ClinVar for Gene (Select 9496) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3351007	NM_001321120.2(TBX4):c.893A>G (p.Gln298Arg)	TBX4 (Q298R)	Single nucleotide variant (missense variant)	TBX4-related disorder	GUncertain significance
Select item 3344544	NM_001321120.2(TBX4):c.40T>C (p.Phe14Leu)	TBX4 (F14L)	Single nucleotide variant (missense variant)	TBX4-related disorder	GUncertain significance
Select item 3324879	NM_001321120.2(TBX4):c.890A>G (p.His297Arg)	TBX4 (H297R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3324878	NM_001321120.2(TBX4):c.1412A>G (p.His471Arg)	TBX4 (H470R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3324877	NM_001321120.2(TBX4):c.868G>C (p.Val290Leu)	TBX4 (V290L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3324876	NM_001321120.2(TBX4):c.1635C>A (p.Asp545Glu)	TBX4 (D544E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3324875	NM_001321120.2(TBX4):c.1380C>T (p.Ser460=)	TBX4	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3324874	NM_001321120.2(TBX4):c.155C>T (p.Ala52Val)	TBX4 (A52V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3324873	NM_001321120.2(TBX4):c.1409C>G (p.Ala470Gly)	TBX4 (A469G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3253049	NM_001321120.2(TBX4):c.1126C>G (p.Gln376Glu)	TBX4 (Q375E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3243200	NC_000017.10:g.(?_59543160)_(59545038_?)del	TBX4	Deletion	not provided	GPathogenic
Select item 3243199	NC_000017.10:g.(?_59544851)_(59545038_?)del	TBX4	Deletion	not provided	GPathogenic
Select item 3243197	NC_000017.10:g.(?_59543160)_(59543319_?)del	TBX4	Deletion	not provided	GUncertain significance
Select item 3174978	NM_001321120.2(TBX4):c.805G>A (p.Val269Met)	TBX4 (V269M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3174977	NM_001321120.2(TBX4):c.265A>G (p.Ile89Val)	TBX4 (I89V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3174976	NM_001321120.2(TBX4):c.1499A>G (p.Gln500Arg)	TBX4 (Q499R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3174975	NM_001321120.2(TBX4):c.1334C>T (p.Thr445Met)	TBX4 (T445M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3174974	NM_001321120.2(TBX4):c.125C>A (p.Ala42Asp)	TBX4 (A42D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3174972	NM_001321120.2(TBX4):c.1051T>G (p.Cys351Gly)	TBX4 (C351G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3148898	GRCh37/hg19 17q23.2-23.3(chr17:58596397-62540700)x3	ACE, APPBP2 +43 more	Copy number gain	See cases	GUncertain significance
Select item 3061910	NM_001321120.2(TBX4):c.549+1G>A	TBX4	Single nucleotide variant (splice donor variant)	Coxopodopatellar syndrome	GPathogenic
Select item 3056050	NM_001321120.2(TBX4):c.621C>T (p.Phe207=)	TBX4	Single nucleotide variant (synonymous variant)	TBX4-related disorder	GLikely benign
Select item 3051807	NM_001321120.2(TBX4):c.-3-587C>G	TBX4	Single nucleotide variant (intron variant)	TBX4-related disorder	GLikely benign
Select item 3032218	NM_001321120.2(TBX4):c.922G>A (p.Gly308Arg)	TBX4 (G308R)	Single nucleotide variant (missense variant)	TBX4-related disorder	GUncertain significance
Select item 3001877	NM_001321120.2(TBX4):c.456G>T (p.Pro152=)	TBX4	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2994887	NM_001321120.2(TBX4):c.487C>T (p.Arg163Trp)	TBX4 (R163W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2970626	NM_001321120.2(TBX4):c.401+17C>T	TBX4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958520	NM_001321120.2(TBX4):c.549+12G>T	TBX4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2921022	NM_001321120.2(TBX4):c.1213G>A (p.Val405Met)	TBX4 (V404M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2906952	NM_001321120.2(TBX4):c.34G>A (p.Glu12Lys)	TBX4 (E12K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2906907	NM_001321120.2(TBX4):c.1464C>T (p.Pro488=)	TBX4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2857352	NM_001321120.2(TBX4):c.571A>T (p.Lys191Ter)	TBX4 (K191*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2825071	NM_001321120.2(TBX4):c.593del (p.Ile198fs)	TBX4 (I198fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2821134	NM_001321120.2(TBX4):c.178G>A (p.Ala60Thr)	TBX4 (A60T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2799754	NM_001321120.2(TBX4):c.847C>T (p.Gln283Ter)	TBX4 (Q283*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2796604	NM_001321120.2(TBX4):c.91G>A (p.Glu31Lys)	TBX4 (E31K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2758174	NM_001321120.2(TBX4):c.400T>C (p.Trp134Arg)	TBX4 (W134R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2721480	NM_001321120.2(TBX4):c.804C>T (p.Pro268=)	TBX4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2711205	NM_001321120.2(TBX4):c.165CGC[6] (p.Ala60_Glu61insAla)	TBX4	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2700196	NM_001321120.2(TBX4):c.187-4C>T	TBX4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2685604	GRCh37/hg19 17q23.1-23.2(chr17:58111095-60355640)x1	APPBP2, BCAS3 +12 more	Copy number loss	not provided	GPathogenic
Select item 2663105	NM_001321120.2(TBX4):c.94C>G (p.Pro32Ala)	TBX4 (P32A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2647999	NM_001321120.2(TBX4):c.165CGC[4] (p.Ala60del)	TBX4 (A60del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2647998	NM_001321120.2(TBX4):c.-3-583T>C	TBX4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2636325	NM_001321120.2(TBX4):c.784C>A (p.Leu262Met)	TBX4 (L262M)	Single nucleotide variant (missense variant)	TBX4-related disorder	GUncertain significance
Select item 2619614	NM_001321120.2(TBX4):c.652G>T (p.Val218Leu)	TBX4 (V218L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602701	NM_001321120.2(TBX4):c.23C>T (p.Ser8Phe)	TBX4 (S8F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2584534	NM_001321120.2(TBX4):c.748del (p.Arg250fs)	TBX4 (R250fs)	Deletion (frameshift variant)	TBX4-related disorder	GLikely pathogenic
Select item 2574400	NM_001321120.2(TBX4):c.445T>A (p.Tyr149Asn)	TBX4 (Y149N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2545974	NM_001321120.2(TBX4):c.1436C>T (p.Ser479Phe)	TBX4 (S478F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514722	NM_001321120.2(TBX4):c.367G>A (p.Asp123Asn)	TBX4 (D123N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510802	NM_001321120.2(TBX4):c.772C>T (p.Arg258Cys)	TBX4 (R258C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2503113	NM_001321120.2(TBX4):c.1021G>A (p.Ala341Thr)	TBX4 (A341T +1 more)	Single nucleotide variant (missense variant)	Coxopodopatellar syndrome	GUncertain significance
Select item 2494297	NM_001321120.2(TBX4):c.1558T>A (p.Ser520Thr)	TBX4 (S520T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475290	NM_001321120.2(TBX4):c.560A>C (p.Asn187Thr)	TBX4 (N187T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460896	NM_001321120.2(TBX4):c.1114C>A (p.Pro372Thr)	TBX4 (P371T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2424709	NC_000017.10:g.(?_58227396)_(59938900_?)del	APPBP2, BCAS3 +9 more	Deletion	not provided	GUncertain significance
Select item 2423351	NC_000017.10:g.(?_58227396)_(59938900_?)dup	APPBP2, BCAS3 +9 more	Duplication	not provided	GUncertain significance
Select item 2415719	NM_001321120.2(TBX4):c.71C>T (p.Ala24Val)	TBX4 (A24V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2396457	NM_001321120.2(TBX4):c.1565C>G (p.Thr522Ser)	TBX4 (T521S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2331935	NM_001321120.2(TBX4):c.1181T>C (p.Met394Thr)	TBX4 (M393T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330927	NM_001321120.2(TBX4):c.97G>T (p.Ala33Ser)	TBX4 (A33S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329972	NM_001321120.2(TBX4):c.1301C>T (p.Thr434Met)	TBX4 (T433M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252459	NM_001321120.2(TBX4):c.476C>G (p.Ala159Gly)	TBX4 (A159G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249364	NM_001321120.2(TBX4):c.1580G>A (p.Arg527Gln)	TBX4 (R526Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229179	NM_001321120.2(TBX4):c.902A>G (p.Gln301Arg)	TBX4 (Q301R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218363	NM_001321120.2(TBX4):c.1396C>T (p.Pro466Ser)	TBX4 (P465S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2195834	NM_001321120.2(TBX4):c.1244C>T (p.Pro415Leu)	TBX4 (P414L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2187464	NM_001321120.2(TBX4):c.151G>C (p.Gly51Arg)	TBX4 (G51R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2179476	NM_001321120.2(TBX4):c.612C>T (p.Asn204=)	TBX4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2176383	NM_001321120.2(TBX4):c.1114C>G (p.Pro372Ala)	TBX4 (P372A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2168471	NM_001321120.2(TBX4):c.1489G>A (p.Gly497Ser)	TBX4 (G497S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2147803	NM_001321120.2(TBX4):c.1034G>A (p.Arg345His)	TBX4 (R345H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2035507	NM_001321120.2(TBX4):c.721G>T (p.Glu241Ter)	TBX4 (E241*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1992375	NM_001321120.2(TBX4):c.271A>G (p.Lys91Glu)	TBX4 (K91E)	Single nucleotide variant (missense variant)	Coxopodopatellar syndrome	GLikely pathogenic
Select item 1965499	NM_001321120.2(TBX4):c.934C>T (p.Gln312Ter)	TBX4 (Q312*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1959718	NM_001321120.2(TBX4):c.55_75del (p.Pro19_Ser25del)	TBX4	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1927452	NM_001321120.2(TBX4):c.1363C>T (p.Arg455Trp)	TBX4 (R454W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1803454	NM_001321120.2(TBX4):c.862C>G (p.Pro288Ala)	TBX4 (P288A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1703621	GRCh37/hg19 17q23.1-23.2(chr17:58111094-60323067)	APPBP2, BCAS3 +12 more	Copy number gain	Familial clubfoot due to 17q23.1q23.2 microduplication	GLikely pathogenic
Select item 1685462	NM_001321120.2(TBX4):c.3G>A (p.Met1Ile)	TBX4 (M1I)	Single nucleotide variant (missense variant +1 more)	Coxopodopatellar syndrome	GLikely pathogenic
Select item 1584438	NM_001321120.2(TBX4):c.1451G>A (p.Arg484Gln)	TBX4 (R483Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1583821	NM_001321120.2(TBX4):c.186+16C>T	TBX4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1575210	NM_001321120.2(TBX4):c.1350C>T (p.Thr450=)	TBX4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1545804	NM_001321120.2(TBX4):c.525C>T (p.Asn175=)	TBX4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1525581	NM_001321120.2(TBX4):c.175G>A (p.Ala59Thr)	TBX4 (A59T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1456638	NC_000017.10:g.(?_59533852)_(59560877_?)del	TBX4	Deletion	not provided	GPathogenic
Select item 1454188	NM_001321120.2(TBX4):c.994del (p.Leu332fs)	TBX4 (L332fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1412084	NC_000017.10:g.(?_54671585)_(59938900_?)dup	AKAP1, APPBP2 +54 more	Duplication	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 1409931	NM_001321120.2(TBX4):c.863C>T (p.Pro288Leu)	TBX4 (P288L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1408059	NM_001321120.2(TBX4):c.1078T>A (p.Ser360Thr)	TBX4 (S360T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1341467	NM_001321120.2(TBX4):c.1354A>G (p.Met452Val)	TBX4 (M451V +1 more)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	Gnot provided
Select item 1341466	NM_001321120.2(TBX4):c.-3-581G>A	TBX4	Single nucleotide variant (intron variant +1 more)	Pulmonary hypertension, primary, 1	Gnot provided
Select item 1341465	NM_001321120.2(TBX4):c.229T>C (p.Trp77Arg)	TBX4 (W77R)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	Gnot provided
Select item 1341464	NM_001321120.2(TBX4):c.677C>A (p.Ser226Tyr)	TBX4 (S226Y)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	Gnot provided
Select item 1341463	NM_001321120.2(TBX4):c.916G>T (p.Glu306Ter)	TBX4 (E306*)	Single nucleotide variant (nonsense)	Pulmonary hypertension, primary, 1	GLikely pathogenic
Select item 1341462	NM_001321120.2(TBX4):c.167C>T (p.Ala56Val)	TBX4 (A56V)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 1341461	NM_001321120.2(TBX4):c.401G>C (p.Trp134Ser)	TBX4 (W134S)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	Gnot provided
Select item 1341460	NM_001321120.2(TBX4):c.432G>T (p.Met144Ile)	TBX4 (M144I)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	Gnot provided
Select item 1341459	NM_001321120.2(TBX4):c.1461dup (p.Pro488fs)	TBX4 (P487fs +1 more)	Duplication (frameshift variant)	Pulmonary hypertension, primary, 1	Gnot provided

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