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_000334.4(SCN4A):c.692C>T (p.Thr231Met)	SCN4A	Likely pathogenic	17	62048533	62048533	G	A	criteria provided, single submitter	ClinGen:CA292972551
single nucleotide variant	NM_020549.5(CHAT):c.1061C>T (p.Thr354Met)	CHAT	Pathogenic	10	50835781	50835781	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA5497343
single nucleotide variant	NM_020549.5(CHAT):c.2081C>G (p.Ser694Cys)	CHAT	Pathogenic	10	50872926	50872926	C	G	criteria provided, single submitter	ClinGen:CA206624072
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_005592.4(MUSK):c.2446C>T (p.Arg816Ter)	MUSK	Likely pathogenic	9	113563104	113563104	C	T	criteria provided, single submitter	ClinGen:CA374479779
Deletion	NC_000001.11:g.(?_1020153)_(1313808_?)del	AGRN	Pathogenic	1	955533	1249188	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000751.3(CHRND):c.769T>C (p.Cys257Arg)	CHRND	Pathogenic	2	233394798	233394798	T	C	criteria provided, single submitter	ClinGen:CA66952998
single nucleotide variant	NM_001171613.2(PREPL):c.-48-2A>G	PREPL	Likely pathogenic	2	44573531	44573531	T	C	criteria provided, single submitter	ClinGen:CA1641690
single nucleotide variant	NM_001244710.2(GFPT1):c.686-2A>G	GFPT1	Pathogenic	2	69581446	69581446	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA49524691
single nucleotide variant	NM_001244710.2(GFPT1):c.1105+1G>A	GFPT1	Likely pathogenic	2	69573035	69573035	C	T	criteria provided, single submitter	ClinGen:CA347126168