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.122A>G (p.Asn41Ser)	ATP7B	Pathogenic/Likely pathogenic	13	52549234	52549234	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA271166,UniProtKB:P35670#VAR_023011
single nucleotide variant	NM_000053.4(ATP7B):c.1877G>C (p.Gly626Ala)	ATP7B	Pathogenic/Likely pathogenic	13	52536042	52536042	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA271167,UniProtKB:P35670#VAR_000712
single nucleotide variant	NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg)	ATP7B	Pathogenic/Likely pathogenic	13	52524268	52524268	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA271172,UniProtKB:P35670#VAR_000736
single nucleotide variant	NM_000053.4(ATP7B):c.2865+1G>A	ATP7B	Pathogenic	13	52523797	52523797	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA271173
single nucleotide variant	NM_000053.4(ATP7B):c.3011A>C (p.Gln1004Pro)	ATP7B	Pathogenic/Likely pathogenic	13	52520469	52520469	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA271174,UniProtKB:P35670#VAR_058929
single nucleotide variant	NM_000053.4(ATP7B):c.4021G>A (p.Gly1341Ser)	ATP7B	Pathogenic/Likely pathogenic	13	52511412	52511412	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA271177
single nucleotide variant	NM_000053.4(ATP7B):c.4088C>T (p.Ser1363Phe)	ATP7B	Pathogenic/Likely pathogenic	13	52509765	52509765	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA274112,UniProtKB:P35670#VAR_009031
single nucleotide variant	NM_000053.4(ATP7B):c.4051C>T (p.Gln1351Ter)	ATP7B	Pathogenic	13	52509802	52509802	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA274170
single nucleotide variant	NM_000053.4(ATP7B):c.3895C>T (p.Leu1299Phe)	ATP7B	Pathogenic/Likely pathogenic	13	52511620	52511620	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA274423
single nucleotide variant	NM_000053.4(ATP7B):c.3818C>T (p.Pro1273Leu)	ATP7B	Pathogenic/Likely pathogenic	13	52511697	52511697	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA274408,UniProtKB:P35670#VAR_000784