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.3884C>T (p.Ala1295Val)	ATP7B	Pathogenic/Likely pathogenic	13	52511631	52511631	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000053.4(ATP7B):c.4022G>A (p.Gly1341Asp)	ATP7B	Pathogenic/Likely pathogenic	13	52509831	52509831	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000053.4(ATP7B):c.802_808del (p.Cys268fs)	ATP7B	Pathogenic	13	52548548	52548554	GACTTACA	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000053.4(ATP7B):c.970A>T (p.Lys324Ter)	ATP7B	Pathogenic/Likely pathogenic	13	52548386	52548386	T	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000053.4(ATP7B):c.1531C>T (p.Gln511Ter)	ATP7B	Pathogenic	13	52544640	52544640	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000053.4(ATP7B):c.2297C>T (p.Thr766Met)	ATP7B	Pathogenic/Likely pathogenic	13	52532505	52532505	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000053.4(ATP7B):c.2795C>A (p.Ser932Ter)	ATP7B	Pathogenic	13	52523868	52523868	G	T	criteria provided, multiple submitters, no conflicts	-
Indel	NM_000053.4(ATP7B):c.3083_3085delinsG (p.Lys1028fs)	ATP7B	Pathogenic	13	52518403	52518405	TCT	C	criteria provided, multiple submitters, no conflicts	-
Indel	NM_000053.4(ATP7B):c.3298_3300delinsAGTGCCAGGCAGTGCCA (p.Cys1100fs)	ATP7B	Likely pathogenic	13	52516634	52516636	ACA	TGGCACTGCCTGGCACT	criteria provided, single submitter	-
Insertion	NM_000053.4(ATP7B):c.3301_3302insCCAGGCAGTGCCAG (p.Gly1101fs)	ATP7B	Likely pathogenic	13	52516632	52516633	C	CCTGGCACTGCCTGG	criteria provided, single submitter	-