ClinVar for MedGen (Select 333474) - ClinVar

Links from MedGen

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)	not provided +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	GUncertain significance
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)	Coxopodopatellar syndrome +1 more	GLikely benign
Select item 891901	NM_001321120.2(TBX4):c.791+11G>T	TBX4	Single nucleotide variant (intron variant)	Coxopodopatellar syndrome +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)	Coxopodopatellar syndrome +1 more	GBenign/Likely benign
Select item 890660	NM_001321120.2(TBX4):c.399A>T (p.Lys133Asn)	TBX4 (K133N)	Single nucleotide variant (missense variant)	Coxopodopatellar syndrome +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)	not provided +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)	not provided +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)	Coxopodopatellar syndrome +1 more	GBenign/Likely benign
Select item 638159	NM_001321120.2(TBX4):c.402G>A (p.Trp134Ter)	TBX4 (W134*)	Single nucleotide variant (nonsense)	Absence of the sacrum +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)	Pulmonary arterial hypertension associated with congenital heart disease +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)	Coxopodopatellar syndrome +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)	Coxopodopatellar syndrome +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)	Coxopodopatellar syndrome +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)	not provided +1 more	GUncertain significance
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 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)	Coxopodopatellar syndrome +1 more	GBenign/Likely benign
Select item 324264	NM_001321120.2(TBX4):c.1524G>A (p.Ser508=)	TBX4	Single nucleotide variant (synonymous variant)	Coxopodopatellar syndrome +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)	Coxopodopatellar syndrome +1 more	GBenign
Select item 324261	NM_001321120.2(TBX4):c.1217C>G (p.Ser406Cys)	TBX4 (S405C +1 more)	Single nucleotide variant (missense variant)	Coxopodopatellar syndrome +1 more	GBenign/Likely benign
Select item 324260	NM_001321120.2(TBX4):c.1158G>A (p.Glu386=)	TBX4	Single nucleotide variant (synonymous variant)	Coxopodopatellar syndrome +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)	Coxopodopatellar syndrome +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)	not specified +3 more	GBenign
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 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 100