ウィルソン病 - MGenReviews

ウィルソン病

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.3700-1G>A	ATP7B	Likely pathogenic	13	52511816	52511816	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000053.4(ATP7B):c.3694A>C (p.Thr1232Pro)	ATP7B	Pathogenic/Likely pathogenic	13	52513192	52513192	T	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000053.4(ATP7B):c.3664del (p.Asp1222fs)	ATP7B	Pathogenic	13	52513222	52513222	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10604343
single nucleotide variant	NM_000053.4(ATP7B):c.3662G>A (p.Gly1221Glu)	ATP7B	Likely pathogenic	13	52513224	52513224	C	T	criteria provided, single submitter	-
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
Deletion	NM_000053.4(ATP7B):c.3649_3654del (p.Val1217_Leu1218del)	ATP7B	Pathogenic/Likely pathogenic	13	52513232	52513237	TCAGAAC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA274259
single nucleotide variant	NM_000053.4(ATP7B):c.3646G>A (p.Val1216Met)	ATP7B	Pathogenic/Likely pathogenic	13	52513240	52513240	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA274052,UniProtKB:P35670#VAR_000776
single nucleotide variant	NM_000053.4(ATP7B):c.3598C>T (p.Gln1200Ter)	ATP7B	Pathogenic/Likely pathogenic	13	52513288	52513288	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA274326
Deletion	NC_000013.11:g.(?_51937256)_(51939213_?)del	ATP7B	Likely pathogenic	13	52511392	52513349	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000053.4(ATP7B):c.3556+1G>A	ATP7B	Pathogenic	13	52515216	52515216	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA274325