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.1544-2A>C	ATP7B	Likely pathogenic	13	52542745	52542745	T	G	criteria provided, single submitter	-
Deletion	NM_001406511.1(ATP7B):c.-55+247_-55+261del	ATP7B	Pathogenic	13	52585895	52585909	TCCGCGGTCTCGGCCA	T	criteria provided, multiple submitters, no conflicts	OMIM:606882.0010
Duplication	NM_000053.4(ATP7B):c.4150dup (p.Tyr1384fs)	ATP7B	Likely pathogenic	13	52509139	52509140	T	TA	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000053.4(ATP7B):c.3784G>T (p.Val1262Phe)	ATP7B	Pathogenic/Likely pathogenic	13	52511731	52511731	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000053.4(ATP7B):c.3662G>A (p.Gly1221Glu)	ATP7B	Likely pathogenic	13	52513224	52513224	C	T	criteria provided, single submitter	-
Deletion	NM_000053.4(ATP7B):c.3350_3353del (p.Glu1117fs)	ATP7B	Pathogenic/Likely pathogenic	13	52516581	52516584	GCGCT	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000053.4(ATP7B):c.3243+1G>A	ATP7B	Likely pathogenic	13	52518244	52518244	C	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000053.4(ATP7B):c.3157dup (p.Leu1053fs)	ATP7B	Likely pathogenic	13	52518330	52518331	A	AG	criteria provided, single submitter	-
single nucleotide variant	NM_000053.4(ATP7B):c.3074T>G (p.Met1025Arg)	ATP7B	Likely pathogenic	13	52518414	52518414	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_000053.4(ATP7B):c.2962G>C (p.Gly988Arg)	ATP7B	Pathogenic/Likely pathogenic	13	52520518	52520518	C	G	criteria provided, multiple submitters, no conflicts	-