"GeneDx"[submitter] AND "GNAO1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1205451	NC_000016.10:g.56191028G>A	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 461353	NM_020988.3(GNAO1):c.27G>A (p.Glu9=)	GNAO1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
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 241367	NM_020988.3(GNAO1):c.75G>A (p.Glu25=)	GNAO1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GLikely benign
Select item 287466	NM_020988.3(GNAO1):c.118G>C (p.Gly40Arg)	GNAO1 (G40R)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 280526	NM_020988.3(GNAO1):c.118G>T (p.Gly40Trp)	GNAO1 (G40W)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GPathogenic
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 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 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 1389555	NM_020988.3(GNAO1):c.155A>G (p.Gln52Arg)	GNAO1 (Q52R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 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 1214227	NM_020988.3(GNAO1):c.162-48A>G	GNAO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 695390	NM_020988.3(GNAO1):c.186C>T (p.Ser62=)	GNAO1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 697955	NM_020988.3(GNAO1):c.195C>T (p.Asp65=)	GNAO1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GLikely benign
Select item 3340582	NM_020988.3(GNAO1):c.220T>G (p.Tyr74Asp)	GNAO1 (Y74D)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1338887	NM_020988.3(GNAO1):c.232A>C (p.Ile78Leu)	GNAO1 (I78L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 530552	NM_020988.3(GNAO1):c.252C>T (p.Ile84=)	GNAO1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GLikely benign
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 450553	NM_020988.3(GNAO1):c.262A>G (p.Met88Val)	GNAO1 (M88V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2109047	NM_020988.3(GNAO1):c.275G>A (p.Gly92Asp)	GNAO1 (G92D)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1208260	NM_020988.3(GNAO1):c.284A>G (p.Tyr95Cys)	GNAO1 (Y95C)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 570873	NM_020988.3(GNAO1):c.286G>A (p.Gly96Ser)	GNAO1 (G96S)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GBenign/Likely benign
Select item 1056470	NM_020988.3(GNAO1):c.290A>G (p.Asp97Gly)	GNAO1 (D97G)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 1254653	NM_020988.3(GNAO1):c.303+190dup	GNAO1	Duplication (intron variant)	not provided	GLikely benign
Select item 1208104	NM_020988.3(GNAO1):c.304-212A>G	GNAO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1191180	NM_020988.3(GNAO1):c.304-105T>C	GNAO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1220511	NM_020988.3(GNAO1):c.304-95C>T	GNAO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1707928	NM_020988.3(GNAO1):c.326A>T (p.Asp109Val)	GNAO1 (D109V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1806538	NM_020988.3(GNAO1):c.358T>G (p.Phe120Val)	GNAO1 (F120V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 415872	NM_020988.3(GNAO1):c.414A>G (p.Gln138=)	GNAO1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 976398	NM_020988.3(GNAO1):c.428G>A (p.Arg143Gln)	GNAO1 (R143Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 794339	NM_020988.3(GNAO1):c.450C>T (p.Asn150=)	GNAO1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GBenign/Likely benign
Select item 1247516	NM_020988.3(GNAO1):c.464+22T>C	GNAO1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 1260119	NM_020988.3(GNAO1):c.464+178A>C	GNAO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190658	NM_020988.3(GNAO1):c.465-158G>A	GNAO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1246837	NM_020988.3(GNAO1):c.465-146T>C	GNAO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268688	NM_020988.3(GNAO1):c.465-140C>T	GNAO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 530581	NM_020988.3(GNAO1):c.474C>T (p.Asp158=)	GNAO1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GBenign/Likely benign
Select item 956578	NM_020988.3(GNAO1):c.496G>A (p.Ala166Thr)	GNAO1 (A166T)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GBenign/Likely benign
Select item 585942	NM_020988.3(GNAO1):c.513C>T (p.Thr171=)	GNAO1	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with involuntary movements +5 more	GBenign
Select item 1024118	NM_020988.3(GNAO1):c.529C>T (p.Arg177Ter)	GNAO1 (R177*)	Single nucleotide variant (nonsense)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GConflicting classifications of pathogenicity
Select item 1943224	NM_020988.3(GNAO1):c.530G>A (p.Arg177Gln)	GNAO1 (R177Q)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GConflicting classifications of pathogenicity
Select item 1168528	NM_020988.3(GNAO1):c.593+18C>T	GNAO1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GBenign
Select item 1211744	NM_020988.3(GNAO1):c.593+48C>T	GNAO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1192916	NM_020988.3(GNAO1):c.593+114G>A	GNAO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1235417	NM_020988.3(GNAO1):c.593+117C>T	GNAO1	Single nucleotide variant (intron variant)	not provided	GBenign
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 545591	NM_020988.3(GNAO1):c.604G>A (p.Val202Ile)	GNAO1 (V202I)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with involuntary movements +2 more	GConflicting classifications of pathogenicity
Select item 700035	NM_020988.3(GNAO1):c.606C>T (p.Val202=)	GNAO1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GLikely benign
Select item 66115	NM_020988.3(GNAO1):c.607G>A (p.Gly203Arg)	GNAO1 (G203R)	Single nucleotide variant (missense variant)	Abnormality of the nervous system +5 more	GPathogenic
Select item 373477	NM_020988.3(GNAO1):c.620C>A (p.Ser207Tyr)	GNAO1 (S207Y)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 265350	NM_020988.3(GNAO1):c.625C>T (p.Arg209Cys)	GNAO1 (R209C)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with involuntary movements +5 more	GPathogenic
Select item 208677	NM_020988.3(GNAO1):c.626G>A (p.Arg209His)	GNAO1 (R209H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GPathogenic
Select item 432130	NM_020988.3(GNAO1):c.649G>A (p.Glu217Lys)	GNAO1 (E217K)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GPathogenic/Likely pathogenic
Select item 241366	NM_020988.3(GNAO1):c.654C>T (p.Asp218=)	GNAO1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GBenign/Likely benign
Select item 695526	NM_020988.3(GNAO1):c.660G>A (p.Thr220=)	GNAO1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GBenign/Likely benign
Select item 211088	NM_020988.3(GNAO1):c.680C>T (p.Ala227Val)	GNAO1 (A227V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 17 +3 more	GPathogenic/Likely pathogenic
Select item 427060	NM_020988.3(GNAO1):c.683T>C (p.Leu228Pro)	GNAO1 (L228P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 415876	NM_020988.3(GNAO1):c.687C>T (p.Ser229=)	GNAO1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 374381	NM_020988.3(GNAO1):c.692A>G (p.Tyr231Cys)	GNAO1 (Y231C)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1723696	NM_020988.3(GNAO1):c.694G>A (p.Asp232Asn)	GNAO1 (D232N)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 420523	NM_020988.3(GNAO1):c.709G>A (p.Glu237Lys)	GNAO1 (E237K)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +3 more	GPathogenic/Likely pathogenic
Select item 2578317	NM_020988.3(GNAO1):c.723+1G>T	GNAO1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1212656	NM_020988.3(GNAO1):c.723+156G>A	GNAO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1329613	NM_020988.3(GNAO1):c.723+275_723+277del	GNAO1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1230617	NM_020988.3(GNAO1):c.723+3697_723+3706del	GNAO1	Deletion (intron variant)	not provided	GBenign
Select item 1219980	NM_020988.3(GNAO1):c.723+3765C>T	GNAO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1217907	NM_020988.3(GNAO1):c.723+3851C>A	GNAO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1181755	NM_020988.3(GNAO1):c.723+3914C>T	GNAO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3367633	NM_020988.3(GNAO1):c.723+4073T>C	GNAO1 (F275L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1722771	NM_020988.3(GNAO1):c.723+4098C>A	GNAO1 (P283Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 585944	NM_020988.3(GNAO1):c.723+4099G>A	GNAO1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 1224667	NM_020988.3(GNAO1):c.723+4327A>G	GNAO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1189843	NM_020988.3(GNAO1):c.723+4358T>G	GNAO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1215815	NM_020988.3(GNAO1):c.723+4413T>C	GNAO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1263844	NM_020988.3(GNAO1):c.723+6641_723+6643dup	GNAO1	Duplication (intron variant)	not provided	GBenign
Select item 1181527	NM_020988.3(GNAO1):c.723+6643dup	GNAO1	Duplication (intron variant)	not provided	GBenign
Select item 1180992	NM_020988.3(GNAO1):c.723+6642_723+6643dup	GNAO1	Duplication (intron variant)	not provided	GBenign
Select item 1178312	NM_020988.3(GNAO1):c.723+6824C>T	GNAO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 585945	NM_020988.3(GNAO1):c.723+6976A>G	GNAO1	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 1190182	NM_020988.3(GNAO1):c.723+7134G>A	GNAO1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1268338	NM_020988.3(GNAO1):c.723+7136C>T	GNAO1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1189991	NM_020988.3(GNAO1):c.724-7163C>A	GNAO1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 530577	NM_020988.3(GNAO1):c.724-9C>T	GNAO1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GBenign
Select item 426965	NM_020988.3(GNAO1):c.724-8G>A	GNAO1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 17 +4 more	GPathogenic/Likely pathogenic
Select item 427004	NM_020988.3(GNAO1):c.725A>C (p.Asn242Thr)	GNAO1 (N242T)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 208777	NM_020988.3(GNAO1):c.736G>A (p.Glu246Lys)	GNAO1 (E246K)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 17 +6 more	GPathogenic
Select item 2796119	NM_020988.3(GNAO1):c.768C>T (p.Asn256=)	GNAO1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1699573	NM_020988.3(GNAO1):c.789C>G (p.Thr263=)	GNAO1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1012173	NM_020988.3(GNAO1):c.810C>A (p.Asn270Lys)	GNAO1 (N270K)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 415877	NM_020988.3(GNAO1):c.828C>T (p.Gly276=)	GNAO1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign

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