"ISCA Site 6"[submitter] AND "ERC1"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	A2M, A2M-AS1 +1009 more	Copy number gain	See cases	GPathogenic
Select item 58206	GRCh38/hg38 12p13.33(chr12:1453550-2575642)x3	ADIPOR2, CACNA1C +49 more	Copy number gain	See cases	GUncertain significance
Select item 395673	GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150)	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 394878	GRCh37/hg19 12p13.33(chr12:1122611-1577322)x3	ERC1	Copy number gain	See cases	GLikely benign

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