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.3247C>T (p.Leu1083Phe)	ATP7B	Pathogenic/Likely pathogenic	13	52516687	52516687	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA388029024
single nucleotide variant	NM_000053.4(ATP7B):c.1708-5T>G	ATP7B	Pathogenic/Likely pathogenic	13	52539174	52539174	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA6989243
Deletion	NM_000053.4(ATP7B):c.1145_1151del (p.Ser382fs)	ATP7B	Pathogenic/Likely pathogenic	13	52548205	52548211	CAGTTGGG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA484024617
Deletion	NM_000053.4(ATP7B):c.3449del (p.Asn1150fs)	ATP7B	Pathogenic/Likely pathogenic	13	52515324	52515324	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658798148
Indel	NM_000053.4(ATP7B):c.3912_3913delinsTT (p.Leu1304Phe)	ATP7B	Likely pathogenic	13	52511520	52511521	GC	AA	criteria provided, single submitter	ClinGen:CA658798147
Indel	NM_000053.4(ATP7B):c.2478_2479delinsT (p.Gln826fs)	ATP7B	Pathogenic	13	52524504	52524505	GC	A	criteria provided, single submitter	ClinGen:CA658798149
single nucleotide variant	NM_000053.4(ATP7B):c.1924G>T (p.Asp642Tyr)	ATP7B	Pathogenic/Likely pathogenic	13	52535995	52535995	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA388027513
single nucleotide variant	NM_000053.4(ATP7B):c.4022-2A>C	ATP7B	Likely pathogenic	13	52509833	52509833	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_000053.4(ATP7B):c.3722C>T (p.Ala1241Val)	ATP7B	Pathogenic/Likely pathogenic	13	52511793	52511793	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000053.4(ATP7B):c.3700-1G>A	ATP7B	Likely pathogenic	13	52511816	52511816	C	T	criteria provided, multiple submitters, no conflicts	-