GNAI3[gene] - ClinVar

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Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60005	GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1	AGL, AHCYL1 +333 more	Copy number loss	See cases	GPathogenic
Select item 60007	GRCh38/hg38 1p21.2-13.2(chr1:101618097-111703028)x1	ELAPOR1, EPS8L3 +276 more	Copy number loss	See cases	GPathogenic
Select item 545138	NC_000001.11:g.(?_103175204)_(111410059_?)del	AHCYL1, AKNAD1 +242 more	Deletion	Autism	GLikely pathogenic
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LINC01780, LINC02868 +563 more	Copy number gain	See cases	GPathogenic
Select item 154693	GRCh38/hg38 1p21.1-13.2(chr1:105468292-112190626)x1	ADORA3, AHCYL1 +274 more	Copy number loss	See cases	GPathogenic
Select item 60009	GRCh38/hg38 1p21.1-13.3(chr1:106074587-110144290)x1	AHCYL1, AKNAD1 +148 more	Copy number loss	See cases	GPathogenic
Select item 149612	GRCh38/hg38 1p13.3(chr1:108970247-109794222)x3	AMIGO1, AMPD2 +72 more	Copy number gain	See cases	GUncertain significance
Select item 1274531	NM_006496.4(GNAI3):c.-72C>T	GNAI3	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1262343	NM_006496.4(GNAI3):c.-61C>T	GNAI3	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 2264918	NM_006496.4(GNAI3):c.29A>G (p.Lys10Arg)	GNAI3, LOC129931108 (K10R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3034301	NM_006496.4(GNAI3):c.62G>A (p.Arg21His)	GNAI3, LOC129931108 (R21H)	Single nucleotide variant (missense variant)	GNAI3-related disorder	GLikely benign
Select item 3032535	NM_006496.4(GNAI3):c.72G>C (p.Arg24=)	GNAI3, LOC129931108	Single nucleotide variant (synonymous variant)	GNAI3-related disorder	GLikely benign
Select item 3363275	NM_006496.4(GNAI3):c.76G>A (p.Asp26Asn)	GNAI3, LOC129931108 (D26N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3100560	NM_006496.4(GNAI3):c.79G>A (p.Gly27Arg)	GNAI3, LOC129931108 (G27R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1243082	NM_006496.4(GNAI3):c.105G>A (p.Lys35=)	GNAI3, LOC129931108	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 31636	NM_006496.4(GNAI3):c.118G>C (p.Gly40Arg)	GNAI3, LOC129931108 (G40R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1321638	NM_006496.4(GNAI3):c.118+1G>C	GNAI3, LOC129931108	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1809757	NM_006496.4(GNAI3):c.119G>T (p.Gly40Val)	GNAI3 (G40V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2663775	NM_006496.4(GNAI3):c.136A>G (p.Lys46Glu)	GNAI3 (K46E)	Single nucleotide variant (missense variant)	Auriculocondylar syndrome 1	GLikely pathogenic
Select item 450201	NM_006496.4(GNAI3):c.140G>A (p.Ser47Asn)	GNAI3 (S47N)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 64691	NM_006496.4(GNAI3):c.141C>A (p.Ser47Arg)	GNAI3 (S47R)	Single nucleotide variant (missense variant)	Auriculocondylar syndrome 1	GPathogenic
Select item 988478	NM_006496.4(GNAI3):c.143C>A (p.Thr48Asn)	GNAI3 (T48N)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2432198	NM_006496.4(GNAI3):c.145A>G (p.Ile49Val)	GNAI3 (I49V)	Single nucleotide variant (missense variant)	Auriculocondylar syndrome 1	GUncertain significance
Select item 548497	NM_006496.4(GNAI3):c.146T>C (p.Ile49Thr)	GNAI3 (I49T)	Single nucleotide variant (missense variant)	Auriculocondylar syndrome 1	GUncertain significance
Select item 1973080	NM_006496.4(GNAI3):c.157A>G (p.Met53Val)	GNAI3 (M53V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1971553	NM_006496.4(GNAI3):c.161+18G>A	GNAI3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2064232	NM_006496.4(GNAI3):c.162-7T>C	GNAI3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2692102	NM_006496.4(GNAI3):c.169C>T (p.His57Tyr)	GNAI3 (H57Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281760	NM_006496.4(GNAI3):c.223A>G (p.Ser75Gly)	GNAI3 (S75G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3365236	NM_006496.4(GNAI3):c.224G>A (p.Ser75Asn)	GNAI3 (S75N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3100558	NM_006496.4(GNAI3):c.250A>G (p.Ile84Val)	GNAI3 (I84V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 740509	NM_006496.4(GNAI3):c.269G>A (p.Arg90Gln)	GNAI3 (R90Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3367629	NM_006496.4(GNAI3):c.272T>A (p.Leu91Gln)	GNAI3 (L91Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 989287	NM_006496.4(GNAI3):c.303+1G>A	GNAI3	Single nucleotide variant (splice donor variant)	Auriculocondylar syndrome 1	GUncertain significance
Select item 2095917	NM_006496.4(GNAI3):c.322T>C (p.Phe108Leu)	GNAI3 (F108L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2022114	NM_006496.4(GNAI3):c.367C>G (p.Leu123Val)	GNAI3 (L123V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2251124	NM_006496.4(GNAI3):c.374G>C (p.Gly125Ala)	GNAI3 (G125A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3100559	NM_006496.4(GNAI3):c.386G>A (p.Arg129Gln)	GNAI3 (R129Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1080250	NM_006496.4(GNAI3):c.400G>A (p.Gly134Ser)	GNAI3 (G134S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2170169	NM_006496.4(GNAI3):c.408A>T (p.Val136=)	GNAI3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1231480	NM_006496.4(GNAI3):c.462-171C>T	GNAI3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 725932	NM_006496.4(GNAI3):c.509C>T (p.Thr170Ile)	GNAI3 (T170I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2893168	NM_006496.4(GNAI3):c.570C>G (p.Thr190=)	GNAI3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3042466	NM_006496.4(GNAI3):c.588C>T (p.Phe196=)	GNAI3	Single nucleotide variant (synonymous variant)	GNAI3-related disorder	GLikely benign
Select item 1266100	NM_006496.4(GNAI3):c.590+198G>A	GNAI3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255111	NM_006496.4(GNAI3):c.591-193A>G	GNAI3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1599770	NM_006496.4(GNAI3):c.591-18T>G	GNAI3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2265257	NM_006496.4(GNAI3):c.661A>G (p.Ile221Val)	GNAI3 (I221V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244400	NM_006496.4(GNAI3):c.712G>A (p.Glu238Lys)	GNAI3 (E238K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2635960	NM_006496.4(GNAI3):c.790A>G (p.Ile264Val)	GNAI3 (I264V)	Single nucleotide variant (missense variant)	GNAI3-related disorder	GUncertain significance
Select item 2856207	NM_006496.4(GNAI3):c.882T>C (p.Asn294=)	GNAI3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1700285	NM_006496.4(GNAI3):c.883A>G (p.Thr295Ala)	GNAI3 (T295A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2155787	NM_006496.4(GNAI3):c.903C>T (p.Ala301=)	GNAI3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2473847	NM_006496.4(GNAI3):c.950A>G (p.Lys317Arg)	GNAI3 (K317R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3100561	NM_006496.4(GNAI3):c.954G>C (p.Glu318Asp)	GNAI3 (E318D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2041797	NM_006496.4(GNAI3):c.972C>T (p.Thr324=)	GNAI3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 917731	NM_006496.4(GNAI3):c.986C>T (p.Thr329Met)	GNAI3 (T329M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718422	NM_006496.4(GNAI3):c.987G>A (p.Thr329=)	GNAI3	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3345601	NM_006496.4(GNAI3):c.1031T>C (p.Ile344Thr)	GNAI3 (I344T)	Single nucleotide variant (missense variant)	GNAI3-related disorder	GUncertain significance
Select item 2849262	NM_006496.4(GNAI3):c.1035A>G (p.Lys345=)	GNAI3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1313427	NM_006496.4(GNAI3):c.1037A>T (p.Asn346Ile)	GNAI3 (N346I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3043340	NM_006496.4(GNAI3):c.1042T>C (p.Leu348=)	GNAI3	Single nucleotide variant (synonymous variant)	GNAI3-related disorder	GLikely benign
Select item 3220872	NM_001377295.2(GNAT2):c.874+1G>T	GNAI3, GNAT2 +1 more	Single nucleotide variant (splice donor variant)	Achromatopsia 4	GLikely pathogenic
Select item 3247974	NC_000001.10:g.(?_110116339)_(110116679_?)del	GNAI3	Deletion	not provided	GUncertain significance
Select item 3063454	GRCh37/hg19 1p13.3-13.2(chr1:109700156-112176616)x1	ADORA3, AHCYL1 +48 more	Copy number loss	not specified	GUncertain significance
Select item 2685577	GRCh37/hg19 1p13.3-13.1(chr1:110066946-116672408)x1	ADORA3, AHCYL1 +77 more	Copy number loss	not provided	GPathogenic
Select item 2685566	GRCh37/hg19 1p13.3(chr1:109944288-110157840)x1	AMIGO1, ATXN7L2 +7 more	Copy number loss	not provided	GUncertain significance
Select item 2685555	GRCh37/hg19 1p13.3-13.2(chr1:109483388-112293512)x1	ADORA3, AHCYL1 +54 more	Copy number loss	not provided	GPathogenic
Select item 2424031	NC_000001.10:g.(?_108679275)_(111674176_?)del	AHCYL1, AKNAD1 +52 more	Deletion	Hereditary spastic paraplegia 63 +1 more	GPathogenic
Select item 1527171	GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931)	ADORA3, AGL +124 more	Copy number loss	not specified	GPathogenic
Select item 1340040	GRCh37/hg19 1p13.3(chr1:108346477-110177123)x1	AKNAD1, AMIGO1 +30 more	Copy number loss	not provided	GUncertain significance
Select item 1047871	GRCh37/hg19 1p21.2-12(chr1:102021465-119737478)	ATP1A1, RAP1A +131 more	Copy number loss	Seizure +1 more	GPathogenic
Select item 684474	Single allele	AHCYL1, AKNAD1 +47 more	Deletion	not provided	Gnot provided
Select item 635280	Single allele	KCNC4, LAMTOR5 +50 more	Deletion	1p13.3 deletion syndrome	GLikely pathogenic
Select item 443336	GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3	ABCA4, ABCD3 +177 more	Copy number gain	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 77