U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 99

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TBX4
(A341T +1 more)
Single nucleotide variant
(missense variant)
Coxopodopatellar syndrome
GUncertain significance
TBX4
(K91E)
Single nucleotide variant
(missense variant)
Coxopodopatellar syndrome
GLikely pathogenic
TBX4
(M1I)
Single nucleotide variant
(missense variant +1 more)
Coxopodopatellar syndrome
GLikely pathogenic
TBX4
(R250W)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
TBX4
(G106S)
Single nucleotide variant
(missense variant)
Pulmonary hypertension, primary, 1
+1 more
GLikely pathogenic
TBX4
(Y113C)
Single nucleotide variant
(missense variant)
Coxopodopatellar syndrome
Gnot provided
TBX4
(M96K)
Single nucleotide variant
(missense variant)
Coxopodopatellar syndrome
Gnot provided
TBX4
(R389fs +1 more)
Duplication
(frameshift variant)
not provided
GPathogenic
TBX4
(L39fs)
Duplication
(frameshift variant)
Coxopodopatellar syndrome
Gnot provided
TBX4
(S311*)
Single nucleotide variant
(nonsense)
Coxopodopatellar syndrome
Gnot provided
TBX4
(Q301*)
Single nucleotide variant
(nonsense)
Coxopodopatellar syndrome
Gnot provided
TBX4
(Y354* +1 more)
Single nucleotide variant
(nonsense)
Coxopodopatellar syndrome
Gnot provided
TBX4
(R261*)
Single nucleotide variant
(nonsense)
Coxopodopatellar syndrome
GPathogenic
TBX4
Single nucleotide variant
(splice donor variant)
Pulmonary hypertension, primary, 1
+2 more
GPathogenic/Likely pathogenic
TBX4
Single nucleotide variant
(intron variant)
Coxopodopatellar syndrome
GUncertain significance
TBX4
(P98A)
Single nucleotide variant
(missense variant)
Coxopodopatellar syndrome
+1 more
GUncertain significance
TBX4
(Q327*)
Single nucleotide variant
(nonsense)
Coxopodopatellar syndrome
GLikely pathogenic
TBX4
(E363fs +1 more)
Deletion
(frameshift variant)
Coxopodopatellar syndrome
GUncertain significance
TBX4
Single nucleotide variant
(3 prime UTR variant)
Coxopodopatellar syndrome
GBenign
TBX4
(R369C +1 more)
Single nucleotide variant
(missense variant)
Coxopodopatellar syndrome
GLikely benign
TBX4
Single nucleotide variant
(intron variant)
Coxopodopatellar syndrome
GUncertain significance
TBX4
Single nucleotide variant
(3 prime UTR variant)
Coxopodopatellar syndrome
GUncertain significance
TBX4
Single nucleotide variant
(3 prime UTR variant)
Coxopodopatellar syndrome
GUncertain significance
TBX4
Single nucleotide variant
(3 prime UTR variant)
Coxopodopatellar syndrome
GUncertain significance
TBX4
(P220T)
Single nucleotide variant
(missense variant)
Coxopodopatellar syndrome
GUncertain significance
TBX4
(V199I)
Single nucleotide variant
(missense variant)
Coxopodopatellar syndrome
+1 more
GBenign/Likely benign
TBX4
(K133N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
TBX4
Single nucleotide variant
(3 prime UTR variant)
Coxopodopatellar syndrome
GBenign
TBX4
Single nucleotide variant
(synonymous variant)
Coxopodopatellar syndrome
GUncertain significance
TBX4
Single nucleotide variant
(synonymous variant)
Coxopodopatellar syndrome
GUncertain significance
TBX4
(P426L +1 more)
Single nucleotide variant
(missense variant)
Coxopodopatellar syndrome
GUncertain significance
TBX4
Single nucleotide variant
(synonymous variant)
Coxopodopatellar syndrome
GUncertain significance
TBX4
(S370Y +1 more)
Single nucleotide variant
(missense variant)
Coxopodopatellar syndrome
GUncertain significance
TBX4
(A16V)
Single nucleotide variant
(missense variant)
Coxopodopatellar syndrome
GUncertain significance
TBX4
(P373fs +1 more)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
TBX4
Single nucleotide variant
(splice donor variant)
Coxopodopatellar syndrome
GPathogenic
TBX4
(Y113*)
Single nucleotide variant
(nonsense)
Abnormality of prenatal development or birth
GPathogenic
TBX4
(N175T)
Single nucleotide variant
(missense variant)
Coxopodopatellar syndrome
GUncertain significance
TBX4
Single nucleotide variant
(splice acceptor variant)
Pulmonary hypertension, primary, 1
GLikely pathogenic
TBX4
(R352* +1 more)
Single nucleotide variant
(nonsense)
Pulmonary hypertension, primary, 1
+2 more
GPathogenic
TBX4
(G84fs)
Deletion
(frameshift variant)
Pulmonary hypertension, primary, 1
GPathogenic
TBX4
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
TBX4
(W134*)
Single nucleotide variant
(nonsense)
Aplasia/hypoplasia involving bones of the lower limbs
+5 more
GPathogenic
TBX4
(I119fs)
Duplication
(frameshift variant)
Coxopodopatellar syndrome
GPathogenic
TBX4
(P180fs)
Deletion
(frameshift variant)
Pulmonary arterial hypertension associated with congenital heart disease
+1 more
GLikely pathogenic
TBX4
Single nucleotide variant
(3 prime UTR variant)
Coxopodopatellar syndrome
GBenign
TBX4
Single nucleotide variant
(3 prime UTR variant)
Coxopodopatellar syndrome
GBenign
TBX4
Single nucleotide variant
(3 prime UTR variant)
Coxopodopatellar syndrome
GBenign
TBX4
Single nucleotide variant
(3 prime UTR variant)
Coxopodopatellar syndrome
GUncertain significance
TBX4
Single nucleotide variant
(3 prime UTR variant)
Coxopodopatellar syndrome
GUncertain significance
TBX4
Single nucleotide variant
(3 prime UTR variant)
Coxopodopatellar syndrome
GUncertain significance
TBX4
Single nucleotide variant
(3 prime UTR variant)
Coxopodopatellar syndrome
GBenign
TBX4
Single nucleotide variant
(3 prime UTR variant)
Coxopodopatellar syndrome
GLikely benign
TBX4
Single nucleotide variant
(3 prime UTR variant)
Coxopodopatellar syndrome
GUncertain significance
TBX4
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
TBX4
Microsatellite
(3 prime UTR variant)
Coxopodopatellar syndrome
GUncertain significance
TBX4
Deletion
(3 prime UTR variant)
Coxopodopatellar syndrome
GUncertain significance
TBX4
Single nucleotide variant
(3 prime UTR variant)
Coxopodopatellar syndrome
GBenign
TBX4
Microsatellite
(3 prime UTR variant)
Coxopodopatellar syndrome
GUncertain significance
TBX4
Microsatellite
(3 prime UTR variant)
Coxopodopatellar syndrome
+1 more
GConflicting classifications of pathogenicity
TBX4
Microsatellite
(3 prime UTR variant)
Coxopodopatellar syndrome
+1 more
GConflicting classifications of pathogenicity
TBX4
Microsatellite
(3 prime UTR variant)
Coxopodopatellar syndrome
+1 more
GConflicting classifications of pathogenicity
TBX4
Microsatellite
(3 prime UTR variant)
Coxopodopatellar syndrome
+1 more
GConflicting classifications of pathogenicity
TBX4
Microsatellite
(3 prime UTR variant)
Coxopodopatellar syndrome
+1 more
GBenign
TBX4
Single nucleotide variant
(3 prime UTR variant)
Coxopodopatellar syndrome
GBenign
TBX4
Single nucleotide variant
(3 prime UTR variant)
Coxopodopatellar syndrome
GBenign
TBX4
Single nucleotide variant
(synonymous variant)
Coxopodopatellar syndrome
+1 more
GBenign/Likely benign
TBX4
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
TBX4
Single nucleotide variant
(synonymous variant)
Coxopodopatellar syndrome
+1 more
GBenign/Likely benign
TBX4
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
TBX4
(S405C +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
TBX4
Single nucleotide variant
(synonymous variant)
Coxopodopatellar syndrome
GBenign
TBX4
Single nucleotide variant
(synonymous variant)
Coxopodopatellar syndrome
+1 more
GBenign/Likely benign
TBX4
(A357V +1 more)
Single nucleotide variant
(missense variant)
Coxopodopatellar syndrome
GLikely benign
TBX4
Single nucleotide variant
(synonymous variant)
Coxopodopatellar syndrome
+1 more
GBenign/Likely benign
TBX4
(S311L)
Single nucleotide variant
(missense variant)
Coxopodopatellar syndrome
+1 more
GBenign
TBX4
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
TBX4
Single nucleotide variant
(intron variant)
Coxopodopatellar syndrome
GBenign
TBX4
(D253E)
Single nucleotide variant
(missense variant)
Coxopodopatellar syndrome
GUncertain significance
TBX4
Single nucleotide variant
(intron variant)
Coxopodopatellar syndrome
+1 more
GBenign/Likely benign
TBX4
(G208S)
Single nucleotide variant
(missense variant)
Coxopodopatellar syndrome
GBenign
TBX4
(K112R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
TBX4
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
TBX4
Single nucleotide variant
(synonymous variant)
Coxopodopatellar syndrome
+1 more
GBenign
TBX4
Single nucleotide variant
(intron variant)
Coxopodopatellar syndrome
GBenign
TBX4
(A58T)
Single nucleotide variant
(missense variant)
Coxopodopatellar syndrome
GBenign
TBX4
(P37L)
Single nucleotide variant
(missense variant)
Coxopodopatellar syndrome
GUncertain significance
TBX4
Single nucleotide variant
(synonymous variant)
Coxopodopatellar syndrome
GUncertain significance
TBX4
(A35V)
Single nucleotide variant
(missense variant)
Coxopodopatellar syndrome
+1 more
GBenign
TBX4
Single nucleotide variant
(synonymous variant)
Coxopodopatellar syndrome
GBenign
TBX4
(G6A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
TBX4
(G6S)
Single nucleotide variant
(missense variant)
Coxopodopatellar syndrome
+1 more
GBenign/Likely benign
TBX4
(L186R)
Single nucleotide variant
(missense variant)
Pulmonary hypertension, primary, 1
GUncertain significance
TBX4
(A314V)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
TBX4
Single nucleotide variant
(intron variant)
Autosomal recessive amelia
+3 more
GBenign
TBX4
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
TBX4
(Q531R +1 more)
Single nucleotide variant
(missense variant)
Coxopodopatellar syndrome
GPathogenic
TBX4
(Q62*)
Single nucleotide variant
(nonsense)
Coxopodopatellar syndrome
GPathogenic
TBX4
(G248V)
Single nucleotide variant
(missense variant)
Coxopodopatellar syndrome
GPathogenic
Format
Items per page
Sort by
Choose Destination