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.1063C>T (p.Gln355Ter)	ATP7B	Pathogenic/Likely pathogenic	13	52548293	52548293	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000053.4(ATP7B):c.994G>T (p.Glu332Ter)	ATP7B	Pathogenic	13	52548362	52548362	C	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000053.4(ATP7B):c.111dup (p.Ala38fs)	ATP7B	Pathogenic	13	52549244	52549245	C	CA	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000053.4(ATP7B):c.4283dup (p.Ser1429fs)	ATP7B	Pathogenic/Likely pathogenic	13	52509006	52509007	C	CA	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000053.4(ATP7B):c.4006del (p.Ile1336fs)	ATP7B	Pathogenic	13	52511427	52511427	AT	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000053.4(ATP7B):c.3800A>C (p.Asp1267Ala)	ATP7B	Likely pathogenic	13	52511715	52511715	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_000053.4(ATP7B):c.3436G>A (p.Val1146Met)	ATP7B	Likely pathogenic	13	52515337	52515337	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000053.4(ATP7B):c.3190G>A (p.Glu1064Lys)	ATP7B	Pathogenic/Likely pathogenic	13	52518298	52518298	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000053.4(ATP7B):c.3128T>C (p.Leu1043Pro)	ATP7B	Likely pathogenic	13	52518360	52518360	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000053.4(ATP7B):c.3086C>T (p.Thr1029Ile)	ATP7B	Pathogenic/Likely pathogenic	13	52518402	52518402	G	A	criteria provided, multiple submitters, no conflicts	-