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.3800A>C (p.Asp1267Ala)	ATP7B	Likely pathogenic	13	52511715	52511715	T	G	criteria provided, single submitter	-
Deletion	NM_000053.4(ATP7B):c.3800del (p.Asp1267fs)	ATP7B	Likely pathogenic	13	52511715	52511715	AT	A	criteria provided, single submitter	ClinGen:CA16041664
Deletion	NM_000053.4(ATP7B):c.3809del (p.Asn1270fs)	ATP7B	Likely pathogenic	13	52511706	52511706	AT	A	criteria provided, single submitter	-
single nucleotide variant	NM_000053.4(ATP7B):c.3809A>G (p.Asn1270Ser)	ATP7B	Pathogenic	13	52511706	52511706	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA252896,UniProtKB:P35670#VAR_000783,OMIM:606882.0003,OMIM:606882.0017,ClinVar:424765,ClinVar:437912
single nucleotide variant	NM_000053.4(ATP7B):c.3818C>A (p.Pro1273Gln)	ATP7B	Pathogenic/Likely pathogenic	13	52511697	52511697	G	T	criteria provided, multiple submitters, no conflicts	-
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
single nucleotide variant	NM_000053.4(ATP7B):c.3884C>T (p.Ala1295Val)	ATP7B	Pathogenic/Likely pathogenic	13	52511631	52511631	G	A	criteria provided, multiple submitters, no conflicts	-
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.3904-2A>G	ATP7B	Pathogenic	13	52511531	52511531	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041663
Indel	NM_000053.4(ATP7B):c.3912_3913delinsTT (p.Leu1304Phe)	ATP7B	Likely pathogenic	13	52511520	52511521	GC	AA	criteria provided, single submitter	ClinGen:CA658798147