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Links from MedGen

Items: 54

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BMPR2
(T628A)
Single nucleotide variant
(missense variant)
Pulmonary arterial hypertension
GUncertain significance
BMPR2
Single nucleotide variant
(synonymous variant)
Pulmonary hypertension, primary, 1
+2 more
GLikely benign
BMPR2
(R842S)
Single nucleotide variant
(missense variant)
Primary pulmonary hypertension
+2 more
GConflicting classifications of pathogenicity
BMPR2
(A328V)
Single nucleotide variant
(missense variant)
Primary pulmonary hypertension
+2 more
GUncertain significance
BMPR2
Deletion
(frameshift variant)
Pulmonary venoocclusive disease 1
GLikely pathogenic
BMPR2
Single nucleotide variant
(splice acceptor variant)
Pulmonary venoocclusive disease 1
GPathogenic
BMPR2
(T346N)
Single nucleotide variant
(missense variant)
Pulmonary arterial hypertension
GLikely benign
BMPR2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GLikely benign
BMPR2
Single nucleotide variant
(3 prime UTR variant)
Pulmonary hypertension, primary, 1
+1 more
GUncertain significance
BMPR2
Single nucleotide variant
(3 prime UTR variant)
Pulmonary hypertension, primary, 1
+1 more
GUncertain significance
BMPR2
(R529H)
Single nucleotide variant
(missense variant)
Pulmonary hypertension, primary, 1
+1 more
GUncertain significance
BMPR2
Single nucleotide variant
(5 prime UTR variant)
Pulmonary hypertension, primary, 1
+1 more
GUncertain significance
BMPR2
Single nucleotide variant
(3 prime UTR variant)
Pulmonary hypertension, primary, 1
+1 more
GUncertain significance
BMPR2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GBenign/Likely benign
BMPR2
Single nucleotide variant
(3 prime UTR variant)
Pulmonary hypertension, primary, 1
+1 more
GUncertain significance
BMPR2
Single nucleotide variant
(synonymous variant)
Pulmonary hypertension, primary, 1
+2 more
GBenign/Likely benign
BMPR2
Single nucleotide variant
(synonymous variant)
Pulmonary hypertension, primary, 1
+2 more
GLikely benign
BMPR2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+4 more
GBenign/Likely benign
EIF2AK4
(I1533fs)
Deletion
(frameshift variant)
Pulmonary venoocclusive disease 1
GLikely pathogenic
BMPR2
(E785K)
Single nucleotide variant
(missense variant)
Primary pulmonary hypertension
+3 more
GConflicting classifications of pathogenicity
BMPR2
Single nucleotide variant
(splice donor variant)
Pulmonary hypertension, primary, 1
+2 more
GPathogenic/Likely pathogenic
BMPR2
(R584*)
Single nucleotide variant
(nonsense)
Pulmonary hypertension, primary, 1
+1 more
GPathogenic
BMPR2
(M506V)
Single nucleotide variant
(missense variant)
Pulmonary arterial hypertension
GUncertain significance
BMPR2
(W414*)
Single nucleotide variant
(nonsense)
Pulmonary hypertension, primary, 1
+1 more
GLikely pathogenic
BMPR2
Deletion
(nonsense)
Pulmonary venoocclusive disease 1
GPathogenic
BMPR2
(R303H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
BMPR2
Microsatellite
(frameshift variant)
Pulmonary hypertension, primary, 1
+3 more
GPathogenic/Likely pathogenic
BMPR2
Single nucleotide variant
(intron variant)
Pulmonary arterial hypertension
GPathogenic
BMPR2
(E503D)
Single nucleotide variant
(missense variant)
Pulmonary arterial hypertension
GLikely benign
BMPR2
(W466*)
Single nucleotide variant
(nonsense)
Primary pulmonary hypertension
+2 more
GPathogenic
BMPR2
Single nucleotide variant
(3 prime UTR variant)
Pulmonary hypertension, primary, 1
+1 more
GUncertain significance
BMPR2
Single nucleotide variant
(3 prime UTR variant)
Pulmonary hypertension, primary, 1
+1 more
GUncertain significance
BMPR2
Single nucleotide variant
(3 prime UTR variant)
Pulmonary venoocclusive disease 1
+1 more
GUncertain significance
BMPR2
Single nucleotide variant
(3 prime UTR variant)
Pulmonary hypertension, primary, 1
+1 more
GUncertain significance
BMPR2
Single nucleotide variant
(3 prime UTR variant)
Pulmonary hypertension, primary, 1
+1 more
GUncertain significance
BMPR2
Single nucleotide variant
(3 prime UTR variant)
Pulmonary hypertension, primary, 1
+1 more
GUncertain significance
BMPR2
Single nucleotide variant
(3 prime UTR variant)
Pulmonary venoocclusive disease 1
+1 more
GUncertain significance
BMPR2
(R934T)
Single nucleotide variant
(missense variant)
Pulmonary venoocclusive disease 1
+1 more
GLikely benign
BMPR2
Single nucleotide variant
(5 prime UTR variant)
not provided
+4 more
GBenign/Likely benign
BMPR2
Single nucleotide variant
(5 prime UTR variant)
Pulmonary hypertension, primary, 1
+1 more
GUncertain significance
BMPR2, LOC129935434
Single nucleotide variant
(5 prime UTR variant)
Pulmonary arterial hypertension
GBenign
BMPR2
(R213*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
BMPR2
(Q92H)
Single nucleotide variant
(missense variant)
Primary pulmonary hypertension
+3 more
GConflicting classifications of pathogenicity
BMPR2
(R147*)
Single nucleotide variant
(nonsense)
Primary pulmonary hypertension
+3 more
GPathogenic
BMPR2
(I46V)
Single nucleotide variant
(missense variant)
Pulmonary hypertension, primary, 1
+2 more
GUncertain significance
BMPR2
Single nucleotide variant
(synonymous variant)
not specified
+5 more
GBenign/Likely benign
BMPR2
(E195*)
Single nucleotide variant
(nonsense)
Pulmonary venoocclusive disease 1
GPathogenic
BMPR2
(N202Y)
Single nucleotide variant
(missense variant)
Pulmonary venoocclusive disease 1
+1 more
GConflicting classifications of pathogenicity
BMPR2
Deletion
Pulmonary venoocclusive disease 1
+1 more
GPathogenic
BMPR2
(Y40*)
Single nucleotide variant
(nonsense)
Pulmonary venoocclusive disease 1
GPathogenic
BMPR2
(P15fs)
Deletion
(frameshift variant)
Pulmonary venoocclusive disease 1
+1 more
GPathogenic
BMPR2
(R211*)
Single nucleotide variant
(nonsense)
Primary pulmonary hypertension
+3 more
GPathogenic
BMPR2
(R491Q)
Single nucleotide variant
(missense variant)
Pulmonary arterial hypertension
GPathogenic
BMPR2
(R899*)
Single nucleotide variant
(nonsense)
Primary pulmonary hypertension
+3 more
GPathogenic
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