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Items: 1 to 100 of 1145

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129935164, LOC129935165
+697 more
Copy number loss
See cases
GPathogenic
INPP1, ITGA4
+1097 more
Copy number gain
See cases
GPathogenic
AAMP, ABCA12
+1703 more
Copy number gain
See cases
GPathogenic
LOC129935343, LOC129935344
+1687 more
Copy number gain
See cases
GPathogenic
AAMP, ABCA12
+1665 more
Copy number gain
See cases
GPathogenic
ABCA12, ABI2
+509 more
Copy number loss
See cases
GPathogenic
LOC129935480, LOC129935481
+1299 more
Copy number gain
See cases
GPathogenic
ABI2, ALS2
+279 more
Copy number loss
See cases
GPathogenic
ABI2, ADAM23
+298 more
Copy number loss
See cases
GPathogenic
ABI2, ADAM23
+293 more
Copy number loss
See cases
GPathogenic
LOC129935430, BMPR2
+12 more
Deletion
Pulmonary hypertension, primary, 1
GPathogenic
BMPR2, LOC129935429
+6 more
Deletion
Pulmonary arterial hypertension
GPathogenic
BMPR2, LOC129935429
+6 more
Deletion
(genic upstream transcript variant)
Pulmonary arterial hypertension
GPathogenic
BMPR2, LOC129935432
Duplication
not provided
GBenign
BMPR2, LOC129935432
Single nucleotide variant
(5 prime UTR variant)
Pulmonary hypertension, primary, 1
GUncertain significance
BMPR2, LOC129935432
Single nucleotide variant
(5 prime UTR variant)
Pulmonary hypertension, primary, 1
GUncertain significance
BMPR2, LOC129935432
Microsatellite
(5 prime UTR variant)
not provided
GBenign
BMPR2, LOC129935432
Microsatellite
(5 prime UTR variant)
not provided
GLikely benign
BMPR2, LOC129935432
Microsatellite
(5 prime UTR variant)
not provided
GBenign
BMPR2, LOC129935432
Microsatellite
(5 prime UTR variant)
not provided
+1 more
GBenign/Likely benign
BMPR2, LOC129935432
Microsatellite
(5 prime UTR variant)
BMPR2-related disorder
GLikely benign
BMPR2, LOC129935432
Microsatellite
(5 prime UTR variant)
BMPR2-related disorder
GBenign
BMPR2, LOC129935432
Microsatellite
(5 prime UTR variant)
Pulmonary hypertension, primary, 1
GUncertain significance
BMPR2
Indel
(5 prime UTR variant)
Pulmonary hypertension, primary, 1
GPathogenic
BMPR2
Single nucleotide variant
(5 prime UTR variant)
Pulmonary hypertension, primary, 1
GUncertain significance
BMPR2
Single nucleotide variant
(5 prime UTR variant)
Pulmonary hypertension, primary, 1
GUncertain significance
BMPR2
Microsatellite
(5 prime UTR variant)
Pulmonary hypertension, primary, 1
GLikely benign
BMPR2
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GBenign/Likely benign
BMPR2
Indel
(5 prime UTR variant)
Pulmonary hypertension, primary, 1
GUncertain significance
BMPR2
Single nucleotide variant
(5 prime UTR variant)
Pulmonary arterial hypertension
GBenign
BMPR2
Single nucleotide variant
(5 prime UTR variant)
Pulmonary hypertension, primary, 1
GUncertain significance
BMPR2
Single nucleotide variant
(5 prime UTR variant)
not provided
GLikely benign
BMPR2
Single nucleotide variant
(5 prime UTR variant)
Pulmonary hypertension, primary, 1
GUncertain significance
BMPR2
Single nucleotide variant
(5 prime UTR variant)
Pulmonary hypertension, primary, 1
GUncertain significance
BMPR2
Single nucleotide variant
(5 prime UTR variant)
Pulmonary hypertension, primary, 1
GUncertain significance
BMPR2
Single nucleotide variant
(5 prime UTR variant)
Pulmonary hypertension, primary, 1
GBenign
BMPR2
Single nucleotide variant
(5 prime UTR variant)
Pulmonary hypertension, primary, 1
GUncertain significance
BMPR2, LOC129935434
Single nucleotide variant
(5 prime UTR variant)
Pulmonary arterial hypertension
GBenign
BMPR2
Single nucleotide variant
(5 prime UTR variant)
Primary pulmonary hypertension
+1 more
GUncertain significance
BMPR2
Single nucleotide variant
(5 prime UTR variant)
Pulmonary hypertension, primary, 1
GUncertain significance
LOC129935436, BMPR2
+1 more
Deletion
Pulmonary hypertension, primary, 1
GPathogenic
BMPR2, LOC129935435
Deletion
Pulmonary hypertension, primary, 1
GPathogenic
BMPR2
Single nucleotide variant
(5 prime UTR variant)
Pulmonary hypertension, primary, 1
+1 more
GUncertain significance
BMPR2
Single nucleotide variant
(5 prime UTR variant)
Pulmonary hypertension, primary, 1
GUncertain significance
BMPR2
Single nucleotide variant
(5 prime UTR variant)
Pulmonary hypertension, primary, 1
+1 more
GUncertain significance
BMPR2
Single nucleotide variant
(5 prime UTR variant)
Pulmonary hypertension, primary, 1
GUncertain significance
BMPR2
Single nucleotide variant
(5 prime UTR variant)
Pulmonary hypertension, primary, 1
GUncertain significance
BMPR2
Single nucleotide variant
(5 prime UTR variant)
Pulmonary hypertension, primary, 1
GLikely benign
BMPR2
Single nucleotide variant
(5 prime UTR variant)
Pulmonary hypertension, primary, 1
+4 more
GBenign/Likely benign
BMPR2
Duplication
(5 prime UTR variant)
not provided
+1 more
GBenign/Likely benign
BMPR2
Single nucleotide variant
(5 prime UTR variant)
Pulmonary arterial hypertension
GLikely benign
BMPR2
Single nucleotide variant
(5 prime UTR variant)
Pulmonary hypertension, primary, 1
GUncertain significance
BMPR2
Deletion
Idiopathic and/or familial pulmonary arterial hypertension
GPathogenic
BMPR2, LOC129935435
+1 more
Deletion
Pulmonary hypertension, primary, 1
GPathogenic
BMPR2, LOC129935435
Deletion
Pulmonary hypertension, primary, 1
GPathogenic
BMPR2, LOC129935435
Deletion
Pulmonary hypertension, primary, 1
GPathogenic
BMPR2, LOC129935435
Deletion
Pulmonary hypertension, primary, 1
GPathogenic
BMPR2, LOC129935435
Deletion
Pulmonary hypertension, primary, 1
GPathogenic
BMPR2
(S4fs)
Duplication
(frameshift variant)
Pulmonary hypertension, primary, 1
GPathogenic
BMPR2
Single nucleotide variant
(synonymous variant)
Pulmonary hypertension, primary, 1
+2 more
GBenign
BMPR2
(L5fs)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
BMPR2
(L5P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BMPR2
(Q6fs)
Deletion
(frameshift variant)
Pulmonary hypertension, primary, 1
GPathogenic
BMPR2
(Q6*)
Single nucleotide variant
(nonsense)
Pulmonary hypertension, primary, 1
GPathogenic
BMPR2
(R7fs)
Deletion
(frameshift variant)
Pulmonary arterial hypertension
GPathogenic
BMPR2
(W9fs)
Deletion
(frameshift variant)
Pulmonary hypertension, primary, 1
GPathogenic
BMPR2
(P8fs)
Indel
(frameshift variant)
Pulmonary hypertension, primary, 1
GPathogenic
BMPR2
(W9fs)
Deletion
(frameshift variant)
Pulmonary arterial hypertension
GPathogenic
BMPR2
(W9*)
Single nucleotide variant
(nonsense)
Pulmonary hypertension, primary, 1
+1 more
GPathogenic
BMPR2
(R10W)
Single nucleotide variant
(missense variant)
Pulmonary hypertension, primary, 1
GPathogenic
BMPR2
(R10Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
BMPR2
Single nucleotide variant
(synonymous variant)
Primary pulmonary hypertension
GLikely benign
BMPR2
(W13*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
BMPR2
(W13*)
Single nucleotide variant
(nonsense)
Pulmonary hypertension, primary, 1
GPathogenic
BMPR2
(P15fs)
Deletion
(frameshift variant)
Pulmonary venoocclusive disease 1
+1 more
GPathogenic
BMPR2
Single nucleotide variant
(synonymous variant)
Primary pulmonary hypertension
GLikely benign
BMPR2
(W16*)
Single nucleotide variant
(nonsense)
Pulmonary hypertension, primary, 1
GPathogenic
BMPR2
(W16*)
Single nucleotide variant
(nonsense)
BMPR2-related disorder
+2 more
GPathogenic
BMPR2, LOC129935435
Deletion
Pulmonary hypertension, primary, 1
GPathogenic
BMPR2
Single nucleotide variant
(synonymous variant)
Pulmonary hypertension, primary, 1
+2 more
GBenign/Likely benign
BMPR2
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign/Likely benign
BMPR2
(T23A)
Single nucleotide variant
(missense variant)
Primary pulmonary hypertension
GBenign
BMPR2
(T23I)
Single nucleotide variant
(missense variant)
Primary pulmonary hypertension
GBenign
BMPR2
(A24E)
Single nucleotide variant
(missense variant)
Pulmonary hypertension, primary, 1
GPathogenic
BMPR2
Single nucleotide variant
(splice donor variant)
Pulmonary arterial hypertension
GLikely pathogenic
BMPR2, LOC129935435
+1 more
Deletion
Pulmonary hypertension, primary, 1
GPathogenic
BMPR2
Single nucleotide variant
(splice donor variant)
Pulmonary hypertension, primary, 1
GPathogenic
BMPR2
Single nucleotide variant
(splice donor variant)
Primary pulmonary hypertension
GPathogenic
BMPR2
Single nucleotide variant
(splice donor variant)
Pulmonary arterial hypertension
GLikely pathogenic
BMPR2
Single nucleotide variant
(splice donor variant)
Pulmonary hypertension, primary, 1
GPathogenic
BMPR2
Single nucleotide variant
(intron variant)
Pulmonary hypertension, primary, 1
+1 more
GPathogenic/Likely pathogenic
BMPR2
Single nucleotide variant
(intron variant)
Primary pulmonary hypertension
GLikely benign
BMPR2
Single nucleotide variant
(intron variant)
Primary pulmonary hypertension
GLikely benign
BMPR2
Copy number loss
See cases
GUncertain significance
BMPR2, LOC129935436
+1 more
Copy number loss
See cases
GPathogenic
BMPR2
Deletion
(splice acceptor variant +1 more)
Pulmonary arterial hypertension
GPathogenic
BMPR2
Deletion
(splice acceptor variant +1 more)
Pulmonary arterial hypertension
GLikely pathogenic
BMPR2
Deletion
(splice acceptor variant)
Pulmonary hypertension, primary, 1
GPathogenic
BMPR2
Single nucleotide variant
(intron variant)
Primary pulmonary hypertension
GUncertain significance
BMPR2
Indel
(splice acceptor variant)
Primary pulmonary hypertension
GLikely pathogenic
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