Related gene-specific medical variations for Gene (Select 2567) - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1808510	GRCh37/hg19 15q12(chr15:27265912-27757627)x3	GABRG3	Copy number gain	not provided	GUncertain significance
Select item 1340085	GRCh37/hg19 15q12(chr15:27195927-27607806)x3	GABRG3	Copy number gain	not provided	GUncertain significance
Select item 686880	GRCh37/hg19 15q12(chr15:27276803-27569198)x1	GABRG3	Copy number loss	not provided	GUncertain significance
Select item 638675	GRCh37/hg19 15q12(chr15:27462869-27544157)	GABRG3	Copy number gain	Imperforate anus +4 more	GUncertain significance
Select item 100886	NM_033223.5(GABRG3):c.336A>G (p.Thr112=)	GABRG3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance

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