"GeneDx"[submitter] AND "TBX4"[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2663105	NM_001321120.2(TBX4):c.94C>G (p.Pro32Ala)	TBX4 (P32A)	Single nucleotide variant (missense variant)	not provided	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 324249	NM_001321120.2(TBX4):c.276T>G (p.Ala92=)	TBX4	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
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 432517	NM_001321120.2(TBX4):c.295A>G (p.Ser99Gly)	TBX4 (S99G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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)	not specified +3 more	GBenign
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 3373349	NM_001321120.2(TBX4):c.452A>G (p.His151Arg)	TBX4 (H151R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1214651	NM_001321120.2(TBX4):c.569A>C (p.His190Pro)	TBX4 (H190P)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1 +1 more	GConflicting classifications of pathogenicity
Select item 817874	NM_001321120.2(TBX4):c.636del (p.Ala213fs)	TBX4 (A213fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1244818	NM_001321120.2(TBX4):c.702+147C>T	TBX4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286932	NM_001321120.2(TBX4):c.702+201C>T	TBX4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 450470	NM_001321120.2(TBX4):c.709C>T (p.Gln237Ter)	TBX4 (Q237*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3371779	NM_001321120.2(TBX4):c.785T>A (p.Leu262Gln)	TBX4 (L262Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1245768	NM_001321120.2(TBX4):c.792-18T>C	TBX4	Single nucleotide variant (intron variant)	not provided	GBenign
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 261035	NM_001321120.2(TBX4):c.941C>T (p.Ala314Val)	TBX4 (A314V)	Single nucleotide variant (missense variant)	Coxopodopatellar syndrome +2 more	GBenign
Select item 620312	NM_001321120.2(TBX4):c.1018C>T (p.Arg340Ter)	TBX4 (R340*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1327321	NM_001321120.2(TBX4):c.1021+1G>A	TBX4	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1265063	NM_001321120.2(TBX4):c.1021+212C>G	TBX4	Single nucleotide variant (intron variant)	not provided	GBenign
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 324262	NM_001321120.2(TBX4):c.1227C>T (p.Asp409=)	TBX4	Single nucleotide variant (synonymous variant)	Coxopodopatellar syndrome +1 more	GBenign
Select item 889450	NM_001321120.2(TBX4):c.1277C>T (p.Pro426Leu)	TBX4 (P426L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1341431	NM_001321120.2(TBX4):c.1345G>A (p.Ala449Thr)	TBX4 (A448T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 261033	NM_001321120.2(TBX4):c.1449C>T (p.Val483=)	TBX4	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1247097	NM_001321120.2(TBX4):c.*98GT[22]	TBX4	Microsatellite (3 prime UTR variant)	not provided	GBenign
Select item 324272	NM_001321120.2(TBX4):c.*98GT[27]	TBX4	Microsatellite (3 prime UTR variant)	Coxopodopatellar syndrome +1 more	GConflicting classifications of pathogenicity
Select item 324271	NM_001321120.2(TBX4):c.*98GT[26]	TBX4	Microsatellite (3 prime UTR variant)	Coxopodopatellar syndrome +1 more	GConflicting classifications of pathogenicity
Select item 324270	NM_001321120.2(TBX4):c.*98GT[25]	TBX4	Microsatellite (3 prime UTR variant)	Coxopodopatellar syndrome +1 more	GConflicting classifications of pathogenicity
Select item 324269	NM_001321120.2(TBX4):c.*98GT[24]	TBX4	Microsatellite (3 prime UTR variant)	Coxopodopatellar syndrome +1 more	GConflicting classifications of pathogenicity
Select item 324268	NM_001321120.2(TBX4):c.*98GT[21]	TBX4	Microsatellite (3 prime UTR variant)	Coxopodopatellar syndrome +1 more	GBenign
Select item 324277	NM_001321120.2(TBX4):c.*138A>G	TBX4	Single nucleotide variant (3 prime UTR variant)	Coxopodopatellar syndrome +1 more	GBenign
Select item 253549	GRCh37/hg19 17q22-23.3(chr17:56321134-62080001)x3	TANC2, DDX42 +66 more	Copy number gain	See cases	GPathogenic

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Items: 42