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.2300C>T (p.Pro767Leu)	ATP7B	Pathogenic/Likely pathogenic	13	52532502	52532502	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000053.4(ATP7B):c.2145del (p.Phe714_Tyr715insTer)	ATP7B	Pathogenic	13	52532657	52532657	CG	C	criteria provided, single submitter	-
Deletion	NM_000053.4(ATP7B):c.1158_1159del (p.Val387fs)	ATP7B	Pathogenic	13	52548197	52548198	ACC	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000053.4(ATP7B):c.213_214del (p.Val73fs)	ATP7B	Pathogenic	13	52549142	52549143	CAT	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000013.11:g.(?_51944089)_(51946498_?)del	ATP7B	Pathogenic	13	52518225	52520634	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000053.4(ATP7B):c.3243+2T>C	ATP7B	Likely pathogenic	13	52518243	52518243	A	G	criteria provided, single submitter	-
Deletion	NC_000013.11:g.(?_51937256)_(51939213_?)del	ATP7B	Likely pathogenic	13	52511392	52513349	na	na	criteria provided, single submitter	-