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.2128G>A (p.Gly710Ser)	ATP7B	Pathogenic	13	52532674	52532674	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA270731,UniProtKB:P35670#VAR_000719
single nucleotide variant	NM_000053.4(ATP7B):c.915T>A (p.Cys305Ter)	ATP7B	Pathogenic	13	52548441	52548441	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA220313
Deletion	NM_000053.4(ATP7B):c.3402del (p.Ala1135fs)	ATP7B	Pathogenic	13	52516532	52516532	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA270737,OMIM:606882.0004
Deletion	NM_000053.4(ATP7B):c.2304del (p.Met769fs)	ATP7B	Pathogenic	13	52532498	52532498	TG	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000053.4(ATP7B):c.845del (p.Leu282fs)	ATP7B	Pathogenic	13	52548511	52548511	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA260157
single nucleotide variant	NM_000053.4(ATP7B):c.4058G>A (p.Trp1353Ter)	ATP7B	Pathogenic/Likely pathogenic	13	52509795	52509795	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA260150
single nucleotide variant	NM_000053.4(ATP7B):c.3955C>T (p.Arg1319Ter)	ATP7B	Pathogenic	13	52511478	52511478	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA260148
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
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.2305A>G (p.Met769Val)	ATP7B	Pathogenic	13	52532497	52532497	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA171300,UniProtKB:P35670#VAR_000725