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Items: 1 to 100 of 462

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACVRL1
Deletion
Telangiectasia, hereditary hemorrhagic, type 2
GPathogenic
ACVRL1
(R7fs)
Duplication
(frameshift variant)
Cardiovascular phenotype
GPathogenic
ACVRL1
(L13fs)
Deletion
(frameshift variant)
Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
GPathogenic
ACVRL1
(M15fs)
Duplication
(frameshift variant)
Telangiectasia, hereditary hemorrhagic, type 2
GPathogenic
ACVRL1
(L17fs)
Duplication
(frameshift variant)
Telangiectasia, hereditary hemorrhagic, type 2
GPathogenic
ACVRL1
(T19fs)
Duplication
(frameshift variant)
Telangiectasia, hereditary hemorrhagic, type 2
GLikely pathogenic
ACVRL1
(Q20*)
Single nucleotide variant
(nonsense)
Telangiectasia, hereditary hemorrhagic, type 2
GPathogenic
ACVRL1
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GLikely pathogenic
ACVRL1
Single nucleotide variant
(splice donor variant)
Telangiectasia, hereditary hemorrhagic, type 2
GLikely pathogenic
ACVRL1
Indel
(splice acceptor variant)
Cardiovascular phenotype
GLikely pathogenic
ACVRL1
Deletion
Telangiectasia, hereditary hemorrhagic, type 2
GPathogenic
ACVRL1
(D22fs)
Deletion
(frameshift variant)
Cardiovascular phenotype
GPathogenic
ACVRL1
(P23fs)
Deletion
(frameshift variant)
Telangiectasia, hereditary hemorrhagic, type 2
GPathogenic
ACVRL1
(V24fs)
Deletion
(frameshift variant)
Cardiovascular phenotype
GPathogenic
ACVRL1
(K25fs)
Deletion
(frameshift variant)
Telangiectasia, hereditary hemorrhagic, type 2
GPathogenic
ACVRL1
(K25*)
Single nucleotide variant
(nonsense)
Cardiovascular phenotype
GPathogenic
ACVRL1
Indel
(nonsense +1 more)
Cardiovascular phenotype
+1 more
GPathogenic
ACVRL1
(S27fs)
Deletion
(frameshift variant)
Telangiectasia, hereditary hemorrhagic, type 2
GPathogenic
ACVRL1
(G29fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
ACVRL1
(C34fs)
Duplication
(frameshift variant)
Cardiovascular phenotype
GPathogenic
ACVRL1
(C34R)
Single nucleotide variant
(missense variant)
Telangiectasia, hereditary hemorrhagic, type 2
GPathogenic
ACVRL1
(C34Y)
Single nucleotide variant
(missense variant)
Telangiectasia, hereditary hemorrhagic, type 2
+1 more
GPathogenic
ACVRL1
(C34*)
Single nucleotide variant
(nonsense)
Cardiovascular phenotype
+1 more
GPathogenic
ACVRL1
(C36fs)
Deletion
(frameshift variant)
Telangiectasia, hereditary hemorrhagic, type 2
GPathogenic
ACVRL1
(C36R)
Single nucleotide variant
(missense variant)
Telangiectasia, hereditary hemorrhagic, type 2
GLikely pathogenic
ACVRL1
(P39fs)
Deletion
(frameshift variant)
Telangiectasia, hereditary hemorrhagic, type 2
+1 more
GPathogenic
ACVRL1
(C41G)
Single nucleotide variant
(missense variant)
Telangiectasia, hereditary hemorrhagic, type 2
GPathogenic
ACVRL1
(C41Y)
Single nucleotide variant
(missense variant)
Telangiectasia, hereditary hemorrhagic, type 2
GLikely pathogenic
ACVRL1
(P44fs)
Duplication
(frameshift variant)
Telangiectasia, hereditary hemorrhagic, type 2
+1 more
GPathogenic
ACVRL1
(T45fs)
Deletion
(frameshift variant)
Cardiovascular phenotype
GPathogenic
ACVRL1
(P44fs)
Deletion
(frameshift variant)
Cardiovascular phenotype
+1 more
GPathogenic
ACVRL1
(G43fs)
Deletion
(frameshift variant)
Cardiovascular phenotype
GPathogenic
ACVRL1
(P44fs)
Indel
(frameshift variant)
Cardiovascular phenotype
GPathogenic
ACVRL1
(C46fs)
Insertion
(frameshift variant)
Telangiectasia, hereditary hemorrhagic, type 2
GPathogenic
ACVRL1
(C46fs)
Indel
(frameshift variant)
Telangiectasia, hereditary hemorrhagic, type 2
GPathogenic
ACVRL1
(R47fs)
Duplication
(frameshift variant)
Telangiectasia, hereditary hemorrhagic, type 2
+1 more
GPathogenic
ACVRL1
(R47fs)
Insertion
(frameshift variant)
Cardiovascular phenotype
+2 more
GPathogenic
ACVRL1
(A49fs)
Duplication
(frameshift variant)
Cardiovascular phenotype
+3 more
GPathogenic
ACVRL1
(A49fs)
Deletion
(frameshift variant)
Cardiovascular phenotype
+1 more
GPathogenic
ACVRL1
(R47P)
Single nucleotide variant
(missense variant)
Telangiectasia, hereditary hemorrhagic, type 2
+2 more
GPathogenic/Likely pathogenic
ACVRL1
(G48R)
Single nucleotide variant
(missense variant)
Telangiectasia, hereditary hemorrhagic, type 2
GPathogenic
ACVRL1
(G48E)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GPathogenic/Likely pathogenic
ACVRL1
Indel
(missense variant)
Telangiectasia, hereditary hemorrhagic, type 2
GPathogenic
ACVRL1
(W50G)
Single nucleotide variant
(missense variant)
Telangiectasia, hereditary hemorrhagic, type 2
GLikely pathogenic
ACVRL1
(W50R)
Single nucleotide variant
(missense variant)
Hereditary hemorrhagic telangiectasia
+1 more
GLikely pathogenic
ACVRL1
(W50C)
Single nucleotide variant
(missense variant)
Telangiectasia, hereditary hemorrhagic, type 2
GPathogenic
ACVRL1
(W50C)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GPathogenic
ACVRL1
(C51S)
Single nucleotide variant
(missense variant)
Telangiectasia, hereditary hemorrhagic, type 2
GLikely pathogenic
ACVRL1
(C51Y)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GPathogenic
ACVRL1
(T52P)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GLikely pathogenic
ACVRL1
(R61fs)
Duplication
(frameshift variant)
Cardiovascular phenotype
GPathogenic
ACVRL1
(R61fs)
Deletion
(frameshift variant +1 more)
Telangiectasia, hereditary hemorrhagic, type 2
GLikely pathogenic
ACVRL1
(R61fs)
Deletion
(frameshift variant)
Cardiovascular phenotype
+1 more
GPathogenic
ACVRL1
(Q64fs)
Deletion
(frameshift variant)
Telangiectasia, hereditary hemorrhagic, type 2
GPathogenic
ACVRL1
(E65fs)
Duplication
(frameshift variant +1 more)
Telangiectasia, hereditary hemorrhagic, type 2
GPathogenic
ACVRL1
(Q64*)
Single nucleotide variant
(nonsense)
Telangiectasia, hereditary hemorrhagic, type 2
GPathogenic
ACVRL1
(E65fs)
Deletion
(frameshift variant)
Telangiectasia, hereditary hemorrhagic, type 2
+1 more
GPathogenic
ACVRL1
(E65*)
Single nucleotide variant
(nonsense)
Telangiectasia, hereditary hemorrhagic, type 2
+1 more
GPathogenic
ACVRL1
(R67fs)
Deletion
(frameshift variant +1 more)
Telangiectasia, hereditary hemorrhagic, type 2
GPathogenic
ACVRL1
(R67G)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
ACVRL1
(R67W)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GPathogenic/Likely pathogenic
ACVRL1
(R67P)
Single nucleotide variant
(missense variant)
Telangiectasia, hereditary hemorrhagic, type 1
GLikely pathogenic
ACVRL1
(R67Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
ACVRL1
(C69G)
Single nucleotide variant
(missense variant +1 more)
Telangiectasia, hereditary hemorrhagic, type 2
GLikely pathogenic
ACVRL1
(C69R)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GPathogenic
ACVRL1
(C69Y)
Single nucleotide variant
(missense variant)
Telangiectasia, hereditary hemorrhagic, type 2
GPathogenic
ACVRL1
(C69F)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ACVRL1
(C69*)
Single nucleotide variant
(nonsense)
Cardiovascular phenotype
+1 more
GPathogenic
ACVRL1
(L72fs)
Indel
(frameshift variant)
Cardiovascular phenotype
GPathogenic
ACVRL1
(E75fs)
Deletion
(frameshift variant)
Telangiectasia, hereditary hemorrhagic, type 2
GPathogenic
ACVRL1
(E75*)
Single nucleotide variant
(nonsense)
Telangiectasia, hereditary hemorrhagic, type 2
GPathogenic
ACVRL1
(C77R)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GLikely pathogenic
ACVRL1
(C77W)
Single nucleotide variant
(missense variant)
Telangiectasia, hereditary hemorrhagic, type 2
GPathogenic
ACVRL1
(R80fs)
Duplication
(frameshift variant)
Telangiectasia, hereditary hemorrhagic, type 2
GPathogenic
ACVRL1
(R80fs)
Deletion
(frameshift variant)
Telangiectasia, hereditary hemorrhagic, type 2
GPathogenic
ACVRL1
(T82fs)
Insertion
(frameshift variant)
not provided
+1 more
GPathogenic
ACVRL1
(H87fs)
Deletion
(frameshift variant)
Telangiectasia, hereditary hemorrhagic, type 2
GPathogenic
ACVRL1
(Y88*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
ACVRL1
(C89G)
Single nucleotide variant
(missense variant)
Telangiectasia, hereditary hemorrhagic, type 2
GLikely pathogenic
ACVRL1
(C89R)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GPathogenic/Likely pathogenic
ACVRL1
(C89W)
Single nucleotide variant
(missense variant)
Telangiectasia, hereditary hemorrhagic, type 2
GLikely pathogenic
ACVRL1
(C90F)
Single nucleotide variant
(missense variant)
Telangiectasia, hereditary hemorrhagic, type 2
+1 more
GPathogenic/Likely pathogenic
ACVRL1
(C90Y)
Single nucleotide variant
(missense variant)
Telangiectasia, hereditary hemorrhagic, type 2
+2 more
GPathogenic/Likely pathogenic
ACVRL1
(C90W)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GPathogenic/Likely pathogenic
ACVRL1
(C90*)
Single nucleotide variant
(nonsense)
Telangiectasia, hereditary hemorrhagic, type 2
+1 more
GPathogenic/Likely pathogenic
ACVRL1
(D91fs)
Deletion
(frameshift variant)
not specified
GPathogenic
ACVRL1
Deletion
(inframe_deletion +1 more)
Telangiectasia, hereditary hemorrhagic, type 2
GPathogenic
ACVRL1
(N96H)
Single nucleotide variant
(missense variant +1 more)
Telangiectasia, hereditary hemorrhagic, type 2
GPathogenic
ACVRL1
(N96D)
Single nucleotide variant
(missense variant)
Telangiectasia, hereditary hemorrhagic, type 2
GLikely pathogenic
ACVRL1
(N96S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GLikely pathogenic
ACVRL1
(V99fs)
Deletion
(frameshift variant)
not provided
GPathogenic
ACVRL1
Deletion
(splice donor variant +1 more)
Telangiectasia, hereditary hemorrhagic, type 2
GPathogenic
ACVRL1
(L101fs)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
ACVRL1
(E104*)
Single nucleotide variant
(nonsense)
Cardiovascular phenotype
GPathogenic
ACVRL1
Deletion
(splice donor variant)
Cardiovascular phenotype
GLikely pathogenic
ACVRL1
Single nucleotide variant
(splice donor variant +1 more)
Telangiectasia, hereditary hemorrhagic, type 2
GPathogenic
ACVRL1
Single nucleotide variant
(splice donor variant +1 more)
Telangiectasia, hereditary hemorrhagic, type 2
GPathogenic
ACVRL1
Single nucleotide variant
(splice donor variant +1 more)
Telangiectasia, hereditary hemorrhagic, type 2
GPathogenic
ACVRL1
Single nucleotide variant
(splice donor variant +1 more)
Cardiovascular phenotype
GLikely pathogenic
ACVRL1
Deletion
Telangiectasia, hereditary hemorrhagic, type 2
GPathogenic
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