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
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
Deletion	NM_000053.4(ATP7B):c.524_525del (p.Lys175fs)	ATP7B	Pathogenic/Likely pathogenic	13	52548831	52548832	CTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA274227
single nucleotide variant	NM_000053.4(ATP7B):c.331C>T (p.Gln111Ter)	ATP7B	Pathogenic/Likely pathogenic	13	52549025	52549025	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA274096
single nucleotide variant	NM_000053.4(ATP7B):c.314C>A (p.Ser105Ter)	ATP7B	Pathogenic/Likely pathogenic	13	52549042	52549042	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA274484
single nucleotide variant	NM_000053.4(ATP7B):c.254G>T (p.Gly85Val)	ATP7B	Likely pathogenic	13	52549102	52549102	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA274300,UniProtKB:P35670#VAR_000703
Deletion	NM_000053.4(ATP7B):c.383del (p.Gly128fs)	ATP7B	Pathogenic	13	52548973	52548973	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA275984
Duplication	NM_000053.4(ATP7B):c.2165dup (p.Arg723fs)	ATP7B	Pathogenic/Likely pathogenic	13	52532636	52532637	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA277321
single nucleotide variant	NM_000053.4(ATP7B):c.1772G>A (p.Gly591Asp)	ATP7B	Pathogenic/Likely pathogenic	13	52539105	52539105	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA277133,UniProtKB:P35670#VAR_044456
single nucleotide variant	NM_000053.4(ATP7B):c.2149C>T (p.Gln717Ter)	ATP7B	Pathogenic	13	52532653	52532653	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA388023272
Deletion	NM_000053.4(ATP7B):c.4195del (p.Gln1399fs)	ATP7B	Pathogenic/Likely pathogenic	13	52509095	52509095	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603190