ClinVar for MedGen (Select 1374697) - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3062186	NM_020988.3(GNAO1):c.945_954del (p.Asn316fs)	GNAO1 (N316fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with involuntary movements	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 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 2153730	NM_020988.3(GNAO1):c.723+9C>T	GNAO1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GConflicting classifications of pathogenicity
Select item 1708498	NM_020988.3(GNAO1):c.982G>T (p.Asp328Tyr)	GNAO1 (D328Y)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with involuntary movements	GLikely pathogenic
Select item 1708071	NM_020988.3(GNAO1):c.723+6975A>G	GNAO1 (K317R)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with involuntary movements	GUncertain significance
Select item 1696533	NM_020988.3(GNAO1):c.303+4852A>G	GNAO1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 17 +1 more	GUncertain significance
Select item 1679695	NM_020988.3(GNAO1):c.304-19275T>C	GNAO1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with involuntary movements +1 more	GUncertain significance
Select item 1353146	NM_020988.3(GNAO1):c.479T>C (p.Leu160Pro)	GNAO1 (L160P)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 17 +2 more	GUncertain significance
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 1333550	NM_020988.3(GNAO1):c.748C>T (p.Leu250Phe)	GNAO1 (L250F)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 17 +1 more	GConflicting classifications of pathogenicity
Select item 1299575	NM_020988.3(GNAO1):c.844T>C (p.Ser282Pro)	GNAO1 (S282P)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with involuntary movements	GLikely pathogenic
Select item 1247516	NM_020988.3(GNAO1):c.464+22T>C	GNAO1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1064445	NM_020988.3(GNAO1):c.723+2T>A	GNAO1	Single nucleotide variant (splice donor variant)	Neurodevelopmental disorder with involuntary movements	GPathogenic
Select item 1012174	NM_020988.3(GNAO1):c.817G>T (p.Asp273Tyr)	GNAO1 (D273Y)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 17 +1 more	GLikely pathogenic
Select item 1012173	NM_020988.3(GNAO1):c.810C>A (p.Asn270Lys)	GNAO1 (N270K)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 17 +1 more	GLikely pathogenic
Select item 1012172	NM_020988.3(GNAO1):c.470T>C (p.Leu157Pro)	GNAO1 (L157P)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 17 +1 more	GLikely pathogenic
Select item 1012171	NM_020988.3(GNAO1):c.687C>G (p.Ser229Arg)	GNAO1 (S229R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 17	GLikely pathogenic
Select item 975404	NM_020988.3(GNAO1):c.973T>G (p.Cys325Gly)	GNAO1 (C325G)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 17 +1 more	GUncertain significance
Select item 915356	NM_020988.3(GNAO1):c.448A>C (p.Asn150His)	GNAO1 (N150H)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with involuntary movements +3 more	GConflicting classifications of pathogenicity
Select item 851622	NM_020988.3(GNAO1):c.856A>T (p.Ile286Phe)	GNAO1 (I286F)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 17 +2 more	GUncertain significance
Select item 689763	NM_020988.3(GNAO1):c.736G>C (p.Glu246Gln)	GNAO1 (E246Q)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 17 +1 more	GLikely pathogenic
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 585942	NM_020988.3(GNAO1):c.513C>T (p.Thr171=)	GNAO1	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
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 522843	NM_020988.3(GNAO1):c.662C>A (p.Ala221Asp)	GNAO1 (A221D)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with involuntary movements	GLikely pathogenic
Select item 461357	NM_020988.3(GNAO1):c.811A>G (p.Lys271Glu)	GNAO1 (K271E)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
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 427730	NM_020988.3(GNAO1):c.737A>G (p.Glu246Gly)	GNAO1 (E246G)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with involuntary movements	GPathogenic
Select item 427726	NM_020988.3(GNAO1):c.625C>G (p.Arg209Gly)	GNAO1 (R209G)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with involuntary movements	GPathogenic
Select item 426965	NM_020988.3(GNAO1):c.724-8G>A	GNAO1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with involuntary movements +5 more	GPathogenic/Likely pathogenic
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 374381	NM_020988.3(GNAO1):c.692A>G (p.Tyr231Cys)	GNAO1 (Y231C)	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 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 208777	NM_020988.3(GNAO1):c.736G>A (p.Glu246Lys)	GNAO1 (E246K)	Single nucleotide variant (missense variant)	GNAO1-related developmental delay-seizures-movement disorder spectrum +6 more	GPathogenic
Select item 208677	NM_020988.3(GNAO1):c.626G>A (p.Arg209His)	GNAO1 (R209H)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with involuntary movements +3 more	GPathogenic
Select item 66115	NM_020988.3(GNAO1):c.607G>A (p.Gly203Arg)	GNAO1 (G203R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 17 +5 more	GPathogenic
Select item 66113	NM_020988.3(GNAO1):c.521A>G (p.Asp174Gly)	GNAO1 (D174G)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with involuntary movements +1 more	GPathogenic

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Links from MedGen

Items: 41