"GeneDx"[submitter] AND "GNB1"[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58244	GRCh38/hg38 1p36.33-36.31(chr1:629044-7008678)x1	LOC129929262, LOC129929263 +458 more	Copy number loss	See cases	GPathogenic
Select item 58036	GRCh38/hg38 1p36.33-36.32(chr1:792758-5006311)x3	LINC01786, LINC02593 +338 more	Copy number gain	See cases	GPathogenic
Select item 58315	GRCh38/hg38 1p36.33-36.32(chr1:872305-2642603)x3	ACAP3, AGRN +246 more	Copy number gain	See cases	GPathogenic
Select item 58318	GRCh38/hg38 1p36.33-36.31(chr1:1181847-5507243)x1	ACAP3, ACTRT2 +273 more	Copy number loss	See cases	GPathogenic
Select item 1279222	NM_002074.5(GNB1):c.*9+119G>T	GNB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1326133	NM_002074.5(GNB1):c.1022A>C (p.Ter341Ser)	GNB1	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 870135	NM_002074.5(GNB1):c.987_988del (p.Gly330fs)	GNB1 (G330fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3369876	NM_002074.5(GNB1):c.940C>T (p.Arg314Cys)	GNB1 (R214C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1200272	NM_002074.5(GNB1):c.917-2A>G	GNB1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1695873	NM_002074.5(GNB1):c.891G>T (p.Trp297Cys)	GNB1 (W197C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 452928	NM_002074.5(GNB1):c.830C>G (p.Ser277Cys)	GNB1 (S277C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252438	NM_002074.5(GNB1):c.815G>T (p.Gly272Val)	GNB1 (G172V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1318862	NM_002074.5(GNB1):c.800ACA[1] (p.Asn268del)	GNB1 (N168del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 870212	NM_002074.5(GNB1):c.700-1G>T	GNB1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2430986	NM_002074.5(GNB1):c.687C>G (p.Ile229Met)	GNB1 (I129M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370688	NM_002074.5(GNB1):c.513C>G (p.Ile171Met)	GNB1 (I171M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1278310	NM_002074.5(GNB1):c.497+168dup	GNB1	Duplication (intron variant)	not provided	GBenign
Select item 3363353	NM_002074.5(GNB1):c.497G>C (p.Cys166Ser)	GNB1 (C166S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 775489	NM_002074.5(GNB1):c.462C>T (p.Asp154=)	GNB1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 3372534	NM_002074.5(GNB1):c.392G>A (p.Gly131Glu)	GNB1 (G131E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 452797	NM_002074.5(GNB1):c.388G>A (p.Glu130Lys)	GNB1 (E130K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 812755	NM_002074.5(GNB1):c.352G>T (p.Asp118Tyr)	GNB1 (D118Y +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1194565	NM_002074.5(GNB1):c.347G>T (p.Gly116Val)	GNB1 (G116V +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 444149	NM_002074.5(GNB1):c.346G>A (p.Gly116Ser)	GNB1 (G116S +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 981265	NM_002074.5(GNB1):c.343G>A (p.Gly115Ser)	GNB1 (G115S +1 more)	Single nucleotide variant (missense variant)	See cases +2 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 3369475	NM_002074.5(GNB1):c.295T>C (p.Trp99Arg)	GNB1 (W99R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1800950	NM_002074.5(GNB1):c.293C>T (p.Ser98Phe)	GNB1 (S98F)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1316434	NM_002074.5(GNB1):c.268-7T>A	GNB1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 422536	NM_002074.5(GNB1):c.266A>G (p.Lys89Arg)	GNB1 (K89R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 391609	NM_002074.5(GNB1):c.239T>G (p.Ile80Ser)	GNB1 (I80S)	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability, autosomal dominant 42 +1 more	GPathogenic/Likely pathogenic
Select item 224715	NM_002074.5(GNB1):c.239T>A (p.Ile80Asn)	GNB1 (I80N)	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability, autosomal dominant 42 +2 more	GPathogenic
Select item 208722	NM_002074.5(GNB1):c.239T>C (p.Ile80Thr)	GNB1 (I80T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +7 more	GPathogenic/Likely pathogenic
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 985590	NM_002074.5(GNB1):c.230G>A (p.Gly77Asp)	GNB1 (G77D)	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability +3 more	GPathogenic/Likely pathogenic
Select item 431082	NM_002074.5(GNB1):c.230G>C (p.Gly77Ala)	GNB1 (G77A)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 224713	NM_002074.5(GNB1):c.229G>A (p.Gly77Ser)	GNB1 (G77S)	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability, autosomal dominant 42 +2 more	GPathogenic/Likely pathogenic
Select item 224711	NM_002074.5(GNB1):c.227A>G (p.Asp76Gly)	GNB1 (D76G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 976696	NM_002074.5(GNB1):c.226G>A (p.Asp76Asn)	GNB1 (D76N)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 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 1321652	NM_002074.5(GNB1):c.163C>G (p.Leu55Val)	GNB1 (L55V)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 1326280	NM_002074.5(GNB1):c.154C>T (p.Arg52Trp)	GNB1 (R52W)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 3375662	NM_002074.5(GNB1):c.113A>G (p.Asp38Gly)	GNB1 (D38G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3373730	NM_002074.5(GNB1):c.109A>G (p.Ile37Val)	GNB1 (I37V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 253727	GRCh37/hg19 1p36.33(chr1:1770754-1989014)x3	CALML6, CFAP74 +4 more	Copy number gain	See cases	GUncertain significance
Select item 253626	GRCh37/hg19 1p36.33-36.32(chr1:874455-3177921)x1	ACAP3, ACTRT2 +64 more	Copy number loss	See cases	GPathogenic
Select item 253595	GRCh37/hg19 1p36.33-36.32(chr1:874455-2577794)x1	ACAP3, AGRN +62 more	Copy number loss	See cases	GPathogenic
Select item 253459	GRCh37/hg19 1p36.33-36.21(chr1:746608-15077159)x1	CCNL2, CDK11A +188 more	Copy number loss	See cases	GPathogenic
Select item 253365	GRCh37/hg19 1p36.33(chr1:1309373-2043694)x4	SLC35E2B, CALML6 +23 more	Copy number gain	See cases	GLikely pathogenic
Select item 3360136	NM_002074.5(GNB1):c.364T>C (p.Ser122Pro)	GNB1 (S122P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 50