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
Deletion	NM_000053.4(ATP7B):c.3664del (p.Asp1222fs)	ATP7B	Pathogenic	13	52513222	52513222	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10604343
Duplication	NM_000053.4(ATP7B):c.1605_1609dup (p.Ile537fs)	ATP7B	Pathogenic	13	52542677	52542678	A	ATGACC	criteria provided, single submitter	ClinGen:CA10605278
Duplication	NM_000053.4(ATP7B):c.3107dup (p.Arg1038fs)	ATP7B	Pathogenic	13	52518380	52518381	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605504
single nucleotide variant	NM_000053.4(ATP7B):c.3121C>T (p.Arg1041Trp)	ATP7B	Pathogenic/Likely pathogenic	13	52518367	52518367	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA6988802,UniProtKB:P35670#VAR_000754
single nucleotide variant	NM_000053.4(ATP7B):c.3182G>A (p.Gly1061Glu)	ATP7B	Pathogenic	13	52518306	52518306	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA6988785,UniProtKB:P35670#VAR_009017
single nucleotide variant	NM_000053.4(ATP7B):c.51+4A>T	ATP7B	Pathogenic/Likely pathogenic	13	52585419	52585419	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA6989708
Deletion	NM_000053.4(ATP7B):c.4242del (p.Arg1415fs)	ATP7B	Likely pathogenic	13	52509048	52509048	TG	T	criteria provided, single submitter	ClinGen:CA16041659
single nucleotide variant	NM_000053.4(ATP7B):c.4114C>T (p.Gln1372Ter)	ATP7B	Pathogenic	13	52509739	52509739	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA6988488
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