51134[Gene ID] - 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 149680	GRCh38/hg38 12q21.33-22(chr12:90996508-94872818)x1	LOC130008424, LOC130008425 +169 more	Copy number loss	See cases	GLikely pathogenic
Select item 154380	GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	LOC130008616, LOC130008617 +712 more	Copy number gain	See cases	GPathogenic
Select item 145323	GRCh38/hg38 12q22(chr12:93374113-94267175)x3	LOC130008438, LOC130008439 +49 more	Copy number gain	See cases	GUncertain significance
Select item 2552494	NM_005761.3(PLXNC1):c.3634G>A (p.Glu1212Lys)	CEP83, PLXNC1 (E1212K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2513256	NM_005761.3(PLXNC1):c.3640G>A (p.Ala1214Thr)	CEP83, PLXNC1 (A1214T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 221924	NM_005761.3(PLXNC1):c.3649T>C (p.Cys1217Arg)	CEP83, PLXNC1 (C1217R)	Single nucleotide variant (missense variant +1 more)	Anophthalmia-microphthalmia syndrome	GLikely benign
Select item 2379183	NM_005761.3(PLXNC1):c.3668A>G (p.Asn1223Ser)	CEP83, PLXNC1 (N1223S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 444305	NM_005761.3(PLXNC1):c.3879+4A>G	CEP83, PLXNC1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2385632	NM_005761.3(PLXNC1):c.3980C>T (p.Ser1327Leu)	PLXNC1, CEP83 (S1327L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 782565	NM_005761.3(PLXNC1):c.4005A>G (p.Gly1335=)	CEP83, PLXNC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 444306	NM_005761.3(PLXNC1):c.4145T>A (p.Phe1382Tyr)	CEP83, PLXNC1 (F1382Y)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 781088	NM_005761.3(PLXNC1):c.4245T>C (p.Pro1415=)	CEP83, PLXNC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2291661	NM_005761.3(PLXNC1):c.4275C>A (p.Asn1425Lys)	PLXNC1, CEP83 (N1425K)	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)	Inborn genetic diseases	GUncertain significance
Select item 776734	NM_005761.3(PLXNC1):c.4387-8T>C	CEP83, PLXNC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 769828	NM_005761.3(PLXNC1):c.4387-7T>C	CEP83, PLXNC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 710272	NM_005761.3(PLXNC1):c.4387-3dup	CEP83, PLXNC1	Duplication (intron variant)	not provided	GBenign
Select item 782130	NM_005761.3(PLXNC1):c.4387-6C>T	CEP83, PLXNC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2318325	NM_005761.3(PLXNC1):c.4397C>T (p.Thr1466Ile)	PLXNC1, CEP83 (T1466I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2378898	NM_005761.3(PLXNC1):c.4585G>A (p.Val1529Ile)	CEP83, PLXNC1 (V1529I)	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)	Inborn genetic diseases	GUncertain significance
Select item 1282433	NM_016122.3(CEP83):c.*306del	CEP83	Deletion (3 prime UTR variant +2 more)	not provided	GBenign
Select item 1338909	NM_016122.3(CEP83):c.*200T>C	CEP83	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1059602	NM_016122.3(CEP83):c.2099G>A (p.Gly700Glu)	CEP83 (G596E +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 18	GUncertain significance
Select item 845600	NM_016122.3(CEP83):c.2098G>A (p.Gly700Arg)	CEP83 (G596R +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 18	GUncertain significance
Select item 1134466	NM_016122.3(CEP83):c.2097C>T (p.Ser699=)	CEP83	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis 18	GLikely benign
Select item 736120	NM_016122.3(CEP83):c.2091A>G (p.Gly697=)	CEP83	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 139543	NM_016122.3(CEP83):c.2072AAC[1] (p.Gln692del)	CEP83 (Q692del +2 more)	Microsatellite (inframe_deletion +1 more)	Nephronophthisis 18	GPathogenic
Select item 1560186	NM_016122.3(CEP83):c.2076A>G (p.Gln692=)	CEP83	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis 18	GLikely benign
Select item 1023907	NM_016122.3(CEP83):c.2065_2075del (p.Gln689fs)	CEP83 (Q585fs +2 more)	Deletion (frameshift variant +1 more)	Nephronophthisis 18	GUncertain significance
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 2848866	NM_016122.3(CEP83):c.2061A>G (p.Thr687=)	CEP83	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis 18	GLikely benign
Select item 1145224	NM_016122.3(CEP83):c.2046A>G (p.Leu682=)	CEP83	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis 18	GLikely benign
Select item 1373551	NM_016122.3(CEP83):c.2045T>C (p.Leu682Pro)	CEP83 (L578P +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 18	GUncertain significance
Select item 1355369	NM_016122.3(CEP83):c.2043A>T (p.Arg681Ser)	CEP83 (R681S +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 18	GUncertain significance
Select item 1468027	NM_016122.3(CEP83):c.2039A>G (p.Lys680Arg)	CEP83 (K680R +2 more)	Single nucleotide variant (missense variant +1 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 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 1622662	NM_016122.3(CEP83):c.2031A>G (p.Leu677=)	CEP83	Single nucleotide variant (synonymous variant +1 more)	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 1501314	NM_016122.3(CEP83):c.2027C>G (p.Ser676Cys)	CEP83 (S601C +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 18 +1 more	GUncertain significance
Select item 954930	NM_016122.3(CEP83):c.2020G>A (p.Glu674Lys)	CEP83 (E570K +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 18	GUncertain significance
Select item 1158840	NM_016122.3(CEP83):c.2016A>G (p.Gln672=)	CEP83	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis 18	GLikely benign
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 1070747	NM_016122.3(CEP83):c.2007del (p.Glu669fs)	CEP83 (E565fs +2 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 2825873	NM_016122.3(CEP83):c.2002-12C>G	CEP83	Single nucleotide variant (intron variant)	Nephronophthisis 18	GUncertain significance
Select item 3005898	NM_016122.3(CEP83):c.2002-15C>G	CEP83	Single nucleotide variant (intron variant)	Nephronophthisis 18	GLikely benign
Select item 2139369	NM_016122.3(CEP83):c.2002-18del	CEP83	Deletion (intron variant)	Nephronophthisis 18	GLikely benign
Select item 1283126	NM_016122.3(CEP83):c.2002-244T>A	CEP83	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223340	NM_016122.3(CEP83):c.2001+284A>C	CEP83	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1614662	NM_016122.3(CEP83):c.2001+20G>T	CEP83	Single nucleotide variant (intron variant)	Nephronophthisis 18	GLikely benign
Select item 952548	NM_016122.3(CEP83):c.2000A>G (p.Gln667Arg)	CEP83 (Q563R +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 18	GUncertain significance
Select item 2004702	NM_016122.3(CEP83):c.1988C>T (p.Pro663Leu)	CEP83 (P559L +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 18	GUncertain significance
Select item 1716275	NM_016122.3(CEP83):c.1987C>A (p.Pro663Thr)	CEP83 (P559T +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 18	GUncertain significance
Select item 1104359	NM_016122.3(CEP83):c.1983A>G (p.Pro661=)	CEP83	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis 18	GLikely benign
Select item 1358890	NM_016122.3(CEP83):c.1982C>T (p.Pro661Leu)	CEP83 (P586L +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 18	GUncertain significance
Select item 2029962	NM_016122.3(CEP83):c.1980A>T (p.Leu660=)	CEP83	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis 18	GLikely benign
Select item 2082050	NM_016122.3(CEP83):c.1973T>G (p.Met658Arg)	CEP83 (M554R +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 18	GUncertain significance
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 2015604	NM_016122.3(CEP83):c.1962G>A (p.Met654Ile)	CEP83 (M579I +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 18	GUncertain significance
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 2095030	NM_016122.3(CEP83):c.1945T>C (p.Phe649Leu)	CEP83 (F545L +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 18	GUncertain significance
Select item 1022821	NM_016122.3(CEP83):c.1937C>T (p.Pro646Leu)	CEP83 (P542L +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 18	GUncertain significance
Select item 2075562	NM_016122.3(CEP83):c.1930A>G (p.Ile644Val)	CEP83 (I644V +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 18	GUncertain significance
Select item 1717556	NM_016122.3(CEP83):c.1915C>G (p.Pro639Ala)	CEP83 (P535A +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 18	GUncertain significance
Select item 1486397	NM_016122.3(CEP83):c.1895T>C (p.Leu632Pro)	CEP83 (L632P +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 18	GUncertain significance
Select item 1116778	NM_016122.3(CEP83):c.1889G>A (p.Arg630Gln)	CEP83 (R526Q +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 18	GLikely benign
Select item 578457	NM_016122.3(CEP83):c.1888C>T (p.Arg630Ter)	CEP83 (R630* +2 more)	Single nucleotide variant (nonsense +1 more)	Nephronophthisis 18	GPathogenic
Select item 1631236	NM_016122.3(CEP83):c.1878T>C (p.His626=)	CEP83	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis 18	GLikely benign
Select item 1400746	NM_016122.3(CEP83):c.1867C>T (p.Gln623Ter)	CEP83 (Q548* +2 more)	Single nucleotide variant (nonsense +1 more)	Nephronophthisis 18	GPathogenic
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 1564594	NM_016122.3(CEP83):c.1863T>C (p.Asp621=)	CEP83	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis 18	GLikely benign
Select item 1450980	NM_016122.3(CEP83):c.1853G>T (p.Arg618Ile)	CEP83 (R514I +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 18	GUncertain significance
Select item 1053367	NM_016122.3(CEP83):c.1842_1853del (p.Gln616_Leu619del)	CEP83	Deletion (inframe_deletion +1 more)	Nephronophthisis 18	GUncertain significance
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 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)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1112801	NM_016122.3(CEP83):c.1812-4T>A	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 1385320	NM_016122.3(CEP83):c.1812-6T>C	CEP83	Single nucleotide variant (intron variant)	Nephronophthisis 18	GLikely benign
Select item 1120680	NM_016122.3(CEP83):c.1812-7T>C	CEP83	Single nucleotide variant (intron variant)	Nephronophthisis 18	GLikely benign
Select item 1158415	NM_016122.3(CEP83):c.1812-8T>C	CEP83	Single nucleotide variant (intron variant)	Nephronophthisis 18	GLikely benign
Select item 3018650	NM_016122.3(CEP83):c.1812-20del	CEP83	Deletion (intron variant)	Nephronophthisis 18	GLikely benign
Select item 1182969	NM_016122.3(CEP83):c.1812-292dup	CEP83	Duplication (intron variant)	not provided	GBenign
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 1674615	NM_016122.3(CEP83):c.1791A>G (p.Thr597=)	CEP83	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis 18	GLikely benign
Select item 715121	NM_016122.3(CEP83):c.1783T>C (p.Leu595=)	CEP83	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis 18	GLikely benign
Select item 1596720	NM_016122.3(CEP83):c.1776A>G (p.Lys592=)	CEP83	Single nucleotide variant (synonymous variant +1 more)	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 1536461	NM_016122.3(CEP83):c.1761C>A (p.Val587=)	CEP83	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis 18	GLikely benign
Select item 1312032	NM_016122.3(CEP83):c.1739G>A (p.Arg580Lys)	CEP83 (R476K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1571107	NM_016122.3(CEP83):c.1713A>G (p.Lys571=)	CEP83	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis 18	GLikely benign
Select item 2498565	NM_016122.3(CEP83):c.1708-2_1708-1insTC	CEP83	Insertion (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1081767	NM_016122.3(CEP83):c.1708-5T>C	CEP83	Single nucleotide variant (intron variant)	Nephronophthisis 18	GLikely benign
Select item 1142313	NM_016122.3(CEP83):c.1708-20G>A	CEP83	Single nucleotide variant (intron variant)	Nephronophthisis 18	GLikely benign
Select item 1192751	NM_016122.3(CEP83):c.1708-61T>C	CEP83	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1338908	NM_016122.3(CEP83):c.1708-239A>G	CEP83	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1242254	NM_016122.3(CEP83):c.1708-253del	CEP83	Deletion (intron variant)	not provided	GBenign

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