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
Deletion	NM_000053.4(ATP7B):c.3649_3654del (p.Val1217_Leu1218del)	ATP7B	Pathogenic/Likely pathogenic	13	52513232	52513237	TCAGAAC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA274259
single nucleotide variant	NM_000053.4(ATP7B):c.3646G>A (p.Val1216Met)	ATP7B	Pathogenic/Likely pathogenic	13	52513240	52513240	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA274052,UniProtKB:P35670#VAR_000776
single nucleotide variant	NM_000053.4(ATP7B):c.3598C>T (p.Gln1200Ter)	ATP7B	Pathogenic/Likely pathogenic	13	52513288	52513288	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA274326
single nucleotide variant	NM_000053.4(ATP7B):c.3556+1G>A	ATP7B	Pathogenic	13	52515216	52515216	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA274325
single nucleotide variant	NM_000053.4(ATP7B):c.3556G>A (p.Gly1186Ser)	ATP7B	Pathogenic/Likely pathogenic	13	52515217	52515217	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA274098
Duplication	NM_000053.4(ATP7B):c.3552dup (p.Asp1185Ter)	ATP7B	Likely pathogenic	13	52515220	52515221	C	CA	criteria provided, single submitter	OMIM:606882.0005,ClinGen:CA274387
single nucleotide variant	NM_000053.4(ATP7B):c.3517G>A (p.Glu1173Lys)	ATP7B	Pathogenic/Likely pathogenic	13	52515256	52515256	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA274321,UniProtKB:P35670#VAR_009024
single nucleotide variant	NM_000053.4(ATP7B):c.3451C>T (p.Arg1151Cys)	ATP7B	Pathogenic/Likely pathogenic	13	52515322	52515322	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA274020,UniProtKB:P35670#VAR_075338
single nucleotide variant	NM_000053.4(ATP7B):c.3301G>A (p.Gly1101Arg)	ATP7B	Pathogenic/Likely pathogenic	13	52516633	52516633	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA273987,UniProtKB:P35670#VAR_000762
single nucleotide variant	NM_000053.4(ATP7B):c.3263T>A (p.Leu1088Ter)	ATP7B	Pathogenic/Likely pathogenic	13	52516671	52516671	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA274082