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_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
Deletion	NC_000011.10:g.(?_47437955)_(47438951_?)del	RAPSN	Pathogenic	11	47459506	47460502	na	na	criteria provided, single submitter	-
Deletion	NC_000012.12:g.(?_6462812)_(6470551_?)del	VAMP1	Pathogenic	12	6571978	6579717	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000080.4(CHRNE):c.1380G>A (p.Trp460Ter)	CHRNE	Pathogenic	17	4802133	4802133	C	T	criteria provided, single submitter	ClinGen:CA397297687
Deletion	NM_000080.4(CHRNE):c.1072_1091del (p.Pro358fs)	CHRNE	Pathogenic	17	4802621	4802640	CCGGGGGGCCTCGGGCGGCGG	C	criteria provided, single submitter	ClinGen:CA287180227
Deletion	NM_005055.5(RAPSN):c.1177_1178del (p.Asn393fs)	RAPSN	Pathogenic	11	47459587	47459588	GTT	G	criteria provided, multiple submitters, no conflicts	OMIM:601592.0012
Deletion	NM_020549.5(CHAT):c.1254del (p.Asn419fs)	CHAT	Likely pathogenic	10	50854692	50854692	GC	G	criteria provided, single submitter	-
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_005592.4(MUSK):c.2357G>A (p.Trp786Ter)	MUSK	Likely pathogenic	9	113563015	113563015	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_173660.5(DOK7):c.437C>T (p.Pro146Leu)	DOK7	Pathogenic	4	3478174	3478174	C	T	criteria provided, multiple submitters, no conflicts	-