ClinVar for Gene (Select 2775) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235074	NM_020988.3(GNAO1):c.1054G>A (p.Gly352Ser)	GNAO1 (G352S)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with involuntary movements +1 more	GLikely pathogenic
Select item 3068748	NM_020988.3(GNAO1):c.723+3965C>T	GNAO1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3064729	NM_020988.3(GNAO1):c.518A>T (p.Gln173Leu)	GNAO1 (Q173L)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with involuntary movements	GUncertain significance
Select item 3063467	GRCh37/hg19 16q12.2-22.1(chr16:55329260-67180113)x1	ADGRG1, ADGRG3 +85 more	Copy number loss	not specified	GPathogenic
Select item 3063417	GRCh37/hg19 16q12.2(chr16:56231782-56291665)x3	GNAO1	Copy number gain	not specified	GUncertain significance
Select item 3062186	NM_020988.3(GNAO1):c.945_954del (p.Asn316fs)	GNAO1 (N316fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with involuntary movements	GUncertain significance
Select item 3058039	NM_020988.3(GNAO1):c.723+6952G>A	GNAO1	Single nucleotide variant (synonymous variant +1 more)	GNAO1-related disorder	GLikely benign
Select item 3050438	NM_020988.3(GNAO1):c.723+6928G>A	GNAO1	Single nucleotide variant (synonymous variant +1 more)	GNAO1-related disorder	GLikely benign
Select item 3030082	NM_020988.3(GNAO1):c.723+6985C>A	GNAO1 (Y320*)	Single nucleotide variant (nonsense +1 more)	GNAO1-related disorder	GLikely benign
Select item 3027093	NM_020988.3(GNAO1):c.555C>T (p.Ile185=)	GNAO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006929	NM_020988.3(GNAO1):c.594-10C>T	GNAO1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 3006599	NM_020988.3(GNAO1):c.96A>G (p.Lys32=)	GNAO1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 3003323	NM_020988.3(GNAO1):c.555C>A (p.Ile185=)	GNAO1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 3002828	NM_020988.3(GNAO1):c.728G>A (p.Arg243His)	GNAO1 (R243H)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2991834	NM_020988.3(GNAO1):c.724-10G>A	GNAO1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2989469	NM_020988.3(GNAO1):c.594-20C>T	GNAO1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2988258	NM_020988.3(GNAO1):c.9T>C (p.Cys3=)	GNAO1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2987536	NM_020988.3(GNAO1):c.878-18T>C	GNAO1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2972593	NM_020988.3(GNAO1):c.498C>G (p.Ala166=)	GNAO1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2966319	NM_020988.3(GNAO1):c.84C>T (p.Ile28=)	GNAO1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2918684	NM_020988.3(GNAO1):c.469C>T (p.Leu157=)	GNAO1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2903707	NM_020988.3(GNAO1):c.1009G>A (p.Asp337Asn)	GNAO1 (D337N)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2882779	NM_020988.3(GNAO1):c.1044C>G (p.Leu348=)	GNAO1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2879153	NM_020988.3(GNAO1):c.870A>T (p.Glu290Asp)	GNAO1 (E290D)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2875024	NM_020988.3(GNAO1):c.196G>A (p.Val66Met)	GNAO1 (V66M)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2874158	NM_020988.3(GNAO1):c.957A>G (p.Ile319Met)	GNAO1 (I319M)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2871250	NM_020988.3(GNAO1):c.464+14dup	GNAO1	Duplication (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2860706	NM_020988.3(GNAO1):c.614A>T (p.Gln205Leu)	GNAO1 (Q205L)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2858863	NM_020988.3(GNAO1):c.303+9C>T	GNAO1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2852767	NM_020988.3(GNAO1):c.387G>A (p.Met129Ile)	GNAO1 (M129I)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2852723	NM_020988.3(GNAO1):c.878-13T>C	GNAO1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2846724	NM_020988.3(GNAO1):c.303+13G>A	GNAO1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2846381	NM_020988.3(GNAO1):c.537G>A (p.Arg179=)	GNAO1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2838019	NM_020988.3(GNAO1):c.390G>A (p.Arg130=)	GNAO1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2837462	NM_020988.3(GNAO1):c.168C>T (p.Ile56=)	GNAO1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2836661	NM_020988.3(GNAO1):c.118+9C>T	GNAO1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2828814	NM_020988.3(GNAO1):c.465-11G>T	GNAO1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2825827	NM_020988.3(GNAO1):c.807_808delinsAC (p.Asn270His)	GNAO1 (N270H)	Indel (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 2824114	NM_020988.3(GNAO1):c.133G>T (p.Gly45Ter)	GNAO1 (G45*)	Single nucleotide variant (nonsense)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 2824087	NM_020988.3(GNAO1):c.570C>T (p.Phe190=)	GNAO1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2814517	NM_020988.3(GNAO1):c.118+20C>T	GNAO1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2813864	NM_020988.3(GNAO1):c.681G>T (p.Ala227=)	GNAO1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2813289	NM_020988.3(GNAO1):c.820C>A (p.Leu274Ile)	GNAO1 (L274I)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2807891	NM_020988.3(GNAO1):c.484C>G (p.Arg162Gly)	GNAO1 (R162G)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2807287	NM_020988.3(GNAO1):c.434G>A (p.Arg145Gln)	GNAO1 (R145Q)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2806705	NM_020988.3(GNAO1):c.593+9C>T	GNAO1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2805103	NM_020988.3(GNAO1):c.319G>C (p.Val107Leu)	GNAO1 (V107L)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2804854	NM_020988.3(GNAO1):c.563C>T (p.Thr188Ile)	GNAO1 (T188I)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2803455	NM_020988.3(GNAO1):c.723+14G>C	GNAO1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2802914	NM_020988.3(GNAO1):c.990_992del (p.Asn331del)	GNAO1 (N331del)	Deletion (inframe_deletion)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2802805	NM_020988.3(GNAO1):c.303+7C>A	GNAO1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2800566	NM_020988.3(GNAO1):c.534C>T (p.Thr178=)	GNAO1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2799386	NM_020988.3(GNAO1):c.497C>T (p.Ala166Val)	GNAO1 (A166V)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2797315	NM_020988.3(GNAO1):c.135A>G (p.Gly45=)	GNAO1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2796119	NM_020988.3(GNAO1):c.768C>T (p.Asn256=)	GNAO1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2778366	NM_020988.3(GNAO1):c.501C>A (p.Asp167Glu)	GNAO1 (D167E)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2772309	NM_020988.3(GNAO1):c.723+20dup	GNAO1	Duplication (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GBenign
Select item 2767766	NM_020988.3(GNAO1):c.818A>G (p.Asp273Gly)	GNAO1 (D273G)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely pathogenic
Select item 2764744	NM_020988.3(GNAO1):c.262A>T (p.Met88Leu)	GNAO1 (M88L)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2764519	NM_020988.3(GNAO1):c.593+1G>A	GNAO1	Single nucleotide variant (splice donor variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely pathogenic
Select item 2759489	NM_020988.3(GNAO1):c.631A>C (p.Lys211Gln)	GNAO1 (K211Q)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 2755617	NM_020988.3(GNAO1):c.594-6C>T	GNAO1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2748744	NM_020988.3(GNAO1):c.357C>A (p.Pro119=)	GNAO1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2745079	NM_020988.3(GNAO1):c.843G>A (p.Lys281=)	GNAO1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2744165	NM_020988.3(GNAO1):c.715G>A (p.Glu239Lys)	GNAO1 (E239K)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2740703	NM_020988.3(GNAO1):c.1053C>T (p.Cys351=)	GNAO1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2728447	NM_020988.3(GNAO1):c.464+12A>G	GNAO1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2726302	NM_020988.3(GNAO1):c.756C>T (p.Asp252=)	GNAO1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2722796	NM_020988.3(GNAO1):c.161+14G>T	GNAO1, GNAO1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2707945	NM_020988.3(GNAO1):c.723+20C>T	GNAO1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2705877	NM_020988.3(GNAO1):c.398_402dup (p.Ser135fs)	GNAO1 (S135fs)	Duplication (frameshift variant)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 2704742	NM_020988.3(GNAO1):c.764G>A (p.Cys255Tyr)	GNAO1 (C255Y)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2703762	NM_020988.3(GNAO1):c.102G>T (p.Val34=)	GNAO1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2698912	NM_020988.3(GNAO1):c.622G>C (p.Glu208Gln)	GNAO1 (E208Q)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2698697	NM_020988.3(GNAO1):c.22GAG[1] (p.Glu9del)	GNAO1 (E9del)	Microsatellite (inframe_deletion)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2698671	NM_020988.3(GNAO1):c.728G>T (p.Arg243Leu)	GNAO1 (R243L)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2696873	NM_020988.3(GNAO1):c.259G>T (p.Ala87Ser)	GNAO1 (A87S)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2694337	NM_020988.3(GNAO1):c.804C>T (p.Phe268=)	GNAO1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2692996	NM_020988.3(GNAO1):c.659C>T (p.Thr220Met)	GNAO1 (T220M)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2687758	NM_020988.3(GNAO1):c.616C>G (p.Arg206Gly)	GNAO1 (R206G)	Single nucleotide variant (missense variant)	Movement disorder	GLikely pathogenic
Select item 2663094	NM_020988.3(GNAO1):c.256C>T (p.Arg86Trp)	GNAO1 (R86W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2646544	NM_020988.3(GNAO1):c.723+6954G>A	GNAO1 (S310N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2646543	NM_020988.3(GNAO1):c.723+6946G>A	GNAO1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2646542	NM_020988.3(GNAO1):c.723+6925C>T	GNAO1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2646541	NM_020988.3(GNAO1):c.161+20757G>A	GNAO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2646540	NM_020988.3(GNAO1):c.161+20682C>T	GNAO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2636599	NM_020988.3(GNAO1):c.723+3977C>T	GNAO1 (R243C)	Single nucleotide variant (missense variant +1 more)	GNAO1-related disorder	GUncertain significance
Select item 2632300	NM_020988.3(GNAO1):c.464+1G>T	GNAO1	Single nucleotide variant (splice donor variant)	GNAO1-related disorder	GUncertain significance
Select item 2629073	NM_020988.3(GNAO1):c.280G>A (p.Glu94Lys)	GNAO1 (E94K)	Single nucleotide variant (missense variant)	GNAO1-related disorder	GUncertain significance
Select item 2627783	NM_020988.3(GNAO1):c.474C>G (p.Asp158Glu)	GNAO1 (D158E)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 17	GUncertain significance
Select item 2584381	NM_020988.3(GNAO1):c.4G>C (p.Gly2Arg)	GNAO1 (G2R)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with involuntary movements	GLikely pathogenic
Select item 2580778	NM_020988.3(GNAO1):c.1046G>A (p.Arg349Gln)	GNAO1 (R349Q)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GConflicting classifications of pathogenicity
Select item 2578317	NM_020988.3(GNAO1):c.723+1G>T	GNAO1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2578218	NM_020988.3(GNAO1):c.594G>T (p.Arg198Ser)	GNAO1 (R198S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2500270	NM_020988.3(GNAO1):c.57T>G (p.Ile19Met)	GNAO1 (I19M)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with involuntary movements +1 more	GLikely pathogenic
Select item 2499605	NM_020988.3(GNAO1):c.124G>C (p.Gly42Arg)	GNAO1 (G42R)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with involuntary movements	GPathogenic
Select item 2498665	NM_020988.3(GNAO1):c.617G>A (p.Arg206Gln)	GNAO1 (R206Q)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2444689	NM_020988.3(GNAO1):c.986C>T (p.Thr329Met)	GNAO1 (T329M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432199	NM_020988.3(GNAO1):c.170A>G (p.His57Arg)	GNAO1 (H57R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2426640	NC_000016.9:g.(?_56226148)_(58768132_?)del	ADGRG1, ADGRG3 +54 more	Deletion	Bardet-Biedl syndrome +1 more	GPathogenic

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