"GeneDx"[submitter] AND "TBX20"[gene] - ClinVar

Search results

Items: 97

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151578	GRCh38/hg38 7p14.3-14.1(chr7:32678391-41044983)x1	AMPH, ANLN +229 more	Copy number loss	See cases	GPathogenic
Select item 59680	GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3	LOC129389795, LOC129389796 +636 more	Copy number gain	See cases	GPathogenic
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 1698357	NM_001077653.2(TBX20):c.1312C>T (p.His438Tyr)	TBX20 (H438Y)	Single nucleotide variant (missense variant)	not provided	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 1762326	NM_001077653.2(TBX20):c.1258C>T (p.Arg420Ter)	TBX20 (R420*)	Single nucleotide variant (nonsense)	not provided +1 more	GUncertain significance
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 2742614	NM_001077653.2(TBX20):c.1254G>A (p.Met418Ile)	TBX20 (M418I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3365463	NM_001077653.2(TBX20):c.1160T>C (p.Leu387Pro)	TBX20 (L387P)	Single nucleotide variant (missense variant)	not provided	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 2574211	NM_001077653.2(TBX20):c.1152G>T (p.Gln384His)	TBX20 (Q384H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2500497	NM_001077653.2(TBX20):c.1120T>A (p.Ser374Thr)	TBX20 (S374T)	Single nucleotide variant (missense variant)	not provided	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 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 3370870	NM_001077653.2(TBX20):c.1062del (p.Ser355fs)	TBX20 (S355fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 422993	NM_001077653.2(TBX20):c.1056TTC[1] (p.Ser355del)	TBX20 (S355del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
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 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 3377890	NM_001077653.2(TBX20):c.1028A>C (p.Asn343Thr)	TBX20 (N343T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 1200577	NM_001077653.2(TBX20):c.1004-262G>C	TBX20	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1205289	NM_001077653.2(TBX20):c.1004-330A>G	TBX20	Single nucleotide variant (intron variant)	not provided	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 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 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 3047068	NM_001077653.2(TBX20):c.953_955delinsAGA (p.Gly318_Gly319delinsGluArg)	TBX20	Indel (missense variant)	not provided	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 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 1312938	NM_001077653.2(TBX20):c.923C>T (p.Ser308Phe)	TBX20 (S308F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306742	NM_001077653.2(TBX20):c.891-9C>G	TBX20	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 1196191	NM_001077653.2(TBX20):c.891-314T>C	TBX20	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1244965	NM_001077653.2(TBX20):c.890+128C>T	TBX20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208513	NM_001077653.2(TBX20):c.890+104A>G	TBX20	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977715	NM_001077653.2(TBX20):c.860G>A (p.Arg287Gln)	TBX20 (R287Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1286671	NM_001077653.2(TBX20):c.814-62A>G	TBX20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222025	NM_001077653.2(TBX20):c.813+145dup	TBX20	Duplication (intron variant)	not provided	GBenign
Select item 1248416	NM_001077653.2(TBX20):c.813+87G>A	TBX20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1313273	NM_001077653.2(TBX20):c.796G>C (p.Ala266Pro)	TBX20 (A266P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 445561	NM_001077653.2(TBX20):c.785C>G (p.Thr262Arg)	TBX20 (T262R)	Single nucleotide variant (missense variant)	not provided	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 3368985	NM_001077653.2(TBX20):c.722C>T (p.Ala241Val)	TBX20 (A241V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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
Select item 1678715	NM_001077653.2(TBX20):c.691G>A (p.Val231Met)	TBX20 (V231M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504518	NM_001077653.2(TBX20):c.679T>A (p.Tyr227Asn)	TBX20 (Y227N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1308800	NM_001077653.2(TBX20):c.677A>G (p.Lys226Arg)	TBX20 (K226R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1190731	NM_001077653.2(TBX20):c.655-13del	TBX20	Deletion (intron variant)	not provided	GBenign/Likely benign
Select item 1222712	NM_001077653.2(TBX20):c.655-44G>A	TBX20	Single nucleotide variant (intron variant)	Atrial septal defect 4 +1 more	GBenign
Select item 1296660	NM_001077653.2(TBX20):c.655-298G>A	TBX20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 392101	NM_001077653.2(TBX20):c.632A>T (p.Asn211Ile)	TBX20 (N211I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2787233	NM_001077653.2(TBX20):c.598A>G (p.Met200Val)	TBX20 (M200V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1311998	NM_001077653.2(TBX20):c.577G>A (p.Gly193Ser)	TBX20 (G193S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1181055	NM_001077653.2(TBX20):c.546-38A>G	TBX20	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1217429	NM_001077653.2(TBX20):c.546-293_546-292insCCACACAC	TBX20	Insertion (intron variant)	not provided	GLikely benign
Select item 1205454	NM_001077653.2(TBX20):c.545+302A>C	TBX20	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1243334	NM_001077653.2(TBX20):c.545+221C>T	TBX20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292248	NM_001077653.2(TBX20):c.545+156C>T	TBX20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241470	NM_001077653.2(TBX20):c.545+76A>G	TBX20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1174684	NM_001077653.2(TBX20):c.545+13A>G	TBX20	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 2663504	NM_001077653.2(TBX20):c.545+5G>A	TBX20	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 518497	NM_001077653.2(TBX20):c.501C>T (p.Ser167=)	TBX20	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1355032	NM_001077653.2(TBX20):c.497G>A (p.Arg166Gln)	TBX20 (R166Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1325972	NM_001077653.2(TBX20):c.481C>T (p.Arg161Cys)	TBX20 (R161C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306726	NM_001077653.2(TBX20):c.468CAA[1] (p.Asn157del)	TBX20 (N157del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1223434	NM_001077653.2(TBX20):c.457G>A (p.Val153Ile)	TBX20 (V153I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 4632	NM_001077653.2(TBX20):c.456C>G (p.Ile152Met)	TBX20 (I152M)	Single nucleotide variant (missense variant)	Atrial septal defect 4 +2 more	GUncertain significance
Select item 1212433	NM_001077653.2(TBX20):c.440T>C (p.Ile147Thr)	TBX20 (I147T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1187558	NM_001077653.2(TBX20):c.418G>A (p.Val140Met)	TBX20 (V140M)	Single nucleotide variant (missense variant)	Atrial septal defect 4 +2 more	GUncertain significance
Select item 264385	NM_001077653.2(TBX20):c.414G>A (p.Ser138=)	TBX20	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1306475	NM_001077653.2(TBX20):c.413C>T (p.Ser138Leu)	TBX20 (S138L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2136109	NM_001077653.2(TBX20):c.382A>T (p.Arg128Trp)	TBX20 (R128W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1198910	NM_001077653.2(TBX20):c.381-40A>G	TBX20	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1326492	NM_001077653.2(TBX20):c.304T>C (p.Cys102Arg)	TBX20 (C102R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 519138	NM_001077653.2(TBX20):c.297A>G (p.Lys99=)	TBX20	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 2579373	NM_001077653.2(TBX20):c.281G>A (p.Ser94Asn)	TBX20 (S94N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371226	NM_001077653.2(TBX20):c.277C>A (p.Pro93Thr)	TBX20 (P93T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1205699	NM_001077653.2(TBX20):c.273C>T (p.Ile91=)	TBX20	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 432984	NM_001077653.2(TBX20):c.262A>G (p.Thr88Ala)	TBX20 (T88A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 518635	NM_001077653.2(TBX20):c.225G>A (p.Pro75=)	TBX20	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1302115	NM_001077653.2(TBX20):c.147_156del (p.Cys51fs)	TBX20 (C51fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1283998	NM_001077653.2(TBX20):c.128-77dup	TBX20	Duplication (intron variant)	not provided	GBenign
Select item 1231918	NM_001077653.2(TBX20):c.128-127dup	TBX20	Duplication (intron variant)	not provided	GBenign
Select item 1223762	NM_001077653.2(TBX20):c.127+45C>G	TBX20	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2574297	NM_001077653.2(TBX20):c.121C>T (p.Pro41Ser)	TBX20 (P41S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1181575	NM_001077653.2(TBX20):c.86C>G (p.Ser29Cys)	TBX20 (S29C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 518385	NM_001077653.2(TBX20):c.39T>C (p.Ser13=)	TBX20	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 3365262	NM_001077653.2(TBX20):c.34T>C (p.Ser12Pro)	TBX20 (S12P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1178455	NM_001077653.2(TBX20):c.-185G>A	TBX20	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1247244	NM_001077653.2(TBX20):c.-186T>C	TBX20	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1204551	NM_001077653.2(TBX20):c.-367G>A	TBX20	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1193679	NC_000007.14:g.35254151A>T	TBX20	Single nucleotide variant	not provided	GLikely benign
Select item 1235355	NC_000007.14:g.35254361A>G	TBX20	Single nucleotide variant	not provided	GBenign
Select item 3360413	NM_001077653.2(TBX20):c.973G>A (p.Gly325Arg)	TBX20 (G325R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 97