"GeneDx"[submitter] AND "LOC129388429"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58244	GRCh38/hg38 1p36.33-36.31(chr1:629044-7008678)x1	LOC129929262, LOC129929263 +458 more	Copy number loss	See cases	GPathogenic
Select item 152936	GRCh38/hg38 1p36.32-36.23(chr1:2868477-7332569)x1	LOC112577578, LOC112577579 +199 more	Copy number loss	See cases	GPathogenic
Select item 59852	GRCh38/hg38 1p36.32-36.23(chr1:3472163-7842947)x1	ACOT7, AJAP1 +193 more	Copy number loss	See cases	GPathogenic
Select item 1258837	NM_198681.4(PLEKHG5):c.-165+167A>G	LOC129388429, PLEKHG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240792	NM_198681.4(PLEKHG5):c.-165+45G>A	LOC129388429, PLEKHG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216050	NM_198681.4(PLEKHG5):c.-165+44G>C	LOC129388429, PLEKHG5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 670484	NM_020631.4(PLEKHG5):c.-27912C>G	LOC129388429, PLEKHG5	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign

ClinVar