LOC130005861[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 2379186	NM_006473.4(TAF6L):c.1507C>T (p.Arg503Trp)	LOC130005861, TAF6L +1 more (R503W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521230	NM_006473.4(TAF6L):c.1537G>T (p.Ala513Ser)	LOC130005861, TAF6L +1 more (A513S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612255	NM_006473.4(TAF6L):c.1555T>C (p.Ser519Pro)	LOC130005861, TAF6L +1 more (S519P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar