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.3694A>C (p.Thr1232Pro)	ATP7B	Pathogenic/Likely pathogenic	13	52513192	52513192	T	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000053.4(ATP7B):c.3506T>C (p.Met1169Thr)	ATP7B	Likely pathogenic	13	52515267	52515267	A	G	criteria provided, single submitter	-
Deletion	NM_000053.4(ATP7B):c.3147del (p.Thr1050fs)	ATP7B	Pathogenic	13	52518341	52518341	TG	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000053.4(ATP7B):c.2939G>A (p.Cys980Tyr)	ATP7B	Pathogenic/Likely pathogenic	13	52520541	52520541	C	T	criteria provided, multiple submitters, no conflicts	-
Indel	NM_000053.4(ATP7B):c.2438_2440delinsAT (p.Leu813fs)	ATP7B	Pathogenic/Likely pathogenic	13	52531659	52531661	TTA	AT	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000053.4(ATP7B):c.2356-1G>A	ATP7B	Likely pathogenic	13	52531744	52531744	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000053.4(ATP7B):c.2335T>G (p.Trp779Gly)	ATP7B	Pathogenic/Likely pathogenic	13	52532467	52532467	A	C	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000053.4(ATP7B):c.2222dup (p.Tyr741Ter)	ATP7B	Likely pathogenic	13	52532579	52532580	A	AT	criteria provided, single submitter	-
Deletion	NM_000053.4(ATP7B):c.2097_2100del (p.Phe699fs)	ATP7B	Pathogenic/Likely pathogenic	13	52534305	52534308	TAAAG	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000053.4(ATP7B):c.2000T>A (p.Leu667Ter)	ATP7B	Likely pathogenic	13	52534405	52534405	A	T	criteria provided, single submitter	-