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.3207C>A (p.His1069Gln)	ATP7B	Pathogenic	13	52518281	52518281	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA220309,UniProtKB:P35670#VAR_000758,OMIM:606882.0002,OMIM:606882.0006
single nucleotide variant	NM_000053.4(ATP7B):c.3796G>A (p.Gly1266Arg)	ATP7B	Pathogenic/Likely pathogenic	13	52511719	52511719	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA252890,UniProtKB:P35670#VAR_009028,OMIM:606882.0007
single nucleotide variant	NM_000053.4(ATP7B):c.1708-1G>C	ATP7B	Pathogenic	13	52539170	52539170	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA252891,OMIM:606882.0008
single nucleotide variant	NM_000053.4(ATP7B):c.2333G>T (p.Arg778Leu)	ATP7B	Pathogenic	13	52532469	52532469	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA340126,UniProtKB:P35670#VAR_000728,OMIM:606882.0009
single nucleotide variant	NM_000053.4(ATP7B):c.2293G>A (p.Asp765Asn)	ATP7B	Pathogenic	13	52532509	52532509	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA252893,UniProtKB:P35670#VAR_000724,OMIM:606882.0012
single nucleotide variant	NM_000053.4(ATP7B):c.2827G>A (p.Gly943Ser)	ATP7B	Pathogenic	13	52523836	52523836	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA252894,UniProtKB:P35670#VAR_000745,OMIM:606882.0013
single nucleotide variant	NM_000053.4(ATP7B):c.2755C>G (p.Arg919Gly)	ATP7B	Pathogenic	13	52523908	52523908	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA252895,UniProtKB:P35670#VAR_000739,OMIM:606882.0014
single nucleotide variant	NM_000053.4(ATP7B):c.3809A>G (p.Asn1270Ser)	ATP7B	Pathogenic	13	52511706	52511706	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA252896,UniProtKB:P35670#VAR_000783,OMIM:606882.0003,OMIM:606882.0017,ClinVar:424765,ClinVar:437912
single nucleotide variant	NM_000053.4(ATP7B):c.2906G>A (p.Arg969Gln)	ATP7B	Pathogenic	13	52520574	52520574	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA252897,UniProtKB:P35670#VAR_000747,OMIM:606882.0018
single nucleotide variant	NM_000053.4(ATP7B):c.2297C>G (p.Thr766Arg)	ATP7B	Pathogenic/Likely pathogenic	13	52532505	52532505	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA252898,UniProtKB:P35670#VAR_044464,OMIM:606882.0019