ClinVar for Gene (Select 8506) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3067376	NM_003632.3(CNTNAP1):c.1992T>C (p.Asn664=)	CNTNAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3049413	NM_003632.3(CNTNAP1):c.3015G>A (p.Pro1005=)	CNTNAP1	Single nucleotide variant (synonymous variant)	CNTNAP1-related condition	GLikely benign
Select item 3047865	NM_003632.3(CNTNAP1):c.716-31_716-9dup	CNTNAP1	Duplication (intron variant)	CNTNAP1-related condition	GLikely benign
Select item 3047213	NM_003632.3(CNTNAP1):c.309C>G (p.Leu103=)	CNTNAP1	Single nucleotide variant (synonymous variant)	CNTNAP1-related condition	GLikely benign
Select item 3045193	NM_003632.3(CNTNAP1):c.3960C>T (p.Pro1320=)	CNTNAP1, LOC128669077	Single nucleotide variant (synonymous variant)	CNTNAP1-related condition	GLikely benign
Select item 3038509	NM_003632.3(CNTNAP1):c.3475-27CCCTCC[4]	CNTNAP1	Microsatellite (intron variant)	CNTNAP1-related condition	GLikely benign
Select item 3030372	NM_003632.3(CNTNAP1):c.4077A>C (p.Pro1359=)	CNTNAP1, LOC128669077	Single nucleotide variant (synonymous variant)	CNTNAP1-related condition	GLikely benign
Select item 3025963	NM_003632.3(CNTNAP1):c.3267C>T (p.Ser1089=)	CNTNAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025648	NM_003632.3(CNTNAP1):c.2418C>T (p.Ser806=)	CNTNAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3021181	NM_003632.3(CNTNAP1):c.3568+19C>T	CNTNAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010302	NM_003632.3(CNTNAP1):c.715+11C>T	CNTNAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991477	NM_003632.3(CNTNAP1):c.2345-17_2345-15del	CNTNAP1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2990073	NM_003632.3(CNTNAP1):c.2344+17T>G	CNTNAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978469	NM_003632.3(CNTNAP1):c.2956G>C (p.Asp986His)	CNTNAP1 (D986H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2973676	NM_003632.3(CNTNAP1):c.2531-18C>T	CNTNAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970961	NM_003632.3(CNTNAP1):c.2216+15G>A	CNTNAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967701	NM_003632.3(CNTNAP1):c.3498G>A (p.Glu1166=)	CNTNAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2960694	NM_003632.3(CNTNAP1):c.169+12G>T	CNTNAP1, LOC125177481	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2918521	NM_003632.3(CNTNAP1):c.2445C>G (p.Thr815=)	CNTNAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2912413	NM_003632.3(CNTNAP1):c.3822C>T (p.Pro1274=)	CNTNAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2909414	NM_003632.3(CNTNAP1):c.715+8C>T	CNTNAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2901015	NM_003632.3(CNTNAP1):c.426T>C (p.Thr142=)	CNTNAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2900393	NM_003632.3(CNTNAP1):c.2340C>T (p.Gly780=)	CNTNAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2879096	NM_003632.3(CNTNAP1):c.1044+18T>A	CNTNAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2833695	NM_003632.3(CNTNAP1):c.1347T>C (p.Phe449=)	CNTNAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2829638	NM_003632.3(CNTNAP1):c.33C>T (p.Leu11=)	CNTNAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2823658	NM_003632.3(CNTNAP1):c.2753-9C>G	CNTNAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2794796	NM_003632.3(CNTNAP1):c.1533G>A (p.Lys511=)	CNTNAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2783015	NM_003632.3(CNTNAP1):c.3204T>C (p.Pro1068=)	CNTNAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2778066	NM_003632.3(CNTNAP1):c.715+11C>G	CNTNAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2765880	NM_003632.3(CNTNAP1):c.511+9G>T	CNTNAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2699075	NM_003632.3(CNTNAP1):c.2992+7G>A	CNTNAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2688807	NM_003632.3(CNTNAP1):c.2341G>C (p.Asp781His)	CNTNAP1 (D781H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688806	NM_003632.3(CNTNAP1):c.391G>A (p.Ala131Thr)	CNTNAP1 (A131T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683424	NM_003632.3(CNTNAP1):c.4021C>G (p.Gln1341Glu)	CNTNAP1, LOC128669077 (Q1341E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683423	NM_003632.3(CNTNAP1):c.3477G>A (p.Val1159=)	CNTNAP1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2683422	NM_003632.3(CNTNAP1):c.3332T>C (p.Leu1111Pro)	CNTNAP1 (L1111P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683420	NM_003632.3(CNTNAP1):c.1418C>T (p.Pro473Leu)	CNTNAP1 (P473L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683419	NM_003632.3(CNTNAP1):c.1417C>T (p.Pro473Ser)	CNTNAP1 (P473S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2671767	NM_003632.3(CNTNAP1):c.1446T>G (p.Tyr482Ter)	CNTNAP1 (Y482*)	Single nucleotide variant (nonsense)	Neuropathy, congenital hypomyelinating, 3	GLikely pathogenic
Select item 2664879	NM_003632.3(CNTNAP1):c.2152_2154del (p.Gly718del)	CNTNAP1 (G718del)	Deletion (inframe_deletion)	Lethal congenital contracture syndrome 7	GUncertain significance
Select item 2647803	NM_003632.3(CNTNAP1):c.3972C>T (p.His1324=)	CNTNAP1, LOC128669077	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647802	NM_003632.3(CNTNAP1):c.3930C>T (p.Arg1310=)	CNTNAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647801	NM_003632.3(CNTNAP1):c.2457G>A (p.Ser819=)	CNTNAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647800	NM_003632.3(CNTNAP1):c.2028C>T (p.Ser676=)	CNTNAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647799	NM_003632.3(CNTNAP1):c.1574G>A (p.Arg525Gln)	CNTNAP1 (R525Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2647798	NM_003632.3(CNTNAP1):c.1545A>G (p.Gln515=)	CNTNAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2616252	NM_003632.3(CNTNAP1):c.520A>C (p.Ile174Leu)	CNTNAP1 (I174L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608771	NM_003632.3(CNTNAP1):c.172A>G (p.Ile58Val)	CNTNAP1, LOC125177481 (I58V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2557926	NM_003632.3(CNTNAP1):c.136C>A (p.Leu46Ile)	CNTNAP1, LOC125177481 (L46I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2548006	NM_003632.3(CNTNAP1):c.2683C>T (p.Pro895Ser)	CNTNAP1 (P895S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525503	NM_003632.3(CNTNAP1):c.10C>T (p.Leu4Phe)	CNTNAP1 (L4F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2523955	NM_003632.3(CNTNAP1):c.1300G>A (p.Ala434Thr)	CNTNAP1 (A434T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514187	NM_003632.3(CNTNAP1):c.3995C>T (p.Pro1332Leu)	CNTNAP1, LOC128669077 (P1332L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2513211	NM_003632.3(CNTNAP1):c.842G>T (p.Gly281Val)	CNTNAP1 (G281V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511731	NM_003632.3(CNTNAP1):c.2509T>C (p.Tyr837His)	CNTNAP1 (Y837H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509157	NM_003632.3(CNTNAP1):c.3235G>A (p.Val1079Ile)	CNTNAP1 (V1079I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481477	NM_003632.3(CNTNAP1):c.4049A>G (p.Asn1350Ser)	CNTNAP1, LOC128669077 (N1350S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478673	NM_003632.3(CNTNAP1):c.3763C>T (p.Arg1255Cys)	CNTNAP1 (R1255C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2440175	NM_003632.3(CNTNAP1):c.3814+2T>A	CNTNAP1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2440174	NM_003632.3(CNTNAP1):c.67T>C (p.Tyr23His)	CNTNAP1 (Y23H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439167	NM_003632.3(CNTNAP1):c.2089C>T (p.Arg697Ter)	CNTNAP1 (R697*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2435747	NM_003632.3(CNTNAP1):c.1735+1G>A	CNTNAP1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2428581	NM_003632.3(CNTNAP1):c.980T>A (p.Val327Glu)	CNTNAP1 (V327E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2422001	NM_003632.3(CNTNAP1):c.2472G>A (p.Glu824=)	CNTNAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2421699	NM_003632.3(CNTNAP1):c.951G>T (p.Arg317=)	CNTNAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2420711	NM_003632.3(CNTNAP1):c.1879C>T (p.Arg627Trp)	CNTNAP1 (R627W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2420068	NM_003632.3(CNTNAP1):c.1707G>A (p.Thr569=)	CNTNAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2417280	NM_003632.3(CNTNAP1):c.1735+8A>G	CNTNAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2415215	NM_003632.3(CNTNAP1):c.450C>T (p.Pro150=)	CNTNAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2413662	NM_003632.3(CNTNAP1):c.1066C>G (p.Leu356Val)	CNTNAP1 (L356V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2409409	NM_003632.3(CNTNAP1):c.418C>T (p.His140Tyr)	CNTNAP1 (H140Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2387254	NM_003632.3(CNTNAP1):c.1859A>G (p.Asn620Ser)	CNTNAP1 (N620S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373283	NM_003632.3(CNTNAP1):c.2995A>T (p.Ile999Phe)	CNTNAP1 (I999F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340869	NM_003632.3(CNTNAP1):c.2840C>T (p.Ala947Val)	CNTNAP1 (A947V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340800	NM_003632.3(CNTNAP1):c.3388G>A (p.Val1130Met)	CNTNAP1 (V1130M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338635	NM_003632.3(CNTNAP1):c.2478G>A (p.Met826Ile)	CNTNAP1 (M826I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314394	NM_003632.3(CNTNAP1):c.2266C>A (p.Gln756Lys)	CNTNAP1 (Q756K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309072	NM_003632.3(CNTNAP1):c.3088C>T (p.Arg1030Trp)	CNTNAP1 (R1030W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300952	NM_003632.3(CNTNAP1):c.3239C>T (p.Thr1080Met)	CNTNAP1 (T1080M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294717	NM_003632.3(CNTNAP1):c.3401C>T (p.Thr1134Ile)	CNTNAP1 (T1134I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292703	NM_003632.3(CNTNAP1):c.389C>T (p.Ser130Leu)	CNTNAP1 (S130L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272408	NM_003632.3(CNTNAP1):c.3736T>A (p.Ser1246Thr)	CNTNAP1 (S1246T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260892	NM_003632.3(CNTNAP1):c.2894G>A (p.Arg965Gln)	CNTNAP1 (R965Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230851	NM_003632.3(CNTNAP1):c.68-4C>T	CNTNAP1, LOC125177481	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2225206	NM_003632.3(CNTNAP1):c.4084_4095del (p.Thr1362_Pro1365del)	CNTNAP1, LOC128669077	Deletion (inframe_deletion)	Inborn genetic diseases	GUncertain significance
Select item 2219852	NM_003632.3(CNTNAP1):c.2804G>A (p.Arg935His)	CNTNAP1 (R935H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2216877	NM_003632.3(CNTNAP1):c.3148C>T (p.Pro1050Ser)	CNTNAP1 (P1050S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2215920	NM_003632.3(CNTNAP1):c.4069C>T (p.Pro1357Ser)	CNTNAP1, LOC128669077 (P1357S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2203033	NM_003632.3(CNTNAP1):c.2238G>A (p.Leu746=)	CNTNAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2190457	NM_003632.3(CNTNAP1):c.3137C>T (p.Pro1046Leu)	CNTNAP1 (P1046L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2190167	NM_003632.3(CNTNAP1):c.1209G>T (p.Leu403=)	CNTNAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2186038	NM_003632.3(CNTNAP1):c.1947C>T (p.Ile649=)	CNTNAP1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2184187	NM_003632.3(CNTNAP1):c.4109G>A (p.Arg1370Gln)	CNTNAP1, LOC128669077 (R1370Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2180839	NM_003632.3(CNTNAP1):c.1323C>T (p.Asp441=)	CNTNAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2178270	NM_003632.3(CNTNAP1):c.2619C>T (p.Asp873=)	CNTNAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2176420	NM_003632.3(CNTNAP1):c.2199C>T (p.Asp733=)	CNTNAP1	Single nucleotide variant (synonymous variant)	CNTNAP1-related condition +1 more	GLikely benign
Select item 2175641	NM_003632.3(CNTNAP1):c.3815-4C>T	CNTNAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2175592	NM_003632.3(CNTNAP1):c.2577G>A (p.Glu859=)	CNTNAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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