Related gene-specific medical variations for Gene (Select 26115) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 105

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235923	NM_001394998.1(TANC2):c.1808del (p.Glu603fs)	TANC2 (E529fs +1 more)	Deletion (frameshift variant)	Intellectual developmental disorder with autistic features and language delay, with or without seizures	GLikely pathogenic
Select item 3234916	NM_001394998.1(TANC2):c.3671G>A (p.Arg1224His)	LOC105371856, TANC2 (R1150H +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autistic features and language delay, with or without seizures	GUncertain significance
Select item 3234783	NM_001394998.1(TANC2):c.3929-7A>G	LOC105371856, TANC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3173738	NM_001394998.1(TANC2):c.3695C>T (p.Ala1232Val)	LOC105371856, TANC2 (A1232V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3173737	NM_001394998.1(TANC2):c.3670C>T (p.Arg1224Cys)	LOC105371856, TANC2 (R1150C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3173736	NM_001394998.1(TANC2):c.3449G>A (p.Arg1150His)	LOC105371856, TANC2 (R1076H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3173735	NM_001394998.1(TANC2):c.3318C>T (p.Leu1106=)	LOC105371856, TANC2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3067908	NM_001394998.1(TANC2):c.2798A>G (p.Tyr933Cys)	LOC105371856, TANC2 (Y859C +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autistic features and language delay, with or without seizures	GUncertain significance
Select item 3067500	NM_001394998.1(TANC2):c.3221G>C (p.Ser1074Thr)	LOC105371856, TANC2 (S1000T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3065963	NM_001394998.1(TANC2):c.5222G>A (p.Arg1741Gln)	TANC2 (R1657Q +2 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autistic features and language delay, with or without seizures	GUncertain significance
Select item 3065508	NM_001394998.1(TANC2):c.2044del (p.Gln682fs)	TANC2 (Q608fs +1 more)	Deletion (frameshift variant)	Intellectual developmental disorder with autistic features and language delay, with or without seizures	GLikely pathogenic
Select item 3065027	NM_001394998.1(TANC2):c.1042T>A (p.Ser348Thr)	TANC2 (S274T +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autistic features and language delay, with or without seizures	GUncertain significance
Select item 3062064	NM_001394998.1(TANC2):c.6053T>C (p.Leu2018Pro)	TANC2 (L1934P +2 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autistic features and language delay, with or without seizures	GUncertain significance
Select item 3051448	NM_001394998.1(TANC2):c.3354G>A (p.Arg1118=)	LOC105371856, TANC2	Single nucleotide variant (synonymous variant)	TANC2-related disorder	GLikely benign
Select item 3048287	NM_001394998.1(TANC2):c.3804C>T (p.His1268=)	LOC105371856, TANC2	Single nucleotide variant (synonymous variant)	TANC2-related disorder	GLikely benign
Select item 3047468	NM_001394998.1(TANC2):c.3202G>A (p.Ala1068Thr)	LOC105371856, TANC2 (A1068T +1 more)	Single nucleotide variant (missense variant)	TANC2-related disorder	GUncertain significance
Select item 3044595	NM_001394998.1(TANC2):c.3762G>A (p.Glu1254=)	LOC105371856, TANC2	Single nucleotide variant (synonymous variant)	TANC2-related disorder	GLikely benign
Select item 3043538	NM_001394998.1(TANC2):c.3661T>C (p.Ser1221Pro)	LOC105371856, TANC2 (S1147P +1 more)	Single nucleotide variant (missense variant)	TANC2-related disorder	GBenign
Select item 3031128	NM_001394998.1(TANC2):c.3388C>T (p.Gln1130Ter)	LOC105371856, TANC2 (Q1056* +1 more)	Single nucleotide variant (nonsense)	TANC2-related disorder	GLikely pathogenic
Select item 3027184	NM_001394998.1(TANC2):c.3980T>A (p.Leu1327Gln)	LOC105371856, TANC2 (L1243Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3025737	NM_001394998.1(TANC2):c.3996G>A (p.Met1332Ile)	LOC105371856, TANC2 (M1248I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3025682	NM_001394998.1(TANC2):c.2747C>T (p.Ser916Phe)	LOC105371856, TANC2 (S842F +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2662179	NM_001394998.1(TANC2):c.3329C>T (p.Thr1110Ile)	LOC105371856, TANC2 (T1036I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2648061	NM_001394998.1(TANC2):c.3944C>T (p.Ala1315Val)	LOC105371856, TANC2 (A1231V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2648060	NM_001394998.1(TANC2):c.3868G>C (p.Val1290Leu)	LOC105371856, TANC2 (V1216L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2648059	NM_001394998.1(TANC2):c.3567C>T (p.Thr1189=)	LOC105371856, TANC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648058	NM_001394998.1(TANC2):c.3420A>T (p.Arg1140=)	LOC105371856, TANC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648057	NM_001394998.1(TANC2):c.3350G>C (p.Gly1117Ala)	LOC105371856, TANC2 (G1043A +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2648056	NM_001394998.1(TANC2):c.2757A>C (p.Thr919=)	LOC105371856, TANC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2593094	NM_001394998.1(TANC2):c.3161A>G (p.Gln1054Arg)	LOC105371856, TANC2 (Q1054R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2581918	NM_001394998.1(TANC2):c.3199C>G (p.Gln1067Glu)	LOC105371856, TANC2 (Q1067E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2578794	NM_001394998.1(TANC2):c.3798C>T (p.Ile1266=)	LOC105371856, TANC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2576141	NM_001394998.1(TANC2):c.1534C>T (p.Arg512Cys)	TANC2 (R438C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576031	NM_001394998.1(TANC2):c.1372G>A (p.Val458Met)	TANC2 (V384M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2570998	NM_001394998.1(TANC2):c.3753C>T (p.Gly1251=)	LOC105371856, TANC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2503232	NM_001394998.1(TANC2):c.3656A>G (p.His1219Arg)	LOC105371856, TANC2 (H1145R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2501911	NM_001394998.1(TANC2):c.3861TGT[2] (p.Val1290del)	LOC105371856, TANC2 (V1216del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2498720	NM_001394998.1(TANC2):c.3052-2244T>G	LOC105371856, TANC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2482478	NM_001394998.1(TANC2):c.2962T>G (p.Ser988Ala)	LOC105371856, TANC2 (S914A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473835	NM_001394998.1(TANC2):c.3238-1G>A	LOC105371856, TANC2	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases	GPathogenic
Select item 2444546	NM_001394998.1(TANC2):c.3373C>T (p.Arg1125Cys)	LOC105371856, TANC2 (R1051C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2442109	NM_001394998.1(TANC2):c.4912T>C (p.Tyr1638His)	TANC2 (Y1554H +2 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autistic features and language delay, with or without seizures	GUncertain significance
Select item 2436950	NM_001394998.1(TANC2):c.1111A>G (p.Met371Val)	TANC2 (M297V +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autistic features and language delay, with or without seizures	GUncertain significance
Select item 2436949	NM_001394998.1(TANC2):c.2858G>A (p.Arg953Gln)	LOC105371856, TANC2 (R879Q +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autistic features and language delay, with or without seizures	GUncertain significance
Select item 2436948	NM_001394998.1(TANC2):c.6077C>T (p.Ser2026Phe)	TANC2 (S1942F +2 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autistic features and language delay, with or without seizures	GUncertain significance
Select item 2436947	NM_001394998.1(TANC2):c.1954A>G (p.Thr652Ala)	TANC2 (T578A +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autistic features and language delay, with or without seizures	GUncertain significance
Select item 2436946	NM_001394998.1(TANC2):c.601C>T (p.Arg201Trp)	TANC2 (R127W +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autistic features and language delay, with or without seizures	GUncertain significance
Select item 2436945	NM_001394998.1(TANC2):c.1441+3A>G	TANC2	Single nucleotide variant (intron variant)	Intellectual developmental disorder with autistic features and language delay, with or without seizures	GUncertain significance
Select item 2436944	NM_001394998.1(TANC2):c.5403C>G (p.Ile1801Met)	TANC2 (I1717M +2 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autistic features and language delay, with or without seizures	GUncertain significance
Select item 2436943	NM_001394998.1(TANC2):c.936T>G (p.Ser312Arg)	TANC2 (S238R +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autistic features and language delay, with or without seizures	GUncertain significance
Select item 2436942	NM_001394998.1(TANC2):c.6121C>G (p.Gln2041Glu)	TANC2 (Q1957E +2 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autistic features and language delay, with or without seizures	GUncertain significance
Select item 2436941	NM_001394998.1(TANC2):c.5404G>A (p.Gly1802Arg)	TANC2 (G1718R +2 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autistic features and language delay, with or without seizures	GUncertain significance
Select item 2436940	NM_001394998.1(TANC2):c.6177G>A (p.Gln2059=)	TANC2	Single nucleotide variant (synonymous variant)	Intellectual developmental disorder with autistic features and language delay, with or without seizures	GUncertain significance
Select item 2436939	NM_001394998.1(TANC2):c.6098T>C (p.Val2033Ala)	TANC2 (V1949A +2 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autistic features and language delay, with or without seizures	GUncertain significance
Select item 2436938	NM_001394998.1(TANC2):c.4370G>A (p.Arg1457Lys)	TANC2 (R1373K +2 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autistic features and language delay, with or without seizures	GUncertain significance
Select item 2431535	NM_001394998.1(TANC2):c.2698A>C (p.Ser900Arg)	LOC105371856, TANC2 (S826R +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autistic features and language delay, with or without seizures	GUncertain significance
Select item 2430016	NM_001394998.1(TANC2):c.5596T>G (p.Phe1866Val)	TANC2 (F1782V +2 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 2430015	NM_001394998.1(TANC2):c.4328G>A (p.Arg1443His)	TANC2 (R1359H +2 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 2430014	NM_001394998.1(TANC2):c.3866T>C (p.Val1289Ala)	LOC105371856, TANC2 (V1215A +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 2430012	NM_001394998.1(TANC2):c.3073G>A (p.Gly1025Arg)	LOC105371856, TANC2 (G1025R +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 2429432	NM_001394998.1(TANC2):c.2866G>A (p.Val956Ile)	LOC105371856, TANC2 (V882I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2428572	NM_001394998.1(TANC2):c.5585T>A (p.Val1862Glu)	TANC2 (V1778E +2 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autistic features and language delay, with or without seizures	GUncertain significance
Select item 2394485	NM_001394998.1(TANC2):c.3857C>T (p.Thr1286Ile)	LOC105371856, TANC2 (T1286I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364873	NM_001394998.1(TANC2):c.3559C>G (p.Leu1187Val)	LOC105371856, TANC2 (L1187V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340428	NM_001394998.1(TANC2):c.2755A>G (p.Thr919Ala)	LOC105371856, TANC2 (T845A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2334691	NM_001394998.1(TANC2):c.2789G>A (p.Arg930Gln)	LOC105371856, TANC2 (R856Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2277406	NM_001394998.1(TANC2):c.2993A>G (p.Tyr998Cys)	LOC105371856, TANC2 (Y998C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252560	NM_001394998.1(TANC2):c.4013T>A (p.Phe1338Tyr)	LOC105371856, TANC2 (F1264Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238240	NM_001394998.1(TANC2):c.3259C>G (p.Leu1087Val)	LOC105371856, TANC2 (L1087V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2227924	NM_001394998.1(TANC2):c.3886G>A (p.Gly1296Arg)	LOC105371856, TANC2 (G1222R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221453	NM_001394998.1(TANC2):c.3044G>A (p.Arg1015Gln)	LOC105371856, TANC2 (R941Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213190	NM_001394998.1(TANC2):c.2713G>A (p.Val905Ile)	LOC105371856, TANC2 (V905I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1984871	NM_001394998.1(TANC2):c.3457C>A (p.His1153Asn)	LOC105371856, TANC2 (H1153N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1896579	NM_001394998.1(TANC2):c.3698C>T (p.Thr1233Ile)	LOC105371856, TANC2 (T1233I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1879379	NM_001394998.1(TANC2):c.3608T>C (p.Met1203Thr)	LOC105371856, TANC2 (M1129T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1879378	NM_001394998.1(TANC2):c.3075del (p.Gln1026fs)	LOC105371856, TANC2 (Q1026fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1800576	NM_001394998.1(TANC2):c.3575T>C (p.Phe1192Ser)	LOC105371856, TANC2 (F1118S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1701664	NM_001394998.1(TANC2):c.5247_5249del (p.Gly1750del)	TANC2 (G1666del +1 more)	Deletion (inframe_deletion)	Intellectual developmental disorder with autistic features and language delay, with or without seizures	GUncertain significance
Select item 1701326	NM_001394998.1(TANC2):c.3331+5C>T	LOC105371856, TANC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1700182	NM_001394998.1(TANC2):c.2890T>C (p.Cys964Arg)	TANC2, LOC105371856 (C890R +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental delay	GUncertain significance
Select item 1699450	NM_001394998.1(TANC2):c.2767T>C (p.Ser923Pro)	LOC105371856, TANC2 (S849P +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autistic features and language delay, with or without seizures	GUncertain significance
Select item 1696750	NM_001394998.1(TANC2):c.323-24667_323-24660del	TANC2	Deletion (intron variant)	Intellectual developmental disorder with autistic features and language delay, with or without seizures	GUncertain significance
Select item 1696471	NM_001394998.1(TANC2):c.*3034T>C	TANC2	Single nucleotide variant (3 prime UTR variant)	Intellectual developmental disorder with autistic features and language delay, with or without seizures	GUncertain significance
Select item 1684299	NM_001394998.1(TANC2):c.3183G>T (p.Lys1061Asn)	LOC105371856, TANC2 (K1061N +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autistic features and language delay, with or without seizures	GUncertain significance
Select item 1675686	NM_001394998.1(TANC2):c.3805G>A (p.Val1269Ile)	LOC105371856, TANC2 (V1195I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1344962	NM_001394998.1(TANC2):c.3727C>G (p.Pro1243Ala)	LOC105371856, TANC2 (P1169A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1325560	NM_001394998.1(TANC2):c.2951A>G (p.Asn984Ser)	LOC105371856, TANC2 (N910S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1325169	NM_001394998.1(TANC2):c.3765+2T>C	TANC2, LOC105371856	Single nucleotide variant (splice donor variant)	Intellectual developmental disorder with autistic features and language delay, with or without seizures +1 more	GConflicting classifications of pathogenicity
Select item 1316942	NM_001394998.1(TANC2):c.3290G>A (p.Arg1097Gln)	LOC105371856, TANC2 (R1023Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1316047	NM_001394998.1(TANC2):c.2735G>T (p.Gly912Val)	LOC105371856, TANC2 (G838V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1299810	NM_001394998.1(TANC2):c.3549C>T (p.Ser1183=)	LOC105371856, TANC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1298718	NM_001394998.1(TANC2):c.3466-1G>A	LOC105371856, TANC2	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1297026	NM_001394998.1(TANC2):c.2856C>A (p.Tyr952Ter)	LOC105371856, TANC2 (Y878* +1 more)	Single nucleotide variant (nonsense)	Intellectual developmental disorder with autistic features and language delay, with or without seizures	GPathogenic
Select item 1184298	NM_001394998.1(TANC2):c.1894A>G (p.Ile632Val)	TANC2 (I558V +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autistic features and language delay, with or without seizures	GUncertain significance
Select item 982243	NM_001394998.1(TANC2):c.3765+1G>T	LOC105371856, TANC2	Single nucleotide variant (splice donor variant)	Intellectual disability	GLikely pathogenic
Select item 982241	NM_001394998.1(TANC2):c.3003del (p.Ala1002fs)	LOC105371856, TANC2 (A928fs +1 more)	Deletion (frameshift variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 982151	NM_001394998.1(TANC2):c.3104G>A (p.Arg1035Gln)	TANC2, LOC105371856 (R961Q +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GUncertain significance
Select item 978141	NM_001394998.1(TANC2):c.3453G>C (p.Gln1151His)	LOC105371856, TANC2 (Q1077H +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 977604	NM_001394998.1(TANC2):c.3619G>T (p.Gly1207Ter)	LOC105371856, TANC2 (G1133* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability	GPathogenic
Select item 977302	GRCh37/hg19 17q23.3(chr17:61167025-61353248)x1	TANC2	Copy number loss	Intellectual developmental disorder with autistic features and language delay, with or without seizures	GUncertain significance

<< First< Prev

Page of 2