"GeneDx"[submitter] AND "CNTNAP1"[gene] - ClinVar

Search results

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
Select item 1286631	NM_003632.3(CNTNAP1):c.-217G>C	CNTNAP1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1183884	NM_003632.3(CNTNAP1):c.68-225A>C	CNTNAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283421	NM_003632.3(CNTNAP1):c.68-190T>C	CNTNAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1167004	NM_003632.3(CNTNAP1):c.68-20_68-19insT	CNTNAP1, LOC125177481	Insertion (intron variant)	not provided	GBenign
Select item 803394	NM_003632.3(CNTNAP1):c.151A>C (p.Arg51=)	CNTNAP1, LOC125177481	Single nucleotide variant (synonymous variant)	Lethal congenital contracture syndrome 7 +2 more	GBenign
Select item 1703341	NM_003632.3(CNTNAP1):c.170-6C>G	CNTNAP1, LOC125177481	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 781302	NM_003632.3(CNTNAP1):c.327C>T (p.Asp109=)	CNTNAP1	Single nucleotide variant (synonymous variant)	Neuropathy, congenital hypomyelinating, 3 +2 more	GBenign/Likely benign
Select item 1167347	NM_003632.3(CNTNAP1):c.363+15A>C	CNTNAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182352	NM_003632.3(CNTNAP1):c.363+127=	CNTNAP1	Variation (intron variant)	not provided	GBenign
Select item 1210671	NM_003632.3(CNTNAP1):c.363+142C>T	CNTNAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1273552	NM_003632.3(CNTNAP1):c.363+205A>G	CNTNAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223773	NM_003632.3(CNTNAP1):c.364-127G>A	CNTNAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1217319	NM_003632.3(CNTNAP1):c.364-34A>G	CNTNAP1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 788749	NM_003632.3(CNTNAP1):c.564G>A (p.Pro188=)	CNTNAP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 775384	NM_003632.3(CNTNAP1):c.765C>T (p.Gly255=)	CNTNAP1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1241421	NM_003632.3(CNTNAP1):c.900+243dup	CNTNAP1	Duplication (intron variant)	not provided	GBenign
Select item 1242919	NM_003632.3(CNTNAP1):c.900+244T>A	CNTNAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233473	NM_003632.3(CNTNAP1):c.900+245T>A	CNTNAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1187472	NM_003632.3(CNTNAP1):c.901-254C>G	CNTNAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1239680	NM_003632.3(CNTNAP1):c.901-168C>G	CNTNAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249928	NM_003632.3(CNTNAP1):c.901-92T>C	CNTNAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1303988	NM_003632.3(CNTNAP1):c.910G>A (p.Gly304Arg)	CNTNAP1 (G304R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1206540	NM_003632.3(CNTNAP1):c.1044+112C>T	CNTNAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1183891	NM_003632.3(CNTNAP1):c.1044+112C>G	CNTNAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1693700	NM_003632.3(CNTNAP1):c.1081C>T (p.His361Tyr)	CNTNAP1 (H361Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 379825	NM_003632.3(CNTNAP1):c.1282C>T (p.Arg428Ter)	CNTNAP1 (R428*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3371558	NM_003632.3(CNTNAP1):c.1289A>G (p.Lys430Arg)	CNTNAP1 (K430R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1222442	NM_003632.3(CNTNAP1):c.1306+71G>A	CNTNAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216639	NM_003632.3(CNTNAP1):c.1307-219T>C	CNTNAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1201758	NM_003632.3(CNTNAP1):c.1307-130G>A	CNTNAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1216792	NM_003632.3(CNTNAP1):c.1307-116C>T	CNTNAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3253174	NM_003632.3(CNTNAP1):c.1330T>C (p.Trp444Arg)	CNTNAP1 (W444R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 254173	NM_003632.3(CNTNAP1):c.1561dup (p.Leu521fs)	CNTNAP1 (L521fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1703894	NM_003632.3(CNTNAP1):c.1561C>G (p.Leu521Val)	CNTNAP1 (L521V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1166722	NM_003632.3(CNTNAP1):c.1564G>C (p.Val522Leu)	CNTNAP1 (V522L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 724542	NM_003632.3(CNTNAP1):c.1577G>A (p.Arg526Gln)	CNTNAP1 (R526Q)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1166759	NM_003632.3(CNTNAP1):c.1628+5C>T	CNTNAP1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1277302	NM_003632.3(CNTNAP1):c.1628+145T>C	CNTNAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262590	NM_003632.3(CNTNAP1):c.1629-142C>T	CNTNAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222465	NM_003632.3(CNTNAP1):c.1735+173G>A	CNTNAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261719	NM_003632.3(CNTNAP1):c.1736-200A>G	CNTNAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217320	NM_003632.3(CNTNAP1):c.1736-22G>A	CNTNAP1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 2580379	NM_003632.3(CNTNAP1):c.1792T>C (p.Phe598Leu)	CNTNAP1 (F598L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1249298	NM_003632.3(CNTNAP1):c.1855+216T>C	CNTNAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288210	NM_003632.3(CNTNAP1):c.1856-198_1856-197dup	CNTNAP1	Duplication (intron variant)	not provided	GBenign
Select item 1280498	NM_003632.3(CNTNAP1):c.1856-197dup	CNTNAP1	Duplication (intron variant)	not provided	GBenign
Select item 1220330	NM_003632.3(CNTNAP1):c.1856-197del	CNTNAP1	Deletion (intron variant)	not provided	GLikely benign
Select item 1219197	NM_003632.3(CNTNAP1):c.1856-76G>A	CNTNAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1166792	NM_003632.3(CNTNAP1):c.1861C>A (p.Arg621=)	CNTNAP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1314333	NM_003632.3(CNTNAP1):c.1991A>G (p.Asn664Ser)	CNTNAP1 (N664S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1200904	NM_003632.3(CNTNAP1):c.2007T>C (p.Cys669=)	CNTNAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3343381	NM_003632.3(CNTNAP1):c.2035A>C (p.Asn679His)	CNTNAP1 (N679H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1195032	NM_003632.3(CNTNAP1):c.2060-2A>C	CNTNAP1	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 3343020	NM_003632.3(CNTNAP1):c.2170G>A (p.Val724Met)	CNTNAP1 (V724M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1166793	NM_003632.3(CNTNAP1):c.2217-10G>T	CNTNAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 773317	NM_003632.3(CNTNAP1):c.2340C>A (p.Gly780=)	CNTNAP1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 817524	NM_003632.3(CNTNAP1):c.2344C>T (p.Arg782Ter)	CNTNAP1 (R782*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1309904	NM_003632.3(CNTNAP1):c.2399C>T (p.Pro800Leu)	CNTNAP1 (P800L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1304724	NM_003632.3(CNTNAP1):c.2405G>A (p.Arg802His)	CNTNAP1 (R802H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 623901	NM_003632.3(CNTNAP1):c.2501G>A (p.Arg834His)	CNTNAP1 (R834H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2511731	NM_003632.3(CNTNAP1):c.2509T>C (p.Tyr837His)	CNTNAP1 (Y837H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1283840	NM_003632.3(CNTNAP1):c.2531-171G>A	CNTNAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1314531	NM_003632.3(CNTNAP1):c.2599G>A (p.Asp867Asn)	CNTNAP1 (D867N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3372988	NM_003632.3(CNTNAP1):c.2662C>T (p.Arg888Trp)	CNTNAP1 (R888W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1449093	NM_003632.3(CNTNAP1):c.2663G>A (p.Arg888Gln)	CNTNAP1 (R888Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1304009	NM_003632.3(CNTNAP1):c.2703G>A (p.Met901Ile)	CNTNAP1 (M901I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1264513	NM_003632.3(CNTNAP1):c.2752+254dup	CNTNAP1	Duplication (intron variant)	not provided	GBenign
Select item 1213654	NM_003632.3(CNTNAP1):c.2753-46G>A	CNTNAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1313878	NM_003632.3(CNTNAP1):c.2764C>T (p.Leu922Phe)	CNTNAP1 (L922F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 204313	NM_003632.3(CNTNAP1):c.2901_2902del (p.Cys968fs)	CNTNAP1 (C968fs)	Deletion (frameshift variant)	Neuropathy, congenital hypomyelinating, 3 +2 more	GPathogenic
Select item 1318454	NM_003632.3(CNTNAP1):c.2918G>A (p.Arg973His)	CNTNAP1 (R973H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1309905	NM_003632.3(CNTNAP1):c.2993-12_2993-3del	CNTNAP1	Deletion (intron variant)	not provided	GUncertain significance
Select item 452906	NM_003632.3(CNTNAP1):c.3047C>T (p.Ala1016Val)	CNTNAP1 (A1016V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1810516	NM_003632.3(CNTNAP1):c.3218G>A (p.Arg1073His)	CNTNAP1 (R1073H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1303986	NM_003632.3(CNTNAP1):c.3278C>A (p.Ala1093Asp)	CNTNAP1 (A1093D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1219168	NM_003632.3(CNTNAP1):c.3361C>T (p.Arg1121Ter)	CNTNAP1 (R1121*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1227444	NM_003632.3(CNTNAP1):c.3474+188del	CNTNAP1	Deletion (intron variant)	not provided	GBenign
Select item 1265982	NM_003632.3(CNTNAP1):c.3474+287del	CNTNAP1	Deletion (intron variant)	not provided	GBenign
Select item 1697111	NM_003632.3(CNTNAP1):c.3475-119T>C	CNTNAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 430068	NM_003632.3(CNTNAP1):c.3475-2A>C	CNTNAP1	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 3343382	NM_003632.3(CNTNAP1):c.3488C>T (p.Pro1163Leu)	CNTNAP1 (P1163L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1429872	NM_003632.3(CNTNAP1):c.3560G>A (p.Arg1187His)	CNTNAP1 (R1187H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1164322	NM_003632.3(CNTNAP1):c.3570G>A (p.Glu1190=)	CNTNAP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1277296	NM_003632.3(CNTNAP1):c.3814+25A>G	CNTNAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1810515	NM_003632.3(CNTNAP1):c.3853C>G (p.Leu1285Val)	CNTNAP1 (L1285V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1190920	NM_003632.3(CNTNAP1):c.3863-220C>T	CNTNAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195054	NM_003632.3(CNTNAP1):c.3863-219G>A	CNTNAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1235111	NM_003632.3(CNTNAP1):c.3863-172TG[19]	CNTNAP1	Microsatellite (intron variant)	not provided	GBenign
Select item 1232081	NM_003632.3(CNTNAP1):c.3863-172TG[20]	CNTNAP1	Microsatellite (intron variant)	not provided	GBenign
Select item 1273536	NM_003632.3(CNTNAP1):c.3863-172TG[16]	CNTNAP1	Microsatellite (intron variant)	not provided	GBenign
Select item 1233587	NM_003632.3(CNTNAP1):c.3863-172TG[15]	CNTNAP1	Microsatellite (intron variant)	not provided	GBenign
Select item 1201236	NM_003632.3(CNTNAP1):c.3863-172TG[17]	CNTNAP1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1192083	NM_003632.3(CNTNAP1):c.3863-172TG[14]	CNTNAP1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1291731	NM_003632.3(CNTNAP1):c.3863-83GT[18]	CNTNAP1	Microsatellite (intron variant)	not provided	GBenign
Select item 1287735	NM_003632.3(CNTNAP1):c.3863-83GT[19]	CNTNAP1	Microsatellite (intron variant)	not provided	GBenign
Select item 1286605	NM_003632.3(CNTNAP1):c.3863-83GT[15]	CNTNAP1	Microsatellite (intron variant)	not provided	GBenign
Select item 1279663	NM_003632.3(CNTNAP1):c.3863-83GT[16]	CNTNAP1	Microsatellite (intron variant)	not provided	GBenign
Select item 523825	NM_003632.3(CNTNAP1):c.4021C>T (p.Gln1341Ter)	CNTNAP1, LOC128669077 (Q1341*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3375933	NM_003632.3(CNTNAP1):c.4073C>T (p.Ala1358Val)	CNTNAP1, LOC128669077 (A1358V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 100