ClinVar for Gene (Select 51134) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 3061837	NM_016122.3(CEP83):c.1588G>T (p.Glu530Ter)	CEP83 (E426* +2 more)	Single nucleotide variant (nonsense +1 more)	Ciliopathy	GLikely pathogenic
Select item 3036188	NM_016122.3(CEP83):c.1638C>T (p.Ile546=)	CEP83	Single nucleotide variant (synonymous variant +1 more)	CEP83-related disorder	GLikely benign
Select item 3032429	NM_016122.3(CEP83):c.1308A>T (p.Ala436=)	CEP83	Single nucleotide variant (synonymous variant +1 more)	CEP83-related disorder	GLikely benign
Select item 3031268	NM_016122.3(CEP83):c.1296T>C (p.Ala432=)	CEP83	Single nucleotide variant (synonymous variant +1 more)	CEP83-related disorder	GLikely benign
Select item 3018650	NM_016122.3(CEP83):c.1812-20del	CEP83	Deletion (intron variant)	Nephronophthisis 18	GLikely benign
Select item 3005898	NM_016122.3(CEP83):c.2002-15C>G	CEP83	Single nucleotide variant (intron variant)	Nephronophthisis 18	GLikely benign
Select item 3000433	NM_016122.3(CEP83):c.873T>C (p.Asn291=)	CEP83	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis 18	GLikely benign
Select item 2999454	NM_016122.3(CEP83):c.325-9A>G	CEP83	Single nucleotide variant (intron variant)	Nephronophthisis 18	GLikely benign
Select item 2976185	NM_016122.3(CEP83):c.114A>G (p.Glu38=)	CEP83	Single nucleotide variant (synonymous variant +2 more)	Nephronophthisis 18	GLikely benign
Select item 2884186	NM_016122.3(CEP83):c.324+20T>C	CEP83	Single nucleotide variant (intron variant)	Nephronophthisis 18	GLikely benign
Select item 2852972	NM_016122.3(CEP83):c.802-18A>G	CEP83	Single nucleotide variant (intron variant)	Nephronophthisis 18	GLikely benign
Select item 2848866	NM_016122.3(CEP83):c.2061A>G (p.Thr687=)	CEP83	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis 18	GLikely benign
Select item 2825873	NM_016122.3(CEP83):c.2002-12C>G	CEP83	Single nucleotide variant (intron variant)	Nephronophthisis 18	GUncertain significance
Select item 2818985	NM_016122.3(CEP83):c.360C>A (p.Ala120=)	CEP83	Single nucleotide variant (synonymous variant +2 more)	Nephronophthisis 18	GLikely benign
Select item 2806257	NM_016122.3(CEP83):c.462A>G (p.Glu154=)	CEP83	Single nucleotide variant (synonymous variant +2 more)	Nephronophthisis 18	GLikely benign
Select item 2801052	NM_016122.3(CEP83):c.1824T>C (p.Pro608=)	CEP83	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis 18	GLikely benign
Select item 2797462	NM_016122.3(CEP83):c.651A>G (p.Lys217=)	CEP83	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis 18	GLikely benign
Select item 2788029	NM_016122.3(CEP83):c.474C>G (p.Leu158=)	CEP83	Single nucleotide variant (synonymous variant +2 more)	Nephronophthisis 18	GLikely benign
Select item 2786472	NM_016122.3(CEP83):c.495G>A (p.Gln165=)	CEP83	Single nucleotide variant (intron variant +2 more)	Nephronophthisis 18	GLikely benign
Select item 2768523	NM_016122.3(CEP83):c.1419+17G>T	CEP83	Single nucleotide variant (intron variant)	Nephronophthisis 18	GLikely benign
Select item 2766966	NM_016122.3(CEP83):c.888T>C (p.Asn296=)	CEP83	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis 18	GLikely benign
Select item 2759941	NM_016122.3(CEP83):c.1564C>T (p.Leu522=)	CEP83	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis 18	GLikely benign
Select item 2756615	NM_016122.3(CEP83):c.1729A>T (p.Lys577Ter)	CEP83 (K577* +2 more)	Single nucleotide variant (nonsense +1 more)	Nephronophthisis 18	GPathogenic
Select item 2751641	NM_016122.3(CEP83):c.639T>C (p.Leu213=)	CEP83	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis 18	GLikely benign
Select item 2745736	NM_016122.3(CEP83):c.525A>G (p.Glu175=)	CEP83	Single nucleotide variant (synonymous variant +2 more)	Nephronophthisis 18	GLikely benign
Select item 2740969	NM_016122.3(CEP83):c.786A>T (p.Thr262=)	CEP83	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis 18	GLikely benign
Select item 2729193	NM_016122.3(CEP83):c.1580del (p.Thr527fs)	CEP83 (T527fs +2 more)	Deletion (frameshift variant +1 more)	Nephronophthisis 18	GPathogenic
Select item 2726815	NM_016122.3(CEP83):c.1566A>G (p.Leu522=)	CEP83	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis 18	GLikely benign
Select item 2721736	NM_016122.3(CEP83):c.1183C>T (p.Gln395Ter)	CEP83 (Q395* +2 more)	Single nucleotide variant (nonsense +1 more)	Nephronophthisis 18	GPathogenic
Select item 2717163	NM_016122.3(CEP83):c.1971C>T (p.Ser657=)	CEP83	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis 18	GLikely benign
Select item 2707715	NM_016122.3(CEP83):c.1170del (p.Lys390fs)	CEP83 (K286fs +2 more)	Deletion (frameshift variant +1 more)	Nephronophthisis 18	GPathogenic
Select item 2704576	NM_016122.3(CEP83):c.827G>C (p.Arg276Pro)	CEP83 (R201P +3 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 18	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 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 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 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 2498566	NM_016122.3(CEP83):c.549+5G>A	CEP83	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2498565	NM_016122.3(CEP83):c.1708-2_1708-1insTC	CEP83	Insertion (splice acceptor variant)	not provided	GLikely pathogenic
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 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 2446064	NM_016122.3(CEP83):c.835_837delinsTGC (p.Arg279Cys)	CEP83 (R100C +3 more)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 2426269	NC_000012.11:g.(?_94794606)_(94806266_?)del	CEP83	Deletion	Nephronophthisis 18	GPathogenic
Select item 2421253	NM_016122.3(CEP83):c.398G>A (p.Arg133His)	CEP83 (R133H +1 more)	Single nucleotide variant (missense variant +2 more)	Nephronophthisis 18	GUncertain significance
Select item 2420582	NM_016122.3(CEP83):c.417+16T>C	CEP83	Single nucleotide variant (intron variant)	Nephronophthisis 18	GLikely benign
Select item 2419008	NM_016122.3(CEP83):c.1948C>T (p.Gln650Ter)	CEP83 (Q546* +2 more)	Single nucleotide variant (nonsense +1 more)	Nephronophthisis 18	GPathogenic
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 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 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 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 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 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 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 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 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 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 2199951	NM_016122.3(CEP83):c.1617G>A (p.Lys539=)	CEP83	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis 18	GLikely benign
Select item 2199129	NM_016122.3(CEP83):c.933+4A>C	CEP83	Single nucleotide variant (intron variant)	Nephronophthisis 18	GUncertain significance
Select item 2197520	NM_016122.3(CEP83):c.1394A>C (p.Lys465Thr)	CEP83 (K361T +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 18	GUncertain significance
Select item 2195606	NM_016122.3(CEP83):c.48T>G (p.Phe16Leu)	CEP83 (F16L)	Single nucleotide variant (missense variant +2 more)	Nephronophthisis 18	GUncertain significance
Select item 2193609	NM_016122.3(CEP83):c.2036G>A (p.Arg679His)	CEP83 (R604H +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 18	GLikely benign
Select item 2187670	NM_016122.3(CEP83):c.1578-17A>G	CEP83	Single nucleotide variant (intron variant)	Nephronophthisis 18	GLikely benign
Select item 2184743	NM_016122.3(CEP83):c.1804T>C (p.Leu602=)	CEP83	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis 18	GLikely benign
Select item 2184722	NM_016122.3(CEP83):c.418-8C>T	CEP83	Single nucleotide variant (intron variant)	Nephronophthisis 18	GLikely benign
Select item 2180118	NM_016122.3(CEP83):c.216C>T (p.His72=)	CEP83	Single nucleotide variant (synonymous variant +2 more)	Nephronophthisis 18	GLikely benign
Select item 2167696	NM_016122.3(CEP83):c.948A>G (p.Lys316=)	CEP83	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis 18	GLikely benign
Select item 2167119	NM_016122.3(CEP83):c.445A>G (p.Asn149Asp)	CEP83 (N45D +1 more)	Single nucleotide variant (missense variant +2 more)	Nephronophthisis 18	GUncertain significance
Select item 2164348	NM_016122.3(CEP83):c.655T>C (p.Tyr219His)	CEP83 (Y144H +3 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 18	GUncertain significance
Select item 2159017	NM_016122.3(CEP83):c.205G>A (p.Glu69Lys)	CEP83 (E69K)	Single nucleotide variant (5 prime UTR variant +2 more)	Nephronophthisis 18	GUncertain significance
Select item 2158663	NM_016122.3(CEP83):c.711A>G (p.Glu237=)	CEP83	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis 18	GLikely benign
Select item 2158336	NM_016122.3(CEP83):c.1151AAG[2] (p.Glu386del)	CEP83 (E282del +2 more)	Microsatellite (inframe_deletion +1 more)	Nephronophthisis 18	GUncertain significance
Select item 2158334	NM_016122.3(CEP83):c.1281A>G (p.Glu427=)	CEP83	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis 18	GLikely benign
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 2149383	NM_016122.3(CEP83):c.1343+8A>T	CEP83	Single nucleotide variant (intron variant)	Nephronophthisis 18	GLikely benign
Select item 2148610	NM_016122.3(CEP83):c.1770A>G (p.Ala590=)	CEP83	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis 18	GLikely benign
Select item 2139369	NM_016122.3(CEP83):c.2002-18del	CEP83	Deletion (intron variant)	Nephronophthisis 18	GLikely benign
Select item 2133225	NM_016122.3(CEP83):c.1446G>A (p.Val482=)	CEP83	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis 18	GLikely benign
Select item 2128248	NM_016122.3(CEP83):c.903T>G (p.Ala301=)	CEP83	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis 18	GLikely benign
Select item 2126403	NM_016122.3(CEP83):c.1645A>G (p.Arg549Gly)	CEP83 (R445G +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 18	GUncertain significance
Select item 2125476	NM_016122.3(CEP83):c.1193+10T>C	CEP83	Single nucleotide variant (intron variant)	Nephronophthisis 18	GLikely benign
Select item 2123421	NM_016122.3(CEP83):c.490C>G (p.His164Asp)	CEP83 (H164D +1 more)	Single nucleotide variant (missense variant +2 more)	Nephronophthisis 18	GUncertain significance
Select item 2122108	NM_016122.3(CEP83):c.1177G>A (p.Val393Ile)	CEP83 (V318I +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 18	GUncertain significance
Select item 2119409	NM_016122.3(CEP83):c.174-8A>C	CEP83	Single nucleotide variant (intron variant)	Nephronophthisis 18	GLikely benign
Select item 2117716	NM_016122.3(CEP83):c.549+14T>C	CEP83	Single nucleotide variant (intron variant)	Nephronophthisis 18	GLikely benign
Select item 2115431	NM_016122.3(CEP83):c.1812-9_1812-5del	CEP83	Deletion (intron variant)	Nephronophthisis 18	GUncertain significance
Select item 2115344	NM_016122.3(CEP83):c.507T>C (p.Tyr169=)	CEP83	Single nucleotide variant (synonymous variant +2 more)	Nephronophthisis 18	GLikely benign
Select item 2115151	NM_016122.3(CEP83):c.2066A>G (p.Gln689Arg)	CEP83 (Q689R +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 18	GUncertain significance
Select item 2113216	NM_016122.3(CEP83):c.1577+13C>T	CEP83	Single nucleotide variant (intron variant)	Nephronophthisis 18	GLikely benign
Select item 2111791	NM_016122.3(CEP83):c.404G>C (p.Arg135Thr)	CEP83 (R135T +1 more)	Single nucleotide variant (missense variant +2 more)	Nephronophthisis 18	GUncertain significance
Select item 2105740	NM_016122.3(CEP83):c.933+19_933+20del	CEP83	Deletion (intron variant)	Nephronophthisis 18	GLikely benign
Select item 2101714	NM_016122.3(CEP83):c.802-7A>G	CEP83	Single nucleotide variant (intron variant)	Nephronophthisis 18	GLikely benign
Select item 2097913	NM_016122.3(CEP83):c.2028T>C (p.Ser676=)	CEP83	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis 18	GLikely benign
Select item 2097454	NM_016122.3(CEP83):c.1112A>C (p.Glu371Ala)	CEP83 (E296A +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 18	GUncertain significance

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