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.1543+1G>T	ATP7B	Pathogenic	13	52544627	52544627	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000053.4(ATP7B):c.1544-2A>C	ATP7B	Likely pathogenic	13	52542745	52542745	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_000053.4(ATP7B):c.1568T>A (p.Leu523Ter)	ATP7B	Likely pathogenic	13	52542719	52542719	A	T	criteria provided, single submitter	-
Duplication	NM_000053.4(ATP7B):c.1605_1609dup (p.Ile537fs)	ATP7B	Pathogenic	13	52542677	52542678	A	ATGACC	criteria provided, single submitter	ClinGen:CA10605278
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	-
Deletion	NM_000053.4(ATP7B):c.1700_1707+16del	ATP7B	Likely pathogenic	13	52542564	52542587	GCACCCACAGTACTTACTGTCAGCT	G	criteria provided, single submitter	-
single nucleotide variant	NM_000053.4(ATP7B):c.1708-5T>G	ATP7B	Pathogenic/Likely pathogenic	13	52539174	52539174	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA6989243
single nucleotide variant	NM_000053.4(ATP7B):c.1708-2A>G	ATP7B	Likely pathogenic	13	52539171	52539171	T	C	criteria provided, single submitter	ClinGen:CA16041676
single nucleotide variant	NM_000053.4(ATP7B):c.1708-1G>A	ATP7B	Pathogenic	13	52539170	52539170	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041675
single nucleotide variant	NM_000053.4(ATP7B):c.1708-1G>C	ATP7B	Pathogenic	13	52539170	52539170	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA252891,OMIM:606882.0008