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.1934T>G (p.Met645Arg)	ATP7B	Pathogenic/Likely pathogenic	13	52535985	52535985	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA252899,UniProtKB:P35670#VAR_000714,OMIM:606882.0020
single nucleotide variant	NM_000053.4(ATP7B):c.3443T>C (p.Ile1148Thr)	ATP7B	Pathogenic/Likely pathogenic	13	52515330	52515330	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA259856,ClinVar:3863,UniProtKB:P35670#VAR_000768,OMIM:606882.0021,OMIM:606882.0025
single nucleotide variant	NM_000053.4(ATP7B):c.865C>T (p.Gln289Ter)	ATP7B	Pathogenic/Likely pathogenic	13	52548491	52548491	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA252900,OMIM:606882.0022
single nucleotide variant	NM_000053.4(ATP7B):c.2123T>C (p.Leu708Pro)	ATP7B	Pathogenic	13	52532679	52532679	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA252902,UniProtKB:P35670#VAR_000717,OMIM:606882.0023
single nucleotide variant	NM_000053.4(ATP7B):c.2071G>A (p.Gly691Arg)	ATP7B	Pathogenic/Likely pathogenic	13	52534334	52534334	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA252903,UniProtKB:P35670#VAR_000716,OMIM:606882.0024
single nucleotide variant	NM_000053.4(ATP7B):c.3526G>A (p.Gly1176Arg)	ATP7B	Pathogenic	13	52515247	52515247	C	T	criteria provided, single submitter	UniProtKB:P35670#VAR_010019,OMIM:606882.0021,ClinVar:3863
single nucleotide variant	NM_000053.4(ATP7B):c.2122-8T>G	ATP7B	Pathogenic/Likely pathogenic	13	52532688	52532688	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA260131
single nucleotide variant	NM_000053.4(ATP7B):c.2305A>G (p.Met769Val)	ATP7B	Pathogenic	13	52532497	52532497	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA171300,UniProtKB:P35670#VAR_000725
single nucleotide variant	NM_000053.4(ATP7B):c.2930C>T (p.Thr977Met)	ATP7B	Pathogenic	13	52520550	52520550	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA220308,UniProtKB:P35670#VAR_000748
single nucleotide variant	NM_000053.4(ATP7B):c.3659C>T (p.Thr1220Met)	ATP7B	Pathogenic/Likely pathogenic	13	52513227	52513227	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA260145,UniProtKB:P35670#VAR_000778