ClinVar for Gene (Select 79937) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3268340	NM_033655.5(CNTNAP3):c.1158C>G (p.Asn386Lys)	CNTNAP3 (N386K)	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 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 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 3268336	NM_033655.5(CNTNAP3):c.1793G>A (p.Arg598Gln)	CNTNAP3 (R598Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268335	NM_033655.5(CNTNAP3):c.610A>G (p.Ile204Val)	CNTNAP3 (I204V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3242301	GRCh37/hg19 9p13.3-13.1(chr9:35495055-39184042)x1	ALDH1B1, ANKRD18A +45 more	Copy number loss	not provided	GPathogenic
Select item 3234420	NM_033655.5(CNTNAP3):c.1305G>A (p.Pro435=)	CNTNAP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3146861	NM_033655.5(CNTNAP3):c.597A>T (p.Lys199Asn)	CNTNAP3 (K199N)	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 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 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 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 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 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 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 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 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 3146851	NM_033655.5(CNTNAP3):c.31G>T (p.Val11Leu)	CNTNAP3 (V11L)	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 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 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 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 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 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 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 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 3146839	NM_033655.5(CNTNAP3):c.1595G>A (p.Gly532Glu)	CNTNAP3 (G532E)	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 3146835	NM_033655.5(CNTNAP3):c.1315C>T (p.Pro439Ser)	CNTNAP3 (P439S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 2659205	NM_033655.5(CNTNAP3):c.845C>T (p.Thr282Met)	CNTNAP3 (T282M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2659204	NM_033655.5(CNTNAP3):c.954C>T (p.Pro318=)	CNTNAP3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2659203	NM_033655.5(CNTNAP3):c.1977C>T (p.Tyr659=)	CNTNAP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2659201	NM_033655.5(CNTNAP3):c.3012T>C (p.Phe1004=)	CNTNAP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2623969	NM_033655.5(CNTNAP3):c.616G>T (p.Asp206Tyr)	CNTNAP3 (D206Y)	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 2608330	NM_033655.5(CNTNAP3):c.866A>G (p.Asp289Gly)	CNTNAP3 (D289G)	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 2561564	NM_033655.5(CNTNAP3):c.1820T>C (p.Ile607Thr)	CNTNAP3 (I607T)	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 2555128	NM_033655.5(CNTNAP3):c.1028T>A (p.Val343Asp)	CNTNAP3 (V343D)	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 2549492	NM_033655.5(CNTNAP3):c.1568C>A (p.Ala523Glu)	CNTNAP3 (A523E)	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 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 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 2523945	NM_033655.5(CNTNAP3):c.797T>C (p.Leu266Pro)	CNTNAP3 (L266P)	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 2520133	NM_033655.5(CNTNAP3):c.823G>A (p.Val275Ile)	CNTNAP3 (V275I)	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 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 2513915	NM_033655.5(CNTNAP3):c.862G>A (p.Val288Met)	CNTNAP3 (V288M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 2478631	NM_033655.5(CNTNAP3):c.1591C>G (p.Gln531Glu)	CNTNAP3 (Q531E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 2455193	NM_033655.5(CNTNAP3):c.1240C>T (p.Arg414Cys)	CNTNAP3 (R414C)	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 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 2384395	NM_033655.5(CNTNAP3):c.875C>T (p.Thr292Ile)	CNTNAP3 (T292I)	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 2371482	NM_033655.5(CNTNAP3):c.1046A>G (p.Lys349Arg)	CNTNAP3 (K349R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368844	NM_033655.5(CNTNAP3):c.964C>T (p.Arg322Trp)	CNTNAP3 (R322W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366885	NM_033655.5(CNTNAP3):c.773C>T (p.Pro258Leu)	CNTNAP3 (P258L)	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 2354363	NM_033655.5(CNTNAP3):c.52C>G (p.Gln18Glu)	CNTNAP3 (Q18E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352409	NM_033655.5(CNTNAP3):c.1238G>A (p.Arg413Gln)	CNTNAP3 (R413Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2345975	NM_033655.5(CNTNAP3):c.1238G>C (p.Arg413Pro)	CNTNAP3 (R413P)	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 2332491	NM_033655.5(CNTNAP3):c.1175T>C (p.Val392Ala)	CNTNAP3 (V392A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329725	NM_033655.5(CNTNAP3):c.1076A>G (p.Asn359Ser)	CNTNAP3 (N359S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 2301400	NM_033655.5(CNTNAP3):c.1498G>C (p.Gly500Arg)	CNTNAP3 (G500R)	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 2296688	NM_033655.5(CNTNAP3):c.1765G>A (p.Glu589Lys)	CNTNAP3 (E589K)	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
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 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 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 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 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 2246370	NM_033655.5(CNTNAP3):c.1390C>A (p.His464Asn)	CNTNAP3 (H464N)	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 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 2232528	NM_033655.5(CNTNAP3):c.1735A>G (p.Thr579Ala)	CNTNAP3 (T579A)	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

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