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
Deletion	NM_000053.4(ATP7B):c.2447+1del	ATP7B	Likely pathogenic	13	52531651	52531651	AC	A	criteria provided, single submitter	ClinGen:CA16041670
Duplication	NM_000053.4(ATP7B):c.1820dup (p.Phe608fs)	ATP7B	Likely pathogenic	13	52539056	52539057	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041673
single nucleotide variant	NM_000053.4(ATP7B):c.1708-2A>G	ATP7B	Likely pathogenic	13	52539171	52539171	T	C	criteria provided, single submitter	ClinGen:CA16041676
Insertion	NM_000053.4(ATP7B):c.1337_1338insTT (p.Gln447fs)	ATP7B	Likely pathogenic	13	52544833	52544834	C	CAA	criteria provided, single submitter	ClinGen:CA16041680
single nucleotide variant	NM_000053.4(ATP7B):c.103A>T (p.Lys35Ter)	ATP7B	Likely pathogenic	13	52549253	52549253	T	A	criteria provided, single submitter	ClinGen:CA16041683
single nucleotide variant	NM_000053.4(ATP7B):c.52-1G>T	ATP7B	Likely pathogenic	13	52549305	52549305	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041684
single nucleotide variant	NM_000053.4(ATP7B):c.2963G>A (p.Gly988Glu)	ATP7B	Likely pathogenic	13	52520517	52520517	C	T	criteria provided, single submitter	ClinGen:CA16043475
single nucleotide variant	NM_000053.4(ATP7B):c.2905C>T (p.Arg969Trp)	ATP7B	Likely pathogenic	13	52520575	52520575	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA6988868
Deletion	NM_000053.4(ATP7B):c.2901del (p.Ile968fs)	ATP7B	Likely pathogenic	13	52520579	52520579	TG	T	criteria provided, single submitter	ClinGen:CA16619814
Indel	NM_000053.4(ATP7B):c.3912_3913delinsTT (p.Leu1304Phe)	ATP7B	Likely pathogenic	13	52511520	52511521	GC	AA	criteria provided, single submitter	ClinGen:CA658798147