ClinVar for Gene (Select 653489) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3314032	NM_001144013.2(RGPD3):c.1387C>T (p.His463Tyr)	RGPD3 (H463Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314031	NM_001144013.2(RGPD3):c.2194G>C (p.Val732Leu)	RGPD3 (V732L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314030	NM_001144013.2(RGPD3):c.2132A>G (p.Tyr711Cys)	RGPD3 (Y711C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314029	NM_001144013.2(RGPD3):c.1489C>T (p.His497Tyr)	RGPD3 (H497Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314028	NM_001144013.2(RGPD3):c.4330T>G (p.Leu1444Val)	RGPD3 (L1444V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314027	NM_001144013.2(RGPD3):c.2998G>A (p.Gly1000Arg)	RGPD3 (G1000R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314026	NM_001144013.2(RGPD3):c.4814C>T (p.Ser1605Leu)	RGPD3 (S1605L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314025	NM_001144013.2(RGPD3):c.677G>C (p.Ser226Thr)	RGPD3 (S226T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314023	NM_001144013.2(RGPD3):c.4438C>T (p.Arg1480Trp)	RGPD3 (R1480W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314022	NM_001144013.2(RGPD3):c.2819C>A (p.Pro940His)	RGPD3 (P940H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314021	NM_001144013.2(RGPD3):c.2818C>T (p.Pro940Ser)	RGPD3 (P940S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314020	NM_001144013.2(RGPD3):c.5011G>A (p.Gly1671Ser)	RGPD3 (G1671S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314019	NM_001144013.2(RGPD3):c.3499T>C (p.Cys1167Arg)	RGPD3 (C1167R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314018	NM_001144013.2(RGPD3):c.4880C>T (p.Thr1627Met)	RGPD3 (T1627M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314017	NM_001144013.2(RGPD3):c.4259T>C (p.Met1420Thr)	RGPD3 (M1420T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314016	NM_001144013.2(RGPD3):c.154T>G (p.Tyr52Asp)	RGPD3 (Y52D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314015	NM_001144013.2(RGPD3):c.4276G>C (p.Val1426Leu)	RGPD3 (V1426L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314014	NM_001144013.2(RGPD3):c.5080A>G (p.Ile1694Val)	RGPD3 (I1694V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3250835	NM_001144013.2(RGPD3):c.2220G>T (p.Leu740=)	RGPD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3153689	NM_001144013.2(RGPD3):c.718G>A (p.Ala240Thr)	RGPD3 (A240T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153688	NM_001144013.2(RGPD3):c.5255C>T (p.Ala1752Val)	RGPD3 (A1752V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153687	NM_001144013.2(RGPD3):c.5207T>C (p.Ile1736Thr)	RGPD3 (I1736T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153686	NM_001144013.2(RGPD3):c.4940A>G (p.Tyr1647Cys)	RGPD3 (Y1647C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153685	NM_001144013.2(RGPD3):c.4939T>A (p.Tyr1647Asn)	RGPD3 (Y1647N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153684	NM_001144013.2(RGPD3):c.4837T>G (p.Ser1613Ala)	RGPD3 (S1613A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153683	NM_001144013.2(RGPD3):c.4827T>A (p.Asp1609Glu)	RGPD3 (D1609E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153682	NM_001144013.2(RGPD3):c.4759T>G (p.Ser1587Ala)	RGPD3 (S1587A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153681	NM_001144013.2(RGPD3):c.4544A>T (p.Asp1515Val)	RGPD3 (D1515V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153680	NM_001144013.2(RGPD3):c.4229G>C (p.Arg1410Thr)	RGPD3 (R1410T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153679	NM_001144013.2(RGPD3):c.40T>A (p.Ser14Thr)	RGPD3 (S14T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153678	NM_001144013.2(RGPD3):c.4084G>A (p.Ala1362Thr)	RGPD3 (A1362T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153676	NM_001144013.2(RGPD3):c.4040T>A (p.Val1347Glu)	RGPD3 (V1347E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153675	NM_001144013.2(RGPD3):c.3970G>T (p.Val1324Phe)	RGPD3 (V1324F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153674	NM_001144013.2(RGPD3):c.3950G>A (p.Gly1317Asp)	RGPD3 (G1317D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153673	NM_001144013.2(RGPD3):c.3935G>A (p.Ser1312Asn)	RGPD3 (S1312N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153672	NM_001144013.2(RGPD3):c.3793A>C (p.Ser1265Arg)	RGPD3 (S1265R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153671	NM_001144013.2(RGPD3):c.3688G>A (p.Gly1230Ser)	RGPD3 (G1230S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3153670	NM_001144013.2(RGPD3):c.3551A>G (p.Asp1184Gly)	RGPD3 (D1184G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153669	NM_001144013.2(RGPD3):c.3506G>A (p.Arg1169Gln)	RGPD3 (R1169Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153668	NM_001144013.2(RGPD3):c.3437G>A (p.Arg1146Gln)	RGPD3 (R1146Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3153667	NM_001144013.2(RGPD3):c.3286G>C (p.Val1096Leu)	RGPD3 (V1096L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3153666	NM_001144013.2(RGPD3):c.3280G>A (p.Gly1094Ser)	RGPD3 (G1094S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153665	NM_001144013.2(RGPD3):c.3212A>G (p.Asp1071Gly)	RGPD3 (D1071G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153664	NM_001144013.2(RGPD3):c.3187C>A (p.Gln1063Lys)	RGPD3 (Q1063K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153663	NM_001144013.2(RGPD3):c.3175G>A (p.Val1059Ile)	RGPD3 (V1059I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153662	NM_001144013.2(RGPD3):c.3151G>C (p.Val1051Leu)	RGPD3 (V1051L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153661	NM_001144013.2(RGPD3):c.3125T>G (p.Val1042Gly)	RGPD3 (V1042G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153660	NM_001144013.2(RGPD3):c.3050C>T (p.Thr1017Ile)	RGPD3 (T1017I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153659	NM_001144013.2(RGPD3):c.2958T>G (p.Phe986Leu)	RGPD3 (F986L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153658	NM_001144013.2(RGPD3):c.267A>C (p.Leu89Phe)	RGPD3 (L89F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153657	NM_001144013.2(RGPD3):c.2458A>G (p.Lys820Glu)	RGPD3 (K820E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3153656	NM_001144013.2(RGPD3):c.2452G>C (p.Glu818Gln)	RGPD3 (E818Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3153655	NM_001144013.2(RGPD3):c.2306T>G (p.Leu769Trp)	RGPD3 (L769W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153654	NM_001144013.2(RGPD3):c.2299G>A (p.Gly767Ser)	RGPD3 (G767S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153653	NM_001144013.2(RGPD3):c.2269T>G (p.Tyr757Asp)	RGPD3 (Y757D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153651	NM_001144013.2(RGPD3):c.1873G>C (p.Glu625Gln)	RGPD3 (E625Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153650	NM_001144013.2(RGPD3):c.1790G>A (p.Arg597Gln)	RGPD3 (R597Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153648	NM_001144013.2(RGPD3):c.1580A>G (p.Glu527Gly)	RGPD3 (E527G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153647	NM_001144013.2(RGPD3):c.1555C>G (p.Pro519Ala)	RGPD3 (P519A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153646	NM_001144013.2(RGPD3):c.1440A>G (p.Ile480Met)	RGPD3 (I480M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153645	NM_001144013.2(RGPD3):c.11G>C (p.Ser4Thr)	RGPD3 (S4T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153644	NM_001144013.2(RGPD3):c.10A>C (p.Ser4Arg)	RGPD3 (S4R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062651	GRCh37/hg19 2q12.2-21.2(chr2:106755586-134302739)x1	ACOXL, ACTR3 +121 more	Copy number loss	not specified	GPathogenic
Select item 3062558	GRCh37/hg19 2q12.2-13(chr2:107032426-113111856)x1	ACOXL, ANAPC1 +27 more	Copy number loss	not specified	GPathogenic
Select item 2684642	GRCh37/hg19 2q12.2-13(chr2:107029681-113127751)x1	ACOXL, ANAPC1 +28 more	Copy number loss	not provided	GPathogenic
Select item 2651234	NM_001144013.2(RGPD3):c.711G>A (p.Leu237=)	RGPD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2651233	NM_001144013.2(RGPD3):c.2409A>T (p.Arg803=)	RGPD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2651232	NM_001144013.2(RGPD3):c.3117A>G (p.Glu1039=)	RGPD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2651231	NM_001144013.2(RGPD3):c.3124G>A (p.Val1042Ile)	RGPD3 (V1042I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2651230	NM_001144013.2(RGPD3):c.3180G>C (p.Leu1060=)	RGPD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2619206	NM_001144013.2(RGPD3):c.3393G>A (p.Met1131Ile)	RGPD3 (M1131I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612663	NM_001144013.2(RGPD3):c.4568C>G (p.Ser1523Cys)	RGPD3 (S1523C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611650	NM_001144013.2(RGPD3):c.3902G>T (p.Ser1301Ile)	RGPD3 (S1301I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595143	NM_001144013.2(RGPD3):c.4181G>A (p.Arg1394His)	RGPD3 (R1394H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590943	NM_001144013.2(RGPD3):c.571G>A (p.Ala191Thr)	RGPD3 (A191T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590317	NM_001144013.2(RGPD3):c.3646G>A (p.Val1216Ile)	RGPD3 (V1216I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590002	NM_001144013.2(RGPD3):c.4063C>A (p.Gln1355Lys)	RGPD3 (Q1355K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568495	NM_001144013.2(RGPD3):c.3344C>G (p.Thr1115Arg)	RGPD3 (T1115R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560299	NM_001144013.2(RGPD3):c.2404C>A (p.Pro802Thr)	RGPD3 (P802T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558479	NM_001144013.2(RGPD3):c.1384T>C (p.Phe462Leu)	RGPD3 (F462L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557575	NM_001144013.2(RGPD3):c.1784A>G (p.Asp595Gly)	RGPD3 (D595G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556410	NM_001144013.2(RGPD3):c.1538C>T (p.Pro513Leu)	RGPD3 (P513L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555357	NM_001144013.2(RGPD3):c.362C>A (p.Ala121Glu)	RGPD3 (A121E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541328	NM_001144013.2(RGPD3):c.2785G>A (p.Glu929Lys)	RGPD3 (E929K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541262	NM_001144013.2(RGPD3):c.1289C>A (p.Ala430Glu)	RGPD3 (A430E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529159	NM_001144013.2(RGPD3):c.3749A>T (p.Asp1250Val)	RGPD3 (D1250V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526494	NM_001144013.2(RGPD3):c.2125A>G (p.Lys709Glu)	RGPD3 (K709E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511113	NM_001144013.2(RGPD3):c.2779A>C (p.Ile927Leu)	RGPD3 (I927L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509281	NM_001144013.2(RGPD3):c.4213C>T (p.Leu1405Phe)	RGPD3 (L1405F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495274	NM_001144013.2(RGPD3):c.7T>G (p.Cys3Gly)	RGPD3 (C3G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494782	NM_001144013.2(RGPD3):c.4028A>G (p.Asp1343Gly)	RGPD3 (D1343G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493338	NM_001144013.2(RGPD3):c.1393T>G (p.Leu465Val)	RGPD3 (L465V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492889	NM_001144013.2(RGPD3):c.1595G>C (p.Trp532Ser)	RGPD3 (W532S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483801	NM_001144013.2(RGPD3):c.4758T>A (p.Ser1586Arg)	RGPD3 (S1586R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483694	NM_001144013.2(RGPD3):c.3500G>A (p.Cys1167Tyr)	RGPD3 (C1167Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482929	NM_001144013.2(RGPD3):c.3670T>C (p.Ser1224Pro)	RGPD3 (S1224P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478144	NM_001144013.2(RGPD3):c.5020C>T (p.Arg1674Trp)	RGPD3 (R1674W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476480	NM_001144013.2(RGPD3):c.1897C>T (p.His633Tyr)	RGPD3 (H633Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472308	NM_001144013.2(RGPD3):c.4273A>G (p.Arg1425Gly)	RGPD3 (R1425G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472307	NM_001144013.2(RGPD3):c.3305G>A (p.Arg1102Lys)	RGPD3 (R1102K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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