GOLGA3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	ANKLE2, ARL6IP4 +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	ZNF664, ZNF664-RFLNA +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	LOC130009168, LOC130009169 +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	ANKLE2, CHFR +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)	Inborn genetic diseases	GUncertain significance
Select item 2351646	NM_001389683.1(GOLGA3):c.4435C>G (p.Pro1479Ala)	GOLGA3 (P1388A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459851	NM_001389683.1(GOLGA3):c.4423G>T (p.Gly1475Cys)	GOLGA3 (G1384C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398371	NM_001389683.1(GOLGA3):c.4382C>T (p.Thr1461Met)	GOLGA3 (T1370M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2456179	NM_001389683.1(GOLGA3):c.4355C>T (p.Thr1452Met)	GOLGA3 (T1361M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2600203	NM_001389683.1(GOLGA3):c.4187C>T (p.Thr1396Met)	GOLGA3 (T1356M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517577	NM_001389683.1(GOLGA3):c.4168A>G (p.Ser1390Gly)	GOLGA3 (S1350G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474964	NM_001389683.1(GOLGA3):c.4082A>G (p.Lys1361Arg)	GOLGA3 (K1270R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353573	NM_001389683.1(GOLGA3):c.3857T>C (p.Met1286Thr)	GOLGA3 (M1286T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2523077	NM_001389683.1(GOLGA3):c.3689T>A (p.Val1230Glu)	GOLGA3 (V1139E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611936	NM_001389683.1(GOLGA3):c.3684C>G (p.His1228Gln)	GOLGA3 (H1188Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2401774	NM_001389683.1(GOLGA3):c.3659A>C (p.Lys1220Thr)	GOLGA3 (K1129T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325024	NM_001389683.1(GOLGA3):c.3605C>G (p.Ala1202Gly)	GOLGA3 (A1162G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327878	NM_001389683.1(GOLGA3):c.3595A>G (p.Lys1199Glu)	GOLGA3 (K1108E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2395281	NM_001389683.1(GOLGA3):c.3427G>T (p.Ala1143Ser)	GOLGA3 (A1052S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488846	NM_001389683.1(GOLGA3):c.3385G>A (p.Ala1129Thr)	GOLGA3 (A1089T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330411	NM_001389683.1(GOLGA3):c.3373G>T (p.Gly1125Cys)	GOLGA3 (G1034C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377935	NM_001389683.1(GOLGA3):c.3339A>T (p.Glu1113Asp)	GOLGA3 (E1113D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513146	NM_001389683.1(GOLGA3):c.3055G>T (p.Ala1019Ser)	GOLGA3 (A1019S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2348924	NM_001389683.1(GOLGA3):c.3055G>C (p.Ala1019Pro)	GOLGA3 (A1019P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596975	NM_001389683.1(GOLGA3):c.3044C>T (p.Ala1015Val)	GOLGA3 (A1015V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309537	NM_001389683.1(GOLGA3):c.3007G>A (p.Val1003Met)	GOLGA3 (V1003M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328152	NM_001389683.1(GOLGA3):c.2963C>T (p.Ala988Val)	GOLGA3 (A948V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2560160	NM_001389683.1(GOLGA3):c.2961C>A (p.Ser987Arg)	GOLGA3 (S947R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	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 2382956	NM_001389683.1(GOLGA3):c.2774C>T (p.Ala925Val)	GOLGA3 (A834V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2267187	NM_001389683.1(GOLGA3):c.2771C>T (p.Ser924Leu)	GOLGA3 (S884L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605538	NM_001389683.1(GOLGA3):c.2747C>A (p.Ala916Glu)	GOLGA3 (A825E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2533803	NM_001389683.1(GOLGA3):c.2569C>T (p.Arg857Cys)	GOLGA3 (R766C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465575	NM_001389683.1(GOLGA3):c.2560G>T (p.Ala854Ser)	GOLGA3 (A814S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483606	NM_001389683.1(GOLGA3):c.2458A>G (p.Lys820Glu)	GOLGA3 (K729E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351916	NM_001389683.1(GOLGA3):c.2417C>T (p.Thr806Met)	GOLGA3 (T715M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2403178	NM_001389683.1(GOLGA3):c.2362G>A (p.Gly788Ser)	GOLGA3 (G788S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2594956	NM_001389683.1(GOLGA3):c.2339C>T (p.Ala780Val)	GOLGA3 (A689V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2615456	NM_001389683.1(GOLGA3):c.2297A>G (p.Asp766Gly)	GOLGA3 (D675G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2558198	NM_001389683.1(GOLGA3):c.2297A>T (p.Asp766Val)	GOLGA3 (D675V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2558197	NM_001389683.1(GOLGA3):c.2296G>T (p.Asp766Tyr)	GOLGA3 (D726Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2548023	NM_001389683.1(GOLGA3):c.2224G>A (p.Ala742Thr)	GOLGA3 (A742T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2379816	NM_001389683.1(GOLGA3):c.2221G>A (p.Asp741Asn)	GOLGA3 (D701N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227250	NM_001389683.1(GOLGA3):c.2204G>A (p.Ser735Asn)	GOLGA3 (S695N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2559671	NM_001389683.1(GOLGA3):c.2075C>T (p.Ala692Val)	GOLGA3 (A601V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2592760	NM_001389683.1(GOLGA3):c.1994T>C (p.Met665Thr)	GOLGA3 (M574T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237401	NM_001389683.1(GOLGA3):c.1880C>G (p.Thr627Ser)	GOLGA3 (T587S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253175	NM_001389683.1(GOLGA3):c.1874C>T (p.Thr625Met)	GOLGA3 (T585M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371621	NM_001389683.1(GOLGA3):c.1805G>A (p.Gly602Glu)	GOLGA3 (G562E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401411	NM_001389683.1(GOLGA3):c.1766G>A (p.Arg589His)	GOLGA3 (R498H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2553428	NM_001389683.1(GOLGA3):c.1603G>A (p.Asp535Asn)	GOLGA3 (D535N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1338835	GRCh38/hg38 12q24.33(chr12:132804406-132944910)	CHFR, CHFR-DT +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)	Inborn genetic diseases	GUncertain significance
Select item 2472244	NM_001389683.1(GOLGA3):c.1525G>A (p.Glu509Lys)	GOLGA3 (E418K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508636	NM_001389683.1(GOLGA3):c.1510G>A (p.Asp504Asn)	GOLGA3 (D504N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2570547	NM_001389683.1(GOLGA3):c.1468A>C (p.Met490Leu)	GOLGA3 (M450L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2204608	NM_001389683.1(GOLGA3):c.1448C>A (p.Ala483Asp)	GOLGA3 (A392D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 715428	NM_001389683.1(GOLGA3):c.1329C>T (p.Ala443=)	GOLGA3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2471262	NM_001389683.1(GOLGA3):c.1117C>G (p.Gln373Glu)	GOLGA3 (Q282E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542258	NM_001389683.1(GOLGA3):c.1109C>T (p.Ala370Val)	GOLGA3 (A330V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2232177	NM_001389683.1(GOLGA3):c.1108G>A (p.Ala370Thr)	GOLGA3 (A279T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2406144	NM_001389683.1(GOLGA3):c.1102G>A (p.Ala368Thr)	GOLGA3 (A368T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234798	NM_001389683.1(GOLGA3):c.1090G>A (p.Val364Ile)	GOLGA3 (V273I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369895	NM_001389683.1(GOLGA3):c.1061C>T (p.Thr354Ile)	GOLGA3 (T314I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382393	NM_001389683.1(GOLGA3):c.967G>A (p.Ala323Thr)	GOLGA3 (A283T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288074	NM_001389683.1(GOLGA3):c.946G>T (p.Asp316Tyr)	GOLGA3 (D225Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326811	NM_001389683.1(GOLGA3):c.917G>T (p.Ser306Ile)	GOLGA3 (S306I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489635	NM_001389683.1(GOLGA3):c.874G>A (p.Asp292Asn)	GOLGA3 (D201N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260305	NM_001389683.1(GOLGA3):c.847G>A (p.Val283Ile)	GOLGA3 (V243I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 711100	NM_001389683.1(GOLGA3):c.846C>T (p.Ser282=)	GOLGA3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2226891	NM_001389683.1(GOLGA3):c.837T>A (p.Ser279Arg)	GOLGA3 (S239R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508681	NM_001389683.1(GOLGA3):c.793G>C (p.Ala265Pro)	GOLGA3 (A265P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488235	NM_001389683.1(GOLGA3):c.767C>T (p.Ala256Val)	GOLGA3 (A216V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322044	NM_001389683.1(GOLGA3):c.452G>A (p.Arg151Gln)	GOLGA3 (R111Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515002	NM_001389683.1(GOLGA3):c.413C>T (p.Thr138Ile)	GOLGA3 (T98I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510203	NM_001389683.1(GOLGA3):c.319T>G (p.Ser107Ala)	GOLGA3 (S107A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2250607	NM_001389683.1(GOLGA3):c.257C>A (p.Thr86Lys)	GOLGA3 (T86K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2215511	NM_001389683.1(GOLGA3):c.208G>A (p.Gly70Arg)	GOLGA3 (G70R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2227796	NM_001389683.1(GOLGA3):c.132G>T (p.Gln44His)	GOLGA3 (Q44H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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