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
Duplication	NM_005677.4(COLQ):c.57dup (p.Ile20fs)	COLQ	Pathogenic/Likely pathogenic	3	15563075	15563076	T	TA	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000009.12:g.(?_110668885)_(110801008_?)del	MUSK	Pathogenic	9	113431165	113563288	na	na	criteria provided, single submitter	-
Duplication	NC_000009.11:g.(?_113457663)_(113524508_?)dup	MUSK	Likely pathogenic	9	113457663	113524508	na	na	criteria provided, single submitter	-
Duplication	NM_001382.4(DPAGT1):c.26dup (p.Met9fs)	DPAGT1	Pathogenic	11	118972339	118972340	C	CA	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_7454277)_(7454540_?)del	CHRNB1	Pathogenic	17	7357596	7357859	na	na	criteria provided, single submitter	-
Deletion	NM_000080.4(CHRNE):c.1220-6_1227del	CHRNE	Likely pathogenic	17	4802395	4802408	AGAAGGCAGCTGGCG	A	criteria provided, single submitter	-
single nucleotide variant	NM_000080.4(CHRNE):c.918-1G>A	CHRNE	Pathogenic	17	4802878	4802878	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000334.4(SCN4A):c.4442C>A (p.Ala1481Asp)	SCN4A	Pathogenic	17	62019200	62019200	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000334.4(SCN4A):c.4300T>C (p.Ser1434Pro)	SCN4A	Pathogenic	17	62019342	62019342	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_001382.4(DPAGT1):c.360G>C (p.Leu120=)	DPAGT1	Pathogenic	11	118971476	118971476	C	G	criteria provided, single submitter	-