GNAO1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1184380	Single allele	SLC38A7, SLC6A2 +519 more	Duplication	not provided	GPathogenic
Select item 155685	GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3	LOC130059125, LOC130059126 +675 more	Copy number gain	See cases	GPathogenic
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	LOC130059149, LOC130059150 +1738 more	Copy number gain	See cases	GPathogenic
Select item 1696636	Single allele	IRX5, IRX6 +189 more	Deletion	not provided	GPathogenic
Select item 144256	GRCh38/hg38 16q12.2-21(chr16:55457477-63841622)x1	ADGRG1, ADGRG3 +244 more	Copy number loss	See cases	GPathogenic
Select item 1205451	NR_027078.2(GNAO1-DT):n.67C>T	GNAO1, GNAO1-DT	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 1283647	NC_000016.10:g.56191113G>A	GNAO1	Single nucleotide variant	not provided	GBenign
Select item 1238856	NC_000016.10:g.56191124G>A	GNAO1	Single nucleotide variant	not provided	GBenign
Select item 1200548	NC_000016.10:g.56191213G>C	GNAO1	Single nucleotide variant	not provided	GLikely benign
Select item 1280694	NC_000016.10:g.56191219G>T	GNAO1	Single nucleotide variant	not provided	GBenign
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 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 1802165	NM_020988.3(GNAO1):c.17G>T (p.Ser6Ile)	GNAO1 (S6I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 17	GPathogenic
Select item 461352	NM_020988.3(GNAO1):c.21A>G (p.Ala7=)	GNAO1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
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 1088967	NM_020988.3(GNAO1):c.24G>A (p.Glu8=)	GNAO1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 461353	NM_020988.3(GNAO1):c.27G>A (p.Glu9=)	GNAO1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 1594730	NM_020988.3(GNAO1):c.33C>T (p.Ala11=)	GNAO1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 794714	NM_020988.3(GNAO1):c.36C>T (p.Ala12=)	GNAO1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 493183	NM_020988.3(GNAO1):c.38T>C (p.Leu13Pro)	GNAO1 (L13P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1091992	NM_020988.3(GNAO1):c.54G>A (p.Ala18=)	GNAO1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GConflicting classifications of pathogenicity
Select item 2117211	NM_020988.3(GNAO1):c.56T>A (p.Ile19Asn)	GNAO1 (I19N)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	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 946388	NM_020988.3(GNAO1):c.58G>A (p.Glu20Lys)	GNAO1 (E20K)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GConflicting classifications of pathogenicity
Select item 530650	NM_020988.3(GNAO1):c.66C>T (p.Asn22=)	GNAO1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1721121	NM_020988.3(GNAO1):c.67C>T (p.Leu23Phe)	GNAO1 (L23F)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 241367	NM_020988.3(GNAO1):c.75G>A (p.Glu25=)	GNAO1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1504443	NM_020988.3(GNAO1):c.76G>A (p.Asp26Asn)	GNAO1 (D26N)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
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 1056359	NM_020988.3(GNAO1):c.89C>T (p.Ala30Val)	GNAO1 (A30V)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1766177	NM_020988.3(GNAO1):c.91G>T (p.Ala31Ser)	GNAO1 (A31S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 1954015	NM_020988.3(GNAO1):c.111C>T (p.Leu37=)	GNAO1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1690704	NM_020988.3(GNAO1):c.115C>T (p.Leu39Phe)	GNAO1 (L39F)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 521814	NM_020988.3(GNAO1):c.116T>C (p.Leu39Pro)	GNAO1 (L39P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1166416	NM_020988.3(GNAO1):c.117C>G (p.Leu39=)	GNAO1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GBenign
Select item 1001265	NM_020988.3(GNAO1):c.117C>T (p.Leu39=)	GNAO1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 666297	NM_020988.3(GNAO1):c.118G>A (p.Gly40Arg)	GNAO1 (G40R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 17	GLikely pathogenic
Select item 287466	NM_020988.3(GNAO1):c.118G>C (p.Gly40Arg)	GNAO1 (G40R)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GConflicting classifications of pathogenicity
Select item 280526	NM_020988.3(GNAO1):c.118G>T (p.Gly40Trp)	GNAO1 (G40W)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 2030255	NM_020988.3(GNAO1):c.118+3A>G	GNAO1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 699025	NM_020988.3(GNAO1):c.118+8C>T	GNAO1	Single nucleotide variant (intron 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 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 2121455	NM_020988.3(GNAO1):c.118+20C>A	GNAO1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1206561	NM_020988.3(GNAO1):c.118+32G>C	GNAO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195601	NM_020988.3(GNAO1):c.118+52C>G	GNAO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2038509	NM_020988.3(GNAO1):c.119-18C>T	GNAO1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1564104	NM_020988.3(GNAO1):c.119-17T>C	GNAO1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1590092	NM_020988.3(GNAO1):c.119-14C>G	GNAO1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1653937	NM_020988.3(GNAO1):c.119-12G>A	GNAO1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1561326	NM_020988.3(GNAO1):c.119-10G>A	GNAO1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GBenign
Select item 530583	NM_020988.3(GNAO1):c.119-5A>G	GNAO1	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2121069	NM_020988.3(GNAO1):c.119-2_119-1del	GNAO1	Deletion (splice acceptor variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely pathogenic
Select item 1802972	NM_020988.3(GNAO1):c.119G>C (p.Gly40Ala)	GNAO1 (G40A)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 17	GPathogenic
Select item 587482	NM_020988.3(GNAO1):c.119G>T (p.Gly40Val)	GNAO1 (G40V)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with involuntary movements +1 more	GLikely pathogenic
Select item 280589	NM_020988.3(GNAO1):c.119G>A (p.Gly40Glu)	GNAO1 (G40E)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GPathogenic/Likely pathogenic
Select item 1016656	NM_020988.3(GNAO1):c.121G>A (p.Ala41Thr)	GNAO1 (A41T)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
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 1374497	NM_020988.3(GNAO1):c.124G>A (p.Gly42Arg)	GNAO1 (G42R)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GPathogenic
Select item 1094587	NM_020988.3(GNAO1):c.129A>G (p.Glu43=)	GNAO1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 748098	NM_020988.3(GNAO1):c.132A>G (p.Ser44=)	GNAO1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
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 225047	NM_020988.3(GNAO1):c.133G>C (p.Gly45Arg)	GNAO1 (G45R)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GPathogenic/Likely pathogenic
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 1012170	NM_020988.3(GNAO1):c.136A>G (p.Lys46Glu)	GNAO1 (K46E)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 17	GLikely pathogenic
Select item 1338804	NM_020988.3(GNAO1):c.138A>T (p.Lys46Asn)	GNAO1 (K46N)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with involuntary movements	GLikely pathogenic
Select item 641655	NM_020988.3(GNAO1):c.140G>A (p.Ser47Asn)	GNAO1 (S47N)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GPathogenic
Select item 803255	NM_020988.3(GNAO1):c.143C>A (p.Thr48Asn)	GNAO1 (T48N)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GLikely pathogenic
Select item 435341	NM_020988.3(GNAO1):c.143C>T (p.Thr48Ile)	GNAO1 (T48I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 1313127	NM_020988.3(GNAO1):c.145A>C (p.Ile49Leu)	GNAO1 (I49L)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 1325832	NM_020988.3(GNAO1):c.151A>G (p.Lys51Glu)	GNAO1 (K51E)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 17	GUncertain significance
Select item 530629	NM_020988.3(GNAO1):c.153G>A (p.Lys51=)	GNAO1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2152262	NM_020988.3(GNAO1):c.155A>C (p.Gln52Pro)	GNAO1 (Q52P)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 1389555	NM_020988.3(GNAO1):c.155A>G (p.Gln52Arg)	GNAO1 (Q52R)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GPathogenic/Likely pathogenic
Select item 589987	NM_020988.3(GNAO1):c.156G>A (p.Gln52=)	GNAO1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1187380	NM_020988.3(GNAO1):c.158T>A (p.Met53Lys)	GNAO1 (M53K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 415875	NM_020988.3(GNAO1):c.161+8C>G	GNAO1, GNAO1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 415873	NM_020988.3(GNAO1):c.161+8C>T	GNAO1, GNAO1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GBenign
Select item 1674489	NM_020988.3(GNAO1):c.161+9C>T	GNAO1, GNAO1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1623505	NM_020988.3(GNAO1):c.161+12T>G	GNAO1, GNAO1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1541331	NM_020988.3(GNAO1):c.161+13G>T	GNAO1, GNAO1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	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 2075210	NM_020988.3(GNAO1):c.161+16A>G	GNAO1, GNAO1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1614505	NM_020988.3(GNAO1):c.161+17T>C	GNAO1, GNAO1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GBenign
Select item 1253020	NM_020988.3(GNAO1):c.161+109_161+110dup	GNAO1, GNAO1-AS1	Duplication (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1277245	NM_020988.3(GNAO1):c.161+111CA[14]	GNAO1, GNAO1-AS1	Microsatellite (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1250234	NM_020988.3(GNAO1):c.161+111CA[13]	GNAO1, GNAO1-AS1	Microsatellite (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1245252	NM_020988.3(GNAO1):c.161+111CA[11]	GNAO1, GNAO1-AS1	Microsatellite (non-coding transcript variant +1 more)	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 2646541	NM_020988.3(GNAO1):c.161+20757G>A	GNAO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1214227	NM_020988.3(GNAO1):c.162-48A>G	GNAO1	Single nucleotide variant (intron variant)	not provided	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 2432199	NM_020988.3(GNAO1):c.170A>G (p.His57Arg)	GNAO1 (H57R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1116831	NM_020988.3(GNAO1):c.174A>G (p.Glu58=)	GNAO1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 695390	NM_020988.3(GNAO1):c.186C>T (p.Ser62=)	GNAO1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GLikely benign
Select item 530473	NM_020988.3(GNAO1):c.187G>A (p.Gly63Arg)	GNAO1 (G63R)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 697955	NM_020988.3(GNAO1):c.195C>T (p.Asp65=)	GNAO1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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

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