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.1340_1343del (p.Gln447fs)	ATP7B	Pathogenic/Likely pathogenic	13	52544828	52544831	AGTTT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041679
Insertion	NM_000053.4(ATP7B):c.1337_1338insTT (p.Gln447fs)	ATP7B	Likely pathogenic	13	52544833	52544834	C	CAA	criteria provided, single submitter	ClinGen:CA16041680
Duplication	NM_000053.4(ATP7B):c.525dup (p.Val176fs)	ATP7B	Pathogenic	13	52548830	52548831	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA6989546
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
Duplication	NM_000053.4(ATP7B):c.174dup (p.Thr59fs)	ATP7B	Pathogenic/Likely pathogenic	13	52549181	52549182	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041682
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.2570T>C (p.Ile857Thr)	ATP7B	Pathogenic/Likely pathogenic	13	52524413	52524413	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16606473
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