"GeneDx"[submitter] AND "LOC126862097"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57876	GRCh38/hg38 15q13.3-14(chr15:32326136-39394068)x1	LOC132090301, LOC132090302 +178 more	Copy number loss	See cases	GPathogenic
Select item 57877	GRCh38/hg38 15q13.3-15.1(chr15:32635803-40233825)x1	ACTC1, AQR +219 more	Copy number loss	See cases	GPathogenic
Select item 1311013	NM_001365088.1(SLC12A6):c.2623A>G (p.Thr875Ala)	LOC126862097, SLC12A6 (T816A +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1309757	NM_001365088.1(SLC12A6):c.2564C>A (p.Thr855Lys)	LOC126862097, SLC12A6 (T796K +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2430497	NM_001365088.1(SLC12A6):c.2485C>G (p.Leu829Val)	LOC126862097, SLC12A6 (L770V +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1251887	NM_001365088.1(SLC12A6):c.2437-114dup	LOC126862097, SLC12A6	Duplication (intron variant)	not provided	GBenign
Select item 1187102	NM_001365088.1(SLC12A6):c.2437-189G>A	SLC12A6, LOC126862097	Single nucleotide variant (intron variant)	not provided	GLikely benign

ClinVar