Related gene-specific medical variations for Gene (Select 2775) - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366980	NM_020988.3(GNAO1):c.116_118dup (p.Leu39_Gly40insVal)	GNAO1	Duplication (inframe_insertion)	Neurodevelopmental disorder with involuntary movements +1 more	GLikely pathogenic
Select item 3359014	NM_020988.3(GNAO1):c.303+3A>G	GNAO1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 17	GUncertain significance
Select item 3243367	NC_000016.9:g.(?_56385276)_(56388965_?)del	GNAO1	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 3235074	NM_020988.3(GNAO1):c.1054G>A (p.Gly352Ser)	GNAO1 (G352S)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with involuntary movements +1 more	GLikely pathogenic
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 3063417	GRCh37/hg19 16q12.2(chr16:56231782-56291665)x3	GNAO1	Copy number gain	not specified	GUncertain significance
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 2627783	NM_020988.3(GNAO1):c.474C>G (p.Asp158Glu)	GNAO1 (D158E)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 17	GUncertain significance
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 2075210	NM_020988.3(GNAO1):c.161+16A>G	GNAO1-AS1, GNAO1	Single nucleotide variant (non-coding transcript variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
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 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 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 1679622	NM_020988.3(GNAO1):c.723+7070C>T	GNAO1 (R349W)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 17	GUncertain significance
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 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 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 1319189	NM_020988.3(GNAO1):c.724-4958G>A	GNAO1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1319183	NM_020988.3(GNAO1):c.608G>A (p.Gly203Glu)	GNAO1 (G203E)	Single nucleotide variant (missense variant)	not provided	GPathogenic
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 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 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 930767	NM_020988.3(GNAO1):c.723+4106A>G	GNAO1 (I286V)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 17	GUncertain significance
Select item 425107	NM_020988.3(GNAO1):c.676_677del (p.Val226fs)	GNAO1 (V226fs)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
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 +1 more	GBenign
Select item 235488	NM_020988.3(GNAO1):c.983A>G (p.Asp328Gly)	GNAO1 (D328G)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic

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Links from Gene

Items: 30