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
Duplication	NM_000053.4(ATP7B):c.3552dup (p.Asp1185Ter)	ATP7B	Likely pathogenic	13	52515220	52515221	C	CA	criteria provided, single submitter	OMIM:606882.0005,ClinGen:CA274387
Deletion	NM_000053.4(ATP7B):c.2035del (p.His679fs)	ATP7B	Likely pathogenic	13	52534370	52534370	TG	T	criteria provided, single submitter	ClinGen:CA274483
single nucleotide variant	NM_000053.4(ATP7B):c.1285+2T>A	ATP7B	Likely pathogenic	13	52548069	52548069	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA274399
single nucleotide variant	NM_000053.4(ATP7B):c.254G>T (p.Gly85Val)	ATP7B	Likely pathogenic	13	52549102	52549102	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA274300,UniProtKB:P35670#VAR_000703
Deletion	NM_000053.4(ATP7B):c.4242del (p.Arg1415fs)	ATP7B	Likely pathogenic	13	52509048	52509048	TG	T	criteria provided, single submitter	ClinGen:CA16041659
Deletion	NM_000053.4(ATP7B):c.3948del (p.Thr1317fs)	ATP7B	Likely pathogenic	13	52511485	52511485	TC	T	criteria provided, single submitter	ClinGen:CA16041661
Deletion	NM_000053.4(ATP7B):c.3942_3943del (p.Lys1315fs)	ATP7B	Likely pathogenic	13	52511490	52511491	TTG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041662
Deletion	NM_000053.4(ATP7B):c.3800del (p.Asp1267fs)	ATP7B	Likely pathogenic	13	52511715	52511715	AT	A	criteria provided, single submitter	ClinGen:CA16041664
single nucleotide variant	NM_000053.4(ATP7B):c.3317T>A (p.Val1106Asp)	ATP7B	Likely pathogenic	13	52516617	52516617	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA6988740
single nucleotide variant	NM_000053.4(ATP7B):c.2730+1G>A	ATP7B	Likely pathogenic	13	52524142	52524142	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041669