LOC126805696[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	TXLNA, UBXN11 +1145 more	Copy number gain	See cases	GPathogenic
Select item 2672311	Single allele	ARTN, ATP6V0B +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 148904	GRCh38/hg38 1p34.3(chr1:34753938-36055310)x1	AGO1, AGO3 +70 more	Copy number loss	See cases	GLikely pathogenic
Select item 149964	GRCh38/hg38 1p34.3(chr1:35934217-36821999)x4	ADPRS, AGO3 +50 more	Copy number gain	See cases	GLikely pathogenic
Select item 2566102	NM_024852.4(AGO3):c.1738G>C (p.Val580Leu)	AGO3, LOC126805696 (V580L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 752985	NM_024852.4(AGO3):c.1751+10G>A	AGO3, LOC126805696	Single nucleotide variant (intron variant)	not provided	GLikely benign

ClinVar