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.331+1G>T	DOK7	Pathogenic	4	3475364	3475364	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA356113804,OMIM:610285.0009
Deletion	NC_000004.12:g.(?_3473386)_(3489816_?)del	DOK7	Pathogenic	4	3475113	3491543	na	na	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	-
Duplication	NM_198576.4(AGRN):c.5312dup (p.Ser1772fs)	AGRN	Likely pathogenic	1	986689	986690	C	CT	criteria provided, single submitter	ClinGen:CA658795341
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_198576.4(AGRN):c.4621C>T (p.Arg1541Ter)	AGRN	Likely pathogenic	1	985052	985052	C	T	criteria provided, single submitter	ClinGen:CA337778755
single nucleotide variant	NM_198576.4(AGRN):c.1275C>G (p.Tyr425Ter)	AGRN	Pathogenic	1	977433	977433	C	G	criteria provided, single submitter	-
Duplication	NM_198576.4(AGRN):c.1036_1039dup (p.Glu347fs)	AGRN	Pathogenic	1	976939	976940	G	GGCCC	criteria provided, single submitter	-
Deletion	NM_198576.4(AGRN):c.914_947del (p.Arg305fs)	AGRN	Pathogenic	1	976735	976768	CGCCCGCCAGGAGAATGTCTTCAAGAAGTTCGACG	C	criteria provided, single submitter	-
Deletion	NM_198576.4(AGRN):c.902_912del (p.Arg301fs)	AGRN	Pathogenic	1	976719	976729	TCCTGCGCCGCG	T	criteria provided, single submitter	-