Related gene-specific medical variations for Gene (Select 2776) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2689138	NM_002072.5(GNAQ):c.735+30A>G	GNAQ	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1527527	GRCh37/hg19 9q21.2(chr9:80322373-80644551)	GNAQ	Copy number loss	not specified	GUncertain significance
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 144974	GRCh38/hg38 9q21.2(chr9:77828133-77845836)x1	GNAQ	Copy number loss	See cases	GBenign

ClinVar