Related gene-specific medical variations for Gene (Select 2782) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2576056	NM_002074.5(GNB1):c.267+1dup	GNB1	Duplication (splice donor variant)	not provided	GPathogenic
Select item 2432202	NM_002074.5(GNB1):c.955G>C (p.Gly319Arg)	GNB1 (G219R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 42	GUncertain significance
Select item 1700090	NM_002074.5(GNB1):c.229G>T (p.Gly77Cys)	GNB1 (G77C)	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability, autosomal dominant 42 +1 more	GPathogenic
Select item 1696698	NM_002074.5(GNB1):c.431-4668T>C	GNB1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 42	GUncertain significance
Select item 1696697	NM_002074.5(GNB1):c.*1316G>C	GNB1	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, autosomal dominant 42	GUncertain significance
Select item 995963	NM_002074.5(GNB1):c.727A>G (p.Thr243Ala)	GNB1 (T143A +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 42	Gnot provided

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