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.2549C>T (p.Thr850Ile)	ATP7B	Pathogenic/Likely pathogenic	13	52524434	52524434	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000053.4(ATP7B):c.2356-1G>C	ATP7B	Likely pathogenic	13	52531744	52531744	C	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000053.4(ATP7B):c.2145C>A (p.Tyr715Ter)	ATP7B	Pathogenic	13	52532657	52532657	G	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000053.4(ATP7B):c.1739del (p.His580fs)	ATP7B	Pathogenic/Likely pathogenic	13	52539138	52539138	GT	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000053.4(ATP7B):c.1700_1707+16del	ATP7B	Likely pathogenic	13	52542564	52542587	GCACCCACAGTACTTACTGTCAGCT	G	criteria provided, single submitter	-
Duplication	NM_000053.4(ATP7B):c.1392dup (p.Arg465fs)	ATP7B	Likely pathogenic	13	52544778	52544779	T	TC	criteria provided, single submitter	-
single nucleotide variant	NM_000053.4(ATP7B):c.841C>T (p.Gln281Ter)	ATP7B	Likely pathogenic	13	52548515	52548515	G	A	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	-
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	-
Deletion	NM_000053.4(ATP7B):c.3809del (p.Asn1270fs)	ATP7B	Likely pathogenic	13	52511706	52511706	AT	A	criteria provided, single submitter	-