CNTNAP3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146018	GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3	LOC130001767, LOC130001768 +1006 more	Copy number gain	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	CDKN2B, CDKN2B-AS1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 146931	GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3	LOC130001680, LOC130001681 +1062 more	Copy number gain	See cases	GPathogenic
Select item 146703	GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3	LOC124210611, LOC124210612 +1120 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	LOC130001854, LOC130001855 +1367 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150341	GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3	LOC130001585, LOC130001586 +984 more	Copy number gain	See cases	GPathogenic
Select item 148823	GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4	LOC130001746, LOC130001747 +980 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 151755	GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015)	ACER2, ACO1 +691 more	Copy number gain	See cases	GPathogenic
Select item 153185	GRCh38/hg38 9p21.1-q21.11(chr9:31426827-68257015)x3	ACO1, ALDH1B1 +504 more	Copy number gain	See cases	GPathogenic
Select item 2249383	NM_033655.5(CNTNAP3):c.3832A>G (p.Asn1278Asp)	CNTNAP3 (N1278D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146860	NM_033655.5(CNTNAP3):c.3824G>C (p.Arg1275Pro)	CNTNAP3 (R1194P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349699	NM_033655.5(CNTNAP3):c.3799C>A (p.Arg1267Ser)	CNTNAP3 (R1267S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146859	NM_033655.5(CNTNAP3):c.3658C>G (p.Leu1220Val)	CNTNAP3 (L1220V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517878	NM_033655.5(CNTNAP3):c.3635C>T (p.Pro1212Leu)	CNTNAP3 (P1131L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146858	NM_033655.5(CNTNAP3):c.3626C>G (p.Ser1209Cys)	CNTNAP3 (S1128C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268333	NM_033655.5(CNTNAP3):c.3613G>A (p.Ala1205Thr)	CNTNAP3 (A1124T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146857	NM_033655.5(CNTNAP3):c.3599T>G (p.Met1200Arg)	CNTNAP3 (M1200R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282878	NM_033655.5(CNTNAP3):c.3598A>C (p.Met1200Leu)	CNTNAP3 (M1119L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527551	NM_033655.5(CNTNAP3):c.3593C>T (p.Ala1198Val)	CNTNAP3 (A1198V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146856	NM_033655.5(CNTNAP3):c.3589G>T (p.Val1197Leu)	CNTNAP3 (V1197L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522525	NM_033655.5(CNTNAP3):c.3529G>C (p.Ala1177Pro)	CNTNAP3 (A1177P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146855	NM_033655.5(CNTNAP3):c.3517T>C (p.Phe1173Leu)	CNTNAP3 (F1092L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268339	NM_033655.5(CNTNAP3):c.3476C>T (p.Ala1159Val)	CNTNAP3 (A1078V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146854	NM_033655.5(CNTNAP3):c.3448G>C (p.Ala1150Pro)	CNTNAP3 (A1069P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376928	NM_033655.5(CNTNAP3):c.3424A>G (p.Ile1142Val)	CNTNAP3 (I1142V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146853	NM_033655.5(CNTNAP3):c.3365G>A (p.Ser1122Asn)	CNTNAP3 (S1041N +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2311302	NM_033655.5(CNTNAP3):c.3302G>C (p.Gly1101Ala)	CNTNAP3 (G1020A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146852	NM_033655.5(CNTNAP3):c.3295G>T (p.Ala1099Ser)	CNTNAP3 (A1099S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268337	NM_033655.5(CNTNAP3):c.3254A>C (p.His1085Pro)	CNTNAP3 (H1004P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255071	NM_033655.5(CNTNAP3):c.3221G>T (p.Gly1074Val)	CNTNAP3 (G1074V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553281	NM_033655.5(CNTNAP3):c.3192A>T (p.Glu1064Asp)	CNTNAP3 (E1064D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146850	NM_033655.5(CNTNAP3):c.3149G>A (p.Arg1050Gln)	CNTNAP3 (R1050Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2221722	NM_033655.5(CNTNAP3):c.3104T>C (p.Val1035Ala)	CNTNAP3 (V1035A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228833	NM_033655.5(CNTNAP3):c.3101A>C (p.Asp1034Ala)	CNTNAP3 (D1034A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400799	NM_033655.5(CNTNAP3):c.3097A>G (p.Arg1033Gly)	CNTNAP3 (R952G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146849	NM_033655.5(CNTNAP3):c.3082G>A (p.Val1028Ile)	CNTNAP3 (V1028I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146848	NM_033655.5(CNTNAP3):c.3059T>C (p.Leu1020Ser)	CNTNAP3 (L1020S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2659200	NM_033655.5(CNTNAP3):c.3030G>C (p.Met1010Ile)	CNTNAP3 (M1010I +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2659201	NM_033655.5(CNTNAP3):c.3012T>C (p.Phe1004=)	CNTNAP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2468433	NM_033655.5(CNTNAP3):c.3004G>A (p.Ala1002Thr)	CNTNAP3 (A1002T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345247	NM_033655.5(CNTNAP3):c.2996A>G (p.Glu999Gly)	CNTNAP3 (E999G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146847	NM_033655.5(CNTNAP3):c.2993A>G (p.Asn998Ser)	CNTNAP3 (N998S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146846	NM_033655.5(CNTNAP3):c.2950T>A (p.Cys984Ser)	CNTNAP3 (C984S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390533	NM_033655.5(CNTNAP3):c.2908C>T (p.Arg970Cys)	CNTNAP3 (R970C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465615	NM_033655.5(CNTNAP3):c.2889C>A (p.Ser963Arg)	CNTNAP3 (S963R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250999	NM_033655.5(CNTNAP3):c.2834A>C (p.Glu945Ala)	CNTNAP3 (E945A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146845	NM_033655.5(CNTNAP3):c.2744A>C (p.Gln915Pro)	CNTNAP3 (Q914P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214747	NM_033655.5(CNTNAP3):c.2742C>A (p.Ser914Arg)	CNTNAP3 (S913R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298162	NM_033655.5(CNTNAP3):c.2732A>G (p.Gln911Arg)	CNTNAP3 (Q911R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486222	NM_033655.5(CNTNAP3):c.2721C>A (p.His907Gln)	CNTNAP3 (H906Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146844	NM_033655.5(CNTNAP3):c.2695A>T (p.Met899Leu)	CNTNAP3 (M898L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616918	NM_033655.5(CNTNAP3):c.2672A>C (p.Gln891Pro)	CNTNAP3 (Q891P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602705	NM_033655.5(CNTNAP3):c.2591C>T (p.Thr864Met)	CNTNAP3 (T863M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527769	NM_033655.5(CNTNAP3):c.2563G>A (p.Asp855Asn)	CNTNAP3 (D855N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519699	NM_033655.5(CNTNAP3):c.2499C>A (p.Asn833Lys)	CNTNAP3 (N832K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146843	NM_033655.5(CNTNAP3):c.2359G>A (p.Gly787Arg)	CNTNAP3 (G786R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214837	NM_033655.5(CNTNAP3):c.2350C>T (p.Leu784Phe)	CNTNAP3 (L784F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2659202	NM_033655.5(CNTNAP3):c.2323G>A (p.Glu775Lys)	CNTNAP3 (E774K +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2513386	NM_033655.5(CNTNAP3):c.2227C>T (p.Arg743Trp)	CNTNAP3 (R743W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146842	NM_033655.5(CNTNAP3):c.2204A>T (p.Tyr735Phe)	CNTNAP3 (Y735F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363027	NM_033655.5(CNTNAP3):c.2192T>C (p.Ile731Thr)	CNTNAP3 (I730T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268338	NM_033655.5(CNTNAP3):c.2186A>G (p.Asn729Ser)	CNTNAP3 (N728S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558588	NM_033655.5(CNTNAP3):c.2087C>G (p.Thr696Ser)	CNTNAP3 (T695S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146841	NM_033655.5(CNTNAP3):c.2082T>G (p.Asp694Glu)	CNTNAP3 (D693E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229387	NM_033655.5(CNTNAP3):c.2053G>T (p.Gly685Trp)	CNTNAP3 (G685W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308386	NM_033655.5(CNTNAP3):c.2048G>A (p.Arg683His)	CNTNAP3 (R682H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2659203	NM_033655.5(CNTNAP3):c.1977C>T (p.Tyr659=)	CNTNAP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2233288	NM_033655.5(CNTNAP3):c.1952C>A (p.Pro651Gln)	CNTNAP3 (P650Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242133	NM_033655.5(CNTNAP3):c.1918G>A (p.Ala640Thr)	CNTNAP3 (A639T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561564	NM_033655.5(CNTNAP3):c.1820T>C (p.Ile607Thr)	CNTNAP3 (I607T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268336	NM_033655.5(CNTNAP3):c.1793G>A (p.Arg598Gln)	CNTNAP3 (R598Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296688	NM_033655.5(CNTNAP3):c.1765G>A (p.Glu589Lys)	CNTNAP3 (E589K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232528	NM_033655.5(CNTNAP3):c.1735A>G (p.Thr579Ala)	CNTNAP3 (T579A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224409	NM_033655.5(CNTNAP3):c.1658C>T (p.Pro553Leu)	CNTNAP3 (P553L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146839	NM_033655.5(CNTNAP3):c.1595G>A (p.Gly532Glu)	CNTNAP3 (G532E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478631	NM_033655.5(CNTNAP3):c.1591C>G (p.Gln531Glu)	CNTNAP3 (Q531E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549492	NM_033655.5(CNTNAP3):c.1568C>A (p.Ala523Glu)	CNTNAP3 (A523E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301400	NM_033655.5(CNTNAP3):c.1498G>C (p.Gly500Arg)	CNTNAP3 (G500R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146838	NM_033655.5(CNTNAP3):c.1478G>A (p.Gly493Asp)	CNTNAP3 (G493D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146837	NM_033655.5(CNTNAP3):c.1435G>A (p.Val479Met)	CNTNAP3 (V479M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253084	NM_033655.5(CNTNAP3):c.1406T>C (p.Val469Ala)	CNTNAP3 (V469A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253082	NM_033655.5(CNTNAP3):c.1402G>A (p.Val468Met)	CNTNAP3 (V468M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246370	NM_033655.5(CNTNAP3):c.1390C>A (p.His464Asn)	CNTNAP3 (H464N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537514	NM_033655.5(CNTNAP3):c.1348G>A (p.Asp450Asn)	CNTNAP3 (D450N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146835	NM_033655.5(CNTNAP3):c.1315C>T (p.Pro439Ser)	CNTNAP3 (P439S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3234420	NM_033655.5(CNTNAP3):c.1305G>A (p.Pro435=)	CNTNAP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3146834	NM_033655.5(CNTNAP3):c.1258G>A (p.Val420Ile)	CNTNAP3 (V420I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146833	NM_033655.5(CNTNAP3):c.1253G>C (p.Ser418Thr)	CNTNAP3 (S418T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146832	NM_033655.5(CNTNAP3):c.1246T>G (p.Ser416Ala)	CNTNAP3 (S416A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455193	NM_033655.5(CNTNAP3):c.1240C>T (p.Arg414Cys)	CNTNAP3 (R414C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295764	NM_033655.5(CNTNAP3):c.1240C>A (p.Arg414Ser)	CNTNAP3 (R414S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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