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
Duplication	NM_005677.4(COLQ):c.57dup (p.Ile20fs)	COLQ	Pathogenic/Likely pathogenic	3	15563075	15563076	T	TA	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001171613.2(PREPL):c.167del (p.Leu56fs)	PREPL	Pathogenic/Likely pathogenic	2	44571066	44571066	TA	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001171613.2(PREPL):c.1262+1G>A	PREPL	Pathogenic/Likely pathogenic	2	44556075	44556075	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_173660.5(DOK7):c.514G>A (p.Gly172Arg)	DOK7	Pathogenic/Likely pathogenic	4	3478251	3478251	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001171613.2(PREPL):c.616C>T (p.Arg206Ter)	PREPL	Pathogenic/Likely pathogenic	2	44566372	44566372	G	A	criteria provided, multiple submitters, no conflicts	OMIM:609557.0005
single nucleotide variant	NM_005677.4(COLQ):c.1281C>T (p.Cys427=)	COLQ	Pathogenic/Likely pathogenic	3	15495353	15495353	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA2275812
Duplication	NM_001171613.2(PREPL):c.981dup (p.Tyr328fs)	PREPL	Pathogenic/Likely pathogenic	2	44559702	44559703	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658795721
single nucleotide variant	NM_001171613.2(PREPL):c.1263-1G>C	PREPL	Pathogenic/Likely pathogenic	2	44554068	44554068	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA346689817
single nucleotide variant	NM_000080.4(CHRNE):c.1326+1G>A	CHRNE	Pathogenic/Likely pathogenic	17	4802295	4802295	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA397298067
single nucleotide variant	NM_000080.3(CHRNE):c.-95G>A	CHRNE	Pathogenic/Likely pathogenic	17	4806453	4806453	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA287187618