"Quest Diagnostics Nichols Institute San Juan Capistrano"[submitter] A - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2685152	GRCh37/hg19 5p13.3-13.2(chr5:33761025-33891010)x1	ADAMTS12	Copy number loss	not provided	GUncertain significance
Select item 2685151	GRCh37/hg19 5p13.3(chr5:33567647-33636594)x1	ADAMTS12	Copy number loss	not provided	GUncertain significance
Select item 2685139	GRCh37/hg19 5p15.33-13.2(chr5:113577-35613146)x1	ADAMTS12, ADAMTS16 +89 more	Copy number loss	not provided	GPathogenic
Select item 2684412	GRCh37/hg19 5p13.3-13.2(chr5:33303213-34037349)x3	ADAMTS12, AMACR +4 more	Copy number gain	not provided	GUncertain significance
Select item 1809305	GRCh37/hg19 5p13.3-13.2(chr5:33527851-33871914)x1	ADAMTS12	Copy number loss	not provided	GUncertain significance
Select item 1808669	GRCh37/hg19 5p13.3-11(chr5:29348753-46389339)x3	ADAMTS12, AGXT2 +71 more	Copy number gain	not provided	GPathogenic
Select item 979507	GRCh37/hg19 5p13.3-13.2(chr5:33501565-34167822)x3	ADAMTS12, SLC45A2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 979505	GRCh37/hg19 5p13.3(chr5:33255507-33768313)x3	TARS1, ADAMTS12	Copy number gain	not provided	GLikely benign
Select item 814678	GRCh37/hg19 5p13.3-13.2(chr5:29720391-34124081)x1	TARS1, RXFP3 +13 more	Copy number loss	not provided	GUncertain significance
Select item 563053	GRCh37/hg19 5p14.1-12(chr5:27227243-45685844)x3	C1QTNF3, C5orf22 +71 more	Copy number gain	not provided	GPathogenic
Select item 563027	GRCh37/hg19 5p15.33-13.2(chr5:113576-35739404)x3	ADAMTS12, ADAMTS16 +90 more	Copy number gain	not provided	GPathogenic