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.3086C>T (p.Thr1029Ile)	ATP7B	Pathogenic/Likely pathogenic	13	52518402	52518402	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000053.4(ATP7B):c.3190G>A (p.Glu1064Lys)	ATP7B	Pathogenic/Likely pathogenic	13	52518298	52518298	C	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000053.4(ATP7B):c.4283dup (p.Ser1429fs)	ATP7B	Pathogenic/Likely pathogenic	13	52509006	52509007	C	CA	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000053.4(ATP7B):c.1063C>T (p.Gln355Ter)	ATP7B	Pathogenic/Likely pathogenic	13	52548293	52548293	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000053.4(ATP7B):c.1639C>T (p.Gln547Ter)	ATP7B	Pathogenic/Likely pathogenic	13	52542648	52542648	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000053.4(ATP7B):c.2575+1G>A	ATP7B	Pathogenic/Likely pathogenic	13	52524407	52524407	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000053.4(ATP7B):c.2826_2832del (p.Gly943fs)	ATP7B	Pathogenic/Likely pathogenic	13	52523831	52523837	TAAAACCG	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000053.4(ATP7B):c.2998G>A (p.Gly1000Arg)	ATP7B	Pathogenic/Likely pathogenic	13	52520482	52520482	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000053.4(ATP7B):c.3818C>A (p.Pro1273Gln)	ATP7B	Pathogenic/Likely pathogenic	13	52511697	52511697	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000053.4(ATP7B):c.562C>T (p.Gln188Ter)	ATP7B	Pathogenic/Likely pathogenic	13	52548794	52548794	G	A	criteria provided, multiple submitters, no conflicts	-