PLXNC1[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	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 149680	GRCh38/hg38 12q21.33-22(chr12:90996508-94872818)x1	LINC02397, LINC02404 +169 more	Copy number loss	See cases	GLikely pathogenic
Select item 154380	GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	ABTB3, ACACB +712 more	Copy number gain	See cases	GPathogenic
Select item 145323	GRCh38/hg38 12q22(chr12:93374113-94267175)x3	CEP83, CRADD +49 more	Copy number gain	See cases	GUncertain significance
Select item 3215712	NM_005761.3(PLXNC1):c.11C>T (p.Ser4Phe)	LOC130008440, PLXNC1 (S4F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366953	NM_005761.3(PLXNC1):c.26C>T (p.Pro9Leu)	LOC130008440, PLXNC1 (P9L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482016	NM_005761.3(PLXNC1):c.37C>A (p.Pro13Thr)	LOC130008440, PLXNC1 (P13T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553613	NM_005761.3(PLXNC1):c.50C>G (p.Ala17Gly)	LOC130008440, PLXNC1 (A17G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534458	NM_005761.3(PLXNC1):c.223A>C (p.Ser75Arg)	LOC130008441, PLXNC1 (S75R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2534459	NM_005761.3(PLXNC1):c.225C>G (p.Ser75Arg)	LOC130008441, PLXNC1 (S75R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3215717	NM_005761.3(PLXNC1):c.241C>G (p.Arg81Gly)	LOC130008441, PLXNC1 (R81G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222485	NM_005761.3(PLXNC1):c.258C>G (p.Asn86Lys)	LOC130008441, PLXNC1 (N86K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534460	NM_005761.3(PLXNC1):c.274T>C (p.Ser92Pro)	LOC130008441, PLXNC1 (S92P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534461	NM_005761.3(PLXNC1):c.280G>A (p.Ala94Thr)	LOC130008441, PLXNC1 (A94T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215723	NM_005761.3(PLXNC1):c.350C>T (p.Ala117Val)	LOC130008441, PLXNC1 (A117V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343962	NM_005761.3(PLXNC1):c.496G>A (p.Val166Met)	PLXNC1 (V166M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213400	NM_005761.3(PLXNC1):c.505G>A (p.Ala169Thr)	PLXNC1 (A169T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534462	NM_005761.3(PLXNC1):c.512G>C (p.Arg171Pro)	PLXNC1 (R171P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534464	NM_005761.3(PLXNC1):c.514A>C (p.Asn172His)	PLXNC1 (N172H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534465	NM_005761.3(PLXNC1):c.516C>G (p.Asn172Lys)	PLXNC1 (N172K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534466	NM_005761.3(PLXNC1):c.602A>G (p.His201Arg)	PLXNC1 (H201R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2534467	NM_005761.3(PLXNC1):c.605A>G (p.Asp202Gly)	PLXNC1 (D202G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534468	NM_005761.3(PLXNC1):c.606C>A (p.Asp202Glu)	PLXNC1 (D202E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534469	NM_005761.3(PLXNC1):c.608C>T (p.Thr203Met)	PLXNC1 (T203M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534470	NM_005761.3(PLXNC1):c.671A>G (p.Lys224Arg)	LOC130008442, PLXNC1 (K224R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534471	NM_005761.3(PLXNC1):c.676T>C (p.Cys226Arg)	LOC130008442, PLXNC1 (C226R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2534472	NM_005761.3(PLXNC1):c.686C>G (p.Ala229Gly)	LOC130008442, PLXNC1 (A229G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358919	NM_005761.3(PLXNC1):c.724G>C (p.Gly242Arg)	LOC130008442, PLXNC1 (G242R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346611	NM_005761.3(PLXNC1):c.779G>C (p.Gly260Ala)	PLXNC1 (G260A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215728	NM_005761.3(PLXNC1):c.797G>T (p.Arg266Leu)	PLXNC1 (R266L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518567	NM_005761.3(PLXNC1):c.805C>A (p.Gln269Lys)	PLXNC1 (Q269K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534473	NM_005761.3(PLXNC1):c.812C>A (p.Thr271Asn)	PLXNC1 (T271N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534475	NM_005761.3(PLXNC1):c.838T>G (p.Ser280Ala)	PLXNC1 (S280A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2365278	NM_005761.3(PLXNC1):c.913G>A (p.Val305Ile)	PLXNC1 (V305I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534476	NM_005761.3(PLXNC1):c.940G>A (p.Ala314Thr)	PLXNC1 (A314T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3215711	NM_005761.3(PLXNC1):c.1012G>T (p.Ala338Ser)	PLXNC1 (A338S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235718	NM_005761.3(PLXNC1):c.1121C>T (p.Ser374Phe)	PLXNC1 (S374F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541272	NM_005761.3(PLXNC1):c.1163C>T (p.Thr388Ile)	PLXNC1 (T388I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390966	NM_005761.3(PLXNC1):c.1250A>G (p.Tyr417Cys)	PLXNC1 (Y417C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222160	NM_005761.3(PLXNC1):c.1403C>T (p.Thr468Ile)	PLXNC1 (T468I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521610	NM_005761.3(PLXNC1):c.1430C>T (p.Ser477Leu)	PLXNC1 (S477L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775313	NM_005761.3(PLXNC1):c.1480G>C (p.Glu494Gln)	PLXNC1 (E494Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2310190	NM_005761.3(PLXNC1):c.1481A>C (p.Glu494Ala)	PLXNC1 (E494A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262862	NM_005761.3(PLXNC1):c.1498T>G (p.Ser500Ala)	PLXNC1 (S500A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 731242	NM_005761.3(PLXNC1):c.1555-6G>A	PLXNC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2596078	NM_005761.3(PLXNC1):c.1567A>G (p.Met523Val)	PLXNC1 (M523V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 768571	NM_005761.3(PLXNC1):c.1627A>T (p.Arg543Trp)	PLXNC1 (R543W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2605812	NM_005761.3(PLXNC1):c.1639C>G (p.Gln547Glu)	PLXNC1 (Q547E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399471	NM_005761.3(PLXNC1):c.1646A>G (p.Lys549Arg)	PLXNC1 (K549R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2237482	NM_005761.3(PLXNC1):c.1660C>T (p.Arg554Trp)	PLXNC1 (R554W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643218	NM_005761.3(PLXNC1):c.1783T>C (p.Leu595=)	PLXNC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3215713	NM_005761.3(PLXNC1):c.1799C>A (p.Ala600Glu)	PLXNC1 (A600E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403979	NM_005761.3(PLXNC1):c.1804G>A (p.Val602Ile)	PLXNC1 (V602I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 774706	NM_005761.3(PLXNC1):c.1821G>A (p.Ala607=)	PLXNC1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2293067	NM_005761.3(PLXNC1):c.1838G>A (p.Arg613Lys)	PLXNC1 (R613K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215714	NM_005761.3(PLXNC1):c.1867G>A (p.Asp623Asn)	PLXNC1 (D623N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383971	NM_005761.3(PLXNC1):c.1928G>A (p.Gly643Glu)	PLXNC1 (G643E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215715	NM_005761.3(PLXNC1):c.1951A>C (p.Lys651Gln)	PLXNC1 (K651Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384726	NM_005761.3(PLXNC1):c.1960A>G (p.Arg654Gly)	PLXNC1 (R654G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619686	NM_005761.3(PLXNC1):c.2155A>G (p.Met719Val)	PLXNC1 (M719V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285333	NM_005761.3(PLXNC1):c.2312A>G (p.Asn771Ser)	PLXNC1 (N771S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215716	NM_005761.3(PLXNC1):c.2365C>G (p.His789Asp)	PLXNC1 (H789D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265230	NM_005761.3(PLXNC1):c.2374A>C (p.Lys792Gln)	PLXNC1 (K792Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247133	NM_005761.3(PLXNC1):c.2408C>T (p.Ala803Val)	PLXNC1 (A803V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215718	NM_005761.3(PLXNC1):c.2456G>A (p.Arg819His)	PLXNC1 (R819H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524439	NM_005761.3(PLXNC1):c.2494T>C (p.Tyr832His)	PLXNC1 (Y832H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233554	NM_005761.3(PLXNC1):c.2526G>T (p.Glu842Asp)	PLXNC1 (E842D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318071	NM_005761.3(PLXNC1):c.3082C>T (p.Pro1028Ser)	PLXNC1 (P1028S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215720	NM_005761.3(PLXNC1):c.3122T>G (p.Met1041Arg)	PLXNC1 (M1041R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 728456	NM_005761.3(PLXNC1):c.3141C>T (p.Asn1047=)	PLXNC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2526247	NM_005761.3(PLXNC1):c.3152A>G (p.Glu1051Gly)	PLXNC1 (E1051G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288587	NM_005761.3(PLXNC1):c.3160A>G (p.Thr1054Ala)	PLXNC1 (T1054A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215721	NM_005761.3(PLXNC1):c.3356A>T (p.Asn1119Ile)	PLXNC1 (N1119I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221071	NM_005761.3(PLXNC1):c.3394G>A (p.Val1132Ile)	PLXNC1 (V1132I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535410	NM_005761.3(PLXNC1):c.3466C>G (p.Pro1156Ala)	PLXNC1 (P1156A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519181	NM_005761.3(PLXNC1):c.3517G>A (p.Val1173Met)	PLXNC1 (V1173M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2643219	NM_005761.3(PLXNC1):c.3570G>A (p.Leu1190=)	PLXNC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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)	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 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)	CEP83, PLXNC1 (S1327L)	Single nucleotide variant (missense variant +1 more)	not specified	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 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 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)	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 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)	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 1040981	NC_000012.11:g.(?_94634261)_(94806266_?)dup	CEP83, PLXNC1	Duplication	Nephronophthisis 18	GUncertain significance

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