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.622G>A (p.Val208Met)	CHRNA1	Likely pathogenic	2	175618387	175618387	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16604074
single nucleotide variant	NM_001244710.2(GFPT1):c.41G>A (p.Arg14Gln)	GFPT1	Pathogenic/Likely pathogenic	2	69601212	69601212	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16604348
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
single nucleotide variant	NM_000751.3(CHRND):c.933-2A>G	CHRND	Likely pathogenic	2	233396250	233396250	A	G	criteria provided, single submitter	ClinGen:CA16617496
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.175C>T (p.Gln59Ter)	CHRNA1	Pathogenic	2	175624230	175624230	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA1974690
single nucleotide variant	NM_000079.4(CHRNA1):c.1321G>A (p.Gly441Arg)	CHRNA1	Pathogenic/Likely pathogenic	2	175612905	175612905	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA1974303
Deletion	NC_000002.12:g.(?_44321336)_(44359735_?)del	PREPL	Pathogenic	2	44548475	44586874	na	na	criteria provided, single submitter	-
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