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_173660.5(DOK7):c.513C>T (p.Gly171=)	DOK7	Pathogenic/Likely pathogenic	4	3478250	3478250	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA2829017
single nucleotide variant	NM_001382.4(DPAGT1):c.1123C>T (p.His375Tyr)	DPAGT1	Likely pathogenic	11	118967890	118967890	G	A	criteria provided, single submitter	ClinGen:CA6314458
single nucleotide variant	NM_001382.4(DPAGT1):c.362G>A (p.Arg121His)	DPAGT1	Likely pathogenic	11	118971474	118971474	C	T	criteria provided, single submitter	ClinGen:CA382915184
Indel	NM_005055.5(RAPSN):c.149_153delinsAGATGGGCCGCTACAAGGAGATGG (p.Val50fs)	RAPSN	Pathogenic	11	47470364	47470368	TGTGA	CCATCTCCTTGTAGCGGCCCATCT	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369518
Duplication	NM_000080.4(CHRNE):c.183_187dup (p.Leu63fs)	CHRNE	Pathogenic/Likely pathogenic	17	4805917	4805918	A	AGTGAG	criteria provided, multiple submitters, no conflicts	ClinGen:CA8314588
single nucleotide variant	NM_000334.4(SCN4A):c.3781G>T (p.Glu1261Ter)	SCN4A	Pathogenic	17	62022164	62022164	C	A	criteria provided, single submitter	ClinGen:CA8709137
Indel	NM_000747.3(CHRNB1):c.295_299delinsACG (p.Asp99fs)	CHRNB1	Pathogenic	17	7350203	7350207	GATTC	ACG	criteria provided, single submitter	ClinGen:CA645369683
Duplication	NM_173660.5(DOK7):c.1021_1039dup (p.Ser347fs)	DOK7	Pathogenic	4	3494733	3494734	C	CGCCACTGGCAGCCACTCCT	criteria provided, single submitter	ClinGen:CA645372746
single nucleotide variant	NM_020549.5(CHAT):c.635T>A (p.Val212Asp)	CHAT	Likely pathogenic	10	50828596	50828596	T	A	criteria provided, single submitter	ClinGen:CA376727558
Duplication	NM_000080.4(CHRNE):c.1090dup (p.Arg364fs)	CHRNE	Pathogenic	17	4802621	4802622	C	CG	criteria provided, multiple submitters, no conflicts	ClinGen:CA624855892