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.3556+1G>T	ATP7B	Pathogenic/Likely pathogenic	13	52515216	52515216	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA388025828
single nucleotide variant	NM_000053.4(ATP7B):c.3556G>A (p.Gly1186Ser)	ATP7B	Pathogenic/Likely pathogenic	13	52515217	52515217	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA274098
Duplication	NM_000053.4(ATP7B):c.3552dup (p.Asp1185Ter)	ATP7B	Likely pathogenic	13	52515220	52515221	C	CA	criteria provided, single submitter	OMIM:606882.0005,ClinGen:CA274387
single nucleotide variant	NM_000053.4(ATP7B):c.3529C>T (p.Gln1177Ter)	ATP7B	Pathogenic/Likely pathogenic	13	52515244	52515244	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041665
single nucleotide variant	NM_000053.4(ATP7B):c.3526G>A (p.Gly1176Arg)	ATP7B	Pathogenic	13	52515247	52515247	C	T	criteria provided, single submitter	UniProtKB:P35670#VAR_010019,OMIM:606882.0021,ClinVar:3863
single nucleotide variant	NM_000053.4(ATP7B):c.3517G>A (p.Glu1173Lys)	ATP7B	Pathogenic/Likely pathogenic	13	52515256	52515256	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA274321,UniProtKB:P35670#VAR_009024
single nucleotide variant	NM_000053.4(ATP7B):c.3506T>C (p.Met1169Thr)	ATP7B	Likely pathogenic	13	52515267	52515267	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000053.4(ATP7B):c.3451C>T (p.Arg1151Cys)	ATP7B	Pathogenic/Likely pathogenic	13	52515322	52515322	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA274020,UniProtKB:P35670#VAR_075338
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
single nucleotide variant	NM_000053.4(ATP7B):c.3443T>C (p.Ile1148Thr)	ATP7B	Pathogenic/Likely pathogenic	13	52515330	52515330	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA259856,ClinVar:3863,UniProtKB:P35670#VAR_000768,OMIM:606882.0021,OMIM:606882.0025