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_001382.4(DPAGT1):c.584C>G (p.Ala195Gly)	DPAGT1	Pathogenic	11	118971031	118971031	G	C	criteria provided, single submitter	ClinGen:CA279840
single nucleotide variant	NM_001382.4(DPAGT1):c.1123C>T (p.His375Tyr)	DPAGT1	Likely pathogenic	11	118967890	118967890	G	A	criteria provided, single submitter	ClinGen:CA6314458
single nucleotide variant	NM_005592.4(MUSK):c.2446C>T (p.Arg816Ter)	MUSK	Likely pathogenic	9	113563104	113563104	C	T	criteria provided, single submitter	ClinGen:CA374479779
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_005592.4(MUSK):c.2357G>A (p.Trp786Ter)	MUSK	Likely pathogenic	9	113563015	113563015	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_005592.4(MUSK):c.1724T>C (p.Ile575Thr)	MUSK	Pathogenic/Likely pathogenic	9	113547944	113547944	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA5184434,UniProtKB:O15146#VAR_072787,OMIM:601296.0006
single nucleotide variant	NM_005592.4(MUSK):c.754-2A>G	MUSK	Likely pathogenic	9	113509919	113509919	A	G	criteria provided, single submitter	-
Deletion	NC_000009.12:g.(?_110734231)_(110734395_?)del	MUSK	Pathogenic	9	113496511	113496675	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_005592.4(MUSK):c.486+1G>C	MUSK	Likely pathogenic	9	113457811	113457811	G	C	criteria provided, single submitter	-
Duplication	NC_000009.11:g.(?_113457663)_(113524508_?)dup	MUSK	Likely pathogenic	9	113457663	113524508	na	na	criteria provided, single submitter	-