ClinVar for Gene (Select 6910) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3383759	NM_181486.4(TBX5):c.1140T>A (p.Tyr380Ter)	TBX5 (Y330* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3382822	NM_181486.4(TBX5):c.248T>G (p.Met83Arg)	TBX5 (M33R +1 more)	Single nucleotide variant (missense variant)	Holt-Oram syndrome	GUncertain significance
Select item 3382136	NM_181486.4(TBX5):c.242+1G>T	TBX5	Single nucleotide variant (splice donor variant)	Holt-Oram syndrome	GPathogenic
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 3345012	NM_181486.4(TBX5):c.546A>T (p.Arg182Ser)	TBX5 (R132S +1 more)	Single nucleotide variant (missense variant)	TBX5-related disorder	GUncertain significance
Select item 3344402	NM_181486.4(TBX5):c.269_275dup (p.Leu94fs)	TBX5 (L44fs +1 more)	Duplication (frameshift variant)	TBX5-related disorder	GPathogenic
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 3324886	NM_181486.4(TBX5):c.152T>C (p.Met51Thr)	TBX5 (M1T +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3324885	NM_181486.4(TBX5):c.156G>A (p.Glu52=)	TBX5	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3324884	NM_181486.4(TBX5):c.55G>A (p.Ala19Thr)	TBX5 (A19T)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3324883	NM_181486.4(TBX5):c.991T>G (p.Cys331Gly)	TBX5 (C281G +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3324882	NM_181486.4(TBX5):c.1377C>T (p.Thr459=)	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 3324880	NM_181486.4(TBX5):c.32C>A (p.Ala11Glu)	TBX5 (A11E)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3257577	NM_181486.4(TBX5):c.982+24A>G	TBX5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3254820	NM_181486.4(TBX5):c.243-1G>T	TBX5	Single nucleotide variant (splice acceptor variant)	Holt-Oram syndrome	GPathogenic
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 3244342	NC_000012.11:g.(?_114823261)_(114841703_?)dup	TBX5	Duplication	Aortic valve disease 2	GUncertain significance
Select item 3244320	NC_000012.11:g.(?_114793337)_(115121005_?)dup	TBX3, TBX5	Duplication	Aortic valve disease 2 +1 more	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 3236341	NM_181486.4(TBX5):c.464T>C (p.Phe155Ser)	TBX5 (F105S +1 more)	Single nucleotide variant (missense variant)	Holt-Oram syndrome	GUncertain significance
Select item 3230610	NM_181486.4(TBX5):c.847A>G (p.Thr283Ala)	TBX5 (T233A +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 3230609	NM_181486.4(TBX5):c.799G>A (p.Val267Met)	TBX5 (V217M +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3230608	NM_181486.4(TBX5):c.624G>C (p.Glu208Asp)	TBX5 (E158D +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3230607	NM_181486.4(TBX5):c.610C>G (p.His204Asp)	TBX5 (H154D +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3230606	NM_181486.4(TBX5):c.501A>G (p.Pro167=)	TBX5	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3230605	NM_181486.4(TBX5):c.177T>C (p.His59=)	TBX5	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3230604	NM_181486.4(TBX5):c.168G>A (p.Val56=)	TBX5	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
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 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 3230601	NM_181486.4(TBX5):c.1386C>T (p.Ala462=)	TBX5	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3230600	NM_181486.4(TBX5):c.1217C>G (p.Ser406Cys)	TBX5 (S356C +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3230599	NM_181486.4(TBX5):c.1184A>G (p.Asp395Gly)	TBX5 (D345G +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3230598	NM_181486.4(TBX5):c.1044T>C (p.Ser348=)	TBX5	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3230597	NM_181486.4(TBX5):c.1018A>G (p.Lys340Glu)	TBX5 (K290E +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3174981	NM_181486.4(TBX5):c.612C>A (p.His204Gln)	TBX5 (H204Q +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3174980	NM_181486.4(TBX5):c.197A>T (p.Lys66Ile)	TBX5 (K66I +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
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 3068626	NM_181486.4(TBX5):c.563C>T (p.Ala188Val)	TBX5 (A138V +1 more)	Single nucleotide variant (missense variant)	Holt-Oram syndrome	GUncertain significance
Select item 3051229	NM_181486.4(TBX5):c.506G>T (p.Gly169Val)	TBX5 (G119V +1 more)	Single nucleotide variant (missense variant)	TBX5-related disorder	GUncertain significance
Select item 3046110	NC_000012.12:g.114266710G>T	LOC109280163, TBX5	Single nucleotide variant	TBX5-related disorder	GUncertain significance
Select item 3037299	NM_181486.4(TBX5):c.427G>A (p.Ala143Thr)	TBX5 (A143T +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 3025607	NM_181486.4(TBX5):c.51T>C (p.Pro17=)	TBX5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3007608	NM_181486.4(TBX5):c.246G>T (p.Arg82=)	TBX5	Single nucleotide variant (synonymous variant)	Aortic valve disease 2	GLikely benign
Select item 3002944	NM_181486.4(TBX5):c.362+13G>T	TBX5	Single nucleotide variant (intron variant)	Aortic valve disease 2	GLikely benign
Select item 2989445	NM_181486.4(TBX5):c.462C>A (p.Ser154=)	TBX5	Single nucleotide variant (synonymous variant)	Aortic valve disease 2	GBenign
Select item 2973636	NM_181486.4(TBX5):c.663+6C>G	TBX5	Single nucleotide variant (intron variant)	Aortic valve disease 2	GUncertain significance
Select item 2959546	NM_181486.4(TBX5):c.1114T>A (p.Ser372Thr)	TBX5 (S322T +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2957968	NM_181486.4(TBX5):c.730C>T (p.Leu244=)	TBX5	Single nucleotide variant (synonymous variant)	Aortic valve disease 2	GLikely benign
Select item 2914253	NM_181486.4(TBX5):c.158G>A (p.Gly53Glu)	TBX5 (G53E +1 more)	Single nucleotide variant (missense variant)	Aortic valve disease 2 +1 more	GUncertain significance
Select item 2907894	NM_181486.4(TBX5):c.90C>A (p.Ser30Arg)	TBX5 (S30R)	Single nucleotide variant (missense variant +1 more)	Aortic valve disease 2	GUncertain significance
Select item 2903077	NM_181486.4(TBX5):c.242+18G>A	TBX5	Single nucleotide variant (intron variant)	Aortic valve disease 2	GLikely benign
Select item 2902283	NM_181486.4(TBX5):c.479T>C (p.Leu160Pro)	TBX5 (L110P +1 more)	Single nucleotide variant (missense variant)	Aortic valve disease 2	GUncertain significance
Select item 2899856	NM_181486.4(TBX5):c.422C>G (p.Ser141Cys)	TBX5 (S91C +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2898515	NM_181486.4(TBX5):c.147+13C>G	TBX5	Single nucleotide variant (intron variant)	Aortic valve disease 2	GLikely benign
Select item 2895839	NM_181486.4(TBX5):c.492C>G (p.His164Gln)	TBX5 (H114Q +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2893613	NM_181486.4(TBX5):c.1010C>A (p.Pro337His)	TBX5 (P287H +1 more)	Single nucleotide variant (missense variant)	Aortic valve disease 2	GUncertain significance
Select item 2888714	NM_181486.4(TBX5):c.408C>T (p.Tyr136=)	TBX5	Single nucleotide variant (synonymous variant)	Aortic valve disease 2	GLikely benign
Select item 2877857	NM_181486.4(TBX5):c.983-13C>T	TBX5	Single nucleotide variant (intron 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 2838058	NM_181486.4(TBX5):c.1140T>G (p.Tyr380Ter)	TBX5 (Y380* +1 more)	Single nucleotide variant (nonsense)	Aortic valve disease 2	GUncertain significance
Select item 2825206	NM_181486.4(TBX5):c.217G>C (p.Glu73Gln)	TBX5 (E23Q +1 more)	Single nucleotide variant (missense variant)	Aortic valve disease 2	GLikely pathogenic
Select item 2824603	NM_181486.4(TBX5):c.242G>A (p.Arg81Lys)	TBX5 (R81K +1 more)	Single nucleotide variant (missense variant)	Aortic valve disease 2	GUncertain significance
Select item 2814132	NM_181486.4(TBX5):c.731T>C (p.Leu244Pro)	TBX5 (L244P +1 more)	Single nucleotide variant (missense variant)	Aortic valve disease 2	GUncertain significance
Select item 2814008	NM_181486.4(TBX5):c.628_645del (p.Ala210_Thr215del)	TBX5	Deletion (inframe_deletion)	Aortic valve disease 2	GUncertain significance
Select item 2811976	NM_181486.4(TBX5):c.1039C>T (p.Pro347Ser)	TBX5 (P297S +1 more)	Single nucleotide variant (missense variant)	Aortic valve disease 2	GUncertain significance
Select item 2810024	NM_181486.4(TBX5):c.529C>T (p.His177Tyr)	TBX5 (H177Y +1 more)	Single nucleotide variant (missense variant)	Aortic valve disease 2	GUncertain significance
Select item 2789317	NM_181486.4(TBX5):c.1027A>G (p.Met343Val)	TBX5 (M343V +1 more)	Single nucleotide variant (missense variant)	Aortic valve disease 2	GUncertain significance
Select item 2773267	NM_181486.4(TBX5):c.511-1del	TBX5	Deletion (splice acceptor variant)	Aortic valve disease 2	GLikely pathogenic
Select item 2761756	NM_181486.4(TBX5):c.29T>G (p.Leu10Arg)	TBX5 (L10R)	Single nucleotide variant (missense variant +1 more)	Aortic valve disease 2	GUncertain significance
Select item 2761159	NM_181486.4(TBX5):c.717T>C (p.Ser239=)	TBX5	Single nucleotide variant (synonymous variant)	Aortic valve disease 2	GLikely benign
Select item 2754742	NM_181486.4(TBX5):c.482C>T (p.Thr161Ile)	TBX5 (T161I +1 more)	Single nucleotide variant (missense variant)	Aortic valve disease 2	GUncertain significance
Select item 2748244	NM_181486.4(TBX5):c.862G>A (p.Gly288Arg)	TBX5 (G288R +1 more)	Single nucleotide variant (missense variant)	Aortic valve disease 2	GUncertain significance
Select item 2735980	NM_181486.4(TBX5):c.100dup (p.Ala34fs)	TBX5 (A34fs)	Duplication (frameshift variant +1 more)	Aortic valve disease 2	GPathogenic
Select item 2730458	NM_181486.4(TBX5):c.116del (p.Pro39fs)	TBX5 (P39fs)	Deletion (frameshift variant +1 more)	Aortic valve disease 2	GPathogenic
Select item 2725383	NM_181486.4(TBX5):c.242+15T>C	TBX5	Single nucleotide variant (intron variant)	Aortic valve disease 2	GLikely benign
Select item 2724912	NM_181486.4(TBX5):c.1203G>T (p.Trp401Cys)	TBX5 (W351C +1 more)	Single nucleotide variant (missense variant)	Aortic valve disease 2	GUncertain significance
Select item 2715603	NM_181486.4(TBX5):c.1166C>A (p.Pro389His)	TBX5 (P389H +1 more)	Single nucleotide variant (missense variant)	Aortic valve disease 2	GUncertain significance
Select item 2712245	NM_181486.4(TBX5):c.920del (p.Pro307fs)	TBX5 (P307fs +1 more)	Deletion (frameshift variant)	Aortic valve disease 2	GPathogenic
Select item 2710024	NM_181486.4(TBX5):c.401G>T (p.Arg134Leu)	TBX5 (R84L +1 more)	Single nucleotide variant (missense variant)	Aortic valve disease 2	GUncertain significance
Select item 2708191	NM_181486.4(TBX5):c.884del (p.Asn295fs)	TBX5 (N245fs +1 more)	Deletion (frameshift variant)	Aortic valve disease 2	GPathogenic
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 2697016	NM_181486.4(TBX5):c.594dup (p.Thr199fs)	TBX5 (T149fs +1 more)	Duplication (frameshift variant)	Aortic valve disease 2	GPathogenic
Select item 2696255	NM_181486.4(TBX5):c.1077A>G (p.Pro359=)	TBX5	Single nucleotide variant (synonymous variant)	Aortic valve disease 2	GLikely benign
Select item 2691618	NM_181486.4(TBX5):c.529del (p.His177fs)	TBX5 (H127fs +1 more)	Deletion (frameshift variant)	Holt-Oram syndrome	GPathogenic
Select item 2643355	NM_181486.4(TBX5):c.982+14C>T	TBX5	Single nucleotide variant (intron variant)	Aortic valve disease 2 +1 more	GLikely benign
Select item 2632774	NM_181486.4(TBX5):c.382G>A (p.Glu128Lys)	TBX5 (E128K +1 more)	Single nucleotide variant (missense variant)	TBX5-related disorder	GUncertain significance
Select item 2632419	NM_181486.4(TBX5):c.511-1G>A	TBX5	Single nucleotide variant (splice acceptor variant)	TBX5-related disorder	GLikely pathogenic
Select item 2631755	NM_181486.4(TBX5):c.401G>A (p.Arg134His)	TBX5 (R134H +1 more)	Single nucleotide variant (missense variant)	TBX5-related disorder	GUncertain significance
Select item 2625378	NM_181486.4(TBX5):c.811C>A (p.His271Asn)	TBX5 (H221N +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
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 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 2621193	NM_181486.4(TBX5):c.1228T>C (p.Cys410Arg)	TBX5 (C360R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2614837	NM_181486.4(TBX5):c.386C>T (p.Pro129Leu)	TBX5 (P129L +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2579690	NM_181486.4(TBX5):c.362G>T (p.Trp121Leu)	TBX5 (W121L +1 more)	Single nucleotide variant (missense variant)	Holt-Oram syndrome	GLikely pathogenic
Select item 2579689	NM_181486.4(TBX5):c.353A>G (p.Asp118Gly)	TBX5 (D118G +1 more)	Single nucleotide variant (missense variant)	Holt-Oram syndrome	GPathogenic
Select item 2579688	NM_181486.4(TBX5):c.242G>T (p.Arg81Met)	TBX5 (R31M +1 more)	Single nucleotide variant (missense variant)	Holt-Oram syndrome	GUncertain significance
Select item 2579687	NM_181486.4(TBX5):c.664-342G>T	TBX5	Single nucleotide variant (intron variant)	Holt-Oram syndrome	GLikely pathogenic
Select item 2575756	NM_181486.4(TBX5):c.873C>A (p.Tyr291Ter)	TBX5 (Y241* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic

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