"Ambry Genetics"[submitter] AND "TBX1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 389277	NM_080647.1(TBX1):c.-3G>A	TBX1	Single nucleotide variant (5 prime UTR variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2501643	NM_080647.1(TBX1):c.14C>T (p.Thr5Ile)	TBX1 (T5I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 706401	NM_080647.1(TBX1):c.15C>T (p.Thr5=)	TBX1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1782263	NM_080647.1(TBX1):c.18C>G (p.Val6=)	TBX1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1794892	NM_080647.1(TBX1):c.26A>T (p.Asp9Val)	TBX1 (D9V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1554832	NM_001379200.1(TBX1):c.69G>C (p.Thr23=)	TBX1	Single nucleotide variant (synonymous variant)	DiGeorge syndrome +1 more	GLikely benign
Select item 1376995	NM_001379200.1(TBX1):c.70G>A (p.Ala24Thr)	TBX1 (A15T +1 more)	Single nucleotide variant (missense variant)	DiGeorge syndrome +1 more	GUncertain significance
Select item 1744656	NM_001379200.1(TBX1):c.76A>G (p.Ser26Gly)	TBX1 (S26G +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1746012	NM_001379200.1(TBX1):c.78C>G (p.Ser26Arg)	TBX1 (S17R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1748541	NM_001379200.1(TBX1):c.82A>C (p.Ser28Arg)	TBX1 (S19R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1749162	NM_001379200.1(TBX1):c.83G>T (p.Ser28Ile)	TBX1 (S28I +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1750373	NM_001379200.1(TBX1):c.85A>G (p.Ser29Gly)	TBX1 (S29G +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1751591	NM_001379200.1(TBX1):c.87C>G (p.Ser29Arg)	TBX1 (S29R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 707121	NM_001379200.1(TBX1):c.90G>T (p.Leu30=)	TBX1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 2447900	NM_001379200.1(TBX1):c.93G>T (p.Gly31=)	TBX1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2475551	NM_001379200.1(TBX1):c.96C>G (p.Ala32=)	TBX1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 770091	NM_001379200.1(TBX1):c.96C>T (p.Ala32=)	TBX1	Single nucleotide variant (synonymous variant)	DiGeorge syndrome +2 more	GLikely benign
Select item 1757649	NM_001379200.1(TBX1):c.98C>T (p.Ala33Val)	TBX1 (A24V +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1758722	NM_001379200.1(TBX1):c.100G>A (p.Gly34Arg)	TBX1 (G25R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1759209	NM_001379200.1(TBX1):c.101G>A (p.Gly34Glu)	TBX1 (G25E +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1759734	NM_001379200.1(TBX1):c.102G>A (p.Gly34=)	TBX1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 520394	NM_001379200.1(TBX1):c.102G>T (p.Gly34=)	TBX1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 518821	NM_001379200.1(TBX1):c.105C>G (p.Gly35=)	TBX1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1585381	NM_001379200.1(TBX1):c.108C>T (p.Phe36=)	TBX1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1710695	NM_001379200.1(TBX1):c.110C>T (p.Pro37Leu)	TBX1 (P28L +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1764715	NM_001379200.1(TBX1):c.114C>T (p.Gly38=)	TBX1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2562907	NM_001379200.1(TBX1):c.115G>T (p.Ala39Ser)	TBX1 (A39S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1429095	NM_001379200.1(TBX1):c.119C>T (p.Ala40Val)	TBX1 (A31V +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1767186	NM_001379200.1(TBX1):c.121T>G (p.Ser41Ala)	TBX1 (S32A +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1767184	NM_001379200.1(TBX1):c.121T>C (p.Ser41Pro)	TBX1 (S32P +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1768878	NM_001379200.1(TBX1):c.126C>G (p.Pro42=)	TBX1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1779745	NM_001379200.1(TBX1):c.132C>G (p.Ala44=)	TBX1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1785838	NM_001379200.1(TBX1):c.134A>C (p.Asp45Ala)	TBX1 (D45A +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1797314	NM_001379200.1(TBX1):c.138G>A (p.Pro46=)	TBX1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1744480	NM_001379200.1(TBX1):c.145C>G (p.Pro49Ala)	TBX1 (P40A +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2447903	NM_001379200.1(TBX1):c.152A>C (p.Glu51Ala)	TBX1 (E42A +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 263404	NM_001379200.1(TBX1):c.158CGC[6] (p.Pro57dup)	TBX1	Microsatellite (inframe_insertion)	DiGeorge syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1772677	NM_001379200.1(TBX1):c.170C>G (p.Pro57Arg)	TBX1 (P57R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1772900	NM_001379200.1(TBX1):c.171G>A (p.Pro57=)	TBX1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3174918	NM_001379200.1(TBX1):c.173G>A (p.Arg58His)	TBX1 (R58H +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3174919	NM_001379200.1(TBX1):c.180C>G (p.Asp60Glu)	TBX1 (D51E +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1641075	NM_001379200.1(TBX1):c.183G>T (p.Pro61=)	TBX1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 3174920	NM_001379200.1(TBX1):c.187G>T (p.Ala63Ser)	TBX1 (A54S +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1776782	NM_001379200.1(TBX1):c.189C>G (p.Ala63=)	TBX1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2447905	NM_001379200.1(TBX1):c.190G>C (p.Ala64Pro)	TBX1 (A64P +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3228966	NM_001379200.1(TBX1):c.195C>T (p.Ala65=)	TBX1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1778098	NM_001379200.1(TBX1):c.195C>G (p.Ala65=)	TBX1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1778316	NM_001379200.1(TBX1):c.196G>T (p.Ala66Ser)	TBX1 (A57S +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1161950	NM_001379200.1(TBX1):c.198C>T (p.Ala66=)	TBX1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1779158	NM_001379200.1(TBX1):c.200C>A (p.Pro67His)	TBX1 (P58H +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1349976	NM_001379200.1(TBX1):c.200C>T (p.Pro67Leu)	TBX1 (P58L +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 772308	NM_001379200.1(TBX1):c.201C>G (p.Pro67=)	TBX1	Single nucleotide variant (synonymous variant)	DiGeorge syndrome +1 more	GLikely benign
Select item 1779553	NM_001379200.1(TBX1):c.202G>A (p.Gly68Ser)	TBX1 (G68S +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3228967	NM_001379200.1(TBX1):c.204C>T (p.Gly68=)	TBX1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1780543	NM_001379200.1(TBX1):c.207C>T (p.Ala69=)	TBX1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1780735	NM_001379200.1(TBX1):c.208C>T (p.Pro70Ser)	TBX1 (P61S +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1780916	NM_001379200.1(TBX1):c.209C>T (p.Pro70Leu)	TBX1 (P61L +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 704603	NM_001379200.1(TBX1):c.215CGC[6] (p.Pro76dup)	TBX1	Microsatellite (inframe_insertion)	TBX1-related condition +3 more	GBenign/Likely benign
Select item 2151584	NM_001379200.1(TBX1):c.215CGC[4] (p.Pro76del)	TBX1 (P67del +1 more)	Microsatellite (inframe_deletion)	DiGeorge syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1782040	NM_001379200.1(TBX1):c.215C>T (p.Pro72Leu)	TBX1 (P63L +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1782631	NM_001379200.1(TBX1):c.218C>G (p.Pro73Arg)	TBX1 (P64R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1783189	NM_001379200.1(TBX1):c.221C>G (p.Pro74Arg)	TBX1 (P65R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1784127	NM_001379200.1(TBX1):c.226C>G (p.Pro76Ala)	TBX1 (P67A +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1784862	NM_001379200.1(TBX1):c.230A>C (p.His77Pro)	TBX1 (H68P +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 506425	NM_001379200.1(TBX1):c.232G>A (p.Ala78Thr)	TBX1 (A69T +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1785348	NM_001379200.1(TBX1):c.233C>T (p.Ala78Val)	TBX1 (A69V +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1785346	NM_001379200.1(TBX1):c.233C>G (p.Ala78Gly)	TBX1 (A69G +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1785523	NM_001379200.1(TBX1):c.234C>G (p.Ala78=)	TBX1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 518862	NM_001379200.1(TBX1):c.238C>G (p.Pro80Ala)	TBX1 (P71A +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2447908	NM_001379200.1(TBX1):c.240G>T (p.Pro80=)	TBX1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1787072	NM_001379200.1(TBX1):c.243T>C (p.Phe81=)	TBX1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1787556	NM_001379200.1(TBX1):c.246G>A (p.Ala82=)	TBX1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3228968	NM_001379200.1(TBX1):c.255C>G (p.Ala85=)	TBX1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1789071	NM_001379200.1(TBX1):c.255C>T (p.Ala85=)	TBX1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1790134	NM_001379200.1(TBX1):c.262G>A (p.Ala88Thr)	TBX1 (A79T +1 more)	Single nucleotide variant (missense variant)	DiGeorge syndrome +1 more	GUncertain significance
Select item 1791291	NM_001379200.1(TBX1):c.270C>T (p.Ser90=)	TBX1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1157626	NM_001379200.1(TBX1):c.273C>T (p.Ala91=)	TBX1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1570107	NM_001379200.1(TBX1):c.279C>T (p.Ala93=)	TBX1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1794656	NM_001379200.1(TBX1):c.294C>T (p.Pro98=)	TBX1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1795403	NM_001379200.1(TBX1):c.300C>T (p.Ala100=)	TBX1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1795521	NM_001379200.1(TBX1):c.301A>G (p.Ser101Gly)	TBX1 (S101G +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1796810	NM_001379200.1(TBX1):c.311C>T (p.Ala104Val)	TBX1 (A95V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1797260	NM_001379200.1(TBX1):c.315A>C (p.Ala105=)	TBX1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1798258	NM_001379200.1(TBX1):c.323C>A (p.Ala108Glu)	TBX1 (A99E +1 more)	Single nucleotide variant (missense variant)	DiGeorge syndrome +1 more	GUncertain significance
Select item 1798391	NM_001379200.1(TBX1):c.324G>T (p.Ala108=)	TBX1	Single nucleotide variant (synonymous variant)	DiGeorge syndrome +2 more	GLikely benign
Select item 263555	NM_001379200.1(TBX1):c.324G>A (p.Ala108=)	TBX1	Single nucleotide variant (synonymous variant)	TBX1-related condition +3 more	GBenign
Select item 455791	NM_001379200.1(TBX1):c.330GAA[2] (p.Lys112del)	TBX1 (K103del +1 more)	Microsatellite (inframe_deletion)	TBX1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 1728162	NM_001379200.1(TBX1):c.341C>A (p.Ala114Glu)	TBX1 (A105E +1 more)	Single nucleotide variant (missense variant)	DiGeorge syndrome +2 more	GUncertain significance
Select item 626178	NM_001379200.1(TBX1):c.351C>T (p.Ala117=)	TBX1	Single nucleotide variant (synonymous variant)	Tetralogy of Fallot +4 more	GConflicting classifications of pathogenicity
Select item 2496831	NM_001379200.1(TBX1):c.352G>A (p.Gly118Ser)	TBX1 (G109S +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 3228969	NM_001379200.1(TBX1):c.354T>A (p.Gly118=)	TBX1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2496832	NM_001379200.1(TBX1):c.354T>C (p.Gly118=)	TBX1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1730502	NM_001379200.1(TBX1):c.361G>A (p.Val121Met)	TBX1 (V112M +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 772620	NM_001379200.1(TBX1):c.369A>G (p.Leu123=)	TBX1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1731461	NM_001379200.1(TBX1):c.370G>C (p.Glu124Gln)	TBX1 (E115Q +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 3174921	NM_001379200.1(TBX1):c.391G>C (p.Glu131Gln)	TBX1 (E122Q +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1584309	NM_001379200.1(TBX1):c.393G>A (p.Glu131=)	TBX1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1734031	NM_001379200.1(TBX1):c.396C>T (p.Phe132=)	TBX1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2625218	NM_001379200.1(TBX1):c.409A>G (p.Thr137Ala)	TBX1 (T137A +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 263350	NM_001379200.1(TBX1):c.447T>C (p.Phe149=)	TBX1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign

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