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.3244-2A>G	ATP7B	Pathogenic/Likely pathogenic	13	52516692	52516692	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA274176
single nucleotide variant	NM_000053.4(ATP7B):c.3053C>T (p.Ala1018Val)	ATP7B	Pathogenic/Likely pathogenic	13	52520427	52520427	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA273886,UniProtKB:P35670#VAR_000752
single nucleotide variant	NM_000053.4(ATP7B):c.3008C>T (p.Ala1003Val)	ATP7B	Pathogenic/Likely pathogenic	13	52520472	52520472	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA273949,UniProtKB:P35670#VAR_009013
single nucleotide variant	NM_000053.4(ATP7B):c.3007G>A (p.Ala1003Thr)	ATP7B	Pathogenic/Likely pathogenic	13	52520473	52520473	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA273980,UniProtKB:P35670#VAR_000751
single nucleotide variant	NM_000053.4(ATP7B):c.2975C>T (p.Pro992Leu)	ATP7B	Pathogenic/Likely pathogenic	13	52520505	52520505	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA274013,UniProtKB:P35670#VAR_000749
single nucleotide variant	NM_000053.4(ATP7B):c.2828G>A (p.Gly943Asp)	ATP7B	Pathogenic/Likely pathogenic	13	52523835	52523835	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA274329,UniProtKB:P35670#VAR_000744
single nucleotide variant	NM_000053.4(ATP7B):c.2804C>T (p.Thr935Met)	ATP7B	Pathogenic/Likely pathogenic	13	52523859	52523859	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA273878,UniProtKB:P35670#VAR_000743
single nucleotide variant	NM_000053.4(ATP7B):c.2731-2A>G	ATP7B	Pathogenic/Likely pathogenic	13	52523934	52523934	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA273891
single nucleotide variant	NM_000053.4(ATP7B):c.2575+1G>C	ATP7B	Pathogenic/Likely pathogenic	13	52524407	52524407	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA273907
Deletion	NM_000053.4(ATP7B):c.2532del (p.Val845fs)	ATP7B	Pathogenic	13	52524451	52524451	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA274077