LOC130005846[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149385	GRCh38/hg38 11q12.3(chr11:62249520-62946093)x3	AHNAK, ASRGL1 +110 more	Copy number gain	See cases	GPathogenic
Select item 59754	GRCh38/hg38 11q12.3(chr11:62433886-63096003)x3	AHNAK, B3GAT3 +105 more	Copy number gain	See cases	GPathogenic
Select item 59755	GRCh38/hg38 11q12.3(chr11:62452571-62862781)x3	AHNAK, B3GAT3 +95 more	Copy number gain	See cases	GPathogenic
Select item 145432	GRCh38/hg38 11q12.3(chr11:62562836-62840570)x3	B3GAT3, BSCL2 +70 more	Copy number gain	See cases	GUncertain significance
Select item 726523	NM_001043229.2(CSKMT):c.181C>T (p.Gln61Ter)	CSKMT, LBHD1 +1 more (Q61*)	Single nucleotide variant (nonsense +1 more)	not provided	GBenign
Select item 3269780	NM_001043229.2(CSKMT):c.184G>C (p.Gly62Arg)	LOC130005846, LBHD1 +1 more (G62R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

ClinVar