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_005984.5(SLC25A1):c.821C>T (p.Ala274Val)	SLC25A1	Likely pathogenic	22	19163934	19163934	G	A	criteria provided, single submitter	ClinGen:CA130984,OMIM:190315.0005
single nucleotide variant	NM_005984.5(SLC25A1):c.844C>T (p.Arg282Cys)	SLC25A1	Pathogenic/Likely pathogenic	22	19163735	19163735	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA130979,UniProtKB:P53007#VAR_069495,OMIM:190315.0002
single nucleotide variant	NM_005984.5(SLC25A1):c.844C>G (p.Arg282Gly)	SLC25A1	Likely pathogenic	22	19163735	19163735	G	C	criteria provided, single submitter	ClinGen:CA130978,UniProtKB:P53007#VAR_069496,OMIM:190315.0001
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
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
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.1192G>C (p.Asp398His)	SLC18A3	Likely pathogenic	10	50819978	50819978	G	C	criteria provided, single submitter	ClinGen:CA16042222,OMIM:600336.0002
single nucleotide variant	NM_000334.4(SCN4A):c.808C>A (p.Gln270Lys)	SCN4A	Pathogenic	17	62045611	62045611	G	T	criteria provided, single submitter	-
Deletion	NM_000334.4(SCN4A):c.2919del (p.Glu974fs)	SCN4A	Pathogenic	17	62026823	62026823	CG	C	criteria provided, single submitter	-
single nucleotide variant	NM_000334.4(SCN4A):c.4307T>C (p.Leu1436Pro)	SCN4A	Pathogenic	17	62019335	62019335	A	G	criteria provided, multiple submitters, no conflicts	-