ClinVar for Gene (Select 2802) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3341522	NM_001389683.1(GOLGA3):c.1290+5C>T	GOLGA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3281864	NM_001389683.1(GOLGA3):c.959A>G (p.Tyr320Cys)	GOLGA3 (Y280C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281863	NM_001389683.1(GOLGA3):c.568G>A (p.Glu190Lys)	GOLGA3 (E99K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281862	NM_001389683.1(GOLGA3):c.3488A>G (p.Lys1163Arg)	GOLGA3 (K1163R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281861	NM_001389683.1(GOLGA3):c.4483G>A (p.Gly1495Arg)	GOLGA3 (G1495R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281860	NM_001389683.1(GOLGA3):c.1887C>A (p.His629Gln)	GOLGA3 (H538Q +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3281858	NM_001389683.1(GOLGA3):c.1172G>A (p.Cys391Tyr)	GOLGA3 (C351Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281857	NM_001389683.1(GOLGA3):c.607A>G (p.Thr203Ala)	GOLGA3 (T112A +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3281856	NM_001389683.1(GOLGA3):c.682C>T (p.Leu228Phe)	GOLGA3 (L188F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281855	NM_001389683.1(GOLGA3):c.2391A>T (p.Arg797Ser)	GOLGA3 (R797S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281854	NM_001389683.1(GOLGA3):c.1237G>A (p.Glu413Lys)	GOLGA3 (E373K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281853	NM_001389683.1(GOLGA3):c.2576C>T (p.Ala859Val)	GOLGA3 (A819V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281852	NM_001389683.1(GOLGA3):c.2441G>C (p.Arg814Thr)	GOLGA3 (R774T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281851	NM_001389683.1(GOLGA3):c.382C>T (p.Leu128Phe)	GOLGA3 (L128F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3281850	NM_001389683.1(GOLGA3):c.4132G>A (p.Ala1378Thr)	GOLGA3 (A1287T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281849	NM_001389683.1(GOLGA3):c.4441G>A (p.Gly1481Ser)	GOLGA3 (G1441S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281847	NM_001389683.1(GOLGA3):c.887G>A (p.Arg296His)	GOLGA3 (R296H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281846	NM_001389683.1(GOLGA3):c.3073G>C (p.Gly1025Arg)	GOLGA3 (G934R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281845	NM_001389683.1(GOLGA3):c.1667C>T (p.Thr556Met)	GOLGA3 (T516M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244416	NC_000012.11:g.(?_133248873)_(133501664_?)del	ANKLE2, CHFR +5 more	Deletion	not provided	GPathogenic
Select item 3100769	NM_001389683.1(GOLGA3):c.946G>A (p.Asp316Asn)	GOLGA3 (D225N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100768	NM_001389683.1(GOLGA3):c.542C>T (p.Thr181Met)	GOLGA3 (T90M +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3100767	NM_001389683.1(GOLGA3):c.505C>T (p.Arg169Cys)	GOLGA3 (R169C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100766	NM_001389683.1(GOLGA3):c.4418C>T (p.Pro1473Leu)	GOLGA3 (P1433L +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3100765	NM_001389683.1(GOLGA3):c.436A>G (p.Lys146Glu)	GOLGA3 (K55E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100764	NM_001389683.1(GOLGA3):c.4363G>A (p.Glu1455Lys)	GOLGA3 (E1364K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100763	NM_001389683.1(GOLGA3):c.4360C>T (p.His1454Tyr)	GOLGA3 (H1363Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100762	NM_001389683.1(GOLGA3):c.4129G>A (p.Gly1377Ser)	GOLGA3 (G1286S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100761	NM_001389683.1(GOLGA3):c.3948G>T (p.Lys1316Asn)	GOLGA3 (K1276N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100760	NM_001389683.1(GOLGA3):c.368C>T (p.Ser123Phe)	GOLGA3 (S123F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100759	NM_001389683.1(GOLGA3):c.3612T>A (p.His1204Gln)	GOLGA3 (H1204Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100758	NM_001389683.1(GOLGA3):c.3502C>T (p.Arg1168Cys)	GOLGA3 (R1077C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100757	NM_001389683.1(GOLGA3):c.3389C>T (p.Ala1130Val)	GOLGA3 (A1130V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100756	NM_001389683.1(GOLGA3):c.3310G>C (p.Glu1104Gln)	GOLGA3 (E1013Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100755	NM_001389683.1(GOLGA3):c.3209C>T (p.Ala1070Val)	GOLGA3 (A1070V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100754	NM_001389683.1(GOLGA3):c.3146C>T (p.Ala1049Val)	GOLGA3 (A958V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3100753	NM_001389683.1(GOLGA3):c.308A>G (p.Asn103Ser)	GOLGA3 (N103S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100752	NM_001389683.1(GOLGA3):c.3001A>G (p.Asn1001Asp)	GOLGA3 (N1001D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100751	NM_001389683.1(GOLGA3):c.2881G>A (p.Glu961Lys)	GOLGA3 (E921K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100750	NM_001389683.1(GOLGA3):c.2864C>T (p.Ala955Val)	GOLGA3 (A915V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3100749	NM_001389683.1(GOLGA3):c.2843C>T (p.Ala948Val)	GOLGA3 (A857V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100748	NM_001389683.1(GOLGA3):c.2708G>A (p.Arg903His)	GOLGA3 (R903H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100747	NM_001389683.1(GOLGA3):c.2683C>T (p.Arg895Trp)	GOLGA3 (R855W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100746	NM_001389683.1(GOLGA3):c.2570G>A (p.Arg857His)	GOLGA3 (R857H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100745	NM_001389683.1(GOLGA3):c.254C>T (p.Thr85Ile)	GOLGA3 (T85I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100744	NM_001389683.1(GOLGA3):c.2239T>A (p.Tyr747Asn)	GOLGA3 (Y747N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100743	NM_001389683.1(GOLGA3):c.2190G>C (p.Gln730His)	GOLGA3 (Q690H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100742	NM_001389683.1(GOLGA3):c.1943A>T (p.Asp648Val)	GOLGA3 (D608V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100741	NM_001389683.1(GOLGA3):c.1822G>T (p.Gly608Cys)	GOLGA3 (G517C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100740	NM_001389683.1(GOLGA3):c.1349A>G (p.Gln450Arg)	GOLGA3 (Q359R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100739	NM_001389683.1(GOLGA3):c.1151G>A (p.Arg384Gln)	GOLGA3 (R384Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3025539	NM_001389683.1(GOLGA3):c.2862G>A (p.Glu954=)	GOLGA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2684689	GRCh37/hg19 12q24.33(chr12:133187938-133383618)x3	ANKLE2, GOLGA3 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2684685	GRCh37/hg19 12q24.31-24.33(chr12:121551496-133777902)x3	AACS, ABCB9 +93 more	Copy number gain	not provided	GPathogenic
Select item 2684684	GRCh37/hg19 12q24.31-24.33(chr12:120880079-133777902)x3	AACS, ABCB9 +108 more	Copy number gain	not provided	GPathogenic
Select item 2643660	NM_001389683.1(GOLGA3):c.1497G>A (p.Ala499=)	GOLGA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643659	NM_001389683.1(GOLGA3):c.1727A>G (p.Gln576Arg)	GOLGA3 (Q485R +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2643658	NM_001389683.1(GOLGA3):c.2673C>T (p.His891=)	GOLGA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643657	NM_001389683.1(GOLGA3):c.4251G>A (p.Pro1417=)	GOLGA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643656	NM_001389683.1(GOLGA3):c.4282C>T (p.Leu1428=)	GOLGA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2615456	NM_001389683.1(GOLGA3):c.2297A>G (p.Asp766Gly)	GOLGA3 (D675G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611936	NM_001389683.1(GOLGA3):c.3684C>G (p.His1228Gln)	GOLGA3 (H1188Q +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2605538	NM_001389683.1(GOLGA3):c.2747C>A (p.Ala916Glu)	GOLGA3 (A825E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600203	NM_001389683.1(GOLGA3):c.4187C>T (p.Thr1396Met)	GOLGA3 (T1356M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596975	NM_001389683.1(GOLGA3):c.3044C>T (p.Ala1015Val)	GOLGA3 (A1015V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594956	NM_001389683.1(GOLGA3):c.2339C>T (p.Ala780Val)	GOLGA3 (A689V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2593764	NM_001389683.1(GOLGA3):c.2902C>G (p.Arg968Gly)	GOLGA3 (R877G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592760	NM_001389683.1(GOLGA3):c.1994T>C (p.Met665Thr)	GOLGA3 (M574T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570547	NM_001389683.1(GOLGA3):c.1468A>C (p.Met490Leu)	GOLGA3 (M450L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560160	NM_001389683.1(GOLGA3):c.2961C>A (p.Ser987Arg)	GOLGA3 (S947R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559671	NM_001389683.1(GOLGA3):c.2075C>T (p.Ala692Val)	GOLGA3 (A601V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558198	NM_001389683.1(GOLGA3):c.2297A>T (p.Asp766Val)	GOLGA3 (D675V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558197	NM_001389683.1(GOLGA3):c.2296G>T (p.Asp766Tyr)	GOLGA3 (D726Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553428	NM_001389683.1(GOLGA3):c.1603G>A (p.Asp535Asn)	GOLGA3 (D535N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550329	NM_001389683.1(GOLGA3):c.1664C>T (p.Thr555Met)	GOLGA3 (T555M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548023	NM_001389683.1(GOLGA3):c.2224G>A (p.Ala742Thr)	GOLGA3 (A742T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542258	NM_001389683.1(GOLGA3):c.1109C>T (p.Ala370Val)	GOLGA3 (A330V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534829	NM_001389683.1(GOLGA3):c.4223C>T (p.Ser1408Leu)	GOLGA3 (S1317L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533803	NM_001389683.1(GOLGA3):c.2569C>T (p.Arg857Cys)	GOLGA3 (R766C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528972	NM_001389683.1(GOLGA3):c.52A>C (p.Ser18Arg)	GOLGA3 (S18R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523077	NM_001389683.1(GOLGA3):c.3689T>A (p.Val1230Glu)	GOLGA3 (V1139E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517577	NM_001389683.1(GOLGA3):c.4168A>G (p.Ser1390Gly)	GOLGA3 (S1350G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515002	NM_001389683.1(GOLGA3):c.413C>T (p.Thr138Ile)	GOLGA3 (T98I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513697	NM_001389683.1(GOLGA3):c.19G>A (p.Glu7Lys)	GOLGA3 (E7K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513146	NM_001389683.1(GOLGA3):c.3055G>T (p.Ala1019Ser)	GOLGA3 (A1019S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2510203	NM_001389683.1(GOLGA3):c.319T>G (p.Ser107Ala)	GOLGA3 (S107A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2508681	NM_001389683.1(GOLGA3):c.793G>C (p.Ala265Pro)	GOLGA3 (A265P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508636	NM_001389683.1(GOLGA3):c.1510G>A (p.Asp504Asn)	GOLGA3 (D504N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489635	NM_001389683.1(GOLGA3):c.874G>A (p.Asp292Asn)	GOLGA3 (D201N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488846	NM_001389683.1(GOLGA3):c.3385G>A (p.Ala1129Thr)	GOLGA3 (A1089T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488235	NM_001389683.1(GOLGA3):c.767C>T (p.Ala256Val)	GOLGA3 (A216V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483606	NM_001389683.1(GOLGA3):c.2458A>G (p.Lys820Glu)	GOLGA3 (K729E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476882	NM_001389683.1(GOLGA3):c.2572G>A (p.Asp858Asn)	GOLGA3 (D767N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474964	NM_001389683.1(GOLGA3):c.4082A>G (p.Lys1361Arg)	GOLGA3 (K1270R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472244	NM_001389683.1(GOLGA3):c.1525G>A (p.Glu509Lys)	GOLGA3 (E418K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471262	NM_001389683.1(GOLGA3):c.1117C>G (p.Gln373Glu)	GOLGA3 (Q282E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465575	NM_001389683.1(GOLGA3):c.2560G>T (p.Ala854Ser)	GOLGA3 (A814S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459851	NM_001389683.1(GOLGA3):c.4423G>T (p.Gly1475Cys)	GOLGA3 (G1384C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456179	NM_001389683.1(GOLGA3):c.4355C>T (p.Thr1452Met)	GOLGA3 (T1361M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406144	NM_001389683.1(GOLGA3):c.1102G>A (p.Ala368Thr)	GOLGA3 (A368T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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