TBX4[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 299

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	LOC112533659, LOC112533660 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	AARSD1, AATF +1753 more	Copy number gain	See cases	GPathogenic
Select item 57542	GRCh38/hg38 17q23.1-23.2(chr17:60043448-62148729)x1	APPBP2, APPBP2-DT +61 more	Copy number loss	See cases	GPathogenic
Select item 57455	GRCh38/hg38 17q23.1-23.2(chr17:60095339-62237942)x1	APPBP2, APPBP2-DT +56 more	Copy number loss	See cases	GPathogenic
Select item 146527	GRCh38/hg38 17q23.2(chr17:60255192-62237942)x1	APPBP2, APPBP2-DT +49 more	Copy number loss	See cases	GPathogenic
Select item 3051807	NM_001321120.2(TBX4):c.-3-587C>G	TBX4	Single nucleotide variant (intron variant)	TBX4-related disorder	GLikely benign
Select item 2647998	NM_001321120.2(TBX4):c.-3-583T>C	TBX4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1341466	NM_001321120.2(TBX4):c.-3-581G>A	TBX4	Single nucleotide variant (genic upstream transcript variant +1 more)	Pulmonary hypertension, primary, 1	Gnot provided
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 324240	NM_001321120.2(TBX4):c.16G>A (p.Gly6Ser)	TBX4 (G6S)	Single nucleotide variant (missense variant)	Coxopodopatellar syndrome +2 more	GBenign/Likely benign
Select item 324241	NM_001321120.2(TBX4):c.17G>C (p.Gly6Ala)	TBX4 (G6A)	Single nucleotide variant (missense variant)	Coxopodopatellar syndrome +1 more	GBenign
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 324242	NM_001321120.2(TBX4):c.24C>T (p.Ser8=)	TBX4	Single nucleotide variant (synonymous variant)	Coxopodopatellar syndrome +1 more	GBenign/Likely benign
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 812874	NM_001321120.2(TBX4):c.40_49del (p.Phe14fs)	TBX4 (F14fs)	Deletion (frameshift variant)	Pulmonary arterial hypertension	GLikely pathogenic
Select item 889395	NM_001321120.2(TBX4):c.47C>T (p.Ala16Val)	TBX4 (A16V)	Single nucleotide variant (missense variant)	Coxopodopatellar syndrome	GUncertain significance
Select item 1959718	NM_001321120.2(TBX4):c.55_75del (p.Pro19_Ser25del)	TBX4	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1341425	NM_001321120.2(TBX4):c.64G>T (p.Gly22Ter)	TBX4 (G22*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2415719	NM_001321120.2(TBX4):c.71C>T (p.Ala24Val)	TBX4 (A24V)	Single nucleotide variant (missense variant)	not provided	GBenign
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 2663105	NM_001321120.2(TBX4):c.94C>G (p.Pro32Ala)	TBX4 (P32A)	Single nucleotide variant (missense variant)	not provided	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 324243	NM_001321120.2(TBX4):c.104C>T (p.Ala35Val)	TBX4 (A35V)	Single nucleotide variant (missense variant)	Coxopodopatellar syndrome +1 more	GBenign
Select item 324244	NM_001321120.2(TBX4):c.108G>T (p.Ala36=)	TBX4	Single nucleotide variant (synonymous variant)	Coxopodopatellar syndrome	GUncertain significance
Select item 1341419	NM_001321120.2(TBX4):c.113dup (p.Leu39fs)	TBX4 (L39fs)	Duplication (frameshift variant)	Coxopodopatellar syndrome	Gnot provided
Select item 324245	NM_001321120.2(TBX4):c.110C>T (p.Pro37Leu)	TBX4 (P37L)	Single nucleotide variant (missense variant)	Coxopodopatellar syndrome +1 more	GUncertain significance
Select item 812875	NM_001321120.2(TBX4):c.121G>T (p.Gly41Ter)	TBX4 (G41*)	Single nucleotide variant (nonsense)	Pulmonary arterial hypertension	GLikely pathogenic
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 1341457	NM_001321120.2(TBX4):c.143dup (p.Pro50fs)	TBX4 (P50fs)	Duplication (frameshift variant)	Pulmonary hypertension, primary, 1	Gnot provided
Select item 1341436	NM_001321120.2(TBX4):c.146del (p.Gly49fs)	TBX4 (G49fs)	Deletion (frameshift variant)	Pulmonary hypertension, primary, 1	GLikely pathogenic
Select item 1341416	NM_001321120.2(TBX4):c.150del (p.Ala52fs)	TBX4 (A52fs)	Deletion (frameshift variant)	Pulmonary hypertension, primary, 1	GLikely pathogenic
Select item 1341458	NM_001321120.2(TBX4):c.153_181del (p.Val54fs)	TBX4 (V54fs)	Deletion (frameshift variant)	Pulmonary hypertension, primary, 1	Gnot provided
Select item 890083	NM_001321120.2(TBX4):c.150C>T (p.Pro50=)	TBX4	Single nucleotide variant (synonymous variant)	Coxopodopatellar syndrome	GUncertain significance
Select item 2187464	NM_001321120.2(TBX4):c.151G>C (p.Gly51Arg)	TBX4 (G51R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 714022	NM_001321120.2(TBX4):c.159C>T (p.Asp53=)	TBX4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2711205	NM_001321120.2(TBX4):c.165CGC[6] (p.Ala60_Glu61insAla)	TBX4	Microsatellite (inframe_insertion)	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 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 324246	NM_001321120.2(TBX4):c.172G>A (p.Ala58Thr)	TBX4 (A58T)	Single nucleotide variant (missense variant)	Coxopodopatellar syndrome	GBenign
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 1341440	NM_001321120.2(TBX4):c.179_180dup (p.Glu61fs)	TBX4 (E61fs)	Microsatellite (frameshift variant)	Pulmonary hypertension, primary, 1	GLikely pathogenic
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 7856	NM_001321120.2(TBX4):c.184C>T (p.Gln62Ter)	TBX4 (Q62*)	Single nucleotide variant (nonsense)	Coxopodopatellar syndrome	GPathogenic
Select item 1583821	NM_001321120.2(TBX4):c.186+16C>T	TBX4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 324247	NM_001321120.2(TBX4):c.187-15C>T	TBX4	Single nucleotide variant (intron variant)	Coxopodopatellar syndrome	GBenign
Select item 2700196	NM_001321120.2(TBX4):c.187-4C>T	TBX4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1341441	NM_001321120.2(TBX4):c.210dup (p.Leu71fs)	TBX4 (L71fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 1341405	NM_001321120.2(TBX4):c.231G>A (p.Trp77Ter)	TBX4 (W77*)	Single nucleotide variant (nonsense)	Pulmonary hypertension, primary, 1	Gnot provided
Select item 754470	NM_001321120.2(TBX4):c.240C>T (p.Phe80=)	TBX4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 800703	NM_001321120.2(TBX4):c.251del (p.Gly84fs)	TBX4 (G84fs)	Deletion (frameshift variant)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 324248	NM_001321120.2(TBX4):c.249G>A (p.Ala83=)	TBX4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 800378	NM_001321120.2(TBX4):c.256G>A (p.Glu86Lys)	TBX4 (E86K)	Single nucleotide variant (missense variant)	Primary pulmonary hypoplasia	GUncertain significance
Select item 633611	NM_001321120.2(TBX4):c.256G>C (p.Glu86Gln)	TBX4 (E86Q)	Single nucleotide variant (missense variant)	not provided	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 1311494	NM_001321120.2(TBX4):c.266T>A (p.Ile89Asn)	TBX4 (I89N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 324249	NM_001321120.2(TBX4):c.276T>G (p.Ala92=)	TBX4	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 807511	NM_001321120.2(TBX4):c.281+1G>T	TBX4	Single nucleotide variant (splice donor variant)	Coxopodopatellar syndrome	GPathogenic
Select item 452418	NM_001321120.2(TBX4):c.281+1G>A	TBX4	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1259315	NM_001321120.2(TBX4):c.282-102_282-100del	TBX4	Deletion (intron variant)	not provided	GBenign
Select item 1257544	NM_001321120.2(TBX4):c.282-100_282-99insTT	TBX4	Insertion (intron variant)	not provided	GBenign
Select item 1288013	NM_001321120.2(TBX4):c.282-90T>C	TBX4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1341427	NM_001321120.2(TBX4):c.287T>A (p.Met96Lys)	TBX4 (M96K)	Single nucleotide variant (missense variant)	Coxopodopatellar syndrome	Gnot provided
Select item 1185696	NM_001321120.2(TBX4):c.292C>G (p.Pro98Ala)	TBX4 (P98A)	Single nucleotide variant (missense variant)	Coxopodopatellar syndrome +1 more	GUncertain significance
Select item 1341442	NM_001321120.2(TBX4):c.293C>T (p.Pro98Leu)	TBX4 (P98L)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 548692	NM_001321120.2(TBX4):c.293C>G (p.Pro98Arg)	TBX4 (P98R)	Single nucleotide variant (missense variant)	Pulmonary arterial hypertension associated with congenital heart disease	GLikely pathogenic
Select item 432517	NM_001321120.2(TBX4):c.295A>G (p.Ser99Gly)	TBX4 (S99G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1341443	NM_001321120.2(TBX4):c.299A>G (p.Tyr100Cys)	TBX4 (Y100C)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 1341403	NM_001321120.2(TBX4):c.308_310dup (p.Lys103_Val104insGlu)	TBX4	Duplication (inframe_insertion)	Pulmonary hypertension, primary, 1	Gnot provided
Select item 1341438	NM_001321120.2(TBX4):c.316G>A (p.Gly106Ser)	TBX4 (G106S)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1 +1 more	GLikely pathogenic
Select item 324250	NM_001321120.2(TBX4):c.335A>G (p.Lys112Arg)	TBX4 (K112R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1341437	NM_001321120.2(TBX4):c.338A>G (p.Tyr113Cys)	TBX4 (Y113C)	Single nucleotide variant (missense variant)	Coxopodopatellar syndrome	Gnot provided
Select item 805945	NM_001321120.2(TBX4):c.339T>A (p.Tyr113Ter)	TBX4 (Y113*)	Single nucleotide variant (nonsense)	Abnormality of prenatal development or birth	GPathogenic
Select item 633610	NM_001321120.2(TBX4):c.355dup (p.Ile119fs)	TBX4 (I119fs)	Duplication (frameshift variant)	Coxopodopatellar syndrome	GPathogenic
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 1341439	NM_001321120.2(TBX4):c.379T>A (p.Tyr127Asn)	TBX4 (Y127N)	Single nucleotide variant (missense variant)	Autosomal recessive amelia	GPathogenic
Select item 1341417	NM_001321120.2(TBX4):c.380A>C (p.Tyr127Ser)	TBX4 (Y127S)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	GLikely pathogenic
Select item 890660	NM_001321120.2(TBX4):c.399A>T (p.Lys133Asn)	TBX4 (K133N)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 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 1188835	NM_001321120.2(TBX4):c.401+3A>T	TBX4	Single nucleotide variant (intron variant)	Coxopodopatellar syndrome	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 1226231	NM_001321120.2(TBX4):c.401+215G>C	TBX4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264449	NM_001321120.2(TBX4):c.401+223G>A	TBX4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261395	NM_001321120.2(TBX4):c.402-155C>T	TBX4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249812	NM_001321120.2(TBX4):c.402-96C>T	TBX4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260169	NM_001321120.2(TBX4):c.402-61G>A	TBX4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 261034	NM_001321120.2(TBX4):c.402-8G>A	TBX4	Single nucleotide variant (intron variant)	Autosomal recessive amelia +3 more	GBenign
Select item 638159	NM_001321120.2(TBX4):c.402G>A (p.Trp134Ter)	TBX4 (W134*)	Single nucleotide variant (nonsense)	Aplasia/hypoplasia involving bones of the lower limbs +5 more	GPathogenic
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 2574400	NM_001321120.2(TBX4):c.445T>A (p.Tyr149Asn)	TBX4 (Y149N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1341444	NM_001321120.2(TBX4):c.455C>T (p.Pro152Leu)	TBX4 (P152L)	Single nucleotide variant (missense variant)	not provided +1 more	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 2252459	NM_001321120.2(TBX4):c.476C>G (p.Ala159Gly)	TBX4 (A159G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1341412	NM_001321120.2(TBX4):c.500_502del (p.Ser167del)	TBX4 (S167del)	Deletion (inframe_deletion)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 1341415	NM_001321120.2(TBX4):c.509AGCTGA[1] (p.170KL[1])	TBX4	Microsatellite (inframe_deletion)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 1341433	NM_001321120.2(TBX4):c.524_527del (p.Asn175fs)	TBX4 (N175fs)	Microsatellite (frameshift variant)	Primary pulmonary hypoplasia	Gnot provided
Select item 800781	NM_001321120.2(TBX4):c.524A>C (p.Asn175Thr)	TBX4 (N175T)	Single nucleotide variant (missense variant)	Coxopodopatellar syndrome	GUncertain significance

<< First< Prev

Page of 3