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_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	-
Deletion	NM_173660.5(DOK7):c.28del (p.Gln10fs)	DOK7	Pathogenic	4	3465129	3465129	GC	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_173660.5(DOK7):c.1215T>G (p.Tyr405Ter)	DOK7	Likely pathogenic	4	3494928	3494928	T	G	criteria provided, single submitter	-
Deletion	NM_173660.5(DOK7):c.1264del (p.Ser422fs)	DOK7	Pathogenic	4	3494977	3494977	CT	C	criteria provided, single submitter	-
single nucleotide variant	NM_001382.4(DPAGT1):c.398C>G (p.Ser133Ter)	DPAGT1	Pathogenic	11	118971438	118971438	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_005055.5(RAPSN):c.997G>T (p.Glu333Ter)	RAPSN	Pathogenic	11	47460452	47460452	C	A	criteria provided, single submitter	-
Deletion	NM_000080.4(CHRNE):c.1371del (p.Cys458fs)	CHRNE	Pathogenic/Likely pathogenic	17	4802142	4802142	AG	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000080.4(CHRNE):c.1323dup (p.Glu442fs)	CHRNE	Pathogenic	17	4802298	4802299	C	CG	criteria provided, single submitter	-
Duplication	NM_000080.4(CHRNE):c.1250_1268dup (p.Val424fs)	CHRNE	Pathogenic	17	4802353	4802354	A	ACAGCAGCGGACCTCGGGGG	criteria provided, single submitter	-