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.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_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_198576.4(AGRN):c.5179G>T (p.Val1727Phe)	AGRN	Likely pathogenic	1	986143	986143	G	T	criteria provided, single submitter	ClinGen:CA151196,OMIM:103320.0002
single nucleotide variant	NM_000079.4(CHRNA1):c.687C>T (p.Arg229=)	CHRNA1	Likely pathogenic	2	175618322	175618322	G	A	criteria provided, single submitter	ClinGen:CA199695
single nucleotide variant	NM_130811.4(SNAP25):c.142G>T (p.Val48Phe)	SNAP25	Likely pathogenic	20	10265399	10265399	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA204648
single nucleotide variant	NM_005592.4(MUSK):c.2382G>C (p.Glu794Asp)	MUSK	Likely pathogenic	9	113563040	113563040	G	C	criteria provided, single submitter	ClinGen:CA339639
single nucleotide variant	NM_198576.4(AGRN):c.226G>A (p.Gly76Ser)	AGRN	Likely pathogenic	1	957605	957605	G	A	criteria provided, single submitter	ClinGen:CA507784
Deletion	NM_021815.5(SLC5A7):c.123_126del (p.Ala41_Ile42insTer)	SLC5A7	Likely pathogenic	2	108604733	108604736	GCCAT	G	criteria provided, single submitter	ClinGen:CA10588815,OMIM:608761.0005
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
Deletion	NM_000751.3(CHRND):c.822del (p.Ser274fs)	CHRND	Likely pathogenic	2	233396063	233396063	GT	G	criteria provided, single submitter	ClinGen:CA16043387