"Baylor Genetics"[submitter] AND "GNB1"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1033473	NM_002074.5(GNB1):c.520G>A (p.Gly174Ser)	GNB1 (G74S +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 42 +1 more	GConflicting classifications of pathogenicity
Select item 224717	NM_002074.5(GNB1):c.301A>G (p.Met101Val)	GNB1 (M101V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1032797	NM_002074.5(GNB1):c.267+7A>G	GNB1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 42 +1 more	GConflicting classifications of pathogenicity
Select item 224714	NM_002074.5(GNB1):c.233A>G (p.Lys78Arg)	GNB1 (K78R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1029408	NM_002074.5(GNB1):c.178G>A (p.Ala60Thr)	GNB1 (A60T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 625768	GRCh37/hg19 1p36.33-36.32(chr1:568708-2567832)	CFAP74, CPTP +62 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 625767	GRCh37/hg19 1p36.33-36.32(chr1:568708-3662949)	MEGF6, MIB2 +71 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 625766	GRCh37/hg19 1p36.33-36.31(chr1:823964-6828363)	ANKRD65, ARHGEF16 +97 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 625765	GRCh37/hg19 1p36.33-36.31(chr1:1471075-5831645)	ACTRT2, AJAP1 +41 more	Copy number gain	not provided	GPathogenic