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.1847G>A (p.Arg616Gln)	ATP7B	Pathogenic	13	52539030	52539030	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000053.4(ATP7B):c.2038C>T (p.Gln680Ter)	ATP7B	Likely pathogenic	13	52534367	52534367	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000053.4(ATP7B):c.2121+3A>G	ATP7B	Pathogenic/Likely pathogenic	13	52534281	52534281	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000053.4(ATP7B):c.2122-1G>A	ATP7B	Pathogenic/Likely pathogenic	13	52532681	52532681	C	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000053.4(ATP7B):c.2217dup (p.Ala740fs)	ATP7B	Likely pathogenic	13	52532584	52532585	C	CA	criteria provided, single submitter	-
single nucleotide variant	NM_000053.4(ATP7B):c.2576-2A>G	ATP7B	Likely pathogenic	13	52524299	52524299	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_000053.4(ATP7B):c.3061-12T>A	ATP7B	Pathogenic/Likely pathogenic	13	52518439	52518439	A	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000053.4(ATP7B):c.3086C>T (p.Thr1029Ile)	ATP7B	Pathogenic/Likely pathogenic	13	52518402	52518402	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000053.4(ATP7B):c.3128T>C (p.Leu1043Pro)	ATP7B	Likely pathogenic	13	52518360	52518360	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000053.4(ATP7B):c.3190G>A (p.Glu1064Lys)	ATP7B	Pathogenic/Likely pathogenic	13	52518298	52518298	C	T	criteria provided, multiple submitters, no conflicts	-