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_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
Deletion	NC_000002.12:g.(?_44280716)_(44346390_?)del	PREPL	Pathogenic	2	44507855	44573529	na	na	criteria provided, single submitter	-
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_001244710.2(GFPT1):c.982C>T (p.Gln328Ter)	GFPT1	Pathogenic	2	69575330	69575330	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_001171613.2(PREPL):c.427C>T (p.Arg143Ter)	PREPL	Pathogenic	2	44569614	44569614	G	A	criteria provided, single submitter	-
Deletion	NM_001171613.2(PREPL):c.167del (p.Leu56fs)	PREPL	Pathogenic/Likely pathogenic	2	44571066	44571066	TA	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001244710.2(GFPT1):c.197_201del (p.Val66fs)	GFPT1	Pathogenic	2	69597155	69597159	CCTTAA	C	criteria provided, single submitter	-
Deletion	NC_000002.12:g.(?_44321336)_(44346410_?)del	PREPL	Pathogenic	2	44548475	44573549	na	na	criteria provided, single submitter	-
Duplication	NM_000751.3(CHRND):c.521_524dup (p.Ala176fs)	CHRND	Pathogenic	2	233393582	233393583	T	TATAC	criteria provided, single submitter	-
Deletion	NM_001171613.2(PREPL):c.448_451del (p.Lys150fs)	PREPL	Pathogenic	2	44569590	44569593	CGTTT	C	criteria provided, single submitter	-