ClinVar for Gene (Select 126862348) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1184380	Single allele	SLC38A7, SLC6A2 +519 more	Duplication	not provided	GPathogenic
Select item 221522	GRCh38/hg38 16q12.1-12.2(chr16:48543083-53879916)x1	ADCY7, AKTIP +171 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 155685	GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3	LINC02168, LINC02169 +675 more	Copy number gain	See cases	GPathogenic
Select item 148728	GRCh38/hg38 16q12.1-12.2(chr16:51749870-53547882)x1	AKTIP, CASC16 +42 more	Copy number loss	See cases	GUncertain significance
Select item 148654	GRCh38/hg38 16q12.1-12.2(chr16:49570553-53467065)x1	LOC110120583, LOC110120584 +136 more	Copy number loss	See cases	GPathogenic
Select item 148231	GRCh38/hg38 16q11.2-12.1(chr16:46466829-52422170)x1	ABCC11, ABCC12 +210 more	Copy number loss	See cases	GPathogenic
Select item 148087	GRCh38/hg38 16q11.2-12.1(chr16:46466829-52355793)x3	LINC02128, LINC02133 +209 more	Copy number gain	See cases	GPathogenic
Select item 146164	GRCh38/hg38 16q12.1(chr16:51275229-52592217)x1	CASC16, CASC22 +21 more	Copy number loss	See cases	GUncertain significance
Select item 144728	GRCh38/hg38 16q12.1(chr16:51647991-52422170)x3	CASC22, LINC00919 +6 more	Copy number gain	See cases	GLikely benign
Select item 59490	GRCh38/hg38 16q12.1-12.2(chr16:50784329-55566715)x1	AKTIP, CAPNS2 +104 more	Copy number loss	See cases	GPathogenic
Select item 59487	GRCh38/hg38 16q12.1-12.2(chr16:47250644-54121476)x1	ABCC11, ABCC12 +210 more	Copy number loss	See cases	GPathogenic
Select item 59486	GRCh38/hg38 16q11.2-12.1(chr16:46471520-52405956)x1	ABCC11, ABCC12 +209 more	Copy number loss	See cases	GPathogenic