ClinVar for MedGen (Select 1374697) - ClinVar

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Items: 37

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25843811.	NM_020988.3(GNAO1):c.4G>C (p.Gly2Arg) GRCh37: Chr16:56226151 GRCh38: Chr16:56192239	GNAO1	G2R	Neurodevelopmental disorder with involuntary movements	Likely pathogenic (Aug 17, 2023)	criteria provided, single submitter
Select item 25002702.	NM_020988.3(GNAO1):c.57T>G (p.Ile19Met) GRCh37: Chr16:56226204 GRCh38: Chr16:56192292	GNAO1	I19M	Neurodevelopmental disorder with involuntary movements, Developmental and epileptic encephalopathy, 17, Developmental and epileptic encephalopathy, 17	Likely pathogenic (Feb 9, 2023)	criteria provided, single submitter
Select item 24996053.	NM_020988.3(GNAO1):c.124G>C (p.Gly42Arg) GRCh37: Chr16:56226491 GRCh38: Chr16:56192579	GNAO1	G42R	Neurodevelopmental disorder with involuntary movements	Pathogenic (Apr 20, 2023)	criteria provided, single submitter
Select item 21537304.	NM_020988.3(GNAO1):c.723+9C>T GRCh37: Chr16:56370781 GRCh38: Chr16:56336869	GNAO1		Early infantile epileptic encephalopathy with suppression bursts, Developmental and epileptic encephalopathy, 17, Neurodevelopmental disorder with involuntary movements	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 17084985.	NM_020988.3(GNAO1):c.982G>T (p.Asp328Tyr) GRCh37: Chr16:56388882 GRCh38: Chr16:56354970	GNAO1	D328Y	Neurodevelopmental disorder with involuntary movements	Likely pathogenic (Sep 27, 2022)	criteria provided, single submitter
Select item 17080716.	NM_020988.3(GNAO1):c.723+6975A>G GRCh37: Chr16:56377747 GRCh38: Chr16:56343835	GNAO1	K317R	Neurodevelopmental disorder with involuntary movements	Uncertain significance (Oct 14, 2021)	criteria provided, single submitter
Select item 16965337.	NM_020988.3(GNAO1):c.303+4852A>G GRCh37: Chr16:56314836 GRCh38: Chr16:56280924	GNAO1		Developmental and epileptic encephalopathy, 17, Neurodevelopmental disorder with involuntary movements	Uncertain significance (Aug 12, 2021)	criteria provided, single submitter
Select item 16796958.	NM_020988.3(GNAO1):c.304-19275T>C GRCh37: Chr16:56343268 GRCh38: Chr16:56309356	GNAO1		Developmental and epileptic encephalopathy, 17, Neurodevelopmental disorder with involuntary movements	Uncertain significance (Jun 14, 2021)	criteria provided, single submitter
Select item 13531469.	NM_020988.3(GNAO1):c.479T>C (p.Leu160Pro) GRCh37: Chr16:56368655 GRCh38: Chr16:56334743	GNAO1	L160P	Early infantile epileptic encephalopathy with suppression bursts, Developmental and epileptic encephalopathy, 17, Neurodevelopmental disorder with involuntary movements	Uncertain significance (Jul 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 133880410.	NM_020988.3(GNAO1):c.138A>T (p.Lys46Asn) GRCh37: Chr16:56226505 GRCh38: Chr16:56192593	GNAO1	K46N	Neurodevelopmental disorder with involuntary movements	Likely pathogenic (Jan 25, 2022)	criteria provided, single submitter
Select item 133355011.	NM_020988.3(GNAO1):c.748C>T (p.Leu250Phe) GRCh37: Chr16:56385320 GRCh38: Chr16:56351408	GNAO1	L250F	Developmental and epileptic encephalopathy, 17, Neurodevelopmental disorder with involuntary movements	Conflicting interpretations of pathogenicity (May 4, 2022)	criteria provided, conflicting interpretations
Select item 129957512.	NM_020988.3(GNAO1):c.844T>C (p.Ser282Pro) GRCh37: Chr16:56385416 GRCh38: Chr16:56351504	GNAO1	S282P	Neurodevelopmental disorder with involuntary movements	Likely pathogenic (Oct 5, 2021)	criteria provided, single submitter
Select item 124751613.	NM_020988.3(GNAO1):c.464+22T>C GRCh37: Chr16:56362725 GRCh38: Chr16:56328813	GNAO1		Developmental and epileptic encephalopathy, 17, Neurodevelopmental disorder with involuntary movements, not provided	Benign (Aug 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 106444514.	NM_020988.3(GNAO1):c.723+2T>A GRCh37: Chr16:56370774 GRCh38: Chr16:56336862	GNAO1		Neurodevelopmental disorder with involuntary movements	Pathogenic (Jun 2, 2021)	no assertion criteria provided
Select item 101217415.	NM_020988.3(GNAO1):c.817G>T (p.Asp273Tyr) GRCh37: Chr16:56385389 GRCh38: Chr16:56351477	GNAO1	D273Y	Developmental and epileptic encephalopathy, 17, Neurodevelopmental disorder with involuntary movements	Likely pathogenic (Feb 3, 2021)	no assertion criteria provided
Select item 101217316.	NM_020988.3(GNAO1):c.810C>A (p.Asn270Lys) GRCh37: Chr16:56385382 GRCh38: Chr16:56351470	GNAO1	N270K	Developmental and epileptic encephalopathy, 17, Neurodevelopmental disorder with involuntary movements	Likely pathogenic (Feb 3, 2021)	no assertion criteria provided
Select item 101217217.	NM_020988.3(GNAO1):c.470T>C (p.Leu157Pro) GRCh37: Chr16:56368646 GRCh38: Chr16:56334734	GNAO1	L157P	Developmental and epileptic encephalopathy, 17, Neurodevelopmental disorder with involuntary movements	Likely pathogenic (Feb 3, 2021)	no assertion criteria provided
Select item 101217118.	NM_020988.3(GNAO1):c.687C>G (p.Ser229Arg) GRCh37: Chr16:56370736 GRCh38: Chr16:56336824	GNAO1	S229R	Developmental and epileptic encephalopathy, 17	Likely pathogenic (Aug 14, 2023)	criteria provided, single submitter
Select item 91535619.	NM_020988.3(GNAO1):c.448A>C (p.Asn150His) GRCh37: Chr16:56362687 GRCh38: Chr16:56328775	GNAO1	N150H	Neurodevelopmental disorder with involuntary movements, Inborn genetic diseases, not specified, not provided	Conflicting interpretations of pathogenicity (Jun 1, 2023)	criteria provided, conflicting interpretations
Select item 85162220.	NM_020988.3(GNAO1):c.856A>T (p.Ile286Phe) GRCh37: Chr16:56385428 GRCh38: Chr16:56351516	GNAO1	I286F	Neurodevelopmental disorder with involuntary movements, Developmental and epileptic encephalopathy, 17, Early infantile epileptic encephalopathy with suppression bursts	Uncertain significance (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 68976321.	NM_020988.3(GNAO1):c.736G>C (p.Glu246Gln) GRCh37: Chr16:56385308 GRCh38: Chr16:56351396	GNAO1	E246Q	Developmental and epileptic encephalopathy, 17, Neurodevelopmental disorder with involuntary movements	Likely pathogenic (Dec 31, 2017)	criteria provided, single submitter
Select item 58748222.	NM_020988.3(GNAO1):c.119G>T (p.Gly40Val) GRCh37: Chr16:56226486 GRCh38: Chr16:56192574	GNAO1	G40V	Neurodevelopmental disorder with involuntary movements, Developmental and epileptic encephalopathy, 1	Likely pathogenic (Aug 7, 2018)	criteria provided, single submitter
Select item 58594223.	NM_020988.3(GNAO1):c.513C>T (p.Thr171=) GRCh37: Chr16:56368689 GRCh38: Chr16:56334777	GNAO1		Neurodevelopmental disorder with involuntary movements, Inborn genetic diseases, Early infantile epileptic encephalopathy with suppression bursts, Developmental and epileptic encephalopathy, 17, not provided	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 54559124.	NM_020988.3(GNAO1):c.604G>A (p.Val202Ile) GRCh37: Chr16:56370653 GRCh38: Chr16:56336741	GNAO1	V202I	Neurodevelopmental disorder with involuntary movements, GNAO1-Related Condition, not provided	Conflicting interpretations of pathogenicity (May 11, 2020)	criteria provided, conflicting interpretations
Select item 52284325.	NM_020988.3(GNAO1):c.662C>A (p.Ala221Asp) GRCh37: Chr16:56370711 GRCh38: Chr16:56336799	GNAO1	A221D	Neurodevelopmental disorder with involuntary movements	Likely pathogenic (Jun 15, 2018)	criteria provided, multiple submitters, no conflicts
Select item 46135726.	NM_020988.3(GNAO1):c.811A>G (p.Lys271Glu) GRCh37: Chr16:56385383 GRCh38: Chr16:56351471	GNAO1	K271E	Early infantile epileptic encephalopathy with suppression bursts	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 42773027.	NM_020988.3(GNAO1):c.737A>G (p.Glu246Gly) GRCh37: Chr16:56385309 GRCh38: Chr16:56351397	GNAO1	E246G	Neurodevelopmental disorder with involuntary movements	Pathogenic (Jun 2, 2017)	no assertion criteria provided
Select item 42772628.	NM_020988.3(GNAO1):c.625C>G (p.Arg209Gly) GRCh37: Chr16:56370674 GRCh38: Chr16:56336762	GNAO1	R209G	Neurodevelopmental disorder with involuntary movements	Pathogenic (Jun 2, 2017)	no assertion criteria provided
Select item 42696529.	NM_020988.3(GNAO1):c.724-8G>A GRCh37: Chr16:56385288 GRCh38: Chr16:56351376	GNAO1		Inborn genetic diseases, not provided, Neurodevelopmental disorder with involuntary movements, Early infantile epileptic encephalopathy with suppression bursts, Developmental and epileptic encephalopathy, 17	Pathogenic/Likely pathogenic (Jul 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 42052330.	NM_020988.3(GNAO1):c.709G>A (p.Glu237Lys) GRCh37: Chr16:56370758 GRCh38: Chr16:56336846	GNAO1	E237K	Early infantile epileptic encephalopathy with suppression bursts, Developmental and epileptic encephalopathy, 17, Neurodevelopmental disorder with involuntary movements, not provided	Pathogenic/Likely pathogenic (Jul 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 37438131.	NM_020988.3(GNAO1):c.692A>G (p.Tyr231Cys) GRCh37: Chr16:56370741 GRCh38: Chr16:56336829	GNAO1	Y231C	not provided	Pathogenic (May 18, 2018)	criteria provided, single submitter
Select item 26535032.	NM_020988.3(GNAO1):c.625C>T (p.Arg209Cys) GRCh37: Chr16:56370674 GRCh38: Chr16:56336762	GNAO1	R209C	GNAO1-Related Condition, Inborn genetic diseases, Neurodevelopmental disorder with involuntary movements, Developmental and epileptic encephalopathy, 17, Early infantile epileptic encephalopathy with suppression bursts, not provided	Pathogenic (Apr 10, 2023)	criteria provided, multiple submitters, no conflicts
Select item 21108833.	NM_020988.3(GNAO1):c.680C>T (p.Ala227Val) GRCh37: Chr16:56370729 GRCh38: Chr16:56336817	GNAO1	A227V	Early infantile epileptic encephalopathy with suppression bursts, Developmental and epileptic encephalopathy, 17, Neurodevelopmental disorder with involuntary movements, Developmental and epileptic encephalopathy, 17, not provided	Pathogenic/Likely pathogenic (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 20877734.	NM_020988.3(GNAO1):c.736G>A (p.Glu246Lys) GRCh37: Chr16:56385308 GRCh38: Chr16:56351396	GNAO1	E246K	Inborn genetic diseases, Developmental and epileptic encephalopathy, 17, Neurodevelopmental disorder with involuntary movements, Early infantile epileptic encephalopathy with suppression bursts, not provided, Abnormality of the nervous system	Pathogenic (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 20867735.	NM_020988.3(GNAO1):c.626G>A (p.Arg209His) GRCh37: Chr16:56370675 GRCh38: Chr16:56336763	GNAO1	R209H	Neurodevelopmental disorder with involuntary movements, Inborn genetic diseases, Early infantile epileptic encephalopathy with suppression bursts, not provided	Pathogenic (Dec 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 6611536.	NM_020988.3(GNAO1):c.607G>A (p.Gly203Arg) GRCh37: Chr16:56370656 GRCh38: Chr16:56336744	GNAO1	G203R	Neurodevelopmental disorder with involuntary movements, Developmental and epileptic encephalopathy, 17, Early infantile epileptic encephalopathy with suppression bursts, not provided, GNAO1-Related Condition, Developmental and epileptic encephalopathy, 17, Abnormality of the nervous system	Pathogenic (Aug 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 6611337.	NM_020988.3(GNAO1):c.521A>G (p.Asp174Gly) GRCh37: Chr16:56368697 GRCh38: Chr16:56334785	GNAO1	D174G	Neurodevelopmental disorder with involuntary movements, Developmental and epileptic encephalopathy, 17	Pathogenic (Sep 5, 2013)	no assertion criteria provided

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Items: 37