"Ambry Genetics"[submitter] AND "TBX20"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 215

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2450715	NM_001077653.2(TBX20):c.1334C>T (p.Pro445Leu)	TBX20 (P445L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1620999	NM_001077653.2(TBX20):c.1332G>A (p.Thr444=)	TBX20	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 519187	NM_001077653.2(TBX20):c.1331C>T (p.Thr444Met)	TBX20 (T444M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3232609	NM_001077653.2(TBX20):c.1329G>A (p.Met443Ile)	TBX20 (M443I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1604200	NM_001077653.2(TBX20):c.1310G>T (p.Arg437Leu)	TBX20 (R437L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 519058	NM_001077653.2(TBX20):c.1310G>A (p.Arg437His)	TBX20 (R437H)	Single nucleotide variant (missense variant)	Atrial septal defect 4 +2 more	GUncertain significance
Select item 518611	NM_001077653.2(TBX20):c.1309C>T (p.Arg437Cys)	TBX20 (R437C)	Single nucleotide variant (missense variant)	Atrial septal defect 4 +2 more	GUncertain significance
Select item 2560825	NM_001077653.2(TBX20):c.1308A>G (p.Leu436=)	TBX20	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1446987	NM_001077653.2(TBX20):c.1303G>A (p.Gly435Arg)	TBX20 (G435R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1586340	NM_001077653.2(TBX20):c.1302A>G (p.Gln434=)	TBX20	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2560827	NM_001077653.2(TBX20):c.1297A>G (p.Ile433Val)	TBX20 (I433V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2450712	NM_001077653.2(TBX20):c.1293T>C (p.Ala431=)	TBX20	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1764760	NM_001077653.2(TBX20):c.1269C>G (p.His423Gln)	TBX20 (H423Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1763780	NM_001077653.2(TBX20):c.1264C>A (p.His422Asn)	TBX20 (H422N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2074104	NM_001077653.2(TBX20):c.1259G>A (p.Arg420Gln)	TBX20 (R420Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3324864	NM_001077653.2(TBX20):c.1258C>A (p.Arg420=)	TBX20	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1762326	NM_001077653.2(TBX20):c.1258C>T (p.Arg420Ter)	TBX20 (R420*)	Single nucleotide variant (nonsense)	not provided +1 more	GUncertain significance
Select item 1574799	NM_001077653.2(TBX20):c.1257G>A (p.Pro419=)	TBX20	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1761891	NM_001077653.2(TBX20):c.1256C>T (p.Pro419Leu)	TBX20 (P419L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1761530	NM_001077653.2(TBX20):c.1254G>C (p.Met418Ile)	TBX20 (M418I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2474773	NM_001077653.2(TBX20):c.1252A>T (p.Met418Leu)	TBX20 (M418L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1755373	NM_001077653.2(TBX20):c.1230C>G (p.Gly410=)	TBX20	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1750502	NM_001077653.2(TBX20):c.1211G>A (p.Ser404Asn)	TBX20 (S404N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1629238	NM_001077653.2(TBX20):c.1203C>T (p.Ala401=)	TBX20	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1218450	NM_001077653.2(TBX20):c.1200G>A (p.Ser400=)	TBX20	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1579476	NM_001077653.2(TBX20):c.1197A>G (p.Pro399=)	TBX20	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1651499	NM_001077653.2(TBX20):c.1191G>A (p.Leu397=)	TBX20	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 3232608	NM_001077653.2(TBX20):c.1190T>C (p.Leu397Pro)	TBX20 (L397P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1743495	NM_001077653.2(TBX20):c.1186C>G (p.Pro396Ala)	TBX20 (P396A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 3324865	NM_001077653.2(TBX20):c.1177C>A (p.Leu393Met)	TBX20 (L393M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1379218	NM_001077653.2(TBX20):c.1175G>T (p.Arg392Leu)	TBX20 (R392L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1740308	NM_001077653.2(TBX20):c.1174C>T (p.Arg392Ter)	TBX20 (R392*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype	GUncertain significance
Select item 1734746	NM_001077653.2(TBX20):c.1153G>T (p.Gly385Cys)	TBX20 (G385C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1730341	NM_001077653.2(TBX20):c.1138C>T (p.Pro380Ser)	TBX20 (P380S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1379501	NM_001077653.2(TBX20):c.1136T>C (p.Ile379Thr)	TBX20 (I379T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1729050	NM_001077653.2(TBX20):c.1133C>T (p.Pro378Leu)	TBX20 (P378L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1799219	NM_001077653.2(TBX20):c.1126G>T (p.Ala376Ser)	TBX20 (A376S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 519073	NM_001077653.2(TBX20):c.1112G>A (p.Ser371Asn)	TBX20 (S371N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3324859	NM_001077653.2(TBX20):c.1099G>A (p.Ala367Thr)	TBX20 (A367T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1575029	NM_001077653.2(TBX20):c.1098T>C (p.Thr366=)	TBX20	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2585864	NM_001077653.2(TBX20):c.1086A>G (p.Pro362=)	TBX20	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2585865	NM_001077653.2(TBX20):c.1084C>T (p.Pro362Ser)	TBX20 (P362S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2904677	NM_001077653.2(TBX20):c.1083C>A (p.His361Gln)	TBX20 (H361Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2565377	NM_001077653.2(TBX20):c.1067T>C (p.Phe356Ser)	TBX20 (F356S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2565378	NM_001077653.2(TBX20):c.1065T>G (p.Ser355Arg)	TBX20 (S355R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1312291	NM_001077653.2(TBX20):c.1063A>T (p.Ser355Cys)	TBX20 (S355C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1624163	NM_001077653.2(TBX20):c.1056T>A (p.Ser352=)	TBX20	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1422670	NM_001077653.2(TBX20):c.1050A>G (p.Val350=)	TBX20	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1303716	NM_001077653.2(TBX20):c.1046G>C (p.Trp349Ser)	TBX20 (W349S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1493849	NM_001077653.2(TBX20):c.1036C>G (p.Leu346Val)	TBX20 (L346V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1193662	NM_001077653.2(TBX20):c.1032G>A (p.Leu344=)	TBX20	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2284499	NM_001077653.2(TBX20):c.1021T>G (p.Ser341Ala)	TBX20 (S341A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1757636	NM_001077653.2(TBX20):c.1020A>G (p.Thr340=)	TBX20	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 518383	NM_001077653.2(TBX20):c.1017A>C (p.Thr339=)	TBX20	Single nucleotide variant (synonymous variant)	Atrial septal defect 4 +2 more	GBenign/Likely benign
Select item 1482933	NM_001077653.2(TBX20):c.1009G>A (p.Ala337Thr)	TBX20 (A337T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1201775	NM_001077653.2(TBX20):c.1006T>A (p.Ser336Thr)	TBX20 (S336T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1485208	NM_001077653.2(TBX20):c.1001G>A (p.Arg334Gln)	TBX20 (R334Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 1741029	NM_001077653.2(TBX20):c.1000C>T (p.Arg334Ter)	TBX20 (R334*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype	GUncertain significance
Select item 1768788	NM_001077653.2(TBX20):c.997A>G (p.Asn333Asp)	TBX20 (N333D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 691824	NM_001077653.2(TBX20):c.994C>T (p.Pro332Ser)	TBX20 (P332S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1768606	NM_001077653.2(TBX20):c.991A>G (p.Thr331Ala)	TBX20 (T331A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1768334	NM_001077653.2(TBX20):c.982A>G (p.Ser328Gly)	TBX20 (S328G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1975136	NM_001077653.2(TBX20):c.975G>A (p.Gly325=)	TBX20	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1312662	NM_001077653.2(TBX20):c.971T>C (p.Leu324Ser)	TBX20 (L324S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1449663	NM_001077653.2(TBX20):c.955G>A (p.Gly319Arg)	TBX20 (G319R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1767284	NM_001077653.2(TBX20):c.952G>A (p.Gly318Arg)	TBX20 (G318R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1586005	NM_001077653.2(TBX20):c.951C>T (p.Tyr317=)	TBX20	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1767114	NM_001077653.2(TBX20):c.948C>T (p.Thr316=)	TBX20	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1767087	NM_001077653.2(TBX20):c.947C>A (p.Thr316Asn)	TBX20 (T316N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1314864	NM_001077653.2(TBX20):c.944G>A (p.Arg315His)	TBX20 (R315H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3232619	NM_001077653.2(TBX20):c.942C>G (p.Ile314Met)	TBX20 (I314M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2490424	NM_001077653.2(TBX20):c.937C>A (p.Pro313Thr)	TBX20 (P313T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1766591	NM_001077653.2(TBX20):c.932G>T (p.Arg311Leu)	TBX20 (R311L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1766587	NM_001077653.2(TBX20):c.932G>A (p.Arg311His)	TBX20 (R311H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 518384	NM_001077653.2(TBX20):c.931C>T (p.Arg311Cys)	TBX20 (R311C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GBenign/Likely benign
Select item 1766443	NM_001077653.2(TBX20):c.928G>A (p.Ala310Thr)	TBX20 (A310T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2585860	NM_001077653.2(TBX20):c.902A>T (p.Glu301Val)	TBX20 (E301V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 518574	NM_001077653.2(TBX20):c.895A>G (p.Ser299Gly)	TBX20 (S299G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1764691	NM_001077653.2(TBX20):c.879T>A (p.Thr293=)	TBX20	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1764473	NM_001077653.2(TBX20):c.872G>A (p.Arg291Lys)	TBX20 (R291K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1763704	NM_001077653.2(TBX20):c.851A>G (p.Lys284Arg)	TBX20 (K284R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2450716	NM_001077653.2(TBX20):c.850A>G (p.Lys284Glu)	TBX20 (K284E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2624678	NM_001077653.2(TBX20):c.846T>C (p.Phe282=)	TBX20	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1762896	NM_001077653.2(TBX20):c.831A>T (p.Ile277=)	TBX20	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1762788	NM_001077653.2(TBX20):c.829A>G (p.Ile277Val)	TBX20 (I277V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1762750	NM_001077653.2(TBX20):c.828A>G (p.Lys276=)	TBX20	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1652032	NM_001077653.2(TBX20):c.822G>A (p.Lys274=)	TBX20	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 519119	NM_001077653.2(TBX20):c.818C>T (p.Thr273Met)	TBX20 (T273M)	Single nucleotide variant (missense variant)	Atrial septal defect 4 +2 more	GUncertain significance
Select item 762597	NM_001077653.2(TBX20):c.795T>C (p.Thr265=)	TBX20	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1760960	NM_001077653.2(TBX20):c.786G>A (p.Thr262=)	TBX20	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1388244	NM_001077653.2(TBX20):c.785C>T (p.Thr262Met)	TBX20 (T262M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 518492	NM_001077653.2(TBX20):c.765C>A (p.Ile255=)	TBX20	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 2602319	NM_001077653.2(TBX20):c.763A>G (p.Ile255Val)	TBX20 (I255V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2874942	NM_001077653.2(TBX20):c.750A>G (p.Glu250=)	TBX20	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1759013	NM_001077653.2(TBX20):c.745G>A (p.Glu249Lys)	TBX20 (E249K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 519037	NM_001077653.2(TBX20):c.744T>C (p.Ser248=)	TBX20	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1594096	NM_001077653.2(TBX20):c.735C>T (p.Asn245=)	TBX20	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1757621	NM_001077653.2(TBX20):c.719C>T (p.Thr240Ile)	TBX20 (T240I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1757514	NM_001077653.2(TBX20):c.717C>T (p.His239=)	TBX20	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1757375	NM_001077653.2(TBX20):c.714C>A (p.Asp238Glu)	TBX20 (D238E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

<< First< Prev

Page of 3