TBX5[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 155465	GRCh38/hg38 12q24.13-24.21(chr12:113077775-114372366)x1	CFAP73, DDX54 +68 more	Copy number loss	See cases	GPathogenic
Select item 3046110	NC_000012.12:g.114266710G>T	LOC109280163, TBX5	Single nucleotide variant	TBX5-related disorder	GUncertain significance
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	LOC130009126, LOC130009127 +906 more	Copy number gain	See cases	GPathogenic
Select item 881175	NM_181486.4(TBX5):c.*1548C>T	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome	GUncertain significance
Select item 307266	NM_181486.4(TBX5):c.*1511G>A	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome	GUncertain significance
Select item 307267	NM_181486.4(TBX5):c.1477_1480del	TBX5	Deletion (3 prime UTR variant)	Holt-Oram syndrome	GLikely benign
Select item 307268	NM_181486.4(TBX5):c.*1446T>G	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome	GUncertain significance
Select item 307269	NM_181486.4(TBX5):c.*1385del	TBX5	Deletion (3 prime UTR variant)	Holt-Oram syndrome	GBenign
Select item 307270	NM_181486.4(TBX5):c.*1373G>T	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome	GBenign
Select item 881640	NM_181486.4(TBX5):c.*1344G>A	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome	GUncertain significance
Select item 307271	NM_181486.4(TBX5):c.*1331T>G	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome	GBenign
Select item 307272	NM_181486.4(TBX5):c.*1196T>C	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome	GUncertain significance
Select item 307273	NM_181486.4(TBX5):c.*1188T>C	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome	GBenign
Select item 307274	NM_181486.4(TBX5):c.*1111T>C	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome	GUncertain significance
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 882802	NM_181486.4(TBX5):c.*1071C>T	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome	GUncertain significance
Select item 307276	NM_181486.4(TBX5):c.*960A>G	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome	GBenign
Select item 307277	NM_181486.4(TBX5):c.*926T>C	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome	GUncertain significance
Select item 307278	NM_181486.4(TBX5):c.*909A>G	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome	GBenign
Select item 307279	NM_181486.4(TBX5):c.*875A>C	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome	GUncertain significance
Select item 307280	NM_181486.4(TBX5):c.*856T>A	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome	GUncertain significance
Select item 307281	NM_181486.4(TBX5):c.*852C>T	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome	GUncertain significance
Select item 883588	NM_181486.4(TBX5):c.*836A>C	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome	GLikely benign
Select item 307282	NM_181486.4(TBX5):c.*812C>T	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome +1 more	GBenign
Select item 307283	NM_181486.4(TBX5):c.*806C>G	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome	GUncertain significance
Select item 307284	NM_181486.4(TBX5):c.*795G>T	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome	GUncertain significance
Select item 307285	NM_181486.4(TBX5):c.755_759delinsGAATAAGATGCTGGGCTCTTATTCAGCTGG	TBX5	Indel (3 prime UTR variant)	Holt-Oram syndrome	GUncertain significance
Select item 307286	NM_181486.4(TBX5):c.*739T>C	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome +1 more	GBenign
Select item 307287	NM_181486.4(TBX5):c.*718G>A	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome	GUncertain significance
Select item 883589	NM_181486.4(TBX5):c.*717C>T	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome	GUncertain significance
Select item 307288	NM_181486.4(TBX5):c.*702T>C	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome	GUncertain significance
Select item 307289	NM_181486.4(TBX5):c.*673C>T	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome	GBenign
Select item 307290	NM_181486.4(TBX5):c.*601G>A	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome	GBenign
Select item 307291	NM_181486.4(TBX5):c.*563G>A	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome	GBenign
Select item 307292	NM_181486.4(TBX5):c.*545C>G	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome	GUncertain significance
Select item 307293	NM_181486.4(TBX5):c.*524A>T	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome	GBenign
Select item 307294	NM_181486.4(TBX5):c.*480G>A	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome	GBenign
Select item 881225	NM_181486.4(TBX5):c.*439T>A	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome	GUncertain significance
Select item 307295	NM_181486.4(TBX5):c.*384T>C	TBX5	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 307296	NM_181486.4(TBX5):c.*306C>T	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome	GBenign
Select item 307297	NM_181486.4(TBX5):c.*277C>T	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome	GUncertain significance
Select item 307298	NM_181486.4(TBX5):c.*147T>C	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome	GUncertain significance
Select item 307299	NM_181486.4(TBX5):c.*129A>G	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome	GUncertain significance
Select item 881692	NM_181486.4(TBX5):c.*121A>G	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome	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 307302	NM_181486.4(TBX5):c.*4G>T	TBX5	Single nucleotide variant (3 prime UTR variant)	Holt-Oram syndrome	GBenign
Select item 1774943	NM_181486.4(TBX5):c.1546G>A (p.Asp516Asn)	TBX5 (D466N +1 more)	Single nucleotide variant (missense variant)	Aortic valve disease 2 +1 more	GUncertain significance
Select item 1912049	NM_181486.4(TBX5):c.1545C>A (p.Ser515Arg)	TBX5 (S465R +1 more)	Single nucleotide variant (missense variant)	Aortic valve disease 2	GUncertain significance
Select item 416580	NM_181486.4(TBX5):c.1545C>T (p.Ser515=)	TBX5	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GBenign/Likely benign
Select item 2194350	NM_181486.4(TBX5):c.1544G>A (p.Ser515Asn)	TBX5 (S465N +1 more)	Single nucleotide variant (missense variant)	Aortic valve disease 2 +1 more	GUncertain significance
Select item 3230603	NM_181486.4(TBX5):c.1538A>C (p.Glu513Ala)	TBX5 (E463A +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1774751	NM_181486.4(TBX5):c.1538A>G (p.Glu513Gly)	TBX5 (E513G +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2134649	NM_181486.4(TBX5):c.1524T>C (p.Val508=)	TBX5	Single nucleotide variant (synonymous variant)	Aortic valve disease 2	GLikely benign
Select item 2625377	NM_181486.4(TBX5):c.1523T>C (p.Val508Ala)	TBX5 (V458A +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1774418	NM_181486.4(TBX5):c.1520G>A (p.Gly507Glu)	TBX5 (G457E +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1774373	NM_181486.4(TBX5):c.1519G>A (p.Gly507Arg)	TBX5 (G507R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2142752	NM_181486.4(TBX5):c.1518C>T (p.His506=)	TBX5	Single nucleotide variant (synonymous variant)	Aortic valve disease 2 +1 more	GLikely benign
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 3324887	NM_181486.4(TBX5):c.1495C>G (p.Pro499Ala)	TBX5 (P449A +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1485295	NM_181486.4(TBX5):c.1493C>A (p.Ser498Tyr)	TBX5 (S448Y +1 more)	Single nucleotide variant (missense variant)	Aortic valve disease 2	GLikely benign
Select item 1773722	NM_181486.4(TBX5):c.1488T>C (p.Thr496=)	TBX5	Single nucleotide variant (synonymous variant)	Aortic valve disease 2 +1 more	GLikely benign
Select item 3174979	NM_181486.4(TBX5):c.1486A>G (p.Thr496Ala)	TBX5 (T446A +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1773653	NM_181486.4(TBX5):c.1485del (p.Thr496fs)	TBX5 (T446fs +1 more)	Deletion (frameshift variant)	Aortic valve disease 2 +1 more	GLikely pathogenic
Select item 2625376	NM_181486.4(TBX5):c.1484G>A (p.Arg495Lys)	TBX5 (R445K +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 806953	NM_181486.4(TBX5):c.1477G>A (p.Val493Met)	TBX5 (V443M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 1773308	NM_181486.4(TBX5):c.1469C>T (p.Ser490Phe)	TBX5 (S490F +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3239603	NM_181486.4(TBX5):c.1454_1455del (p.Pro485fs)	TBX5 (P435fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1052046	NM_181486.4(TBX5):c.1451C>A (p.Pro484His)	TBX5 (P434H +1 more)	Single nucleotide variant (missense variant)	Aortic valve disease 2	GLikely benign
Select item 2863478	NM_181486.4(TBX5):c.1450C>T (p.Pro484Ser)	TBX5 (P484S +1 more)	Single nucleotide variant (missense variant)	Aortic valve disease 2	GUncertain significance
Select item 882840	NM_181486.4(TBX5):c.1449G>A (p.Gln483=)	TBX5	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 699759	NM_181486.4(TBX5):c.1443C>T (p.Thr481=)	TBX5	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1772727	NM_181486.4(TBX5):c.1442C>T (p.Thr481Ile)	TBX5 (T431I +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1678334	NM_181486.4(TBX5):c.1407_1441del (p.Gln469fs)	TBX5 (Q419fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1772694	NM_181486.4(TBX5):c.1440C>T (p.Gly480=)	TBX5	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3324881	NM_181486.4(TBX5):c.1439G>T (p.Gly480Val)	TBX5 (G430V +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2699573	NM_181486.4(TBX5):c.1430A>G (p.Gln477Arg)	TBX5 (Q427R +1 more)	Single nucleotide variant (missense variant)	Aortic valve disease 2	GUncertain significance
Select item 2020803	NM_181486.4(TBX5):c.1429C>T (p.Gln477Ter)	TBX5 (Q477* +1 more)	Single nucleotide variant (nonsense)	Aortic valve disease 2	GUncertain significance
Select item 1605488	NM_181486.4(TBX5):c.1425C>G (p.Gly475=)	TBX5	Single nucleotide variant (synonymous variant)	Aortic valve disease 2 +1 more	GBenign
Select item 3230602	NM_181486.4(TBX5):c.1421C>T (p.Thr474Ile)	TBX5 (T424I +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1140267	NM_181486.4(TBX5):c.1413G>A (p.Gly471=)	TBX5	Single nucleotide variant (synonymous variant)	Aortic valve disease 2 +1 more	GLikely benign
Select item 1771930	NM_181486.4(TBX5):c.1407G>C (p.Gln469His)	TBX5 (Q419H +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 1404558	NM_181486.4(TBX5):c.1396G>A (p.Val466Met)	TBX5 (V416M +1 more)	Single nucleotide variant (missense variant)	Aortic valve disease 2 +2 more	GUncertain significance
Select item 1771446	NM_181486.4(TBX5):c.1388A>C (p.His463Pro)	TBX5 (H463P +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3230601	NM_181486.4(TBX5):c.1386C>T (p.Ala462=)	TBX5	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	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 1578780	NM_181486.4(TBX5):c.1381G>A (p.Val461Met)	TBX5 (V411M +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 717947	NM_181486.4(TBX5):c.1380C>T (p.Ser460=)	TBX5	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 3324882	NM_181486.4(TBX5):c.1377C>T (p.Thr459=)	TBX5	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1771163	NM_181486.4(TBX5):c.1376C>A (p.Thr459Asn)	TBX5 (T409N +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 882841	NM_181486.4(TBX5):c.1362G>A (p.Met454Ile)	TBX5 (M404I +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1770849	NM_181486.4(TBX5):c.1361T>C (p.Met454Thr)	TBX5 (M454T +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1491365	NM_181486.4(TBX5):c.1348C>G (p.Leu450Val)	TBX5 (L450V +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 633737	NM_181486.4(TBX5):c.1346del (p.Gln449fs)	TBX5 (Q399fs +1 more)	Deletion (frameshift variant)	Holt-Oram syndrome	GPathogenic
Select item 1462926	NM_181486.4(TBX5):c.1343C>T (p.Pro448Leu)	TBX5 (P398L +1 more)	Single nucleotide variant (missense variant)	Aortic valve disease 2	GUncertain significance
Select item 2414032	NM_181486.4(TBX5):c.1332C>T (p.Asn444=)	TBX5	Single nucleotide variant (synonymous variant)	Aortic valve disease 2	GLikely benign
Select item 1770167	NM_181486.4(TBX5):c.1332C>A (p.Asn444Lys)	TBX5 (N394K +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance

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