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.2998G>A (p.Gly1000Arg)	ATP7B	Pathogenic/Likely pathogenic	13	52520482	52520482	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.2743C>T (p.Gln915Ter)	ATP7B	Likely pathogenic	13	52523920	52523920	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000053.4(ATP7B):c.2620G>C (p.Ala874Pro)	ATP7B	Likely pathogenic	13	52524253	52524253	C	G	criteria provided, single submitter	-
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	-
single nucleotide variant	NM_000053.4(ATP7B):c.2447+2T>G	ATP7B	Likely pathogenic	13	52531650	52531650	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_000053.4(ATP7B):c.2428G>T (p.Glu810Ter)	ATP7B	Likely pathogenic	13	52531671	52531671	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000053.4(ATP7B):c.2333G>A (p.Arg778Gln)	ATP7B	Pathogenic	13	52532469	52532469	C	T	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.1568T>A (p.Leu523Ter)	ATP7B	Likely pathogenic	13	52542719	52542719	A	T	criteria provided, single submitter	-