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.1544-2A>C	ATP7B	Likely pathogenic	13	52542745	52542745	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_000053.4(ATP7B):c.2000T>A (p.Leu667Ter)	ATP7B	Likely pathogenic	13	52534405	52534405	A	T	criteria provided, single submitter	-
Duplication	NM_000053.4(ATP7B):c.2222dup (p.Tyr741Ter)	ATP7B	Likely pathogenic	13	52532579	52532580	A	AT	criteria provided, single submitter	-
single nucleotide variant	NM_000053.4(ATP7B):c.2356-1G>A	ATP7B	Likely pathogenic	13	52531744	52531744	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000053.4(ATP7B):c.3506T>C (p.Met1169Thr)	ATP7B	Likely pathogenic	13	52515267	52515267	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000053.4(ATP7B):c.3700-1G>A	ATP7B	Likely pathogenic	13	52511816	52511816	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000053.4(ATP7B):c.4022-2A>C	ATP7B	Likely pathogenic	13	52509833	52509833	T	G	criteria provided, single submitter	-
Indel	NM_000053.4(ATP7B):c.3912_3913delinsTT (p.Leu1304Phe)	ATP7B	Likely pathogenic	13	52511520	52511521	GC	AA	criteria provided, single submitter	ClinGen:CA658798147
Deletion	NM_000053.4(ATP7B):c.2901del (p.Ile968fs)	ATP7B	Likely pathogenic	13	52520579	52520579	TG	T	criteria provided, single submitter	ClinGen:CA16619814
single nucleotide variant	NM_000053.4(ATP7B):c.2905C>T (p.Arg969Trp)	ATP7B	Likely pathogenic	13	52520575	52520575	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA6988868