ウィルソン病 - MGenReviews

ウィルソン病

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_000053.4(ATP7B):c.994G>T (p.Glu332Ter)	ATP7B	Pathogenic	13	52548362	52548362	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000053.4(ATP7B):c.970A>T (p.Lys324Ter)	ATP7B	Pathogenic/Likely pathogenic	13	52548386	52548386	T	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000053.4(ATP7B):c.915T>A (p.Cys305Ter)	ATP7B	Pathogenic	13	52548441	52548441	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA220313
single nucleotide variant	NM_000053.4(ATP7B):c.865C>T (p.Gln289Ter)	ATP7B	Pathogenic/Likely pathogenic	13	52548491	52548491	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA252900,OMIM:606882.0022
Deletion	NM_000053.4(ATP7B):c.845del (p.Leu282fs)	ATP7B	Pathogenic	13	52548511	52548511	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA260157
single nucleotide variant	NM_000053.4(ATP7B):c.841C>T (p.Gln281Ter)	ATP7B	Likely pathogenic	13	52548515	52548515	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000053.4(ATP7B):c.813C>A (p.Cys271Ter)	ATP7B	Pathogenic	13	52548543	52548543	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA274145
Deletion	NM_000053.4(ATP7B):c.802_808del (p.Cys268fs)	ATP7B	Pathogenic	13	52548548	52548554	GACTTACA	G	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000053.4(ATP7B):c.778dup (p.Gln260fs)	ATP7B	Pathogenic/Likely pathogenic	13	52548577	52548578	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA274157
Duplication	NM_000053.4(ATP7B):c.738dup (p.Glu247Ter)	ATP7B	Likely pathogenic	13	52548617	52548618	C	CA	criteria provided, single submitter	-