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.3473C>T (p.Pro1158Leu)	SCN4A	Likely pathogenic	17	62022967	62022967	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA400618699
single nucleotide variant	NM_000079.4(CHRNA1):c.1321G>A (p.Gly441Arg)	CHRNA1	Pathogenic/Likely pathogenic	2	175612905	175612905	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA1974303
Deletion	NM_005677.4(COLQ):c.937del (p.Ser313fs)	COLQ	Pathogenic	3	15499710	15499710	GA	G	criteria provided, single submitter	ClinGen:CA658657276
single nucleotide variant	NM_173660.5(DOK7):c.331+1G>T	DOK7	Pathogenic	4	3475364	3475364	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA356113804,OMIM:610285.0009
Deletion	NM_003055.3(SLC18A3):c.347del (p.Pro116fs)	SLC18A3	Likely pathogenic	10	50819131	50819131	AC	A	criteria provided, single submitter	ClinGen:CA658657960
single nucleotide variant	NM_003055.3(SLC18A3):c.599T>A (p.Ile200Asn)	SLC18A3	Likely pathogenic	10	50819385	50819385	T	A	criteria provided, single submitter	ClinGen:CA376719637
single nucleotide variant	NM_003055.3(SLC18A3):c.945G>A (p.Trp315Ter)	SLC18A3	Likely pathogenic	10	50819731	50819731	G	A	criteria provided, single submitter	ClinGen:CA376721353
Deletion	NM_000080.4(CHRNE):c.934_936del (p.Met312del)	CHRNE	Pathogenic/Likely pathogenic	17	4802859	4802861	CCAT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658526
single nucleotide variant	NM_000747.3(CHRNB1):c.727C>T (p.Arg243Cys)	CHRNB1	Pathogenic/Likely pathogenic	17	7352014	7352014	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA8347872
single nucleotide variant	NM_005984.5(SLC25A1):c.302+1G>T	SLC25A1	Pathogenic	22	19165454	19165454	C	A	criteria provided, single submitter	ClinGen:CA410639866