"Ambry Genetics"[submitter] AND "GNAO1"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 461353	NM_020988.3(GNAO1):c.27G>A (p.Glu9=)	GNAO1	Single nucleotide variant (synonymous variant)	GNAO1-Related Condition +3 more	GLikely benign
Select item 946388	NM_020988.3(GNAO1):c.58G>A (p.Glu20Lys)	GNAO1 (E20K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 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 530583	NM_020988.3(GNAO1):c.119-5A>G	GNAO1	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GLikely benign
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 589987	NM_020988.3(GNAO1):c.156G>A (p.Gln52=)	GNAO1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 590085	NM_020988.3(GNAO1):c.274G>A (p.Gly92Ser)	GNAO1 (G92S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2291242	NM_020988.3(GNAO1):c.277A>G (p.Ile93Val)	GNAO1 (I93V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2232063	NM_020988.3(GNAO1):c.327T>G (p.Asp109Glu)	GNAO1 (D109E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 589174	NM_020988.3(GNAO1):c.333G>A (p.Val111=)	GNAO1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2272364	NM_020988.3(GNAO1):c.338G>C (p.Arg113Pro)	GNAO1 (R113P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 461355	NM_020988.3(GNAO1):c.351C>T (p.Thr117=)	GNAO1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 590035	NM_020988.3(GNAO1):c.354G>T (p.Glu118Asp)	GNAO1 (E118D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1735873	NM_020988.3(GNAO1):c.388C>A (p.Arg130=)	GNAO1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 657487	NM_020988.3(GNAO1):c.389G>A (p.Arg130Gln)	GNAO1 (R130Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 643497	NM_020988.3(GNAO1):c.397G>A (p.Gly133Ser)	GNAO1 (G133S)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GConflicting classifications of pathogenicity
Select item 1165281	NM_020988.3(GNAO1):c.399C>T (p.Gly133=)	GNAO1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 415872	NM_020988.3(GNAO1):c.414A>G (p.Gln138=)	GNAO1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GBenign/Likely benign
Select item 751207	NM_020988.3(GNAO1):c.417G>A (p.Glu139=)	GNAO1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely 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 915356	NM_020988.3(GNAO1):c.448A>C (p.Asn150His)	GNAO1 (N150H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 697668	NM_020988.3(GNAO1):c.495C>T (p.Ala165=)	GNAO1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1534463	NM_020988.3(GNAO1):c.498C>T (p.Ala166=)	GNAO1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GLikely benign
Select item 1744646	NM_020988.3(GNAO1):c.499G>A (p.Asp167Asn)	GNAO1 (D167N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 585942	NM_020988.3(GNAO1):c.513C>T (p.Thr171=)	GNAO1	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with involuntary movements +4 more	GBenign
Select item 590094	NM_020988.3(GNAO1):c.520G>A (p.Asp174Asn)	GNAO1 (D174N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 521928	NM_020988.3(GNAO1):c.550G>C (p.Gly184Arg)	GNAO1 (G184R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 1751124	NM_020988.3(GNAO1):c.601G>T (p.Asp201Tyr)	GNAO1 (D201Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 700035	NM_020988.3(GNAO1):c.606C>T (p.Val202=)	GNAO1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
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)	Neurodevelopmental disorder with involuntary movements +3 more	GPathogenic
Select item 241366	NM_020988.3(GNAO1):c.654C>T (p.Asp218=)	GNAO1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +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 590105	NM_020988.3(GNAO1):c.678C>T (p.Val226=)	GNAO1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GLikely benign
Select item 415876	NM_020988.3(GNAO1):c.687C>T (p.Ser229=)	GNAO1	Single nucleotide variant (synonymous variant)	GNAO1-Related Condition +3 more	GBenign/Likely benign
Select item 1336070	NM_020988.3(GNAO1):c.708C>T (p.His236=)	GNAO1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 812780	NM_020988.3(GNAO1):c.723+1G>A	GNAO1	Single nucleotide variant (splice donor variant)	Inborn genetic diseases +1 more	GPathogenic
Select item 2219142	NM_020988.3(GNAO1):c.723+3985C>G	GNAO1 (H245Q)	Single nucleotide variant (missense variant +1 more)	GNAO1-Related Condition +1 more	GBenign/Likely benign
Select item 585943	NM_020988.3(GNAO1):c.723+4020A>G	GNAO1 (N257S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 2356710	NM_020988.3(GNAO1):c.723+4098C>T	GNAO1 (P283L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 426965	NM_020988.3(GNAO1):c.724-8G>A	GNAO1	Single nucleotide variant (intron variant)	Inborn genetic diseases +5 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 1762858	NM_020988.3(GNAO1):c.830A>G (p.Glu277Gly)	GNAO1 (E277G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 415874	NM_020988.3(GNAO1):c.921A>G (p.Gln307=)	GNAO1	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GBenign
Select item 241368	NM_020988.3(GNAO1):c.993C>T (p.Asn331=)	GNAO1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign
Select item 589044	NM_020988.3(GNAO1):c.1014C>T (p.Ala338=)	GNAO1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 530558	NM_020988.3(GNAO1):c.1017C>A (p.Val339=)	GNAO1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 697320	NM_020988.3(GNAO1):c.1020C>T (p.Thr340=)	GNAO1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 985652	NM_020988.3(GNAO1):c.1030_1032del (p.Ile344del)	GNAO1 (I344del)	Deletion (inframe_deletion)	Inborn genetic diseases	GLikely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 51