"GeneDx"[submitter] AND "LOC129994526"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 59673	GRCh38/hg38 5q23.1-31.1(chr5:116677122-132686163)x1	LOC129994580, LOC129994581 +336 more	Copy number loss	See cases	GPathogenic
Select item 1264952	NC_000005.10:g.128083709CGC[6]	SLC12A2, LOC129994526	Microsatellite	not provided	GBenign
Select item 1510335	NM_001046.3(SLC12A2):c.235A>C (p.Ser79Arg)	SLC12A2, LOC129994526 (S79R)	Single nucleotide variant (missense variant +1 more)	Kilquist syndrome +4 more	GUncertain significance
Select item 3364658	NM_001046.3(SLC12A2):c.287C>T (p.Ala96Val)	LOC129994526, SLC12A2 (A96V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 768030	NM_001046.3(SLC12A2):c.303G>A (p.Ala101=)	LOC129994526, SLC12A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign

ClinVar