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.2901del (p.Ile968fs)	ATP7B	Likely pathogenic	13	52520579	52520579	TG	T	criteria provided, single submitter	ClinGen:CA16619814
single nucleotide variant	NM_000053.4(ATP7B):c.3236G>T (p.Cys1079Phe)	ATP7B	Pathogenic/Likely pathogenic	13	52518252	52518252	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621524
single nucleotide variant	NM_000053.4(ATP7B):c.3305T>C (p.Ile1102Thr)	ATP7B	Pathogenic	13	52516629	52516629	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA6988743
single nucleotide variant	NM_000053.4(ATP7B):c.2332C>T (p.Arg778Trp)	ATP7B	Pathogenic	13	52532470	52532470	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA6989058
single nucleotide variant	NM_000053.4(ATP7B):c.3284A>C (p.Gln1095Pro)	ATP7B	Pathogenic/Likely pathogenic	13	52516650	52516650	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA388028728
Duplication	NM_000053.4(ATP7B):c.2304dup (p.Met769fs)	ATP7B	Pathogenic	13	52532497	52532498	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA270732
single nucleotide variant	NM_000053.4(ATP7B):c.3556+1G>T	ATP7B	Pathogenic/Likely pathogenic	13	52515216	52515216	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA388025828
single nucleotide variant	NM_000053.4(ATP7B):c.2294A>G (p.Asp765Gly)	ATP7B	Pathogenic/Likely pathogenic	13	52532508	52532508	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA388021872
Duplication	NM_000053.4(ATP7B):c.3036dup (p.Lys1013fs)	ATP7B	Pathogenic/Likely pathogenic	13	52520443	52520444	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683874
single nucleotide variant	NM_000053.4(ATP7B):c.2131G>A (p.Gly711Arg)	ATP7B	Pathogenic/Likely pathogenic	13	52532671	52532671	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA388023479