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
Deletion	NM_000053.4(ATP7B):c.2447+1del	ATP7B	Likely pathogenic	13	52531651	52531651	AC	A	criteria provided, single submitter	ClinGen:CA16041670
single nucleotide variant	NM_000053.4(ATP7B):c.2303C>T (p.Pro768Leu)	ATP7B	Pathogenic/Likely pathogenic	13	52532499	52532499	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041671
single nucleotide variant	NM_000053.4(ATP7B):c.2157C>A (p.Tyr719Ter)	ATP7B	Pathogenic/Likely pathogenic	13	52532645	52532645	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041672
Duplication	NM_000053.4(ATP7B):c.1820dup (p.Phe608fs)	ATP7B	Likely pathogenic	13	52539056	52539057	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041673
Deletion	NM_000053.4(ATP7B):c.1716del (p.Gly572_Met573insTer)	ATP7B	Pathogenic/Likely pathogenic	13	52539161	52539161	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041674
single nucleotide variant	NM_000053.4(ATP7B):c.1708-1G>A	ATP7B	Pathogenic	13	52539170	52539170	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041675
single nucleotide variant	NM_000053.4(ATP7B):c.1708-2A>G	ATP7B	Likely pathogenic	13	52539171	52539171	T	C	criteria provided, single submitter	ClinGen:CA16041676
Duplication	NM_000053.4(ATP7B):c.1512dup (p.Asn505Ter)	ATP7B	Pathogenic/Likely pathogenic	13	52544658	52544659	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041677
single nucleotide variant	NM_000053.4(ATP7B):c.1470C>A (p.Cys490Ter)	ATP7B	Pathogenic/Likely pathogenic	13	52544701	52544701	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA6989342
single nucleotide variant	NM_000053.4(ATP7B):c.1372G>T (p.Glu458Ter)	ATP7B	Pathogenic/Likely pathogenic	13	52544799	52544799	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041678