LOC126859794[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996786, LOC129996787 +1449 more	Copy number gain	See cases	GPathogenic
Select item 1703230	Single allele	AKAP7, ARG1 +400 more	Deletion	Interstitial 6q microdeletion syndrome	GPathogenic
Select item 59545	GRCh38/hg38 6q23.2(chr6:132455272-133141153)x3	LINC00326, LOC123864071 +34 more	Copy number gain	See cases	GUncertain significance
Select item 2239813	NM_004665.6(VNN2):c.1253C>A (p.Pro418Gln)	LOC126859794, VNN2 (P365Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188725	NM_004665.6(VNN2):c.1250G>A (p.Arg417Gln)	LOC126859794, VNN2 (R364Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2337689	NM_004665.6(VNN2):c.1234T>G (p.Leu412Val)	LOC126859794, VNN2 (L359V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

ClinVar