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

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Search results

Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151910	GRCh38/hg38 9q21.2(chr9:77531690-78300187)x1	CEP78, GNA14 +10 more	Copy number loss	See cases	GLikely pathogenic
Select item 768309	NM_002072.5(GNAQ):c.736-18dup	GNAQ	Duplication (intron variant)	not provided	GBenign
Select item 776427	NM_002072.5(GNAQ):c.736-5del	GNAQ	Deletion (intron variant)	not provided	GBenign
Select item 1286804	NM_002072.5(GNAQ):c.735+241G>C	GNAQ	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234387	NM_002072.5(GNAQ):c.735+34T>C	GNAQ	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1305988	NM_002072.5(GNAQ):c.735+1G>T	GNAQ	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1279961	NM_002072.5(GNAQ):c.606-304C>T	GNAQ	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241938	NM_002072.5(GNAQ):c.322-116G>T	GNAQ	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 144974	GRCh38/hg38 9q21.2(chr9:77828133-77845836)x1	GNAQ	Copy number loss	See cases	GBenign
Select item 1282970	NM_002072.5(GNAQ):c.136+181CA[19]	GNAQ	Microsatellite (intron variant)	not provided	GBenign
Select item 1282592	NM_002072.5(GNAQ):c.136+181CA[17]	GNAQ	Microsatellite (intron variant)	not provided	GBenign
Select item 1261320	NM_002072.5(GNAQ):c.136+181CA[18]	GNAQ	Microsatellite (intron variant)	not provided	GBenign
Select item 1270845	NM_002072.5(GNAQ):c.136+181CA[15]	GNAQ	Microsatellite (intron variant)	not provided	GBenign
Select item 1232832	NM_002072.5(GNAQ):c.136+181CA[12]	GNAQ	Microsatellite (intron variant)	not provided	GBenign
Select item 2580797	NM_002072.5(GNAQ):c.81_90dup (p.Arg31fs)	GNAQ (R31fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1229612	NM_002072.5(GNAQ):c.-382G>A	GNAQ	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1260835	NM_002072.5(GNAQ):c.-387G>A	GNAQ	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic