ClinVar for Gene (Select 2767) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3281740	NM_002067.5(GNA11):c.334C>G (p.Leu112Val)	GNA11 (L112V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3281739	NM_002067.5(GNA11):c.43G>C (p.Val15Leu)	GNA11 (V15L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3256231	NM_002067.5(GNA11):c.573G>A (p.Glu191=)	GNA11	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3251267	NM_002067.5(GNA11):c.*149T>C	GNA11	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 3248515	NC_000019.9:g.(?_2430909)_(4171966_?)del	APBA3, ATCAY +42 more	Deletion	RASopathy	GUncertain significance
Select item 3248492	NC_000019.9:g.(?_2430909)_(3121177_?)dup	DIRAS1, GADD45B +13 more	Duplication	Progressive myoclonic epilepsy type 9 +1 more	GUncertain significance
Select item 3242672	NC_000019.9:g.(?_3110127)_(3121177_?)dup	GNA11	Duplication	not provided	GUncertain significance
Select item 3242671	NC_000019.9:g.(?_3094650)_(3110341_?)dup	GNA11	Duplication	not provided	GUncertain significance
Select item 3242670	NC_000019.9:g.(?_3110127)_(3121177_?)del	GNA11	Deletion	not provided	GUncertain significance
Select item 3242669	NC_000019.9:g.(?_3094650)_(3115090_?)del	GNA11	Deletion	not provided	GUncertain significance
Select item 3242667	NC_000019.9:g.(?_3094650)_(3094795_?)del	GNA11	Deletion	not provided	GUncertain significance
Select item 3238640	NM_002067.5(GNA11):c.627G>T (p.Gln209His)	GNA11 (Q209H)	Single nucleotide variant (missense variant)	Venous malformation	GPathogenic
Select item 3234216	NM_002067.5(GNA11):c.1029C>T (p.Ala343=)	GNA11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3052465	NM_002067.5(GNA11):c.436G>A (p.Asp146Asn)	GNA11 (D146N)	Single nucleotide variant (missense variant)	GNA11-related disorder	GUncertain significance
Select item 3035000	NM_002067.5(GNA11):c.117G>A (p.Glu39=)	GNA11	Single nucleotide variant (synonymous variant)	GNA11-related disorder	GLikely benign
Select item 3021501	NM_002067.5(GNA11):c.914C>T (p.Ala305Val)	GNA11 (A305V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3015370	NM_002067.5(GNA11):c.606-8C>T	GNA11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3013553	NM_002067.5(GNA11):c.130C>T (p.Leu44=)	GNA11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000625	NM_002067.5(GNA11):c.137-16G>T	GNA11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999828	NM_002067.5(GNA11):c.321+18T>A	GNA11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987770	NM_002067.5(GNA11):c.735+3G>A	GNA11	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2983741	NM_002067.5(GNA11):c.27T>C (p.Cys9=)	GNA11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2973496	NM_002067.5(GNA11):c.889+6C>T	GNA11	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2967756	NM_002067.5(GNA11):c.476+15A>G	GNA11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964572	NM_002067.5(GNA11):c.136+12_136+17dup	GNA11	Duplication (intron variant)	not provided	GLikely benign
Select item 2962940	NM_002067.5(GNA11):c.492T>G (p.Val164=)	GNA11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2960743	NM_002067.5(GNA11):c.1055A>T (p.Asn352Ile)	GNA11 (N352I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2957574	NM_002067.5(GNA11):c.376C>T (p.His126Tyr)	GNA11 (H126Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2908157	NM_002067.5(GNA11):c.804C>A (p.Ser268=)	GNA11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2905132	NM_002067.5(GNA11):c.40G>A (p.Glu14Lys)	GNA11 (E14K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2903640	NM_002067.5(GNA11):c.969C>T (p.Ile323=)	GNA11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2902615	NM_002067.5(GNA11):c.137-12C>T	GNA11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2902425	NM_002067.5(GNA11):c.889+20G>T	GNA11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2902317	NM_002067.5(GNA11):c.606-12G>A	GNA11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2902314	NM_002067.5(GNA11):c.321+19G>A	GNA11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2901160	NM_002067.5(GNA11):c.1008C>T (p.Asn336=)	GNA11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2899696	NM_002067.5(GNA11):c.1055A>G (p.Asn352Ser)	GNA11 (N352S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2899287	NM_002067.5(GNA11):c.889+7_889+8insCGGCTG	GNA11	Insertion (intron variant)	not provided	GLikely benign
Select item 2897809	NM_002067.5(GNA11):c.942G>C (p.Val314=)	GNA11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2896434	NM_002067.5(GNA11):c.693C>T (p.Ala231=)	GNA11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2895536	NM_002067.5(GNA11):c.354G>A (p.Val118=)	GNA11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2894549	NM_002067.5(GNA11):c.801C>T (p.Ser267=)	GNA11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2893854	NM_002067.5(GNA11):c.54C>T (p.Ser18=)	GNA11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2893300	NM_002067.5(GNA11):c.242A>G (p.Gln81Arg)	GNA11 (Q81R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2893292	NM_002067.5(GNA11):c.852G>A (p.Leu284=)	GNA11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2891709	NM_002067.5(GNA11):c.724T>G (p.Ser242Ala)	GNA11 (S242A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2891272	NM_002067.5(GNA11):c.880G>A (p.Glu294Lys)	GNA11 (E294K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2889326	NM_002067.5(GNA11):c.889+9G>A	GNA11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2888429	NM_002067.5(GNA11):c.735+7C>G	GNA11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2887658	NM_002067.5(GNA11):c.605+6G>A	GNA11	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2887405	NM_002067.5(GNA11):c.960C>T (p.Ser320=)	GNA11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2886814	NM_002067.5(GNA11):c.603C>T (p.Phe201=)	GNA11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2886714	NM_002067.5(GNA11):c.904G>A (p.Ala302Thr)	GNA11 (A302T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2886578	NM_002067.5(GNA11):c.6T>C (p.Thr2=)	GNA11	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2885383	NM_002067.5(GNA11):c.334C>T (p.Leu112=)	GNA11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2885303	NM_002067.5(GNA11):c.939C>T (p.Phe313=)	GNA11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2884890	NM_002067.5(GNA11):c.699C>T (p.Ser233=)	GNA11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2883940	NM_002067.5(GNA11):c.735+8C>T	GNA11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2881913	NM_002067.5(GNA11):c.736-20_736-19delinsGT	GNA11	Indel (intron variant)	not provided	GUncertain significance
Select item 2877191	NM_002067.5(GNA11):c.998A>G (p.Asp333Gly)	GNA11 (D333G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2855689	NM_002067.5(GNA11):c.748_749delinsCT (p.Glu250Leu)	GNA11 (E250L)	Indel (missense variant)	not provided	GUncertain significance
Select item 2831550	NM_002067.5(GNA11):c.422T>A (p.Ile141Asn)	GNA11 (I141N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2812723	NM_002067.5(GNA11):c.76G>A (p.Glu26Lys)	GNA11 (E26K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2812669	NM_002067.5(GNA11):c.550G>T (p.Val184Leu)	GNA11 (V184L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2810680	NM_002067.5(GNA11):c.481C>T (p.Leu161=)	GNA11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2785331	NM_002067.5(GNA11):c.137-20T>C	GNA11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2779331	NM_002067.5(GNA11):c.940G>A (p.Val314Met)	GNA11 (V314M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2755825	NM_002067.5(GNA11):c.305A>G (p.Lys102Arg)	GNA11 (K102R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2755656	NM_002067.5(GNA11):c.899G>A (p.Arg300Gln)	GNA11 (R300Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2719112	NM_002067.5(GNA11):c.954C>T (p.Pro318=)	GNA11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2718004	NM_002067.5(GNA11):c.996C>T (p.Thr332=)	GNA11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2692033	NM_002067.5(GNA11):c.735+49A>G	GNA11	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2692032	NM_002067.5(GNA11):c.145G>A (p.Glu49Lys)	GNA11 (E49K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2692031	NM_002067.5(GNA11):c.136+39C>T	GNA11	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	MBD3L3, MBD3L4 +202 more	Copy number gain	not provided	GPathogenic
Select item 2633038	NM_002067.5(GNA11):c.709C>T (p.Gln237Ter)	GNA11 (Q237*)	Single nucleotide variant (nonsense)	GNA11-related disorder	GUncertain significance
Select item 2579776	NM_002067.5(GNA11):c.71A>T (p.Glu24Val)	GNA11 (E24V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576336	NM_002067.5(GNA11):c.741del (p.Met248fs)	GNA11 (M248fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2499267	NM_002067.5(GNA11):c.175A>T (p.Met59Leu)	GNA11 (M59L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2498747	NM_002067.5(GNA11):c.625C>G (p.Gln209Glu)	GNA11 (Q209E)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2445494	NC_000019.9:g.(?_1206913)_(3771740_?)dup	ABHD17A, ADAMTSL5 +80 more	Duplication	not provided	GUncertain significance
Select item 2428200	NM_002067.5(GNA11):c.331C>G (p.Leu111Val)	GNA11 (L111V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2428049	NM_002067.5(GNA11):c.321+15G>A	GNA11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2427971	NM_002067.5(GNA11):c.890-16C>T	GNA11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2427801	NM_002067.5(GNA11):c.606-16C>T	GNA11	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2426955	NM_002067.5(GNA11):c.605+18G>A	GNA11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2425270	NM_002067.5(GNA11):c.321+13G>A	GNA11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2425228	NC_000019.9:g.(?_589946)_(5696788_?)dup	TLE5, TLE6 +151 more	Duplication	not provided	GUncertain significance
Select item 2424351	NC_000019.9:g.(?_3094650)_(3094805_?)dup	GNA11	Duplication	not provided	GUncertain significance
Select item 2423880	NC_000019.9:g.(?_2901044)_(3121449_?)del	GNA11, TLE2 +3 more	Deletion	not provided	GPathogenic
Select item 2423652	NM_002067.5(GNA11):c.476+17C>A	GNA11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2423454	NC_000019.9:g.(?_589946)_(4818389_?)dup	ABCA7, ABHD17A +138 more	Duplication	not provided	GUncertain significance
Select item 2422960	NM_002067.5(GNA11):c.889+15G>A	GNA11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2422956	NM_002067.5(GNA11):c.606-15G>A	GNA11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2421288	NM_002067.5(GNA11):c.582C>T (p.Phe194=)	GNA11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2416768	NM_002067.5(GNA11):c.890-10C>T	GNA11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2416391	NM_002067.5(GNA11):c.490G>A (p.Val164Ile)	GNA11 (V164I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2416111	NM_002067.5(GNA11):c.385G>A (p.Val129Ile)	GNA11 (V129I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2246981	NM_002067.5(GNA11):c.835C>G (p.Leu279Val)	GNA11 (L279V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2192807	NM_002067.5(GNA11):c.1038C>T (p.Asp346=)	GNA11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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