GNAI1[gene] - ClinVar

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

Search results

Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	ADAP1, ADCK2 +4736 more	Copy number loss	See cases	GPathogenic
Select item 57096	GRCh38/hg38 7q11.22-21.11(chr7:71225344-81735657)x1	ABHD11, ABHD11-AS1 +317 more	Copy number loss	See cases	GPathogenic
Select item 60244	GRCh38/hg38 7q11.23-21.11(chr7:73873420-83988860)x1	APTR, CACNA2D1 +249 more	Copy number loss	See cases	GPathogenic
Select item 154313	GRCh38/hg38 7q11.23-21.11(chr7:74377395-82031742)x1	APTR, CACNA2D1 +194 more	Copy number loss	See cases	GPathogenic
Select item 254280	Single allele	CACNA2D1, CACNA2D1-AS1 +79 more	Deletion	Seizure +1 more	GLikely pathogenic
Select item 3251626	NM_002069.6(GNAI1):c.-2C>T	GNAI1	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2920675	NM_002069.6(GNAI1):c.1A>G (p.Met1Val)	GNAI1 (M1V)	Single nucleotide variant (missense variant +1 more)	Developmental disorder	GUncertain significance
Select item 1310948	NM_002069.6(GNAI1):c.14T>C (p.Leu5Pro)	GNAI1 (L5P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2550657	NM_002069.6(GNAI1):c.19G>A (p.Ala7Thr)	GNAI1 (A7T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1703387	NM_002069.6(GNAI1):c.37G>C (p.Val13Leu)	GNAI1 (V13L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 984539	NM_002069.6(GNAI1):c.68_70del (p.Leu23del)	GNAI1 (L23del)	Deletion (inframe_deletion)	Neurodevelopmental abnormality	GLikely pathogenic
Select item 3045889	NM_002069.6(GNAI1):c.90G>A (p.Ala30=)	GNAI1	Single nucleotide variant (synonymous variant)	GNAI1-related disorder	GLikely benign
Select item 2577995	NM_002069.6(GNAI1):c.118G>C (p.Gly40Arg)	GNAI1 (G40R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1685334	NM_002069.6(GNAI1):c.118G>T (p.Gly40Cys)	GNAI1 (G40C)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities	GLikely pathogenic
Select item 2221257	NM_002069.6(GNAI1):c.118+5G>A	GNAI1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GLikely benign
Select item 2582165	NM_002069.6(GNAI1):c.133G>T (p.Gly45Cys)	GNAI1 (G45C)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2498283	NM_002069.6(GNAI1):c.134G>A (p.Gly45Asp)	GNAI1 (G45D)	Single nucleotide variant (5 prime UTR variant +1 more)	Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities	GLikely pathogenic
Select item 1338814	NM_002069.6(GNAI1):c.134G>T (p.Gly45Val)	GNAI1 (G45V)	Single nucleotide variant (5 prime UTR variant +1 more)	GNAI1-related disorder	GUncertain significance
Select item 1172689	NM_002069.6(GNAI1):c.142A>C (p.Thr48Pro)	GNAI1 (T48P)	Single nucleotide variant (5 prime UTR variant +1 more)	Seizure	GLikely pathogenic
Select item 873455	NM_002069.6(GNAI1):c.143C>A (p.Thr48Lys)	GNAI1 (T48K)	Single nucleotide variant (5 prime UTR variant +1 more)	Neurodevelopmental disorder	GLikely pathogenic
Select item 987048	NM_002069.6(GNAI1):c.155A>C (p.Gln52Pro)	GNAI1 (Q52P)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 3040759	NM_002069.6(GNAI1):c.162-5A>G	GNAI1	Single nucleotide variant (intron variant)	GNAI1-related disorder	GLikely benign
Select item 3065594	NM_002069.6(GNAI1):c.170A>G (p.His57Arg)	GNAI1 (H57R +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities	GLikely pathogenic
Select item 3064041	NM_002069.6(GNAI1):c.170A>C (p.His57Pro)	GNAI1 (H57P +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities	Gnot provided
Select item 3058557	NM_002069.6(GNAI1):c.228C>T (p.Asn76=)	GNAI1	Single nucleotide variant (synonymous variant)	GNAI1-related disorder	GLikely benign
Select item 1321931	NM_002069.6(GNAI1):c.238T>G (p.Ser80Ala)	GNAI1 (S28A +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 1691129	NM_002069.6(GNAI1):c.262A>G (p.Met88Val)	GNAI1 (M36V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2245805	NM_002069.6(GNAI1):c.290A>C (p.Asp97Ala)	GNAI1 (D97A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 789592	NM_002069.6(GNAI1):c.336A>G (p.Gly112=)	GNAI1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2253221	NM_002069.6(GNAI1):c.350G>C (p.Gly117Ala)	GNAI1 (G117A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2578540	NM_002069.6(GNAI1):c.362C>T (p.Ala121Val)	GNAI1 (A121V +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities	GUncertain significance
Select item 2579143	NM_002069.6(GNAI1):c.364G>A (p.Glu122Lys)	GNAI1 (E122K +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities	GUncertain significance
Select item 2261081	NM_002069.6(GNAI1):c.409C>G (p.Gln137Glu)	GNAI1 (Q137E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3066126	NM_002069.6(GNAI1):c.462-10T>G	GNAI1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities	GUncertain significance
Select item 2429704	NM_002069.6(GNAI1):c.462C>G (p.Tyr154Ter)	GNAI1 (Y102* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2478329	NM_002069.6(GNAI1):c.478G>A (p.Asp160Asn)	GNAI1 (D108N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369107	NM_002069.6(GNAI1):c.493C>A (p.Pro165Thr)	GNAI1 (P113T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1712287	NM_002069.6(GNAI1):c.493C>G (p.Pro165Ala)	GNAI1 (P113A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2691889	NM_002069.6(GNAI1):c.500A>G (p.Tyr167Cys)	GNAI1 (Y115C +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities	GUncertain significance
Select item 3047974	NM_002069.6(GNAI1):c.507G>A (p.Pro169=)	GNAI1	Single nucleotide variant (synonymous variant)	GNAI1-related disorder	GLikely benign
Select item 1339601	NM_002069.6(GNAI1):c.518A>T (p.Asp173Val)	GNAI1 (D121V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1309224	NM_002069.6(GNAI1):c.548del (p.Gly183fs)	GNAI1 (G131fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3252324	NM_002069.6(GNAI1):c.583C>T (p.His195Tyr)	GNAI1 (H143Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2431632	NM_002069.6(GNAI1):c.611A>G (p.Gln204Arg)	GNAI1 (Q152R +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities	GLikely pathogenic
Select item 3056616	NM_002069.6(GNAI1):c.645C>T (p.Phe215=)	GNAI1	Single nucleotide variant (synonymous variant)	GNAI1-related disorder	GBenign
Select item 1203197	NM_002069.6(GNAI1):c.671G>A (p.Cys224Tyr)	GNAI1 (C172Y +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2571956	NM_002069.6(GNAI1):c.725G>A (p.Arg242Gln)	GNAI1 (R190Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2501367	NM_002069.6(GNAI1):c.788C>T (p.Ser263Phe)	GNAI1 (S211F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1701772	NM_002069.6(GNAI1):c.807C>G (p.Asn269Lys)	GNAI1 (N217K +1 more)	Single nucleotide variant (missense variant)	GNAI1 associated Neurodevelopmental disorder	GUncertain significance
Select item 2441826	NM_002069.6(GNAI1):c.808A>C (p.Lys270Gln)	GNAI1 (K218Q +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities	GUncertain significance
Select item 1686919	NM_002069.6(GNAI1):c.809A>G (p.Lys270Arg)	GNAI1 (K270R +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities	GPathogenic
Select item 3075801	NM_002069.6(GNAI1):c.810G>C (p.Lys270Asn)	GNAI1 (K218N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1335674	NM_002069.6(GNAI1):c.814G>A (p.Asp272Asn)	GNAI1 (D220N +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1686920	NM_002069.6(GNAI1):c.815A>G (p.Asp272Gly)	GNAI1 (D272G +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities	GPathogenic
Select item 1313008	NM_002069.6(GNAI1):c.826_827delinsTT (p.Glu276Leu)	GNAI1 (E224L +1 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 503827	NM_002069.6(GNAI1):c.832dup (p.Ile278fs)	GNAI1 (I278fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1268914	NM_002069.6(GNAI1):c.846T>C (p.Pro282=)	GNAI1	Single nucleotide variant (synonymous variant)	GNAI1-related disorder +1 more	GBenign
Select item 2371759	NM_002069.6(GNAI1):c.853A>G (p.Ile285Val)	GNAI1 (I285V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1699448	NM_002069.6(GNAI1):c.869A>T (p.Tyr290Phe)	GNAI1 (Y238F +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 2616815	NM_002069.6(GNAI1):c.871G>T (p.Ala291Ser)	GNAI1 (A239S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2637490	NM_002069.6(GNAI1):c.875-2A>G	GNAI1	Single nucleotide variant (splice acceptor variant)	not specified	GUncertain significance
Select item 3040352	NM_002069.6(GNAI1):c.876A>G (p.Gly292=)	GNAI1	Single nucleotide variant (synonymous variant)	GNAI1-related disorder	GLikely benign
Select item 1703888	NM_002069.6(GNAI1):c.878C>G (p.Ser293Ter)	GNAI1 (S241* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2123711	NM_002069.6(GNAI1):c.884C>T (p.Thr295Ile)	GNAI1 (T243I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1686915	NM_002069.6(GNAI1):c.995T>A (p.Val332Glu)	GNAI1 (V280E)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities	GPathogenic
Select item 2276997	NM_002069.6(GNAI1):c.1030A>G (p.Ile344Val)	GNAI1 (I292V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2432197	NM_002069.6(GNAI1):c.1059_1063del (p.Phe354fs)	GNAI1 (F302fs +1 more)	Deletion (frameshift variant)	Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities	GUncertain significance
Select item 2657635	NM_002069.6(GNAI1):c.*4T>G	GNAI1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527371	GRCh37/hg19 7q21.11(chr7:78430626-82605557)	CACNA2D1, CD36 +6 more	Copy number loss	not specified	GUncertain significance
Select item 1527369	GRCh37/hg19 7q21.11-21.3(chr7:77821356-93340137)	ABCB1, ABCB4 +50 more	Copy number gain	not specified	GPathogenic
Select item 1527367	GRCh37/hg19 7q11.23-21.11(chr7:77310644-84461089)	CACNA2D1, CD36 +11 more	Copy number loss	not specified	GPathogenic
Select item 814999	GRCh37/hg19 7q21.11(chr7:79445069-79802048)x3	GNAI1	Copy number gain	not provided	GUncertain significance
Select item 814998	GRCh37/hg19 7q21.11(chr7:79398907-79832746)x3	GNAI1	Copy number gain	not provided	GUncertain significance
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 560131	Single allele	CD36, GNAI1 +7 more	Deletion	not provided	GUncertain significance
Select item 560111	Single allele	CACNA2D1, ERVW-1 +91 more	Deletion	not provided	GUncertain significance
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 394284	GRCh37/hg19 7q21.11(chr7:79393170-80800105)x3	CD36, GNAI1 +2 more	Copy number gain	See cases	GUncertain significance
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

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: 83