"Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Ch - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 50853	NM_002072.5(GNAQ):c.548G>A (p.Arg183Gln)	GNAQ (R183Q)	Single nucleotide variant (missense variant)	Angioosteohypertrophic syndrome +6 more	GPathogenic/Likely pathogenic
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 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 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ABCA1, ABHD17B +417 more	Copy number loss	Distal tetrasomy 15q	GUncertain significance

ClinVar