"GeneDx"[submitter] AND "GNB3"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146024	GRCh38/hg38 12p13.33-13.31(chr12:45740-6945196)x3	ACRBP, ADIPOR2 +348 more	Copy number gain	See cases	GPathogenic
Select item 58985	GRCh38/hg38 12p13.31(chr12:6728665-7705620)x1	LOC130007275, LOC130007276 +97 more	Copy number loss	See cases	GPathogenic
Select item 1257613	NM_002075.4(GNB3):c.-30-19G>A	GNB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241947	NM_002075.4(GNB3):c.699+114_699+115insC	GNB3	Insertion (intron variant)	not provided	GBenign/Likely benign
Select item 1166705	NM_002075.4(GNB3):c.699+115A>C	GNB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1141148	NM_002075.4(GNB3):c.699+115A>T	GNB3	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1137233	NM_002075.4(GNB3):c.699+115del	GNB3	Deletion (intron variant)	not provided	GBenign/Likely benign
Select item 1288061	NM_002075.4(GNB3):c.699+116T>C	GNB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 675808	NM_002075.4(GNB3):c.700-126G>A	GNB3, CDCA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1169656	NM_002075.4(GNB3):c.762C>T (p.Asp254=)	CDCA3, GNB3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1170122	NM_002075.4(GNB3):c.814G>A (p.Gly272Ser)	CDCA3, GNB3 (G271S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 226004	NM_002075.4(GNB3):c.825C>T (p.Ser275=)	CDCA3, GNB3	Single nucleotide variant (synonymous variant +1 more)	Congenital stationary night blindness 1H +1 more	GBenign
Select item 1226951	NM_002075.4(GNB3):c.917-95A>C	CDCA3, GNB3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1180094	NM_002075.4(GNB3):c.917-94_917-93insCC	CDCA3, GNB3	Insertion (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1243340	NM_002075.4(GNB3):c.917-90CA[5]	CDCA3, GNB3	Microsatellite (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1231323	NM_002075.4(GNB3):c.917-91C>A	CDCA3, GNB3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1260978	NM_002075.4(GNB3):c.*118C>T	CDCA3, GNB3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 253582	GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4	ACSM4, CCND2 +278 more	Copy number gain	See cases	GPathogenic
Select item 253493	GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic