"GeneDx"[submitter] AND "TBX5"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 307275	NM_181486.4(TBX5):c.*1101A>G	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome +1 more	GBenign
Select item 307300	NM_181486.4(TBX5):c.*97G>A	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome +1 more	GBenign
Select item 307301	NM_181486.4(TBX5):c.*77A>G	TBX5	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 255489	NM_181486.4(TBX5):c.*40A>G	TBX5	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 2507337	NM_181486.4(TBX5):c.1507C>T (p.His503Tyr)	TBX5 (H453Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 696773	NM_181486.4(TBX5):c.1476C>T (p.Gly492=)	TBX5	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1708635	NM_181486.4(TBX5):c.1384G>T (p.Ala462Ser)	TBX5 (A412S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 255491	NM_181486.4(TBX5):c.1281C>T (p.Ser427=)	TBX5	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 495729	NM_181486.4(TBX5):c.1234G>A (p.Val412Ile)	TBX5 (V412I +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 422574	NM_181486.4(TBX5):c.1158del (p.Ser387fs)	TBX5 (S387fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 213821	NM_181486.4(TBX5):c.1126C>T (p.Gln376Ter)	TBX5 (Q376* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GLikely pathogenic
Select item 837719	NM_181486.4(TBX5):c.1124G>A (p.Arg375Gln)	TBX5 (R325Q +1 more)	Single nucleotide variant (missense variant)	Aortic valve disease 2 +2 more	GUncertain significance
Select item 817157	NM_181486.4(TBX5):c.1115_1116dup (p.Ala373fs)	TBX5 (A323fs +1 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 477655	NM_181486.4(TBX5):c.1115C>T (p.Ser372Leu)	TBX5 (S372L +1 more)	Single nucleotide variant (missense variant)	Holt-Oram syndrome +3 more	GConflicting classifications of pathogenicity
Select item 419717	NM_181486.4(TBX5):c.1078C>T (p.Gln360Ter)	TBX5 (Q360* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1258704	NM_181486.4(TBX5):c.983-146A>C	TBX5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281136	NM_181486.4(TBX5):c.983-292A>G	TBX5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282955	NM_181486.4(TBX5):c.982+320dup	TBX5	Duplication (intron variant)	not provided	GBenign
Select item 1181932	NM_181486.4(TBX5):c.982+320_982+321dup	TBX5	Duplication (intron variant)	not provided	GBenign
Select item 1268426	NM_181486.4(TBX5):c.982+329_982+335del	TBX5	Deletion (intron variant)	not provided	GBenign
Select item 1236285	NM_181486.4(TBX5):c.982+335del	TBX5	Deletion (intron variant)	not provided	GBenign
Select item 255494	NM_181486.4(TBX5):c.982+16C>T	TBX5	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 3252997	NM_181486.4(TBX5):c.910C>T (p.Leu304Phe)	TBX5 (L254F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2442466	NM_181486.4(TBX5):c.880G>T (p.Glu294Ter)	TBX5 (E244* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2575756	NM_181486.4(TBX5):c.873C>A (p.Tyr291Ter)	TBX5 (Y241* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 264163	NM_181486.4(TBX5):c.836G>A (p.Arg279Gln)	TBX5 (R279Q +1 more)	Single nucleotide variant (missense variant)	Aortic valve disease 2 +3 more	GLikely benign
Select item 213832	NM_181486.4(TBX5):c.835C>T (p.Arg279Ter)	TBX5 (R279* +1 more)	Single nucleotide variant (nonsense)	Aortic valve disease 2 +2 more	GPathogenic
Select item 495730	NM_181486.4(TBX5):c.827G>A (p.Ser276Asn)	TBX5 (S276N +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 519262	NM_181486.4(TBX5):c.804C>G (p.Ala268=)	TBX5	Single nucleotide variant (synonymous variant)	Aortic valve disease 2 +4 more	GBenign/Likely benign
Select item 198693	NM_181486.4(TBX5):c.787G>A (p.Val263Met)	TBX5 (V263M +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 289698	NM_181486.4(TBX5):c.786C>T (p.Thr262=)	TBX5	Single nucleotide variant (synonymous variant)	Aortic valve disease 2 +4 more	GBenign/Likely benign
Select item 1235903	NM_181486.4(TBX5):c.755+94C>A	TBX5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 265264	NM_181486.4(TBX5):c.755G>C (p.Ser252Thr)	TBX5 (S252T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 213819	NM_181486.4(TBX5):c.755G>A (p.Ser252Asn)	TBX5 (S252N +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 372783	NM_181486.4(TBX5):c.710G>C (p.Arg237Pro)	TBX5 (R237P +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 7993	NM_181486.4(TBX5):c.710G>A (p.Arg237Gln)	TBX5 (R237Q +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GPathogenic/Likely pathogenic
Select item 430377	NM_181486.4(TBX5):c.676A>G (p.Lys226Glu)	TBX5 (K226E +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 372527	NM_181486.4(TBX5):c.670C>T (p.Gln224Ter)	TBX5 (Q224* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 449105	NM_181486.4(TBX5):c.668C>T (p.Thr223Met)	TBX5 (T223M +1 more)	Single nucleotide variant (missense variant)	Aortic valve disease 2 +2 more	GPathogenic
Select item 1251463	NM_181486.4(TBX5):c.664-161T>C	TBX5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288662	NM_181486.4(TBX5):c.664-287_664-286dup	TBX5	Duplication (intron variant)	not provided	GBenign
Select item 1253011	NM_181486.4(TBX5):c.664-287dup	TBX5	Duplication (intron variant)	not provided	GBenign
Select item 1186237	NM_181486.4(TBX5):c.664-274del	TBX5	Deletion (intron variant)	not provided	GLikely benign
Select item 1250151	NM_181486.4(TBX5):c.663+186A>G	TBX5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 139592	NM_181486.4(TBX5):c.663+36G>T	TBX5	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 255492	NM_181486.4(TBX5):c.663+34C>T	TBX5	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 3373168	NM_181486.4(TBX5):c.629C>T (p.Ala210Val)	TBX5 (A160V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366036	NM_181486.4(TBX5):c.628G>C (p.Ala210Pro)	TBX5 (A160P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 213830	NM_181486.4(TBX5):c.611dup (p.His204fs)	TBX5 (H204fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 488731	NM_181486.4(TBX5):c.587C>G (p.Ser196Ter)	TBX5 (S196* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 279906	NM_181486.4(TBX5):c.587C>A (p.Ser196Ter)	TBX5 (S196* +1 more)	Single nucleotide variant (nonsense)	Holt-Oram syndrome +3 more	GPathogenic
Select item 2574382	NM_181486.4(TBX5):c.506G>A (p.Gly169Glu)	TBX5 (G119E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 855676	NM_181486.4(TBX5):c.484A>G (p.Asn162Asp)	TBX5 (N112D +1 more)	Single nucleotide variant (missense variant)	Aortic valve disease 2 +1 more	GConflicting classifications of pathogenicity
Select item 213829	NM_181486.4(TBX5):c.468_484del (p.Lys157fs)	TBX5 (K107fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 503839	NM_181486.4(TBX5):c.473_476del (p.Leu158fs)	TBX5 (L108fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 280392	NM_181486.4(TBX5):c.466del (p.Gln156fs)	TBX5 (Q106fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 213828	NM_181486.4(TBX5):c.421_443delinsCCAGGA (p.Ser141fs)	TBX5 (S141fs +1 more)	Indel (frameshift variant)	not provided	GPathogenic
Select item 2575575	NM_181486.4(TBX5):c.436del (p.Ala146fs)	TBX5 (A146fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1325934	NM_181486.4(TBX5):c.433G>A (p.Gly145Arg)	TBX5 (G145R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 213827	NM_181486.4(TBX5):c.420_432del (p.Asp140fs)	TBX5 (D140fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 620372	NM_181486.4(TBX5):c.408C>G (p.Tyr136Ter)	TBX5 (Y136* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 213826	NM_181486.4(TBX5):c.376_402del (p.Lys126_Arg134del)	TBX5	Deletion (inframe_deletion)	not provided	GLikely pathogenic
Select item 213816	NM_181486.4(TBX5):c.373G>C (p.Gly125Arg)	TBX5 (G125R +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1188068	NM_181486.4(TBX5):c.363-82G>A	TBX5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200339	NM_181486.4(TBX5):c.362+233C>T	TBX5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1288922	NM_181486.4(TBX5):c.362+84dup	TBX5	Duplication (intron variant)	not provided	GBenign
Select item 1202177	NM_181486.4(TBX5):c.362+84_362+86dup	TBX5	Duplication (intron variant)	not provided	GLikely benign
Select item 1265247	NM_181486.4(TBX5):c.362+98del	TBX5	Deletion (intron variant)	not provided	GBenign
Select item 1208145	NM_181486.4(TBX5):c.362+97_362+98del	TBX5	Deletion (intron variant)	not provided	GLikely benign
Select item 213813	NM_181486.4(TBX5):c.331G>T (p.Asp111Tyr)	TBX5 (D111Y +1 more)	Single nucleotide variant (missense variant)	Aortic valve disease 2 +4 more	GBenign/Likely benign
Select item 452157	NM_181486.4(TBX5):c.300del (p.Lys99_Tyr100insTer)	TBX5	Deletion (nonsense)	not provided	GPathogenic
Select item 1803586	NM_181486.4(TBX5):c.295A>G (p.Lys99Glu)	TBX5 (K49E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 429568	NM_181486.4(TBX5):c.250T>C (p.Phe84Leu)	TBX5 (F84L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1294261	NM_181486.4(TBX5):c.244C>A (p.Arg82=)	TBX5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1287833	NM_181486.4(TBX5):c.243-284T>C	TBX5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275672	NM_181486.4(TBX5):c.243-324C>T	TBX5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 633721	NM_181486.4(TBX5):c.242+5G>A	TBX5	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 1193170	NM_181486.4(TBX5):c.242+1G>A	TBX5	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 861408	NM_181486.4(TBX5):c.239G>A (p.Gly80Glu)	TBX5 (G80E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 7992	NM_181486.4(TBX5):c.205G>T (p.Glu69Ter)	TBX5 (E69* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 373079	NM_181486.4(TBX5):c.202del (p.His68fs)	TBX5 (H68fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2505604	NM_181486.4(TBX5):c.194T>C (p.Leu65Pro)	TBX5 (L15P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 504156	NM_181486.4(TBX5):c.188del (p.Leu63fs)	TBX5 (L13fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 419668	NM_181486.4(TBX5):c.178G>T (p.Glu60Ter)	TBX5 (E60* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 452461	NM_181486.4(TBX5):c.164_165del (p.Lys55fs)	TBX5 (K55fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2503373	NM_181486.4(TBX5):c.148-1G>C	TBX5	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 633762	NM_181486.4(TBX5):c.148-2A>G	TBX5	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 2574518	NM_181486.4(TBX5):c.148-3C>A	TBX5	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1259876	NM_181486.4(TBX5):c.148-19T>A	TBX5	Single nucleotide variant (intron variant)	Aortic valve disease 2 +2 more	GBenign
Select item 1234121	NM_181486.4(TBX5):c.148-206A>C	TBX5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1213285	NM_181486.4(TBX5):c.148-231G>T	TBX5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1183596	NM_181486.4(TBX5):c.147+194G>A	TBX5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 213820	NM_181486.4(TBX5):c.142C>T (p.Gln48Ter)	TBX5 (Q48*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 195034	NM_181486.4(TBX5):c.114C>T (p.Ser38=)	TBX5	Single nucleotide variant (synonymous variant +1 more)	Aortic valve disease 2 +4 more	GBenign/Likely benign
Select item 1305626	NM_181486.4(TBX5):c.101C>A (p.Ala34Asp)	TBX5 (A34D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 426901	NM_181486.4(TBX5):c.77C>T (p.Ser26Leu)	TBX5 (S26L)	Single nucleotide variant (missense variant +1 more)	Holt-Oram syndrome +1 more	GUncertain significance
Select item 1208324	NM_181486.4(TBX5):c.-38-211T>C	TBX5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196476	NM_181486.4(TBX5):c.-38-237G>T	TBX5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1276908	NM_181486.4(TBX5):c.-38-255T>C	TBX5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231669	NM_000192.3(TBX5):c.-39+113A>G	TBX5	Single nucleotide variant (intron variant)	not provided	GBenign

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