LOC129388710[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 146285	GRCh38/hg38 1q31.1-32.1(chr1:189034483-199615866)x1	ASPM, ATP6V1G3 +173 more	Copy number loss	See cases	GPathogenic
Select item 560081	Single allele	B3GALT2, CDC73 +53 more	Deletion	Parathyroid carcinoma +2 more	GPathogenic
Select item 3024376	GRCh38/hg38 1q31.2-31.3(chr1:193733481-196205927)	LINC01724, LOC121725067 +19 more	Copy number loss	Autism spectrum disorder	GUncertain significance
Select item 549575	NC_000001.11:g.194043799_194353490dup	LOC129388707, LOC129388708 +4 more	Duplication	Primary amenorrhea	GLikely benign
Select item 150845	GRCh38/hg38 1q31.3(chr1:194260752-196604554)x1	KCNT2, LINC01724 +16 more	Copy number loss	See cases	GUncertain significance

ClinVar