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.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.1924G>T (p.Asp642Tyr)	ATP7B	Pathogenic/Likely pathogenic	13	52535995	52535995	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA388027513
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
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
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
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.2131G>A (p.Gly711Arg)	ATP7B	Pathogenic/Likely pathogenic	13	52532671	52532671	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA388023479
Duplication	NM_000053.4(ATP7B):c.3036dup (p.Lys1013fs)	ATP7B	Pathogenic/Likely pathogenic	13	52520443	52520444	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683874
single nucleotide variant	NM_000053.4(ATP7B):c.2294A>G (p.Asp765Gly)	ATP7B	Pathogenic/Likely pathogenic	13	52532508	52532508	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA388021872
single nucleotide variant	NM_000053.4(ATP7B):c.3556+1G>T	ATP7B	Pathogenic/Likely pathogenic	13	52515216	52515216	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA388025828