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_001406511.1(ATP7B):c.-55+247_-55+261del	ATP7B	Pathogenic	13	52585895	52585909	TCCGCGGTCTCGGCCA	T	criteria provided, multiple submitters, no conflicts	OMIM:606882.0010
single nucleotide variant	NM_000053.4(ATP7B):c.51+4A>T	ATP7B	Pathogenic/Likely pathogenic	13	52585419	52585419	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA6989708
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.103A>T (p.Lys35Ter)	ATP7B	Likely pathogenic	13	52549253	52549253	T	A	criteria provided, single submitter	ClinGen:CA16041683
Duplication	NM_000053.4(ATP7B):c.111dup (p.Ala38fs)	ATP7B	Pathogenic	13	52549244	52549245	C	CA	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser)	ATP7B	Pathogenic/Likely pathogenic	13	52549234	52549234	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA271166,UniProtKB:P35670#VAR_023011
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
Deletion	NM_000053.4(ATP7B):c.213_214del (p.Val73fs)	ATP7B	Pathogenic	13	52549142	52549143	CAT	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000053.4(ATP7B):c.254G>T (p.Gly85Val)	ATP7B	Likely pathogenic	13	52549102	52549102	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA274300,UniProtKB:P35670#VAR_000703
single nucleotide variant	NM_000053.4(ATP7B):c.314C>A (p.Ser105Ter)	ATP7B	Pathogenic/Likely pathogenic	13	52549042	52549042	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA274484