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
Indel	NM_000053.4(ATP7B):c.1221_1223delinsTATA (p.Ile408_Ser409insTer)	ATP7B	Likely pathogenic	13	52548133	52548135	ATT	TATA	criteria provided, single submitter	-
single nucleotide variant	NM_000053.4(ATP7B):c.1285+2T>A	ATP7B	Likely pathogenic	13	52548069	52548069	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA274399
Insertion	NM_000053.4(ATP7B):c.1337_1338insTT (p.Gln447fs)	ATP7B	Likely pathogenic	13	52544833	52544834	C	CAA	criteria provided, single submitter	ClinGen:CA16041680
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
single nucleotide variant	NM_000053.4(ATP7B):c.1372G>T (p.Glu458Ter)	ATP7B	Pathogenic/Likely pathogenic	13	52544799	52544799	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041678
Duplication	NM_000053.4(ATP7B):c.1392dup (p.Arg465fs)	ATP7B	Likely pathogenic	13	52544778	52544779	T	TC	criteria provided, single submitter	-
single nucleotide variant	NM_000053.4(ATP7B):c.1470C>A (p.Cys490Ter)	ATP7B	Pathogenic/Likely pathogenic	13	52544701	52544701	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA6989342
single nucleotide variant	NM_000053.4(ATP7B):c.1475T>C (p.Leu492Ser)	ATP7B	Likely pathogenic	13	52544696	52544696	A	G	criteria provided, single submitter	-
Duplication	NM_000053.4(ATP7B):c.1512dup (p.Asn505Ter)	ATP7B	Pathogenic/Likely pathogenic	13	52544658	52544659	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041677
single nucleotide variant	NM_000053.4(ATP7B):c.1531C>T (p.Gln511Ter)	ATP7B	Pathogenic	13	52544640	52544640	G	A	criteria provided, multiple submitters, no conflicts	-