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.4021G>A (p.Gly1341Ser)	ATP7B	Pathogenic/Likely pathogenic	13	52511412	52511412	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA271177
Deletion	NM_000053.4(ATP7B):c.4006del (p.Ile1336fs)	ATP7B	Pathogenic	13	52511427	52511427	AT	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000053.4(ATP7B):c.3990_3993del (p.Tyr1331fs)	ATP7B	Pathogenic/Likely pathogenic	13	52511440	52511443	TATAA	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000053.4(ATP7B):c.3955C>T (p.Arg1319Ter)	ATP7B	Pathogenic	13	52511478	52511478	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA260148
Deletion	NM_000053.4(ATP7B):c.3948del (p.Thr1317fs)	ATP7B	Likely pathogenic	13	52511485	52511485	TC	T	criteria provided, single submitter	ClinGen:CA16041661
Deletion	NM_000053.4(ATP7B):c.3942_3943del (p.Lys1315fs)	ATP7B	Likely pathogenic	13	52511490	52511491	TTG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041662
single nucleotide variant	NM_000053.4(ATP7B):c.3914T>C (p.Leu1305Pro)	ATP7B	Pathogenic	13	52511519	52511519	A	G	criteria provided, single submitter	-
Indel	NM_000053.4(ATP7B):c.3912_3913delinsTT (p.Leu1304Phe)	ATP7B	Likely pathogenic	13	52511520	52511521	GC	AA	criteria provided, single submitter	ClinGen:CA658798147
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
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