ClinVar for MedGen (Select 482767) - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 625732	GRCh37/hg19 17q12(chr17:34437475-36214026)	AATF, ACACA +20 more	Copy number gain	Chromosome 17q12 duplication syndrome	GPathogenic
Select item 625680	GRCh37/hg19 17q12(chr17:34842059-36214026)	AATF, ACACA +13 more	Copy number gain	Chromosome 17q12 duplication syndrome	GPathogenic
Select item 625651	GRCh37/hg19 17q12(chr17:34819191-36104803)	AATF, ACACA +13 more	Copy number gain	Chromosome 17q12 duplication syndrome	GPathogenic
Select item 625612	GRCh37/hg19 17q12(chr17:34848678-36194230)	AATF, ACACA +13 more	Copy number gain	Chromosome 17q12 duplication syndrome	GPathogenic
Select item 223237	Single allele		Variation	Chromosome 17q12 duplication syndrome	GPathogenic

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