LOC130005522[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154432	GRCh38/hg38 11p15.1-13(chr11:20079474-34463996)x1	ABTB2, ANO3 +283 more	Copy number loss	See cases	GPathogenic
Select item 58858	GRCh38/hg38 11p14.3-12(chr11:22550115-38199159)x1	PAX6_HS3, PAX6_HS8 +334 more	Copy number loss	See cases	GPathogenic
Select item 145969	GRCh38/hg38 11p14.2-13(chr11:26368962-35252976)x1	LOC129390275, LOC129390276 +255 more	Copy number loss	See cases	GPathogenic
Select item 2569372	NM_005574.4(LMO2):c.52G>C (p.Ala18Pro)	LMO2, LOC130005522 (A18P)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3119351	NM_005574.4(LMO2):c.31C>G (p.Arg11Gly)	LMO2, LOC130005522 (R11G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2594878	NM_005574.4(LMO2):c.25C>T (p.Leu9Phe)	LMO2, LOC130005522 (L9F)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2490080	NM_005574.4(LMO2):c.14C>T (p.Ala5Val)	LMO2, LOC130005522 (A5V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance

ClinVar