CNTNAP3B[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	ACER2, ACO1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA1, ADGRD2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	FAM95B1, FAM95C +1214 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC129390066, LOC129390067 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860762, LOC126860763 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	LOC124292579, LOC124292580 +3786 more	Copy number gain	See cases	GPathogenic
Select item 146931	GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3	LOC130001496, LOC130001497 +1062 more	Copy number gain	See cases	GPathogenic
Select item 146703	GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3	ABHD17B, ACER2 +1120 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	DENND4C, DIPK1B +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA2, ACER2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	ABHD17B, ACER2 +1367 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC130001660, LOC130001661 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	LOC126860587, LOC126860588 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150341	GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3	ACER2, ACO1 +984 more	Copy number gain	See cases	GPathogenic
Select item 148823	GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4	SPATA31A5, SPATA31A6 +980 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 151755	GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015)	SLC24A2, SLC25A51 +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 148718	GRCh38/hg38 9p13.3-q21.11(chr9:41747162-67217006)x3	ANKRD20A4-ANKRD20A20P, CNTNAP3B +50 more	Copy number gain	See cases	GPathogenic
Select item 2324301	NM_001201380.3(CNTNAP3B):c.3863G>T (p.Cys1288Phe)	CNTNAP3B (C1288F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146892	NM_001201380.3(CNTNAP3B):c.3862T>C (p.Cys1288Arg)	CNTNAP3B (C1288R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343228	NM_001201380.3(CNTNAP3B):c.3853A>G (p.Lys1285Glu)	CNTNAP3B (K1285E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346793	NM_001201380.3(CNTNAP3B):c.3823C>T (p.Arg1275Cys)	CNTNAP3B (R1275C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251049	NM_001201380.3(CNTNAP3B):c.3818A>T (p.Lys1273Met)	CNTNAP3B (K1273M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353186	NM_001201380.3(CNTNAP3B):c.3811C>A (p.Gln1271Lys)	CNTNAP3B (Q1271K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344565	NM_001201380.3(CNTNAP3B):c.3800G>A (p.Arg1267His)	CNTNAP3B (R1267H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146890	NM_001201380.3(CNTNAP3B):c.3799C>T (p.Arg1267Cys)	CNTNAP3B (R1267C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495223	NM_001201380.3(CNTNAP3B):c.3794C>A (p.Ala1265Asp)	CNTNAP3B (A1265D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146889	NM_001201380.3(CNTNAP3B):c.3754G>A (p.Ala1252Thr)	CNTNAP3B (A1252T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268352	NM_001201380.3(CNTNAP3B):c.3731C>A (p.Ser1244Tyr)	CNTNAP3B (S1244Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363036	NM_001201380.3(CNTNAP3B):c.3689T>C (p.Val1230Ala)	CNTNAP3B (V1230A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2553731	NM_001201380.3(CNTNAP3B):c.3649G>T (p.Ala1217Ser)	CNTNAP3B (A1217S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294345	NM_001201380.3(CNTNAP3B):c.3635C>G (p.Pro1212Arg)	CNTNAP3B (P1212R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348658	NM_001201380.3(CNTNAP3B):c.3623C>T (p.Ala1208Val)	CNTNAP3B (A1208V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2344059	NM_001201380.3(CNTNAP3B):c.3610G>A (p.Ala1204Thr)	CNTNAP3B (A1204T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146887	NM_001201380.3(CNTNAP3B):c.3596C>T (p.Pro1199Leu)	CNTNAP3B (P1199L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209906	NM_001201380.3(CNTNAP3B):c.3589G>C (p.Val1197Leu)	CNTNAP3B (V1197L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268353	NM_001201380.3(CNTNAP3B):c.3559G>C (p.Gly1187Arg)	CNTNAP3B (G1187R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358833	NM_001201380.3(CNTNAP3B):c.3557G>A (p.Ser1186Asn)	CNTNAP3B (S1186N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146886	NM_001201380.3(CNTNAP3B):c.3554C>T (p.Pro1185Leu)	CNTNAP3B (P1185L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343144	NM_001201380.3(CNTNAP3B):c.3544G>A (p.Ala1182Thr)	CNTNAP3B (A1182T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242659	NM_001201380.3(CNTNAP3B):c.3540G>T (p.Lys1180Asn)	CNTNAP3B (K1180N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340369	NM_001201380.3(CNTNAP3B):c.3508G>A (p.Ala1170Thr)	CNTNAP3B (A1170T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349650	NM_001201380.3(CNTNAP3B):c.3479C>T (p.Ala1160Val)	CNTNAP3B (A1160V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3268347	NM_001201380.3(CNTNAP3B):c.3476C>A (p.Ala1159Glu)	CNTNAP3B (A1159E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532282	NM_001201380.3(CNTNAP3B):c.3457G>A (p.Asp1153Asn)	CNTNAP3B (D1153N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268343	NM_001201380.3(CNTNAP3B):c.3455C>G (p.Ala1152Gly)	CNTNAP3B (A1152G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491787	NM_001201380.3(CNTNAP3B):c.3274A>G (p.Thr1092Ala)	CNTNAP3B (T1092A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2376698	NM_001201380.3(CNTNAP3B):c.3196C>T (p.Leu1066Phe)	CNTNAP3B (L1066F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345575	NM_001201380.3(CNTNAP3B):c.3155C>T (p.Pro1052Leu)	CNTNAP3B (P1052L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378046	NM_001201380.3(CNTNAP3B):c.3113C>T (p.Thr1038Ile)	CNTNAP3B (T1038I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408611	NM_001201380.3(CNTNAP3B):c.3111G>T (p.Leu1037Phe)	CNTNAP3B (L1037F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353958	NM_001201380.3(CNTNAP3B):c.3056C>G (p.Thr1019Ser)	CNTNAP3B (T1019S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221501	NM_001201380.3(CNTNAP3B):c.2959G>T (p.Ala987Ser)	CNTNAP3B (A987S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233519	NM_001201380.3(CNTNAP3B):c.2957G>C (p.Cys986Ser)	CNTNAP3B (C986S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215478	NM_001201380.3(CNTNAP3B):c.2944G>C (p.Val982Leu)	CNTNAP3B (V982L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361431	NM_001201380.3(CNTNAP3B):c.2935C>G (p.Arg979Gly)	CNTNAP3B (R979G)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2460157	NM_001201380.3(CNTNAP3B):c.2924G>T (p.Cys975Phe)	CNTNAP3B (C975F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364621	NM_001201380.3(CNTNAP3B):c.2909G>A (p.Arg970His)	CNTNAP3B (R970H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3146884	NM_001201380.3(CNTNAP3B):c.2879G>A (p.Gly960Glu)	CNTNAP3B (G960E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380505	NM_001201380.3(CNTNAP3B):c.2876C>T (p.Ala959Val)	CNTNAP3B (A959V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2268279	NM_001201380.3(CNTNAP3B):c.2857G>C (p.Gly953Arg)	CNTNAP3B (G953R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283203	NM_001201380.3(CNTNAP3B):c.2842G>A (p.Ala948Thr)	CNTNAP3B (A948T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146883	NM_001201380.3(CNTNAP3B):c.2798G>A (p.Arg933Gln)	CNTNAP3B (R933Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410438	NM_001201380.3(CNTNAP3B):c.2797C>T (p.Arg933Trp)	CNTNAP3B (R933W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613900	NM_001201380.3(CNTNAP3B):c.2792G>A (p.Cys931Tyr)	CNTNAP3B (C931Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246184	NM_001201380.3(CNTNAP3B):c.2780G>T (p.Gly927Val)	CNTNAP3B (G927V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377056	NM_001201380.3(CNTNAP3B):c.2635G>A (p.Val879Met)	CNTNAP3B (V879M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146882	NM_001201380.3(CNTNAP3B):c.2605A>G (p.Thr869Ala)	CNTNAP3B (T869A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350033	NM_001201380.3(CNTNAP3B):c.2597A>T (p.Gln866Leu)	CNTNAP3B (Q866L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3025269	NM_001201380.3(CNTNAP3B):c.2323G>A (p.Glu775Lys)	CNTNAP3B (E775K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3268346	NM_001201380.3(CNTNAP3B):c.2257C>T (p.Leu753Phe)	CNTNAP3B (L753F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146881	NM_001201380.3(CNTNAP3B):c.2156C>T (p.Ala719Val)	CNTNAP3B (A719V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606351	NM_001201380.3(CNTNAP3B):c.2156C>G (p.Ala719Gly)	CNTNAP3B (A719G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342490	NM_001201380.3(CNTNAP3B):c.2141G>T (p.Gly714Val)	CNTNAP3B (G714V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268341	NM_001201380.3(CNTNAP3B):c.2132C>T (p.Ser711Phe)	CNTNAP3B (S711F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3025008	NM_001201380.3(CNTNAP3B):c.2130T>C (p.Thr710=)	CNTNAP3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3146880	NM_001201380.3(CNTNAP3B):c.2111G>T (p.Arg704Ile)	CNTNAP3B (R704I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146879	NM_001201380.3(CNTNAP3B):c.2078G>T (p.Arg693Leu)	CNTNAP3B (R693L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344058	NM_001201380.3(CNTNAP3B):c.2078G>A (p.Arg693Gln)	CNTNAP3B (R693Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554180	NM_001201380.3(CNTNAP3B):c.2077C>G (p.Arg693Gly)	CNTNAP3B (R693G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323726	NM_001201380.3(CNTNAP3B):c.2032C>A (p.Gln678Lys)	CNTNAP3B (Q678K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470707	NM_001201380.3(CNTNAP3B):c.2029G>A (p.Glu677Lys)	CNTNAP3B (E677K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146878	NM_001201380.3(CNTNAP3B):c.2028C>G (p.Cys676Trp)	CNTNAP3B (C676W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2659220	NM_001201380.3(CNTNAP3B):c.1992G>T (p.Gly664=)	CNTNAP3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2509667	NM_001201380.3(CNTNAP3B):c.1978G>A (p.Ala660Thr)	CNTNAP3B (A660T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268358	NM_001201380.3(CNTNAP3B):c.1954C>T (p.Leu652Phe)	CNTNAP3B (L652F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146877	NM_001201380.3(CNTNAP3B):c.1945G>A (p.Gly649Arg)	CNTNAP3B (G649R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146876	NM_001201380.3(CNTNAP3B):c.1933G>T (p.Gly645Cys)	CNTNAP3B (G645C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146875	NM_001201380.3(CNTNAP3B):c.1931G>A (p.Arg644Gln)	CNTNAP3B (R644Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146874	NM_001201380.3(CNTNAP3B):c.1915G>A (p.Asp639Asn)	CNTNAP3B (D639N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146873	NM_001201380.3(CNTNAP3B):c.1905C>A (p.His635Gln)	CNTNAP3B (H635Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146872	NM_001201380.3(CNTNAP3B):c.1900C>T (p.Arg634Trp)	CNTNAP3B (R634W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320773	NM_001201380.3(CNTNAP3B):c.1885G>A (p.Ala629Thr)	CNTNAP3B (A629T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463640	NM_001201380.3(CNTNAP3B):c.1862A>G (p.Tyr621Cys)	CNTNAP3B (Y621C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 402551	NM_001201380.3(CNTNAP3B):c.1844del (p.Leu615fs)	CNTNAP3B (L615fs)	Deletion (frameshift variant)	not specified	GBenign
Select item 2358755	NM_001201380.3(CNTNAP3B):c.1817A>G (p.Tyr606Cys)	CNTNAP3B (Y606C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146870	NM_001201380.3(CNTNAP3B):c.1793G>T (p.Arg598Leu)	CNTNAP3B (R598L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398166	NM_001201380.3(CNTNAP3B):c.1793G>A (p.Arg598Gln)	CNTNAP3B (R598Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146869	NM_001201380.3(CNTNAP3B):c.1765G>A (p.Glu589Lys)	CNTNAP3B (E589K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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