4384[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 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 3339699	NM_002069.6(GNAI1):c.64A>T (p.Asn22Tyr)	GNAI1 (N22Y)	Single nucleotide variant (missense variant)	not specified	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 3281758	NM_002069.6(GNAI1):c.84G>C (p.Glu28Asp)	GNAI1 (E28D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3362733	NM_002069.6(GNAI1):c.130T>G (p.Ser44Ala)	GNAI1 (S44A)	Single nucleotide variant (5 prime UTR variant +1 more)	Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities	GLikely pathogenic
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 3372897	NM_002069.6(GNAI1):c.152A>G (p.Lys51Arg)	GNAI1 (K51R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
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 3371322	NM_002069.6(GNAI1):c.167T>C (p.Ile56Thr)	GNAI1 (I4T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3281757	NM_002069.6(GNAI1):c.229A>G (p.Thr77Ala)	GNAI1 (T77A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3281756	NM_002069.6(GNAI1):c.269G>A (p.Arg90Lys)	GNAI1 (R38K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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	GConflicting classifications of pathogenicity
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 3343635	NM_002069.6(GNAI1):c.421A>G (p.Asn141Asp)	GNAI1 (N141D +1 more)	Single nucleotide variant (missense variant)	not provided	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)	Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities +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 3369485	NM_002069.6(GNAI1):c.626A>C (p.Lys209Thr)	GNAI1 (K157T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3342011	NM_002069.6(GNAI1):c.774del (p.Trp258fs)	GNAI1 (W206fs +1 more)	Deletion (frameshift 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 3341031	NM_002069.6(GNAI1):c.807C>A (p.Asn269Lys)	GNAI1 (N217K +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)	Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities +1 more	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 3357911	NM_002069.6(GNAI1):c.820T>A (p.Phe274Ile)	GNAI1 (F222I +1 more)	Single nucleotide variant (missense variant)	GNAI1-related disorder	GUncertain significance
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)	not provided	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 3369441	NM_002069.6(GNAI1):c.939_942del (p.Lys314fs)	GNAI1 (K262fs +1 more)	Microsatellite (frameshift 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 3363467	NM_002069.6(GNAI1):c.1009G>C (p.Asp337His)	GNAI1 (D285H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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
Select item 3362191	NM_002069.6(GNAI1):c.990_992del (p.Lys330del)	GNAI1 (K278del +1 more)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 3360801	NM_002069.6(GNAI1):c.128A>G (p.Glu43Gly)	GNAI1 (E43G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3360130	NM_002069.6(GNAI1):c.298C>G (p.Arg100Gly)	GNAI1 (R100G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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