ClinVar for MedGen (Select 333474) - ClinVar

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Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3061910	NM_001321120.2(TBX4):c.549+1G>A	TBX4	Single nucleotide variant (splice donor variant)	Coxopodopatellar syndrome	GPathogenic
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 1992375	NM_001321120.2(TBX4):c.271A>G (p.Lys91Glu)	TBX4 (K91E)	Single nucleotide variant (missense variant)	Coxopodopatellar syndrome	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 1341445	NM_001321120.2(TBX4):c.748C>T (p.Arg250Trp)	TBX4 (R250W)	Single nucleotide variant (missense variant)	not provided	GPathogenic
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 1341437	NM_001321120.2(TBX4):c.338A>G (p.Tyr113Cys)	TBX4 (Y113C)	Single nucleotide variant (missense variant)	Coxopodopatellar syndrome	Gnot provided
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 1341420	NM_001321120.2(TBX4):c.1167dup (p.Arg390fs)	TBX4 (R389fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1341419	NM_001321120.2(TBX4):c.113dup (p.Leu39fs)	TBX4 (L39fs)	Duplication (frameshift variant)	Coxopodopatellar syndrome	Gnot provided
Select item 1341409	NM_001321120.2(TBX4):c.932C>A (p.Ser311Ter)	TBX4 (S311*)	Single nucleotide variant (nonsense)	Coxopodopatellar syndrome	Gnot provided
Select item 1341408	NM_001321120.2(TBX4):c.901C>T (p.Gln301Ter)	TBX4 (Q301*)	Single nucleotide variant (nonsense)	Coxopodopatellar syndrome	Gnot provided
Select item 1341407	NM_001321120.2(TBX4):c.1065T>G (p.Tyr355Ter)	TBX4 (Y354* +1 more)	Single nucleotide variant (nonsense)	Coxopodopatellar syndrome	Gnot provided
Select item 1341404	NM_001321120.2(TBX4):c.781C>T (p.Arg261Ter)	TBX4 (R261*)	Single nucleotide variant (nonsense)	Coxopodopatellar syndrome	GPathogenic
Select item 1327321	NM_001321120.2(TBX4):c.1021+1G>A	TBX4	Single nucleotide variant (splice donor variant)	Coxopodopatellar syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1188835	NM_001321120.2(TBX4):c.401+3A>T	TBX4	Single nucleotide variant (intron variant)	Coxopodopatellar syndrome	GUncertain significance
Select item 1185696	NM_001321120.2(TBX4):c.292C>G (p.Pro98Ala)	TBX4 (P98A)	Single nucleotide variant (missense variant)	Coxopodopatellar syndrome +1 more	GConflicting classifications of pathogenicity
Select item 982403	NM_001321120.2(TBX4):c.979C>T (p.Gln327Ter)	TBX4 (Q327*)	Single nucleotide variant (nonsense)	Coxopodopatellar syndrome	GLikely pathogenic
Select item 975902	NM_001321120.2(TBX4):c.1090del (p.Glu364fs)	TBX4 (E363fs +1 more)	Deletion (frameshift variant)	Coxopodopatellar syndrome	GUncertain significance
Select item 891956	NM_001321120.2(TBX4):c.*759A>G	TBX4	Single nucleotide variant (3 prime UTR variant)	Coxopodopatellar syndrome	GBenign
Select item 891902	NM_001321120.2(TBX4):c.1105C>T (p.Arg369Cys)	TBX4 (R369C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 891901	NM_001321120.2(TBX4):c.791+11G>T	TBX4	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 890717	NM_001321120.2(TBX4):c.*607G>T	TBX4	Single nucleotide variant (3 prime UTR variant)	Coxopodopatellar syndrome	GUncertain significance
Select item 890716	NM_001321120.2(TBX4):c.*428G>A	TBX4	Single nucleotide variant (3 prime UTR variant)	Coxopodopatellar syndrome	GUncertain significance
Select item 890715	NM_001321120.2(TBX4):c.*409G>A	TBX4	Single nucleotide variant (3 prime UTR variant)	Coxopodopatellar syndrome	GUncertain significance
Select item 890662	NM_001321120.2(TBX4):c.658C>A (p.Pro220Thr)	TBX4 (P220T)	Single nucleotide variant (missense variant)	Coxopodopatellar syndrome	GUncertain significance
Select item 890661	NM_001321120.2(TBX4):c.595G>A (p.Val199Ile)	TBX4 (V199I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 890137	NM_001321120.2(TBX4):c.*8G>A	TBX4	Single nucleotide variant (3 prime UTR variant)	Coxopodopatellar syndrome	GBenign
Select item 890083	NM_001321120.2(TBX4):c.150C>T (p.Pro50=)	TBX4	Single nucleotide variant (synonymous variant)	Coxopodopatellar syndrome	GUncertain significance
Select item 889451	NM_001321120.2(TBX4):c.1401A>G (p.Pro467=)	TBX4	Single nucleotide variant (synonymous variant)	Coxopodopatellar syndrome	GUncertain significance
Select item 889450	NM_001321120.2(TBX4):c.1277C>T (p.Pro426Leu)	TBX4 (P426L +1 more)	Single nucleotide variant (missense variant)	Coxopodopatellar syndrome +1 more	GUncertain significance
Select item 889449	NM_001321120.2(TBX4):c.1215G>T (p.Val405=)	TBX4	Single nucleotide variant (synonymous variant)	Coxopodopatellar syndrome	GUncertain significance
Select item 889448	NM_001321120.2(TBX4):c.1109C>A (p.Ser370Tyr)	TBX4 (S370Y +1 more)	Single nucleotide variant (missense variant)	Coxopodopatellar syndrome	GUncertain significance
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 812880	NM_001321120.2(TBX4):c.1115dup (p.Pro373fs)	TBX4 (P373fs +1 more)	Duplication (frameshift variant)	Coxopodopatellar syndrome +1 more	GPathogenic/Likely pathogenic
Select item 807511	NM_001321120.2(TBX4):c.281+1G>T	TBX4	Single nucleotide variant (splice donor variant)	Coxopodopatellar syndrome	GPathogenic
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 800781	NM_001321120.2(TBX4):c.524A>C (p.Asn175Thr)	TBX4 (N175T)	Single nucleotide variant (missense variant)	Coxopodopatellar syndrome	GUncertain significance
Select item 800705	NM_001321120.2(TBX4):c.792-1G>C	TBX4	Single nucleotide variant (splice acceptor variant)	Pulmonary hypertension, primary, 1	GLikely pathogenic
Select item 800704	NM_001321120.2(TBX4):c.1057C>T (p.Arg353Ter)	TBX4 (R352* +1 more)	Single nucleotide variant (nonsense)	Coxopodopatellar syndrome +2 more	GPathogenic
Select item 800703	NM_001321120.2(TBX4):c.251del (p.Gly84fs)	TBX4 (G84fs)	Deletion (frameshift variant)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 718370	NM_001321120.2(TBX4):c.1113C>G (p.Pro371=)	TBX4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
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 633610	NM_001321120.2(TBX4):c.355dup (p.Ile119fs)	TBX4 (I119fs)	Duplication (frameshift variant)	Coxopodopatellar syndrome	GPathogenic
Select item 548695	NM_001321120.2(TBX4):c.538_547del (p.Pro180fs)	TBX4 (P180fs)	Deletion (frameshift variant)	Coxopodopatellar syndrome +1 more	GLikely pathogenic
Select item 324286	NM_001321120.2(TBX4):c.*766A>C	TBX4	Single nucleotide variant (3 prime UTR variant)	Coxopodopatellar syndrome	GBenign
Select item 324285	NM_001321120.2(TBX4):c.*722C>A	TBX4	Single nucleotide variant (3 prime UTR variant)	Coxopodopatellar syndrome	GBenign
Select item 324284	NM_001321120.2(TBX4):c.*707G>T	TBX4	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 324283	NM_001321120.2(TBX4):c.*661G>A	TBX4	Single nucleotide variant (3 prime UTR variant)	Coxopodopatellar syndrome	GUncertain significance
Select item 324282	NM_001321120.2(TBX4):c.*627T>C	TBX4	Single nucleotide variant (3 prime UTR variant)	Coxopodopatellar syndrome	GUncertain significance
Select item 324281	NM_001321120.2(TBX4):c.*383G>T	TBX4	Single nucleotide variant (3 prime UTR variant)	Coxopodopatellar syndrome	GUncertain significance
Select item 324280	NM_001321120.2(TBX4):c.*327G>A	TBX4	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 324279	NM_001321120.2(TBX4):c.*313A>C	TBX4	Single nucleotide variant (3 prime UTR variant)	Coxopodopatellar syndrome	GLikely benign
Select item 324278	NM_001321120.2(TBX4):c.*252G>C	TBX4	Single nucleotide variant (3 prime UTR variant)	Coxopodopatellar syndrome	GUncertain significance
Select item 324277	NM_001321120.2(TBX4):c.*138A>G	TBX4	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 324276	NM_001321120.2(TBX4):c.*137TA[1]	TBX4	Microsatellite (3 prime UTR variant)	Coxopodopatellar syndrome	GUncertain significance
Select item 324275	NM_001321120.2(TBX4):c.136_139del	TBX4	Deletion (3 prime UTR variant)	Coxopodopatellar syndrome	GUncertain significance
Select item 324274	NM_001321120.2(TBX4):c.*99T>A	TBX4	Single nucleotide variant (3 prime UTR variant)	Coxopodopatellar syndrome	GBenign
Select item 324273	NM_001321120.2(TBX4):c.*98GT[18]	TBX4	Microsatellite (3 prime UTR variant)	Coxopodopatellar syndrome +1 more	GUncertain significance
Select item 324272	NM_001321120.2(TBX4):c.*98GT[27]	TBX4	Microsatellite (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 324271	NM_001321120.2(TBX4):c.*98GT[26]	TBX4	Microsatellite (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 324270	NM_001321120.2(TBX4):c.*98GT[25]	TBX4	Microsatellite (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 324269	NM_001321120.2(TBX4):c.*98GT[24]	TBX4	Microsatellite (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 324268	NM_001321120.2(TBX4):c.*98GT[21]	TBX4	Microsatellite (3 prime UTR variant)	not provided +1 more	GBenign
Select item 324267	NM_001321120.2(TBX4):c.*25G>A	TBX4	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 324266	NM_001321120.2(TBX4):c.*7C>T	TBX4	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 324265	NM_001321120.2(TBX4):c.1623G>A (p.Glu541=)	TBX4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 324264	NM_001321120.2(TBX4):c.1524G>A (p.Ser508=)	TBX4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 324263	NM_001321120.2(TBX4):c.1515G>A (p.Lys505=)	TBX4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 324262	NM_001321120.2(TBX4):c.1227C>T (p.Asp409=)	TBX4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 324261	NM_001321120.2(TBX4):c.1217C>G (p.Ser406Cys)	TBX4 (S405C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 324260	NM_001321120.2(TBX4):c.1158G>A (p.Glu386=)	TBX4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 324259	NM_001321120.2(TBX4):c.1086G>C (p.Val362=)	TBX4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 324258	NM_001321120.2(TBX4):c.1073C>T (p.Ala358Val)	TBX4 (A357V +1 more)	Single nucleotide variant (missense variant)	Coxopodopatellar syndrome	GLikely benign
Select item 324257	NM_001321120.2(TBX4):c.1005C>T (p.His335=)	TBX4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 324256	NM_001321120.2(TBX4):c.932C>T (p.Ser311Leu)	TBX4 (S311L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 324255	NM_001321120.2(TBX4):c.921C>T (p.Asn307=)	TBX4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 324254	NM_001321120.2(TBX4):c.791+11G>A	TBX4	Single nucleotide variant (intron variant)	Coxopodopatellar syndrome	GBenign
Select item 324253	NM_001321120.2(TBX4):c.759T>A (p.Asp253Glu)	TBX4 (D253E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 324252	NM_001321120.2(TBX4):c.703-8C>T	TBX4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 324251	NM_001321120.2(TBX4):c.622G>A (p.Gly208Ser)	TBX4 (G208S)	Single nucleotide variant (missense variant)	Coxopodopatellar syndrome	GBenign
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 324249	NM_001321120.2(TBX4):c.276T>G (p.Ala92=)	TBX4	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
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 324247	NM_001321120.2(TBX4):c.187-15C>T	TBX4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 324246	NM_001321120.2(TBX4):c.172G>A (p.Ala58Thr)	TBX4 (A58T)	Single nucleotide variant (missense variant)	Coxopodopatellar syndrome	GBenign
Select item 324245	NM_001321120.2(TBX4):c.110C>T (p.Pro37Leu)	TBX4 (P37L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 324244	NM_001321120.2(TBX4):c.108G>T (p.Ala36=)	TBX4	Single nucleotide variant (synonymous variant)	Coxopodopatellar syndrome	GUncertain significance
Select item 324243	NM_001321120.2(TBX4):c.104C>T (p.Ala35Val)	TBX4 (A35V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 324242	NM_001321120.2(TBX4):c.24C>T (p.Ser8=)	TBX4	Single nucleotide variant (synonymous variant)	Coxopodopatellar syndrome	GBenign
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 324240	NM_001321120.2(TBX4):c.16G>A (p.Gly6Ser)	TBX4 (G6S)	Single nucleotide variant (missense variant)	Coxopodopatellar syndrome +1 more	GBenign/Likely benign
Select item 279597	NM_001321120.2(TBX4):c.557T>G (p.Leu186Arg)	TBX4 (L186R)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	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 261034	NM_001321120.2(TBX4):c.402-8G>A	TBX4	Single nucleotide variant (intron variant)	Coxopodopatellar syndrome +3 more	GBenign
Select item 261033	NM_001321120.2(TBX4):c.1449C>T (p.Val483=)	TBX4	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 7857	NM_001321120.2(TBX4):c.1595A>G (p.Gln532Arg)	TBX4 (Q531R +1 more)	Single nucleotide variant (missense variant)	Coxopodopatellar syndrome	GPathogenic
Select item 7856	NM_001321120.2(TBX4):c.184C>T (p.Gln62Ter)	TBX4 (Q62*)	Single nucleotide variant (nonsense)	Coxopodopatellar syndrome	GPathogenic
Select item 7855	NM_001321120.2(TBX4):c.743G>T (p.Gly248Val)	TBX4 (G248V)	Single nucleotide variant (missense variant)	Coxopodopatellar syndrome	GPathogenic

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Items: 100