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.2519C>T (p.Pro840Leu)	ATP7B	Pathogenic	13	52524464	52524464	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA274072,UniProtKB:P35670#VAR_000733
Deletion	NM_000053.4(ATP7B):c.2513del (p.Lys838fs)	ATP7B	Pathogenic/Likely pathogenic	13	52524470	52524470	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA273896,OMIM:606882.0015
single nucleotide variant	NM_000053.4(ATP7B):c.2383C>T (p.Leu795Phe)	ATP7B	Pathogenic/Likely pathogenic	13	52531716	52531716	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA273992,UniProtKB:P35670#VAR_000731
Deletion	NM_000053.4(ATP7B):c.2035del (p.His679fs)	ATP7B	Likely pathogenic	13	52534370	52534370	TG	T	criteria provided, single submitter	ClinGen:CA274483
Deletion	NM_000053.4(ATP7B):c.2009_2015del (p.Ile669_Tyr670insTer)	ATP7B	Pathogenic	13	52534390	52534396	CAGCATAT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA274055,OMIM:606882.0001
single nucleotide variant	NM_000053.4(ATP7B):c.1924G>C (p.Asp642His)	ATP7B	Pathogenic/Likely pathogenic	13	52535995	52535995	C	G	criteria provided, multiple submitters, no conflicts	ClinVar:437912,ClinGen:CA274388,UniProtKB:P35670#VAR_000713
Deletion	NM_000053.4(ATP7B):c.1782del (p.Thr593_Tyr594insTer)	ATP7B	Pathogenic/Likely pathogenic	13	52539095	52539095	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA274368
Deletion	NM_000053.4(ATP7B):c.1745_1746del (p.Ile582fs)	ATP7B	Pathogenic/Likely pathogenic	13	52539131	52539132	CTA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA274391
single nucleotide variant	NM_000053.4(ATP7B):c.1285+2T>A	ATP7B	Likely pathogenic	13	52548069	52548069	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA274399
single nucleotide variant	NM_000053.4(ATP7B):c.813C>A (p.Cys271Ter)	ATP7B	Pathogenic	13	52548543	52548543	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA274145