CNTNAP4[gene] - ClinVar

Search results

Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059829, LOC130059830 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC108281164, LOC109029536 +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	LOC130059834, LOC130059835 +1424 more	Copy number gain	See cases	GPathogenic
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	LOC130059420, LOC130059421 +869 more	Copy number gain	See cases	GPathogenic
Select item 153758	GRCh38/hg38 16q22.1-23.3(chr16:69053457-83274681)x3	LOC132090408, LOC132090409 +572 more	Copy number gain	See cases	GPathogenic
Select item 59514	GRCh38/hg38 16q22.1-23.1(chr16:69918076-76723348)x1	AARS1, ADAT1 +295 more	Copy number loss	See cases	GPathogenic
Select item 144332	GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1	ADAD2, ADAMTS18 +591 more	Copy number loss	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	LOC130059850, LOC130059851 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	PKD1L2, PKD1L3 +1031 more	Copy number gain	See cases	GPathogenic
Select item 59515	GRCh38/hg38 16q22.3-23.3(chr16:73049467-82576326)x1	LOC112486211, LOC112486212 +360 more	Copy number loss	See cases	GPathogenic
Select item 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	LOC130059772, LOC130059773 +832 more	Copy number gain	See cases	GPathogenic
Select item 146126	GRCh38/hg38 16q23.1(chr16:75541502-79154140)x1	ADAMTS18, ADAT1 +102 more	Copy number loss	See cases	GPathogenic
Select item 60023	GRCh38/hg38 16q23.1(chr16:75581049-76337261)x3	ADAT1, CNTNAP4 +17 more	Copy number gain	See cases	GUncertain significance
Select item 148223	GRCh38/hg38 16q23.1(chr16:75905807-76701486)x3	CNTNAP4, LINC02125 +4 more	Copy number gain	See cases	GUncertain significance
Select item 148532	GRCh38/hg38 16q23.1(chr16:76033170-76548202)x3	CNTNAP4, LOC130059454	Copy number gain	See cases	Gconflicting data from submitters
Select item 148951	GRCh38/hg38 16q23.1(chr16:76193969-76661835)x3	CNTNAP4, LINC02125	Copy number gain	See cases	GLikely benign
Select item 2619230	NM_033401.5(CNTNAP4):c.163G>A (p.Gly55Ser)	CNTNAP4 (G30S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 153239	GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	LOC132090418, LOC132090419 +788 more	Copy number gain	See cases	GPathogenic
Select item 2646884	NM_033401.5(CNTNAP4):c.304A>G (p.Ser102Gly)	CNTNAP4 (S101G +3 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2374760	NM_033401.5(CNTNAP4):c.365A>G (p.Gln122Arg)	CNTNAP4 (Q122R +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3268363	NM_033401.5(CNTNAP4):c.469T>G (p.Phe157Val)	CNTNAP4 (F132V +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3146901	NM_033401.5(CNTNAP4):c.474C>T (p.Ile158=)	CNTNAP4	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 3044552	NM_033401.5(CNTNAP4):c.517G>A (p.Glu173Lys)	CNTNAP4 (E148K +4 more)	Single nucleotide variant (missense variant +2 more)	CNTNAP4-related disorder	GUncertain significance
Select item 2355874	NM_033401.5(CNTNAP4):c.778A>G (p.Asn260Asp)	CNTNAP4 (N172D +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2524334	NM_033401.5(CNTNAP4):c.952C>T (p.Pro318Ser)	CNTNAP4 (P189S +4 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3268365	NM_033401.5(CNTNAP4):c.1103A>G (p.Gln368Arg)	CNTNAP4 (Q295R +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3040025	NM_033401.5(CNTNAP4):c.1190A>G (p.Gln397Arg)	CNTNAP4 (Q268R +6 more)	Single nucleotide variant (missense variant +2 more)	CNTNAP4-related disorder	GLikely benign
Select item 3146897	NM_033401.5(CNTNAP4):c.1251G>A (p.Gly417=)	CNTNAP4	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 2286711	NM_033401.5(CNTNAP4):c.1276G>A (p.Gly426Arg)	CNTNAP4 (G338R +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1221600	NM_033401.5(CNTNAP4):c.1334-11C>A	CNTNAP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3356500	NM_033401.5(CNTNAP4):c.1461G>T (p.Ser487=)	CNTNAP4	Single nucleotide variant (synonymous variant +2 more)	CNTNAP4-related disorder	GUncertain significance
Select item 3268364	NM_033401.5(CNTNAP4):c.1813G>C (p.Gly605Arg)	CNTNAP4 (G476R +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3047349	NM_033401.5(CNTNAP4):c.1817T>A (p.Phe606Tyr)	CNTNAP4 (F134Y +8 more)	Single nucleotide variant (missense variant +1 more)	CNTNAP4-related disorder	GLikely benign
Select item 3268361	NM_033401.5(CNTNAP4):c.1837G>C (p.Gly613Arg)	CNTNAP4 (G141R +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 145842	GRCh38/hg38 16q23.1(chr16:76487528-76701427)x3	CNTNAP4, LINC02125 +2 more	Copy number gain	See cases	GLikely benign
Select item 57373	GRCh38/hg38 16q23.1(chr16:76487528-76735501)x1	CNTNAP4, LINC02125 +3 more	Copy number loss	See cases	GUncertain significance
Select item 2601509	NM_033401.5(CNTNAP4):c.1895C>T (p.Thr632Ile)	CNTNAP4 (T160I +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300691	NM_033401.5(CNTNAP4):c.1945C>T (p.Pro649Ser)	CNTNAP4 (P576S +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146898	NM_033401.5(CNTNAP4):c.2001G>A (p.Gln667=)	CNTNAP4	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2390516	NM_033401.5(CNTNAP4):c.2053A>G (p.Lys685Glu)	CNTNAP4 (K376E +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622494	NM_033401.5(CNTNAP4):c.2083G>A (p.Gly695Arg)	CNTNAP4 (G223R +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3056004	NM_033401.5(CNTNAP4):c.2506A>T (p.Ile836Phe)	CNTNAP4 (I364F +8 more)	Single nucleotide variant (missense variant +1 more)	CNTNAP4-related disorder	GLikely benign
Select item 3268360	NM_033401.5(CNTNAP4):c.2606C>A (p.Thr869Asn)	CNTNAP4 (T560N +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3349278	NM_033401.5(CNTNAP4):c.3028G>A (p.Val1010Met)	CNTNAP4 (V1009M +9 more)	Single nucleotide variant (missense variant +1 more)	CNTNAP4-related disorder	GLikely benign
Select item 3268362	NM_033401.5(CNTNAP4):c.3182T>C (p.Phe1061Ser)	CNTNAP4 (F752S +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464991	NM_033401.5(CNTNAP4):c.3225T>G (p.Ser1075Arg)	CNTNAP4 (S603R +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2290013	NM_033401.5(CNTNAP4):c.3236G>T (p.Arg1079Met)	CNTNAP4 (R1029M +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146899	NM_033401.5(CNTNAP4):c.3337G>A (p.Gly1113Arg)	CNTNAP4 (G1065R +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2635237	NM_033401.5(CNTNAP4):c.3372G>C (p.Arg1124Ser)	CNTNAP4 (R1036S +9 more)	Single nucleotide variant (missense variant +1 more)	CNTNAP4-related disorder	GUncertain significance
Select item 2532834	NM_033401.5(CNTNAP4):c.3443A>G (p.Glu1148Gly)	CNTNAP4 (E1147G +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1205991	NM_033401.5(CNTNAP4):c.3483G>A (p.Ala1161=)	CNTNAP4	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 2257831	NM_033401.5(CNTNAP4):c.3530C>T (p.Ala1177Val)	CNTNAP4 (A1097V +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2549151	NM_033401.5(CNTNAP4):c.3538A>G (p.Lys1180Glu)	CNTNAP4 (K871E +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2496251	NM_033401.5(CNTNAP4):c.3806G>T (p.Arg1269Met)	CNTNAP4 (R1219M +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3354152	NM_033401.5(CNTNAP4):c.3869A>T (p.Lys1290Ile)	CNTNAP4 (K1161I +10 more)	Single nucleotide variant (missense variant +1 more)	CNTNAP4-related disorder	GUncertain significance
Select item 2402425	NM_033401.5(CNTNAP4):c.3889A>G (p.Asn1297Asp)	CNTNAP4 (N1224D +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063474	GRCh37/hg19 16q23.1(chr16:76339977-76411476)x1	CNTNAP4	Copy number loss	not specified	GUncertain significance
Select item 3063470	GRCh37/hg19 16q23.1(chr16:75947360-78217943)x3	ADAMTS18, CLEC3A +6 more	Copy number gain	not specified	GUncertain significance
Select item 2685576	GRCh37/hg19 16q23.1(chr16:76291621-76722658)x1	CNTNAP4	Copy number loss	not provided	GUncertain significance
Select item 2684817	GRCh37/hg19 16q23.1(chr16:75989007-76546270)x3	CNTNAP4	Copy number gain	not provided	GUncertain significance
Select item 2684813	GRCh37/hg19 16q22.1-23.2(chr16:70607067-81561138)x3	ADAMTS18, ADAT1 +67 more	Copy number gain	not provided	GPathogenic
Select item 1809453	GRCh37/hg19 16q23.1(chr16:76472469-77366668)x3	ADAMTS18, CNTNAP4 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1809401	GRCh37/hg19 16q22.3-23.1(chr16:73673334-78137887)x1	ADAMTS18, ADAT1 +29 more	Copy number loss	not provided	GUncertain significance
Select item 1807969	GRCh37/hg19 16q23.1(chr16:76575950-76638633)x1	CNTNAP4	Copy number loss	not provided	GUncertain significance
Select item 1707627	GRCh37/hg19 16q22.2-24.3(chr16:71641395-90161959)x3	ACSF3, ADAD2 +150 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	AARS1, ABCC11 +368 more	Copy number gain	not provided	GPathogenic
Select item 1526522	GRCh37/hg19 16q23.1(chr16:76000179-76371082)	CNTNAP4	Copy number gain	not specified	GUncertain significance
Select item 1340035	GRCh37/hg19 16q23.1(chr16:76457786-76610695)x1	CNTNAP4	Copy number loss	not provided	GUncertain significance
Select item 973025	GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3	AARS1, ACD +268 more	Copy number gain	not provided	Gnot provided
Select item 815836	GRCh37/hg19 16q23.1(chr16:76324005-76656042)x1	CNTNAP4	Copy number loss	not provided	GUncertain significance
Select item 815835	GRCh37/hg19 16q23.1(chr16:76070955-77090139)x3	CNTNAP4	Copy number gain	not provided	GUncertain significance
Select item 815834	GRCh37/hg19 16q23.1(chr16:75822770-77037952)x3	CNTNAP4	Copy number gain	not provided	GUncertain significance
Select item 686376	GRCh37/hg19 16q22.2-23.1(chr16:72677179-77439111)x1	ADAMTS18, ADAT1 +27 more	Copy number loss	not provided	GUncertain significance
Select item 686075	GRCh37/hg19 16q23.1(chr16:76348941-76374538)x1	CNTNAP4	Copy number loss	not provided	GUncertain significance
Select item 685507	GRCh37/hg19 16q23.1(chr16:76009327-76656042)x1	CNTNAP4	Copy number loss	not provided	GUncertain significance
Select item 564347	GRCh37/hg19 16q23.1(chr16:76472468-77369927)x3	CNTNAP4, MON1B +2 more	Copy number gain	not provided	GUncertain significance
Select item 564346	GRCh37/hg19 16q23.1(chr16:75929490-76742027)x3	CNTNAP4	Copy number gain	not provided	GLikely benign
Select item 564345	GRCh37/hg19 16q23.1(chr16:75799117-77172017)x3	CNTNAP4	Copy number gain	not provided	GUncertain significance
Select item 564342	GRCh37/hg19 16q22.2-24.3(chr16:72515938-90155062)x3	ACSF3, ADAD2 +136 more	Copy number gain	not provided	GPathogenic
Select item 523162	GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	CA7, COG8 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 523156	GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1	KCTD19, KIAA0513 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 442214	GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3	AARS1, ACD +292 more	Copy number gain	See cases	GPathogenic
Select item 441933	GRCh37/hg19 16q23.1(chr16:74150909-77077326)x1	ADAT1, BCAR1 +22 more	Copy number loss	See cases	GUncertain significance
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 253554	GRCh37/hg19 16q23.1-24.3(chr16:74872514-90274440)x3	ACSF3, ADAD2 +127 more	Copy number gain	See cases	GPathogenic
Select item 221527	GRCh37/hg19 16q22.2-24.3(chr16:72107834-90142285)x1	ACSF3, ADAD2 +140 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221392	GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1	ATXN1L, B3GNT9 +368 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221345	Single allele	ADGRG5, CFAP263 +324 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 93