Related gene-specific medical variations for Gene (Select 23118) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 161

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3373642	NM_001292034.3(TAB2):c.1172C>T (p.Ala391Val)	LOC126859827, TAB2 (A359V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371974	NM_001292034.3(TAB2):c.1513C>T (p.His505Tyr)	LOC126859827, TAB2 (H473Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371447	NM_001292034.3(TAB2):c.1417C>T (p.Pro473Ser)	LOC126859827, TAB2 (P441S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369386	NM_001292034.3(TAB2):c.941T>C (p.Ile314Thr)	LOC126859827, TAB2 (I282T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361697	NM_001292034.3(TAB2):c.507A>T (p.Gln169His)	TAB2 (Q137H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359038	NM_001292034.3(TAB2):c.2050T>C (p.Cys684Arg)	TAB2 (C652R +1 more)	Single nucleotide variant (missense variant)	Congenital heart defects, multiple types, 2	GUncertain significance
Select item 3353255	NM_001292034.3(TAB2):c.1163A>G (p.Tyr388Cys)	LOC126859827, TAB2 (Y356C +1 more)	Single nucleotide variant (missense variant)	TAB2-related disorder	GUncertain significance
Select item 3324152	NM_001292034.3(TAB2):c.1186G>A (p.Gly396Arg)	LOC126859827, TAB2 (G364R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3324151	NM_001292034.3(TAB2):c.1105A>G (p.Ile369Val)	LOC126859827, TAB2 (I337V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3246224	NC_000006.11:g.(?_149691134)_(149700674_?)del	TAB2	Deletion	not provided	GPathogenic
Select item 3173217	NM_001292034.3(TAB2):c.935A>G (p.Tyr312Cys)	LOC126859827, TAB2 (Y312C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3173216	NM_001292034.3(TAB2):c.772A>G (p.Thr258Ala)	LOC126859827, TAB2 (T258A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3173209	NM_001292034.3(TAB2):c.1499C>T (p.Thr500Ile)	LOC126859827, TAB2 (T500I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3172109	NM_001002255.2(SUMO4):c.206G>C (p.Gly69Ala)	SUMO4, TAB2 (G69A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172108	NM_001002255.2(SUMO4):c.102T>G (p.Ile34Met)	SUMO4, TAB2 (I34M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3068516	NM_001292034.3(TAB2):c.1020_1021del (p.Lys340fs)	LOC126859827, TAB2 (K308fs +1 more)	Deletion (frameshift variant)	Congenital heart defects, multiple types, 2	GPathogenic
Select item 3067497	NM_001002255.2(SUMO4):c.168G>A (p.Lys56=)	SUMO4, TAB2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3064559	NM_001292034.3(TAB2):c.1739C>A (p.Ser580Ter)	TAB2 (S548* +1 more)	Single nucleotide variant (nonsense)	Congenital heart defects, multiple types, 2	GLikely pathogenic
Select item 3058316	NM_001292034.3(TAB2):c.919T>A (p.Ser307Thr)	LOC126859827, TAB2 (S275T +1 more)	Single nucleotide variant (missense variant)	TAB2-related disorder	GUncertain significance
Select item 3024330	NM_001292034.3(TAB2):c.1591_1593delinsTTTT (p.Ala531fs)	LOC126859827, TAB2 (A499fs +1 more)	Indel (frameshift variant)	Congenital heart defects, multiple types, 2	GLikely pathogenic
Select item 3022047	NM_001292034.3(TAB2):c.713A>G (p.Gln238Arg)	LOC126859827, TAB2 (Q238R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3021929	NM_001292034.3(TAB2):c.1468CTT[1] (p.Leu491del)	LOC126859827, TAB2 (L459del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 3012213	NM_001292034.3(TAB2):c.1465A>G (p.Asn489Asp)	LOC126859827, TAB2 (N457D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3009495	NM_001292034.3(TAB2):c.722C>A (p.Pro241His)	LOC126859827, TAB2 (P241H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3007363	NM_001292034.3(TAB2):c.1115G>A (p.Ser372Asn)	LOC126859827, TAB2 (S372N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3001874	NM_001292034.3(TAB2):c.1603+17A>G	LOC126859827, TAB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993645	NM_001292034.3(TAB2):c.1040G>A (p.Arg347Gln)	LOC126859827, TAB2 (R315Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2991910	NM_001292034.3(TAB2):c.690A>G (p.Gln230=)	LOC126859827, TAB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976664	NM_001292034.3(TAB2):c.871A>G (p.Thr291Ala)	LOC126859827, TAB2 (T291A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2971353	NM_001292034.3(TAB2):c.1355G>T (p.Arg452Leu)	LOC126859827, TAB2 (R420L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2875759	NM_001292034.3(TAB2):c.1043C>T (p.Thr348Ile)	LOC126859827, TAB2 (T316I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2875012	NM_001292034.3(TAB2):c.1493T>C (p.Val498Ala)	LOC126859827, TAB2 (V466A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2867936	NM_001292034.3(TAB2):c.779C>T (p.Pro260Leu)	LOC126859827, TAB2 (P228L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2827939	NM_001292034.3(TAB2):c.1437G>T (p.Gly479=)	LOC126859827, TAB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2814620	NM_001292034.3(TAB2):c.1119C>T (p.Pro373=)	LOC126859827, TAB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2803951	NM_001292034.3(TAB2):c.1165A>C (p.Ile389Leu)	LOC126859827, TAB2 (I389L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2709995	NM_001292034.3(TAB2):c.1267T>A (p.Ser423Thr)	LOC126859827, TAB2 (S423T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2703535	NM_001292034.3(TAB2):c.872C>G (p.Thr291Ser)	LOC126859827, TAB2 (T291S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662135	NM_001292034.3(TAB2):c.1205G>A (p.Arg402Gln)	LOC126859827, TAB2 (R370Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2661999	NM_001292034.3(TAB2):c.902C>G (p.Ser301Cys)	LOC126859827, TAB2 (S269C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2656989	NM_001002255.2(SUMO4):c.2T>C (p.Met1Thr)	SUMO4, TAB2 (M1T)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2630221	NM_001292034.3(TAB2):c.1115G>C (p.Ser372Thr)	LOC126859827, TAB2 (S340T +1 more)	Single nucleotide variant (missense variant)	TAB2-related disorder	GUncertain significance
Select item 2628577	NM_001292034.3(TAB2):c.1487A>G (p.His496Arg)	LOC126859827, TAB2 (H464R +1 more)	Single nucleotide variant (missense variant)	TAB2-related disorder +1 more	GUncertain significance
Select item 2627254	NM_001292034.3(TAB2):c.1547_1551del (p.Arg516fs)	LOC126859827, TAB2 (R484fs +1 more)	Deletion (frameshift variant)	Congenital heart defects, multiple types, 2	GPathogenic
Select item 2627070	NM_001292034.3(TAB2):c.1522del (p.Asp508fs)	LOC126859827, TAB2 (D476fs +1 more)	Deletion (frameshift variant)	Congenital heart defects, multiple types, 2	GLikely pathogenic
Select item 2611784	NM_001292034.3(TAB2):c.1526C>T (p.Pro509Leu)	LOC126859827, TAB2 (P477L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2579971	NM_001292034.3(TAB2):c.1356del (p.Val453fs)	LOC126859827, TAB2 (V421fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2579008	NM_001292034.3(TAB2):c.1385dup (p.Tyr462Ter)	LOC126859827, TAB2 (Y430* +1 more)	Duplication (nonsense)	not provided	GLikely pathogenic
Select item 2573884	NM_001292034.3(TAB2):c.1392C>G (p.Phe464Leu)	LOC126859827, TAB2 (F432L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2512211	NM_001002255.2(SUMO4):c.99G>T (p.Lys33Asn)	SUMO4, TAB2 (K33N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2506347	NM_001292034.3(TAB2):c.1105dup (p.Ile369fs)	LOC126859827, TAB2 (I337fs +1 more)	Duplication (frameshift variant)	Congenital heart defects, multiple types, 2	GPathogenic
Select item 2505202	NM_001292034.3(TAB2):c.1572del (p.Ser524fs)	LOC126859827, TAB2 (S492fs +1 more)	Deletion (frameshift variant)	Congenital heart defects, multiple types, 2	GPathogenic
Select item 2499025	NM_001292034.3(TAB2):c.1047C>T (p.Ser349=)	LOC126859827, TAB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2499024	NM_001292034.3(TAB2):c.917dup (p.Ser307fs)	LOC126859827, TAB2 (S275fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2467850	NM_001002255.2(SUMO4):c.27A>C (p.Glu9Asp)	SUMO4, TAB2 (E9D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2444290	NM_001292034.3(TAB2):c.1501G>T (p.Glu501Ter)	LOC126859827, TAB2 (E469* +1 more)	Single nucleotide variant (nonsense)	Congenital heart defects, multiple types, 2	GLikely pathogenic
Select item 2443078	NM_001292034.3(TAB2):c.1056del (p.Ser353fs)	LOC126859827, TAB2 (S321fs +1 more)	Deletion (frameshift variant)	Congenital heart defects, multiple types, 2	GPathogenic
Select item 2441831	NM_001292034.3(TAB2):c.473_474del (p.His158fs)	TAB2 (H126fs +1 more)	Deletion (frameshift variant)	Congenital heart defects, multiple types, 2	GPathogenic
Select item 2436925	NM_001292034.3(TAB2):c.1580C>T (p.Ser527Phe)	LOC126859827, TAB2 (S495F +1 more)	Single nucleotide variant (missense variant)	Congenital heart defects, multiple types, 2 +1 more	GUncertain significance
Select item 2436924	NM_001292034.3(TAB2):c.17A>G (p.His6Arg)	TAB2 (H6R)	Single nucleotide variant (missense variant +1 more)	Congenital heart defects, multiple types, 2	GUncertain significance
Select item 2431471	NM_001292034.3(TAB2):c.1433_1448del (p.Pro478fs)	LOC126859827, TAB2 (P446fs +1 more)	Deletion (frameshift variant)	Congenital heart defects, multiple types, 2	GLikely pathogenic
Select item 2430880	NM_001292034.3(TAB2):c.972C>A (p.Asn324Lys)	LOC126859827, TAB2 (N292K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2419777	NM_001292034.3(TAB2):c.827A>C (p.Gln276Pro)	LOC126859827, TAB2 (Q244P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2416546	NM_001292034.3(TAB2):c.1589C>A (p.Ala530Asp)	LOC126859827, TAB2 (A498D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2395000	NM_001292034.3(TAB2):c.975G>C (p.Gln325His)	LOC126859827, TAB2 (Q293H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373964	NM_001002255.2(SUMO4):c.199A>G (p.Ile67Val)	SUMO4, TAB2 (I67V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313509	NM_001292034.3(TAB2):c.1153C>T (p.Pro385Ser)	LOC126859827, TAB2 (P353S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287941	NM_001002255.2(SUMO4):c.214A>G (p.Lys72Glu)	SUMO4, TAB2 (K72E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258053	NM_001292034.3(TAB2):c.1010A>G (p.Asn337Ser)	LOC126859827, TAB2 (N305S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2255673	NM_001292034.3(TAB2):c.1037C>T (p.Pro346Leu)	LOC126859827, TAB2 (P314L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2189156	NM_001292034.3(TAB2):c.1068T>C (p.Asn356=)	LOC126859827, TAB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2185138	NM_001292034.3(TAB2):c.771T>C (p.Thr257=)	LOC126859827, TAB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2176915	NM_001292034.3(TAB2):c.725T>G (p.Met242Arg)	LOC126859827, TAB2 (M242R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2175209	NM_001292034.3(TAB2):c.1067A>G (p.Asn356Ser)	LOC126859827, TAB2 (N356S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2125184	NM_001292034.3(TAB2):c.1338C>T (p.Asn446=)	LOC126859827, TAB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2098523	NM_001292034.3(TAB2):c.1527_1529del (p.Thr510del)	LOC126859827, TAB2 (T478del +1 more)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2088989	NM_001292034.3(TAB2):c.698_699dup (p.Gly234fs)	LOC126859827, TAB2 (G234fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2069698	NM_001292034.3(TAB2):c.1238_1239del (p.Ser413fs)	LOC126859827, TAB2 (S381fs +1 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2028984	NM_001292034.3(TAB2):c.1558del (p.Thr520fs)	LOC126859827, TAB2 (T488fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2017707	NM_001292034.3(TAB2):c.1555del (p.Glu519fs)	LOC126859827, TAB2 (E519fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2015637	NM_001292034.3(TAB2):c.1426G>T (p.Val476Phe)	LOC126859827, TAB2 (V444F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1995941	NM_001292034.3(TAB2):c.1359G>A (p.Val453=)	LOC126859827, TAB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1986370	NM_001292034.3(TAB2):c.1500C>T (p.Thr500=)	LOC126859827, TAB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1967243	NM_001292034.3(TAB2):c.1362A>G (p.Val454=)	LOC126859827, TAB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1956929	NM_001292034.3(TAB2):c.1355G>A (p.Arg452Gln)	LOC126859827, TAB2 (R452Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1950751	NM_001292034.3(TAB2):c.1127C>T (p.Thr376Met)	LOC126859827, TAB2 (T344M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1947439	NM_001292034.3(TAB2):c.897T>C (p.His299=)	LOC126859827, TAB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1932849	NM_001292034.3(TAB2):c.958G>C (p.Gly320Arg)	LOC126859827, TAB2 (G320R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1916896	NM_001292034.3(TAB2):c.1173G>A (p.Ala391=)	LOC126859827, TAB2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1909136	NM_001292034.3(TAB2):c.1204C>T (p.Arg402Trp)	LOC126859827, TAB2 (R370W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1878225	NM_001292034.3(TAB2):c.1174A>G (p.Asn392Asp)	LOC126859827, TAB2 (N360D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1810103	NM_001292034.3(TAB2):c.1282A>G (p.Met428Val)	LOC126859827, TAB2 (M396V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1805200	NM_001292034.3(TAB2):c.1462dup (p.Thr488fs)	LOC126859827, TAB2 (T456fs +1 more)	Duplication (frameshift variant)	Congenital heart defects, multiple types, 2	GPathogenic
Select item 1803715	NM_001292034.3(TAB2):c.998C>G (p.Pro333Arg)	LOC126859827, TAB2 (P301R +1 more)	Single nucleotide variant (missense variant)	TAB2-related syndrome	GUncertain significance
Select item 1800997	NM_001292034.3(TAB2):c.766T>C (p.Trp256Arg)	LOC126859827, TAB2 (W224R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1723849	NM_001292034.3(TAB2):c.1332C>T (p.Gly444=)	LOC126859827, TAB2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1700889	NM_001292034.3(TAB2):c.1939+1208A>G	SUMO4, TAB2 (M1V)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 1695798	NM_001292034.3(TAB2):c.1025G>A (p.Arg342His)	LOC126859827, TAB2 (R310H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1686244	NM_001292034.3(TAB2):c.1491T>G (p.Tyr497Ter)	LOC126859827, TAB2 (Y465* +1 more)	Single nucleotide variant (nonsense)	Congenital heart defects, multiple types, 2	GPathogenic
Select item 1683671	NM_001292034.3(TAB2):c.1104C>G (p.Tyr368Ter)	LOC126859827, TAB2 (Y336* +1 more)	Single nucleotide variant (nonsense)	Congenital heart defects, multiple types, 2	GLikely pathogenic

<< First< Prev

Page of 2