"GeneDx"[submitter] AND "LOC126860700"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 144971	GRCh38/hg38 9q22.32-31.3(chr9:95061030-108695569)x1	LOC130002205, LOC130002206 +417 more	Copy number loss	See cases	GPathogenic
Select item 1253680	NM_005458.8(GABBR2):c.732+220A>G	GABBR2, LOC126860700	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1202001	NM_005458.8(GABBR2):c.732+43A>G	GABBR2, LOC126860700	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3340957	NM_005458.8(GABBR2):c.667G>T (p.Asp223Tyr)	GABBR2, LOC126860700 (D223Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 712242	NM_005458.8(GABBR2):c.663C>T (p.Gly221=)	GABBR2, LOC126860700	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy +1 more	GBenign/Likely benign
Select item 1167957	NM_005458.8(GABBR2):c.631-7C>T	LOC126860700, GABBR2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign

ClinVar