TBX20[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	ABCB5, ACTB +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	LOC126860013, LOC126860014 +1298 more	Copy number gain	See cases	GPathogenic
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 132829	NM_001077653.2(TBX20):c.1392T>A	TBX20	Single nucleotide variant (genic downstream transcript variant)	Atrial septal defect 4	GUncertain significance
Select item 132828	NM_001077653.2(TBX20):c.1357T>A	TBX20	Single nucleotide variant (genic downstream transcript variant)	Atrial septal defect 4	GUncertain significance
Select item 132827	NM_001077653.2(TBX20):c.1356A>T	TBX20	Single nucleotide variant (genic downstream transcript variant)	Atrial septal defect 4	GUncertain significance
Select item 2450715	NM_001077653.2(TBX20):c.1334C>T (p.Pro445Leu)	TBX20 (P445L)	Single nucleotide variant (missense variant)	TBX20-related condition +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 1607405	NM_001077653.2(TBX20):c.1332G>C (p.Thr444=)	TBX20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 519187	NM_001077653.2(TBX20):c.1331C>T (p.Thr444Met)	TBX20 (T444M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 2697049	NM_001077653.2(TBX20):c.1322C>T (p.Ala441Val)	TBX20 (A441V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2847305	NM_001077653.2(TBX20):c.1321G>C (p.Ala441Pro)	TBX20 (A441P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2809573	NM_001077653.2(TBX20):c.1319C>A (p.Ser440Tyr)	TBX20 (S440Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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)	not provided +2 more	GUncertain significance
Select item 2560825	NM_001077653.2(TBX20):c.1308A>G (p.Leu436=)	TBX20	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +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 2632965	NM_001077653.2(TBX20):c.1285C>A (p.Pro429Thr)	TBX20 (P429T)	Single nucleotide variant (missense variant)	TBX20-related condition	GUncertain significance
Select item 1629948	NM_001077653.2(TBX20):c.1284G>A (p.Gly428=)	TBX20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2742119	NM_001077653.2(TBX20):c.1282G>C (p.Gly428Arg)	TBX20 (G428R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1578060	NM_001077653.2(TBX20):c.1272T>C (p.Tyr424=)	TBX20	Single nucleotide variant (synonymous variant)	not provided	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)	Cardiovascular phenotype +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	GUncertain significance
Select item 1762326	NM_001077653.2(TBX20):c.1258C>T (p.Arg420Ter)	TBX20 (R420*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1574799	NM_001077653.2(TBX20):c.1257G>A (p.Pro419=)	TBX20	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1761891	NM_001077653.2(TBX20):c.1256C>T (p.Pro419Leu)	TBX20 (P419L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +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 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 1468209	NM_001077653.2(TBX20):c.1254G>T (p.Met418Ile)	TBX20 (M418I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2474773	NM_001077653.2(TBX20):c.1252A>T (p.Met418Leu)	TBX20 (M418L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2089312	NM_001077653.2(TBX20):c.1250A>G (p.His417Arg)	TBX20 (H417R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2058726	NM_001077653.2(TBX20):c.1239C>T (p.Phe413=)	TBX20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1566289	NM_001077653.2(TBX20):c.1233C>G (p.Pro411=)	TBX20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1499347	NM_001077653.2(TBX20):c.1232C>G (p.Pro411Arg)	TBX20 (P411R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1941527	NM_001077653.2(TBX20):c.1231C>T (p.Pro411Ser)	TBX20 (P411S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1755373	NM_001077653.2(TBX20):c.1230C>G (p.Gly410=)	TBX20	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2058080	NM_001077653.2(TBX20):c.1227T>C (p.Ser409=)	TBX20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2829188	NM_001077653.2(TBX20):c.1213T>C (p.Ser405Pro)	TBX20 (S405P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2018286	NM_001077653.2(TBX20):c.1206T>G (p.Ile402Met)	TBX20 (I402M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1918489	NM_001077653.2(TBX20):c.1204A>G (p.Ile402Val)	TBX20 (I402V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1629238	NM_001077653.2(TBX20):c.1203C>T (p.Ala401=)	TBX20	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2894163	NM_001077653.2(TBX20):c.1202C>T (p.Ala401Val)	TBX20 (A401V)	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 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 2832738	NM_001077653.2(TBX20):c.1189_1190del (p.Leu397fs)	TBX20 (L397fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 132826	NM_001077653.2(TBX20):c.1189C>T (p.Leu397=)	TBX20	Single nucleotide variant (synonymous variant)	Atrial septal defect 4	GUncertain significance
Select item 1743495	NM_001077653.2(TBX20):c.1186C>G (p.Pro396Ala)	TBX20 (P396A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 132825	NM_001077653.2(TBX20):c.1184T>G (p.Met395Arg)	TBX20 (M395R)	Single nucleotide variant (missense variant)	Atrial septal defect 4	GUncertain significance
Select item 1508029	NM_001077653.2(TBX20):c.1175G>C (p.Arg392Pro)	TBX20 (R392P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1381321	NM_001077653.2(TBX20):c.1175G>A (p.Arg392Gln)	TBX20 (R392Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1379218	NM_001077653.2(TBX20):c.1175G>T (p.Arg392Leu)	TBX20 (R392L)	Single nucleotide variant (missense variant)	not provided +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 2874453	NM_001077653.2(TBX20):c.1169A>G (p.Tyr390Cys)	TBX20 (Y390C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1969026	NM_001077653.2(TBX20):c.1167A>G (p.Pro389=)	TBX20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2088441	NM_001077653.2(TBX20):c.1159C>T (p.Leu387=)	TBX20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1734746	NM_001077653.2(TBX20):c.1153G>T (p.Gly385Cys)	TBX20 (G385C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	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 2064701	NM_001077653.2(TBX20):c.1143C>T (p.His381=)	TBX20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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)	not provided +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 2436989	NM_001077653.2(TBX20):c.1124T>C (p.Ile375Thr)	TBX20 (I375T)	Single nucleotide variant (missense variant)	not provided +1 more	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 2657384	NM_001077653.2(TBX20):c.1109_1119del (p.Thr370fs)	TBX20 (T370fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 519073	NM_001077653.2(TBX20):c.1112G>A (p.Ser371Asn)	TBX20 (S371N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 132824	NM_001077653.2(TBX20):c.1108A>C (p.Thr370Pro)	TBX20 (T370P)	Single nucleotide variant (missense variant)	Atrial septal defect 4	GUncertain significance
Select item 2111721	NM_001077653.2(TBX20):c.1100C>T (p.Ala367Val)	TBX20 (A367V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1575029	NM_001077653.2(TBX20):c.1098T>C (p.Thr366=)	TBX20	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2836895	NM_001077653.2(TBX20):c.1089G>A (p.Gln363=)	TBX20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2883321	NM_001077653.2(TBX20):c.1088A>C (p.Gln363Pro)	TBX20 (Q363P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2107177	NM_001077653.2(TBX20):c.1088A>T (p.Gln363Leu)	TBX20 (Q363L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1408484	NM_001077653.2(TBX20):c.1087C>T (p.Gln363Ter)	TBX20 (Q363*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
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)	not provided	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 1363264	NM_001077653.2(TBX20):c.1064G>A (p.Ser355Asn)	TBX20 (S355N)	Single nucleotide variant (missense variant)	not provided	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 422993	NM_001077653.2(TBX20):c.1056TTC[1] (p.Ser355del)	TBX20 (S355del)	Microsatellite (inframe_deletion)	not provided	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 1989807	NM_001077653.2(TBX20):c.1053A>G (p.Ser351=)	TBX20	Single nucleotide variant (synonymous variant)	not provided	GLikely 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 1921105	NM_001077653.2(TBX20):c.1046G>A (p.Trp349Ter)	TBX20 (W349*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1303716	NM_001077653.2(TBX20):c.1046G>C (p.Trp349Ser)	TBX20 (W349S)	Single nucleotide variant (missense variant)	Atrial septal defect 4 +2 more	GUncertain significance
Select item 1919484	NM_001077653.2(TBX20):c.1040G>A (p.Ser347Asn)	TBX20 (S347N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1493849	NM_001077653.2(TBX20):c.1036C>G (p.Leu346Val)	TBX20 (L346V)	Single nucleotide variant (missense variant)	Atrial septal defect 4 +1 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 1391310	NM_001077653.2(TBX20):c.1022C>G (p.Ser341Cys)	TBX20 (S341C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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