"Ambry Genetics"[submitter] AND "CEP83"[gene] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3307996	NM_005761.3(PLXNC1):c.3610G>A (p.Val1204Ile)	CEP83, PLXNC1 (V1204I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3307993	NM_005761.3(PLXNC1):c.3626C>T (p.Pro1209Leu)	CEP83, PLXNC1 (P1209L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552494	NM_005761.3(PLXNC1):c.3634G>A (p.Glu1212Lys)	CEP83, PLXNC1 (E1212K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513256	NM_005761.3(PLXNC1):c.3640G>A (p.Ala1214Thr)	CEP83, PLXNC1 (A1214T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379183	NM_005761.3(PLXNC1):c.3668A>G (p.Asn1223Ser)	CEP83, PLXNC1 (N1223S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215724	NM_005761.3(PLXNC1):c.3796C>A (p.Gln1266Lys)	CEP83, PLXNC1 (Q1266K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215725	NM_005761.3(PLXNC1):c.3829G>A (p.Val1277Met)	CEP83, PLXNC1 (V1277M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385632	NM_005761.3(PLXNC1):c.3980C>T (p.Ser1327Leu)	CEP83, PLXNC1 (S1327L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215726	NM_005761.3(PLXNC1):c.4067C>T (p.Ser1356Leu)	CEP83, PLXNC1 (S1356L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215727	NM_005761.3(PLXNC1):c.4079C>G (p.Ala1360Gly)	CEP83, PLXNC1 (A1360G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291661	NM_005761.3(PLXNC1):c.4275C>A (p.Asn1425Lys)	CEP83, PLXNC1 (N1425K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329429	NM_005761.3(PLXNC1):c.4330G>A (p.Val1444Met)	CEP83, PLXNC1 (V1444M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318325	NM_005761.3(PLXNC1):c.4397C>T (p.Thr1466Ile)	CEP83, PLXNC1 (T1466I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378898	NM_005761.3(PLXNC1):c.4585G>A (p.Val1529Ile)	CEP83, PLXNC1 (V1529I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593493	NM_005761.3(PLXNC1):c.4628G>A (p.Arg1543Gln)	CEP83, PLXNC1 (R1543Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3307999	NM_005761.3(PLXNC1):c.4694G>C (p.Cys1565Ser)	CEP83, PLXNC1 (C1565S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1444752	NM_016122.3(CEP83):c.2035C>T (p.Arg679Cys)	CEP83 (R575C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2335432	NM_016122.3(CEP83):c.2015A>T (p.Gln672Leu)	CEP83 (Q568L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2619767	NM_016122.3(CEP83):c.1865T>C (p.Ile622Thr)	CEP83 (I622T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2238257	NM_016122.3(CEP83):c.1823C>A (p.Pro608His)	CEP83 (P533H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1024951	NM_016122.3(CEP83):c.1819G>A (p.Val607Ile)	CEP83 (V503I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 942089	NM_016122.3(CEP83):c.1660A>T (p.Asn554Tyr)	CEP83 (N450Y +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 944061	NM_016122.3(CEP83):c.1544G>A (p.Ser515Asn)	CEP83 (S411N +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 18 +1 more	GUncertain significance
Select item 1989275	NM_016122.3(CEP83):c.1514G>A (p.Arg505Lys)	CEP83 (R401K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2474105	NM_016122.3(CEP83):c.1473C>G (p.Asp491Glu)	CEP83 (D387E +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3143058	NM_016122.3(CEP83):c.1448C>T (p.Thr483Ile)	CEP83 (T483I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3266276	NM_016122.3(CEP83):c.1412T>G (p.Leu471Arg)	CEP83 (L367R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3143057	NM_016122.3(CEP83):c.1409A>G (p.Asp470Gly)	CEP83 (D366G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 844499	NM_016122.3(CEP83):c.1366G>A (p.Val456Met)	CEP83 (V381M +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 18 +1 more	GUncertain significance
Select item 954200	NM_016122.3(CEP83):c.1280A>G (p.Glu427Gly)	CEP83 (E352G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1015337	NM_016122.3(CEP83):c.1273C>G (p.Gln425Glu)	CEP83 (Q321E +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1038100	NM_016122.3(CEP83):c.1244A>G (p.His415Arg)	CEP83 (H311R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 767517	NM_016122.3(CEP83):c.1232T>C (p.Met411Thr)	CEP83 (M336T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2243778	NM_016122.3(CEP83):c.1217C>T (p.Ala406Val)	CEP83 (A302V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2151274	NM_016122.3(CEP83):c.1180T>G (p.Leu394Val)	CEP83 (L394V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2596184	NM_016122.3(CEP83):c.1133G>A (p.Arg378His)	CEP83 (R274H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 968898	NM_016122.3(CEP83):c.1009C>A (p.Leu337Ile)	CEP83 (L337I +3 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 18 +1 more	GUncertain significance
Select item 1027187	NM_016122.3(CEP83):c.932A>C (p.Lys311Thr)	CEP83 (K132T +3 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 18 +1 more	GUncertain significance
Select item 2226889	NM_016122.3(CEP83):c.836G>A (p.Arg279His)	CEP83 (R204H +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 849614	NM_016122.3(CEP83):c.796C>G (p.Leu266Val)	CEP83 (L162V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1034757	NM_016122.3(CEP83):c.742G>A (p.Ala248Thr)	CEP83 (A144T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1360812	NM_016122.3(CEP83):c.671T>C (p.Leu224Ser)	CEP83 (L149S +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1039330	NM_016122.3(CEP83):c.563A>C (p.Glu188Ala)	CEP83 (E9A +3 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 18 +1 more	GUncertain significance
Select item 3266275	NM_016122.3(CEP83):c.466A>G (p.Thr156Ala)	CEP83 (T156A +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2339798	NM_016122.3(CEP83):c.461A>T (p.Glu154Val)	CEP83 (E50V +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1354811	NM_016122.3(CEP83):c.434G>T (p.Arg145Ile)	CEP83 (R145I +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1358896	NM_016122.3(CEP83):c.397C>T (p.Arg133Cys)	CEP83 (R133C +1 more)	Single nucleotide variant (missense variant +2 more)	Nephronophthisis 18 +2 more	GUncertain significance
Select item 960794	NM_016122.3(CEP83):c.257T>A (p.Leu86His)	CEP83 (L86H)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1054525	NM_016122.3(CEP83):c.256C>T (p.Leu86Phe)	CEP83 (L86F)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1418934	NM_016122.3(CEP83):c.166C>T (p.His56Tyr)	CEP83 (H56Y)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2481761	NM_016122.3(CEP83):c.107T>C (p.Ile36Thr)	CEP83 (I36T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1395790	NM_016122.3(CEP83):c.50C>T (p.Pro17Leu)	CEP83 (P17L)	Single nucleotide variant (missense variant +2 more)	Nephronophthisis 18 +1 more	GUncertain significance
Select item 2195606	NM_016122.3(CEP83):c.48T>G (p.Phe16Leu)	CEP83 (F16L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance

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Items: 53