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.3904-2A>G	ATP7B	Pathogenic	13	52511531	52511531	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041663
Deletion	NM_000053.4(ATP7B):c.3800del (p.Asp1267fs)	ATP7B	Likely pathogenic	13	52511715	52511715	AT	A	criteria provided, single submitter	ClinGen:CA16041664
single nucleotide variant	NM_000053.4(ATP7B):c.3529C>T (p.Gln1177Ter)	ATP7B	Pathogenic/Likely pathogenic	13	52515244	52515244	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041665
single nucleotide variant	NM_000053.4(ATP7B):c.3317T>A (p.Val1106Asp)	ATP7B	Likely pathogenic	13	52516617	52516617	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA6988740
single nucleotide variant	NM_000053.4(ATP7B):c.3295G>A (p.Gly1099Ser)	ATP7B	Pathogenic/Likely pathogenic	13	52516639	52516639	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA6988744
single nucleotide variant	NM_000053.4(ATP7B):c.3191A>C (p.Glu1064Ala)	ATP7B	Pathogenic/Likely pathogenic	13	52518297	52518297	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA6988781
single nucleotide variant	NM_000053.4(ATP7B):c.3104G>T (p.Gly1035Val)	ATP7B	Pathogenic/Likely pathogenic	13	52518384	52518384	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041666
single nucleotide variant	NM_000053.4(ATP7B):c.2817G>T (p.Trp939Cys)	ATP7B	Pathogenic/Likely pathogenic	13	52523846	52523846	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041667
Deletion	NM_000053.4(ATP7B):c.2810del (p.Val937fs)	ATP7B	Pathogenic/Likely pathogenic	13	52523853	52523853	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041668
single nucleotide variant	NM_000053.4(ATP7B):c.2730+1G>A	ATP7B	Likely pathogenic	13	52524142	52524142	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041669