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_020549.5(CHAT):c.1444A>G (p.Arg482Gly)	CHAT	Likely pathogenic	10	50857615	50857615	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA257984,UniProtKB:P28329#VAR_011671,OMIM:118490.0005
single nucleotide variant	NM_020549.5(CHAT):c.631C>G (p.Pro211Ala)	CHAT	Pathogenic	10	50828592	50828592	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA257975,UniProtKB:P28329#VAR_011667,OMIM:118490.0002
Deletion	NM_033087.4(ALG2):c.1040del (p.Gly347fs)	ALG2	Likely pathogenic	9	101980427	101980427	AC	A	criteria provided, single submitter	ClinGen:CA252406,OMIM:607905.0001
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.902_912del (p.Arg301fs)	AGRN	Pathogenic	1	976719	976729	TCCTGCGCCGCG	T	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	NC_000001.11:g.(?_1020153)_(1313808_?)del	AGRN	Pathogenic	1	955533	1249188	na	na	criteria provided, single submitter	-
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.4621C>T (p.Arg1541Ter)	AGRN	Likely pathogenic	1	985052	985052	C	T	criteria provided, single submitter	ClinGen:CA337778755