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.2866-2A>G	ATP7B	Pathogenic	13	52520616	52520616	T	C	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.1475T>C (p.Leu492Ser)	ATP7B	Likely pathogenic	13	52544696	52544696	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000053.4(ATP7B):c.1543+1G>T	ATP7B	Pathogenic	13	52544627	52544627	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000053.4(ATP7B):c.3914T>C (p.Leu1305Pro)	ATP7B	Pathogenic	13	52511519	52511519	A	G	criteria provided, single submitter	-
Deletion	NM_000053.4(ATP7B):c.1708-25_1719del	ATP7B	Pathogenic	13	52539158	52539194	TCATCCCTGTGATCTGCAACACAGGATGGCAAGAATCC	T	criteria provided, single submitter	-
single nucleotide variant	NM_000053.4(ATP7B):c.2486A>G (p.Asp829Gly)	ATP7B	Pathogenic	13	52524497	52524497	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_000053.4(ATP7B):c.650T>G (p.Leu217Ter)	ATP7B	Likely pathogenic	13	52548706	52548706	A	C	criteria provided, single submitter	-
Duplication	NM_000053.4(ATP7B):c.738dup (p.Glu247Ter)	ATP7B	Likely pathogenic	13	52548617	52548618	C	CA	criteria provided, single submitter	-
Indel	NM_000053.4(ATP7B):c.1221_1223delinsTATA (p.Ile408_Ser409insTer)	ATP7B	Likely pathogenic	13	52548133	52548135	ATT	TATA	criteria provided, single submitter	-