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.650T>G (p.Leu217Ter)	ATP7B	Likely pathogenic	13	52548706	52548706	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_000053.4(ATP7B):c.562C>T (p.Gln188Ter)	ATP7B	Pathogenic/Likely pathogenic	13	52548794	52548794	G	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000053.4(ATP7B):c.525dup (p.Val176fs)	ATP7B	Pathogenic	13	52548830	52548831	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA6989546
Deletion	NM_000053.4(ATP7B):c.524_525del (p.Lys175fs)	ATP7B	Pathogenic/Likely pathogenic	13	52548831	52548832	CTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA274227
Duplication	NM_000053.4(ATP7B):c.388_389dup (p.Ala131fs)	ATP7B	Pathogenic/Likely pathogenic	13	52548966	52548967	T	TGC	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041681
Deletion	NM_000053.4(ATP7B):c.383del (p.Gly128fs)	ATP7B	Pathogenic	13	52548973	52548973	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA275984
single nucleotide variant	NM_000053.4(ATP7B):c.331C>T (p.Gln111Ter)	ATP7B	Pathogenic/Likely pathogenic	13	52549025	52549025	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA274096
single nucleotide variant	NM_000053.4(ATP7B):c.314C>A (p.Ser105Ter)	ATP7B	Pathogenic/Likely pathogenic	13	52549042	52549042	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA274484
single nucleotide variant	NM_000053.4(ATP7B):c.254G>T (p.Gly85Val)	ATP7B	Likely pathogenic	13	52549102	52549102	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA274300,UniProtKB:P35670#VAR_000703
Deletion	NM_000053.4(ATP7B):c.213_214del (p.Val73fs)	ATP7B	Pathogenic	13	52549142	52549143	CAT	C	criteria provided, multiple submitters, no conflicts	-