GNAQ[gene] and "single gene"[properties] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1654539	NM_002072.5(GNAQ):c.1029C>T (p.Ala343=)	GNAQ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 743756	NM_002072.5(GNAQ):c.1017T>C (p.Phe339=)	GNAQ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3281762	NM_002072.5(GNAQ):c.946C>G (p.Leu316Val)	GNAQ (L316V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397617	NM_002072.5(GNAQ):c.897G>C (p.Gln299His)	GNAQ (Q299H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 733734	NM_002072.5(GNAQ):c.890-5G>A	GNAQ	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2290556	NM_002072.5(GNAQ):c.862C>A (p.Leu288Ile)	GNAQ (L288I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1592446	NM_002072.5(GNAQ):c.765T>C (p.Phe255=)	GNAQ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3058149	NM_002072.5(GNAQ):c.736-3dup	GNAQ	Duplication (intron variant)	GNAQ-related disorder	GLikely benign
Select item 770953	NM_002072.5(GNAQ):c.736-18_736-17dup	GNAQ	Duplication (intron variant)	not provided	GBenign
Select item 768309	NM_002072.5(GNAQ):c.736-18dup	GNAQ	Duplication (intron variant)	not provided	GBenign
Select item 3057817	NM_002072.5(GNAQ):c.736-5T>C	GNAQ	Single nucleotide variant (intron variant)	GNAQ-related disorder	GLikely benign
Select item 3040162	NM_002072.5(GNAQ):c.736-6_736-5del	GNAQ	Deletion (intron variant)	GNAQ-related disorder	GLikely benign
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 2689138	NM_002072.5(GNAQ):c.735+30A>G	GNAQ	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3257926	NM_002072.5(GNAQ):c.735+1G>A	GNAQ	Single nucleotide variant (splice donor variant)	Neoplasm	OUncertain significance
Select item 1305988	NM_002072.5(GNAQ):c.735+1G>T	GNAQ	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 724634	NM_002072.5(GNAQ):c.705T>C (p.Tyr235=)	GNAQ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1172602	NM_002072.5(GNAQ):c.627A>T (p.Gln209His)	GNAQ (Q209H)	Single nucleotide variant (missense variant)	Familial multiple nevi flammei +1 more	GPathogenic
Select item 1172601	NM_002072.5(GNAQ):c.627A>C (p.Gln209His)	GNAQ (Q209H)	Single nucleotide variant (missense variant)	Familial multiple nevi flammei +1 more	GPathogenic
Select item 376311	NM_002072.5(GNAQ):c.625_626delinsTT (p.Gln209Leu)	GNAQ (Q209L)	Indel (missense variant)	Uveal melanoma	GLikely pathogenic
Select item 375957	NM_002072.5(GNAQ):c.626A>C (p.Gln209Pro)	GNAQ (Q209P)	Single nucleotide variant (missense variant)	Melanoma +1 more	GPathogenic/Likely pathogenic
Select item 375956	NM_002072.5(GNAQ):c.626A>G (p.Gln209Arg)	GNAQ (Q209R)	Single nucleotide variant (missense variant)	Sturge-Weber syndrome	GPathogenic
Select item 375955	NM_002072.5(GNAQ):c.626A>T (p.Gln209Leu)	GNAQ (Q209L)	Single nucleotide variant (missense variant)	Sturge-Weber syndrome	GPathogenic
Select item 1279961	NM_002072.5(GNAQ):c.606-304C>T	GNAQ	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2636352	NM_002072.5(GNAQ):c.548G>C (p.Arg183Pro)	GNAQ (R183P)	Single nucleotide variant (missense variant)	GNAQ-related disorder	GUncertain significance
Select item 1285390	NM_002072.5(GNAQ):c.548G>T (p.Arg183Leu)	GNAQ (R183L)	Single nucleotide variant (missense variant)	Segmental undergrowth associated with capillary malformation	GPathogenic
Select item 50853	NM_002072.5(GNAQ):c.548G>A (p.Arg183Gln)	GNAQ (R183Q)	Single nucleotide variant (missense variant)	Capillary malformation +7 more	GPathogenic/Likely pathogenic OOncogenic
Select item 2664271	NM_002072.5(GNAQ):c.547C>G (p.Arg183Gly)	GNAQ (R183G)	Single nucleotide variant (missense variant)	Familial multiple nevi flammei	GPathogenic
Select item 738718	NM_002072.5(GNAQ):c.525G>A (p.Thr175=)	GNAQ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2540366	NM_002072.5(GNAQ):c.456A>C (p.Gln152His)	GNAQ (Q152H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1540811	NM_002072.5(GNAQ):c.402T>C (p.Ser134=)	GNAQ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 736460	NM_002072.5(GNAQ):c.388G>A (p.Asp130Asn)	GNAQ (D130N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 747842	NM_002072.5(GNAQ):c.330A>G (p.Ala110=)	GNAQ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1988851	NM_002072.5(GNAQ):c.322-13T>C	GNAQ	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2659271	NM_002072.5(GNAQ):c.267C>T (p.Ala89=)	GNAQ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1625940	NM_002072.5(GNAQ):c.255G>C (p.Thr85=)	GNAQ	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2328117	NM_002072.5(GNAQ):c.230A>G (p.Lys77Arg)	GNAQ (K77R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 738574	NM_002072.5(GNAQ):c.162G>A (p.Thr54=)	GNAQ	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1691370	NM_002072.5(GNAQ):c.143G>T (p.Gly48Val)	GNAQ (G48V)	Single nucleotide variant (missense variant)	Sturge-Weber syndrome +1 more	GPathogenic/Likely pathogenic
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 764049	NM_002072.5(GNAQ):c.136+8C>T	GNAQ	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1527527	GRCh37/hg19 9q21.2(chr9:80322373-80644551)	GNAQ	Copy number loss	not specified	GUncertain significance

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Items: 53