LOC129388680[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154301	GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1	LOC129932075, LOC129932076 +560 more	Copy number loss	See cases	GPathogenic
Select item 144717	GRCh38/hg38 1q25.2-31.3(chr1:176595962-196301688)x1	ANGPTL1, APOBEC4 +455 more	Copy number loss	See cases	GPathogenic
Select item 60076	GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1	LOC129388668, LOC129388669 +477 more	Copy number loss	See cases	GPathogenic
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	PIK3C2B, PKP1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 154590	GRCh38/hg38 1q31.1(chr1:188605312-189886436)x1	LINC01035, LOC108281185 +12 more	Copy number loss	See cases	GLikely benign
Select item 146285	GRCh38/hg38 1q31.1-32.1(chr1:189034483-199615866)x1	ASPM, ATP6V1G3 +173 more	Copy number loss	See cases	GPathogenic
Select item 151335	GRCh38/hg38 1q31.1(chr1:189124219-189988145)x3	LOC129388674, LOC129388675 +6 more	Copy number gain	See cases	GBenign
Select item 154685	GRCh38/hg38 1q31.1(chr1:189160201-189955259)x3	LOC129388674, LOC129388675 +6 more	Copy number gain	See cases	GBenign
Select item 154492	GRCh38/hg38 1q31.1-31.2(chr1:189460972-190945450)x3	BRINP3, BRINP3-DT +20 more	Copy number gain	See cases	GLikely benign
Select item 146340	GRCh38/hg38 1q31.1(chr1:189593085-190776678)x1	BRINP3, BRINP3-DT +19 more	Copy number loss	See cases	GLikely benign
Select item 154422	GRCh38/hg38 1q31.1(chr1:189593095-190116947)x3	BRINP3, LOC129388676 +7 more	Copy number gain	See cases	GLikely benign
Select item 148710	GRCh38/hg38 1q31.1(chr1:189636317-190166135)x3	BRINP3, LOC129388676 +7 more	Copy number gain	See cases	GUncertain significance