ウィルソン病 - MGenReviews

ウィルソン病

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.331C>T (p.Gln111Ter)	ATP7B	Pathogenic/Likely pathogenic	13	52549025	52549025	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA274096
Deletion	NM_000053.4(ATP7B):c.383del (p.Gly128fs)	ATP7B	Pathogenic	13	52548973	52548973	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA275984
Duplication	NM_000053.4(ATP7B):c.388_389dup (p.Ala131fs)	ATP7B	Pathogenic/Likely pathogenic	13	52548966	52548967	T	TGC	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041681
Deletion	NM_000053.4(ATP7B):c.524_525del (p.Lys175fs)	ATP7B	Pathogenic/Likely pathogenic	13	52548831	52548832	CTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA274227
Duplication	NM_000053.4(ATP7B):c.525dup (p.Val176fs)	ATP7B	Pathogenic	13	52548830	52548831	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA6989546
single nucleotide variant	NM_000053.4(ATP7B):c.562C>T (p.Gln188Ter)	ATP7B	Pathogenic/Likely pathogenic	13	52548794	52548794	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000053.4(ATP7B):c.650T>G (p.Leu217Ter)	ATP7B	Likely pathogenic	13	52548706	52548706	A	C	criteria provided, single submitter	-
Duplication	NM_000053.4(ATP7B):c.738dup (p.Glu247Ter)	ATP7B	Likely pathogenic	13	52548617	52548618	C	CA	criteria provided, single submitter	-
Duplication	NM_000053.4(ATP7B):c.778dup (p.Gln260fs)	ATP7B	Pathogenic/Likely pathogenic	13	52548577	52548578	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA274157
Deletion	NM_000053.4(ATP7B):c.802_808del (p.Cys268fs)	ATP7B	Pathogenic	13	52548548	52548554	GACTTACA	G	criteria provided, multiple submitters, no conflicts	-