ClinVar for MedGen (Select 934741) - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3359132	NM_002074.5(GNB1):c.833_835del (p.Phe278del)	GNB1 (F178del +1 more)	Deletion (inframe_deletion)	Intellectual disability, autosomal dominant 42	GUncertain significance
Select item 3237184	NM_002074.5(GNB1):c.296G>T (p.Trp99Leu)	GNB1 (W99L)	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability, autosomal dominant 42	GLikely pathogenic
Select item 3066080	NM_002074.5(GNB1):c.332A>G (p.Tyr111Cys)	GNB1 (Y111C +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 42	GUncertain significance
Select item 3024332	NM_002074.5(GNB1):c.814G>A (p.Gly272Arg)	GNB1 (G172R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 42 +2 more	GLikely pathogenic
Select item 2572418	NM_002074.5(GNB1):c.93_94del (p.Gln32fs)	GNB1 (Q32fs)	Microsatellite (frameshift variant +1 more)	Intellectual disability, autosomal dominant 42	GLikely pathogenic
Select item 2444031	NM_002074.5(GNB1):c.183G>T (p.Met61Ile)	GNB1 (M61I)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 42	GLikely pathogenic
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 2000177	NM_002074.5(GNB1):c.281C>G (p.Pro94Arg)	GNB1 (P94R)	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability, autosomal dominant 42 +1 more	GConflicting classifications of pathogenicity
Select item 1710142	NM_002074.5(GNB1):c.326G>A (p.Gly109Glu)	GNB1 (G109E +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 42	GLikely pathogenic
Select item 1700090	NM_002074.5(GNB1):c.229G>T (p.Gly77Cys)	GNB1 (G77C)	Single nucleotide variant (5 prime UTR variant +1 more)	Neurodevelopmental delay +1 more	GPathogenic
Select item 1699320	NM_002074.5(GNB1):c.228T>A (p.Asp76Glu)	GNB1 (D76E)	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability, autosomal dominant 42	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 1687407	NM_002074.5(GNB1):c.1007T>A (p.Leu336His)	GNB1 (L236H +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 42	GUncertain significance
Select item 1562666	NM_002074.5(GNB1):c.402C>T (p.Arg134=)	GNB1	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
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 1315582	NM_002074.5(GNB1):c.230G>T (p.Gly77Val)	GNB1 (G77V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 1315581	NM_002074.5(GNB1):c.341G>A (p.Cys114Tyr)	GNB1 (C114Y +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 42	GPathogenic
Select item 1315579	NM_002074.5(GNB1):c.917-1G>T	GNB1	Single nucleotide variant (splice acceptor variant)	Intellectual disability, autosomal dominant 42	GPathogenic
Select item 1315578	NM_002074.5(GNB1):c.915_916del (p.Gly306fs)	GNB1 (G206fs +1 more)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 42	GPathogenic
Select item 1315577	NM_002074.5(GNB1):c.272_275del (p.His91fs)	GNB1 (H91fs)	Deletion (5 prime UTR variant +1 more)	Intellectual disability, autosomal dominant 42	GPathogenic
Select item 1315576	NM_002074.5(GNB1):c.268-1G>T	GNB1	Single nucleotide variant (splice acceptor variant)	Intellectual disability, autosomal dominant 42	GPathogenic
Select item 1285499	NM_002074.5(GNB1):c.487G>A (p.Asp163Asn)	GNB1 (D163N +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 42 +1 more	GConflicting classifications of pathogenicity
Select item 1048759	NM_002074.5(GNB1):c.496T>C (p.Cys166Arg)	GNB1 (C166R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 42	GLikely pathogenic
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 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 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 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
Select item 995962	NM_002074.5(GNB1):c.287G>T (p.Arg96Leu)	GNB1 (R96L)	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability, autosomal dominant 42	GPathogenic
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 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 976435	NM_002074.5(GNB1):c.280C>T (p.Pro94Ser)	GNB1 (P94S)	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability, autosomal dominant 42 +1 more	GUncertain significance
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 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 638348	NM_002074.5(GNB1):c.34G>A (p.Glu12Lys)	GNB1 (E12K)	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability, autosomal dominant 42 +1 more	GConflicting classifications of pathogenicity
Select item 633546	NM_002074.5(GNB1):c.274G>A (p.Ala92Thr)	GNB1 (A92T)	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability +2 more	GPathogenic/Likely pathogenic
Select item 617622	NM_002074.5(GNB1):c.158G>A (p.Gly53Glu)	GNB1 (G53E)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 42	GLikely pathogenic
Select item 521213	NM_002074.5(GNB1):c.353A>G (p.Asp118Gly)	GNB1 (D118G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GPathogenic
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 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 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 224718	NM_002074.5(GNB1):c.976G>A (p.Ala326Thr)	GNB1 (A326T +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 42	GLikely pathogenic
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 224716	NM_002074.5(GNB1):c.284T>C (p.Leu95Pro)	GNB1 (L95P)	Single nucleotide variant (5 prime UTR variant +1 more)	Microcephaly +2 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)	Acute lymphoid leukemia +2 more	GPathogenic
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 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 208722	NM_002074.5(GNB1):c.239T>C (p.Ile80Thr)	GNB1 (I80T)	Single nucleotide variant (5 prime UTR variant +1 more)	Cerebral palsy +7 more	GPathogenic/Likely pathogenic

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Items: 49