"GeneDx"[submitter] AND "TAB2"[gene] - ClinVar

Search results

Items: 94

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1291138	NM_001292034.3(TAB2):c.-89-320A>C	TAB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272854	NM_001292034.3(TAB2):c.-89-308A>G	TAB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198922	NM_001292034.3(TAB2):c.-89-238G>A	TAB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1228180	NM_001292034.3(TAB2):c.-89-16TTTC[4]	TAB2	Microsatellite (intron variant)	not provided	GBenign
Select item 1908034	NM_001292034.3(TAB2):c.25G>A (p.Asp9Asn)	TAB2 (D9N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2662697	NM_001292034.3(TAB2):c.50G>A (p.Arg17Gln)	TAB2 (R17Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1710651	NM_001292034.3(TAB2):c.82G>A (p.Val28Ile)	TAB2 (V28I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1235661	NM_001292034.3(TAB2):c.102+58del	TAB2	Deletion (intron variant)	not provided	GBenign
Select item 1259650	NM_001292034.3(TAB2):c.102+120T>G	TAB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295410	NM_001292034.3(TAB2):c.103-252G>T	TAB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234365	NM_001292034.3(TAB2):c.103-201_103-198del	TAB2	Deletion (intron variant)	not provided	GBenign
Select item 1174413	NM_001292034.3(TAB2):c.103-138A>T	TAB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 432811	NM_001292034.3(TAB2):c.103A>G (p.Asn35Asp)	TAB2 (N35D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2446063	NM_001292034.3(TAB2):c.104A>G (p.Asn35Ser)	TAB2 (N35S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 729745	NM_001292034.3(TAB2):c.156A>G (p.Arg52=)	TAB2	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 3373059	NM_001292034.3(TAB2):c.176A>G (p.Asp59Gly)	TAB2 (D27G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2446657	NM_001292034.3(TAB2):c.251C>T (p.Ser84Leu)	TAB2 (S52L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 373469	NM_001292034.3(TAB2):c.251C>A (p.Ser84Ter)	TAB2 (S84* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1699675	NM_001292034.3(TAB2):c.255G>C (p.Gln85His)	TAB2 (Q53H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1174368	NM_001292034.3(TAB2):c.282A>G (p.Gly94=)	TAB2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2662869	NM_001292034.3(TAB2):c.297A>G (p.Gly99=)	TAB2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1309279	NM_001292034.3(TAB2):c.311C>T (p.Thr104Met)	TAB2 (T104M +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1368867	NM_001292034.3(TAB2):c.352A>T (p.Asn118Tyr)	TAB2 (N118Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 372702	NM_001292034.3(TAB2):c.403C>T (p.Gln135Ter)	TAB2 (Q135* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3370601	NM_001292034.3(TAB2):c.424A>G (p.Met142Val)	TAB2 (M110V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364053	NM_001292034.3(TAB2):c.440G>A (p.Gly147Asp)	TAB2 (G115D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253321	NM_001292034.3(TAB2):c.508C>T (p.Gln170Ter)	TAB2 (Q138* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3368828	NM_001292034.3(TAB2):c.542T>G (p.Leu181Ter)	TAB2 (L149* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1428421	NM_001292034.3(TAB2):c.566G>A (p.Arg189His)	TAB2 (R157H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1314886	NM_001292034.3(TAB2):c.588C>T (p.His196=)	TAB2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1300827	NM_001292034.3(TAB2):c.597T>G (p.Gly199=)	TAB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1802104	NM_001292034.3(TAB2):c.608_609insA (p.Val204fs)	TAB2 (V172fs +1 more)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 561124	NM_001292034.3(TAB2):c.679C>T (p.Arg227Ter)	LOC126859827, TAB2 (R227* +1 more)	Single nucleotide variant (nonsense)	Congenital heart defects, multiple types, 2 +4 more	GPathogenic/Likely pathogenic
Select item 5212	NM_001292034.3(TAB2):c.688C>A (p.Gln230Lys)	LOC126859827, TAB2 (Q230K +1 more)	Single nucleotide variant (missense variant)	not provided	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 1312212	NM_001292034.3(TAB2):c.844C>T (p.His282Tyr)	LOC126859827, TAB2 (H250Y +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 422085	NM_001292034.3(TAB2):c.913_914del (p.Gln305fs)	LOC126859827, TAB2 (Q305fs +1 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
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 1188284	NM_001292034.3(TAB2):c.964C>T (p.Arg322Ter)	LOC126859827, TAB2 (R290* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 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 373443	NM_001292034.3(TAB2):c.1039C>T (p.Arg347Ter)	LOC126859827, TAB2 (R347* +1 more)	Single nucleotide variant (nonsense)	Rectal prolapse +5 more	GPathogenic/Likely pathogenic
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 3378311	NM_001292034.3(TAB2):c.1048A>T (p.Ser350Cys)	LOC126859827, TAB2 (S318C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 780666	NM_001292034.3(TAB2):c.1128G>A (p.Thr376=)	LOC126859827, TAB2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
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 372837	NM_001292034.3(TAB2):c.1195C>T (p.Gln399Ter)	LOC126859827, TAB2 (Q399* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
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 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 1188486	NM_001292034.3(TAB2):c.1308T>G (p.His436Gln)	LOC126859827, TAB2 (H404Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 488615	NM_001292034.3(TAB2):c.1321C>T (p.Arg441Ter)	LOC126859827, TAB2 (R441* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
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 1328249	NM_001292034.3(TAB2):c.1340_1341del (p.Ser447fs)	LOC126859827, TAB2 (S415fs +1 more)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2579971	NM_001292034.3(TAB2):c.1356del (p.Val453fs)	LOC126859827, TAB2 (V421fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 373684	NM_001292034.3(TAB2):c.1376A>G (p.Asn459Ser)	LOC126859827, TAB2 (N459S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1253994	NM_001292034.3(TAB2):c.1380G>A (p.Thr460=)	LOC126859827, TAB2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 280439	NM_001292034.3(TAB2):c.1386del (p.Lys461_Tyr462insTer)	LOC126859827, TAB2	Deletion (nonsense)	not provided	GPathogenic
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 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 1238221	NM_001292034.3(TAB2):c.1440G>A (p.Val480=)	LOC126859827, TAB2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 1329629	NM_001292034.3(TAB2):c.1535C>G (p.Ala512Gly)	LOC126859827, TAB2 (A480G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 451419	NM_001292034.3(TAB2):c.1541T>C (p.Val514Ala)	LOC126859827, TAB2 (V514A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 500799	NM_001292034.3(TAB2):c.1561C>T (p.Arg521Trp)	LOC126859827, TAB2 (R521W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	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 1182181	NM_001292034.3(TAB2):c.1603+151G>A	TAB2, LOC126859827	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260032	NM_001292034.3(TAB2):c.1603+219A>T	LOC126859827, TAB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233843	NM_001292034.3(TAB2):c.1603+288C>G	TAB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1300648	NM_001292034.3(TAB2):c.1603+292T>C	TAB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1301240	NM_001292034.3(TAB2):c.1604-190C>T	TAB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1329829	NM_001292034.3(TAB2):c.1604-169_1604-168del	TAB2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1213198	NM_001292034.3(TAB2):c.1604-148dup	TAB2	Duplication (intron variant)	not provided	GLikely benign
Select item 1234655	NM_001292034.3(TAB2):c.1604-148del	TAB2	Deletion (intron variant)	not provided	GBenign
Select item 1239513	NM_001292034.3(TAB2):c.1604-90C>T	TAB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1708691	NM_001292034.3(TAB2):c.1647A>C (p.Arg549Ser)	TAB2 (R517S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1695814	NM_001292034.3(TAB2):c.1726C>T (p.Arg576Cys)	TAB2 (R544C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1308459	NM_001292034.3(TAB2):c.1751C>T (p.Ser584Phe)	TAB2 (S552F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1030404	NM_001292034.3(TAB2):c.1764+1G>A	TAB2	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2497770	NM_001292034.3(TAB2):c.1766T>A (p.Leu589His)	TAB2 (L557H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1712054	NM_001292034.3(TAB2):c.1809G>C (p.Gln603His)	TAB2 (Q571H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1181278	NM_001292034.3(TAB2):c.1858+202G>A	TAB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248441	NM_001292034.3(TAB2):c.1859-273A>T	TAB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1207094	NM_001292034.3(TAB2):c.1859-140A>G	TAB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1301095	NM_001292034.3(TAB2):c.1859-126G>C	TAB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1187805	NM_001292034.3(TAB2):c.1859-92C>A	TAB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1266723	NM_001292034.3(TAB2):c.1859-48T>A	TAB2	Single nucleotide variant (intron variant)	not provided	GBenign
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 2062	NM_001002255.2(SUMO4):c.163G>A (p.Val55Met)	SUMO4, TAB2 (V55M)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
Select item 1181973	NM_001292034.3(TAB2):c.1940-253G>A	TAB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2507282	NM_001292034.3(TAB2):c.2031C>A (p.Asn677Lys)	TAB2 (N645K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1241569	NM_001292034.3(TAB2):c.2073G>A (p.Arg691=)	TAB2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1301096	NM_001292034.3(TAB2):c.*286A>C	TAB2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
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

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Items: 94