GOLGA3[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 158

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	TRD-GTC2-10, TRD-GTC2-9 +906 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	AACS, ABCB9 +892 more	Copy number gain	See cases	GPathogenic
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	HNF1A, HNF1A-AS1 +786 more	Copy number gain	See cases	GPathogenic
Select item 148578	GRCh38/hg38 12q24.31-24.33(chr12:120697672-133202490)x3	AACS, ABCB9 +663 more	Copy number gain	See cases	GPathogenic
Select item 57448	GRCh38/hg38 12q24.31-24.33(chr12:123444758-133191400)x3	AACS, ADGRD1 +412 more	Copy number gain	See cases	GPathogenic
Select item 146222	GRCh38/hg38 12q24.31-24.33(chr12:123509825-133191400)x3	AACS, ADGRD1 +408 more	Copy number gain	See cases	GPathogenic
Select item 59847	GRCh38/hg38 12q24.32-24.33(chr12:126403612-133166920)x3	ADGRD1, ADGRD1-AS1 +266 more	Copy number gain	See cases	GPathogenic
Select item 144761	GRCh38/hg38 12q24.33(chr12:131650542-133191400)x1	ANKLE2, CHFR +122 more	Copy number loss	See cases	GPathogenic
Select item 144295	GRCh38/hg38 12q24.33(chr12:132576614-133191400)x1	ZNF84, ZNF84-DT +55 more	Copy number loss	See cases	GPathogenic
Select item 2355818	NM_001389683.1(GOLGA3):c.4439G>A (p.Arg1480His)	GOLGA3 (R1389H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351646	NM_001389683.1(GOLGA3):c.4435C>G (p.Pro1479Ala)	GOLGA3 (P1388A +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 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 2398371	NM_001389683.1(GOLGA3):c.4382C>T (p.Thr1461Met)	GOLGA3 (T1370M +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 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 2643656	NM_001389683.1(GOLGA3):c.4282C>T (p.Leu1428=)	GOLGA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2244528	NM_001389683.1(GOLGA3):c.4258G>A (p.Val1420Met)	GOLGA3 (V1329M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643657	NM_001389683.1(GOLGA3):c.4251G>A (p.Pro1417=)	GOLGA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 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 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 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 2353573	NM_001389683.1(GOLGA3):c.3857T>C (p.Met1286Thr)	GOLGA3 (M1286T +2 more)	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 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 2401774	NM_001389683.1(GOLGA3):c.3659A>C (p.Lys1220Thr)	GOLGA3 (K1129T +2 more)	Single nucleotide variant (missense variant)	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 2325024	NM_001389683.1(GOLGA3):c.3605C>G (p.Ala1202Gly)	GOLGA3 (A1162G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327878	NM_001389683.1(GOLGA3):c.3595A>G (p.Lys1199Glu)	GOLGA3 (K1108E +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 2395281	NM_001389683.1(GOLGA3):c.3427G>T (p.Ala1143Ser)	GOLGA3 (A1052S +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 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 2330411	NM_001389683.1(GOLGA3):c.3373G>T (p.Gly1125Cys)	GOLGA3 (G1034C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377935	NM_001389683.1(GOLGA3):c.3339A>T (p.Glu1113Asp)	GOLGA3 (E1113D +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 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 2348924	NM_001389683.1(GOLGA3):c.3055G>C (p.Ala1019Pro)	GOLGA3 (A1019P +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 2309537	NM_001389683.1(GOLGA3):c.3007G>A (p.Val1003Met)	GOLGA3 (V1003M +2 more)	Single nucleotide variant (missense variant)	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 2328152	NM_001389683.1(GOLGA3):c.2963C>T (p.Ala988Val)	GOLGA3 (A948V +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 791635	NM_001389683.1(GOLGA3):c.2931G>A (p.Lys977=)	GOLGA3	Single nucleotide variant (synonymous variant)	not provided	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 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 3025539	NM_001389683.1(GOLGA3):c.2862G>A (p.Glu954=)	GOLGA3	Single nucleotide variant (synonymous variant)	not provided	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 2382956	NM_001389683.1(GOLGA3):c.2774C>T (p.Ala925Val)	GOLGA3 (A834V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2267187	NM_001389683.1(GOLGA3):c.2771C>T (p.Ser924Leu)	GOLGA3 (S884L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 2643658	NM_001389683.1(GOLGA3):c.2673C>T (p.His891=)	GOLGA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 708572	NM_001389683.1(GOLGA3):c.2669T>C (p.Val890Ala)	GOLGA3 (V890A +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
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 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 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 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 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 2351916	NM_001389683.1(GOLGA3):c.2417C>T (p.Thr806Met)	GOLGA3 (T715M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403178	NM_001389683.1(GOLGA3):c.2362G>A (p.Gly788Ser)	GOLGA3 (G788S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 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 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 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 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 2379816	NM_001389683.1(GOLGA3):c.2221G>A (p.Asp741Asn)	GOLGA3 (D701N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227250	NM_001389683.1(GOLGA3):c.2204G>A (p.Ser735Asn)	GOLGA3 (S695N +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 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 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 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 2237401	NM_001389683.1(GOLGA3):c.1880C>G (p.Thr627Ser)	GOLGA3 (T587S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253175	NM_001389683.1(GOLGA3):c.1874C>T (p.Thr625Met)	GOLGA3 (T585M +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 2371621	NM_001389683.1(GOLGA3):c.1805G>A (p.Gly602Glu)	GOLGA3 (G562E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401411	NM_001389683.1(GOLGA3):c.1766G>A (p.Arg589His)	GOLGA3 (R498H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2203961	NM_001389683.1(GOLGA3):c.1706C>T (p.Ser569Leu)	GOLGA3 (S529L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778691	NM_001389683.1(GOLGA3):c.1688C>T (p.Ala563Val)	GOLGA3 (A563V +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
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 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 1338835	GRCh38/hg38 12q24.33(chr12:132804406-132944910)	LOC126861701, LOC130009274 +13 more	Copy number loss	Diaphragmatic hernia	GUncertain significance
Select item 2347484	NM_001389683.1(GOLGA3):c.1580T>G (p.Leu527Arg)	GOLGA3 (L487R +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 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 2643660	NM_001389683.1(GOLGA3):c.1497G>A (p.Ala499=)	GOLGA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2340541	NM_001389683.1(GOLGA3):c.1495G>A (p.Ala499Thr)	GOLGA3 (A459T +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 2204608	NM_001389683.1(GOLGA3):c.1448C>A (p.Ala483Asp)	GOLGA3 (A392D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

<< First< Prev

Page of 2