ClinVar for Gene (Select 6910) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 condition	GUncertain significance
Select item 3046110	NC_000012.12:g.114266710G>T	LOC109280163, TBX5	Single nucleotide variant	TBX5-related condition	GUncertain significance
Select item 3037299	NM_181486.4(TBX5):c.427G>A (p.Ala143Thr)	TBX5 (A143T +1 more)	Single nucleotide variant (missense variant)	TBX5-related condition	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)	Aortic valve disease 2	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	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)	Aortic valve disease 2	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)	Aortic valve disease 2	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)	not provided +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 condition	GUncertain significance
Select item 2632419	NM_181486.4(TBX5):c.511-1G>A	TBX5	Single nucleotide variant (splice acceptor variant)	TBX5-related condition	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 condition	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)	Inborn genetic diseases	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
Select item 2575575	NM_181486.4(TBX5):c.436del (p.Ala146fs)	TBX5 (A146fs +1 more)	Deletion (frameshift 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 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 2573991	NM_181486.4(TBX5):c.694T>C (p.Phe232Leu)	TBX5 (F182L +1 more)	Single nucleotide variant (missense variant)	Holt-Oram syndrome	GPathogenic
Select item 2563134	NM_181486.4(TBX5):c.622G>A (p.Glu208Lys)	TBX5 (E158K +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2563133	NM_181486.4(TBX5):c.1295C>T (p.Ser432Leu)	TBX5 (S432L +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2563132	NM_181486.4(TBX5):c.874C>A (p.Gln292Lys)	TBX5 (Q242K +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2563131	NM_181486.4(TBX5):c.753A>G (p.Gln251=)	TBX5	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2563130	NM_181486.4(TBX5):c.231C>T (p.Thr77=)	TBX5	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2563129	NM_181486.4(TBX5):c.349G>T (p.Ala117Ser)	TBX5 (A67S +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2563128	NM_181486.4(TBX5):c.93G>C (p.Ala31=)	TBX5	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 2561579	NM_181486.4(TBX5):c.37A>T (p.Thr13Ser)	TBX5 (T13S)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
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 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 2503373	NM_181486.4(TBX5):c.148-1G>C	TBX5	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 2502300	NM_181486.4(TBX5):c.672del (p.Gln224fs)	TBX5 (Q174fs +1 more)	Deletion (frameshift variant)	Holt-Oram syndrome	GPathogenic
Select item 2496890	NM_181486.4(TBX5):c.150C>T (p.Gly50=)	TBX5	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 2474642	NM_181486.4(TBX5):c.563C>A (p.Ala188Glu)	TBX5 (A138E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474430	NM_181486.4(TBX5):c.446_465del (p.Met149fs)	TBX5 (M149fs +1 more)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2473851	NM_181486.4(TBX5):c.1270C>A (p.Gln424Lys)	TBX5 (Q424K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465686	NM_181486.4(TBX5):c.356A>G (p.Asn119Ser)	TBX5 (N119S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2448158	NM_181486.4(TBX5):c.510+3G>A	TBX5	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
Select item 2448157	NM_181486.4(TBX5):c.817C>T (p.Pro273Ser)	TBX5 (P273S +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2448156	NM_181486.4(TBX5):c.1045G>A (p.Glu349Lys)	TBX5 (E349K +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2448155	NM_181486.4(TBX5):c.609T>C (p.Thr203=)	TBX5	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2448154	NM_181486.4(TBX5):c.600G>A (p.Ala200=)	TBX5	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2448153	NM_181486.4(TBX5):c.1021C>G (p.Pro341Ala)	TBX5 (P341A +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2448152	NM_181486.4(TBX5):c.930A>G (p.Pro310=)	TBX5	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2448151	NM_181486.4(TBX5):c.629C>A (p.Ala210Glu)	TBX5 (A160E +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2444344	NM_181486.4(TBX5):c.261C>G (p.Tyr87Ter)	TBX5 (Y37* +1 more)	Single nucleotide variant (nonsense)	Holt-Oram syndrome	GLikely pathogenic
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 2422564	NC_000012.11:g.(?_114793337)_(114793931_?)dup	TBX5	Duplication	Aortic valve disease 2	GUncertain significance
Select item 2422563	NC_000012.11:g.(?_114803950)_(114804216_?)dup	TBX5	Duplication	Aortic valve disease 2	GPathogenic
Select item 2422562	NC_000012.11:g.(?_114793337)_(114837457_?)del	TBX5	Deletion	Aortic valve disease 2	GPathogenic
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 2321274	NM_181486.4(TBX5):c.1096G>A (p.Ala366Thr)	TBX5 (A366T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211234	NM_181486.4(TBX5):c.391A>G (p.Met131Val)	TBX5 (M131V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2194350	NM_181486.4(TBX5):c.1544G>A (p.Ser515Asn)	TBX5 (S465N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2194124	NM_181486.4(TBX5):c.736A>C (p.Arg246=)	TBX5	Single nucleotide variant (synonymous variant)	Aortic valve disease 2	GLikely benign

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