619106	175619107	CTT	C	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
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.622G>A (p.Val208Met)	CHRNA1	Likely pathogenic	2	175618387	175618387	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16604074
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.711C>A (p.Asn237Lys)	CHRNA1	Pathogenic	2	175618298	175618298	G	T	criteria provided, single submitter	ClinGen:CA349339147
single nucleotide variant	NM_000079.4(CHRNA1):c.778G>T (p.Gly260Trp)	CHRNA1	Likely pathogenic	2	175618231	175618231	C	A	criteria provided, single submitter	ClinGen:CA349338630
single nucleotide variant	NM_000079.4(CHRNA1):c.884G>C (p.Gly295Ala)	CHRNA1	Likely pathogenic	2	175614792	175614792	C	G	criteria provided, single submitter	ClinGen:CA349336541
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