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Items: 1 to 100 of 996

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126861648, LOC126861649
+4836 more
Copy number gain
See cases
GPathogenic
ACVRL1, ANKRD33
+206 more
Copy number loss
See cases
GPathogenic
ACVR1B, ACVRL1
+136 more
Copy number loss
See cases
GPathogenic
ACVRL1
Single nucleotide variant
(genic upstream transcript variant)
Telangiectasia, hereditary hemorrhagic, type 2
GBenign
ACVRL1
Single nucleotide variant
(5 prime UTR variant)
Telangiectasia, hereditary hemorrhagic, type 2
GLikely benign
ACVRL1
Single nucleotide variant
(5 prime UTR variant)
Telangiectasia, hereditary hemorrhagic, type 2
GUncertain significance
ACVRL1
Single nucleotide variant
(5 prime UTR variant)
Telangiectasia, hereditary hemorrhagic, type 2
GUncertain significance
ACVRL1
Single nucleotide variant
(5 prime UTR variant)
Telangiectasia, hereditary hemorrhagic, type 2
GUncertain significance
ACVRL1
Single nucleotide variant
(5 prime UTR variant)
Telangiectasia, hereditary hemorrhagic, type 2
GUncertain significance
ACVRL1
Single nucleotide variant
(5 prime UTR variant)
Telangiectasia, hereditary hemorrhagic, type 2
+1 more
GConflicting classifications of pathogenicity
ACVRL1
Single nucleotide variant
(5 prime UTR variant)
Telangiectasia, hereditary hemorrhagic, type 2
+1 more
GBenign
ACVRL1
Single nucleotide variant
(intron variant)
not provided
GBenign
ACVRL1
Single nucleotide variant
(intron variant)
not provided
GBenign
ACVRL1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ACVRL1
Single nucleotide variant
(5 prime UTR variant +1 more)
Telangiectasia, hereditary hemorrhagic, type 2
GUncertain significance
ACVRL1
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
+1 more
GBenign
ACVRL1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
ACVRL1
Deletion
Telangiectasia, hereditary hemorrhagic, type 2
GPathogenic
ACVRL1
Single nucleotide variant
(5 prime UTR variant)
not provided
GUncertain significance
ACVRL1
(T2I)
Single nucleotide variant
(missense variant)
Telangiectasia, hereditary hemorrhagic, type 2
GUncertain significance
ACVRL1
Single nucleotide variant
(synonymous variant)
Telangiectasia, hereditary hemorrhagic, type 2
+1 more
GConflicting classifications of pathogenicity
ACVRL1
(R7fs)
Duplication
(frameshift variant)
Cardiovascular phenotype
GPathogenic
ACVRL1
Single nucleotide variant
(synonymous variant)
Telangiectasia, hereditary hemorrhagic, type 2
GLikely benign
ACVRL1
Single nucleotide variant
(synonymous variant)
Telangiectasia, hereditary hemorrhagic, type 2
GLikely benign
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
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
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
Single nucleotide variant
(intron variant)
Telangiectasia, hereditary hemorrhagic, type 2
GBenign
ACVRL1
Single nucleotide variant
(intron variant)
Telangiectasia, hereditary hemorrhagic, type 2
GLikely benign
ACVRL1
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
ACVRL1
Single nucleotide variant
(intron variant)
not provided
GBenign
ACVRL1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
ACVRL1
Indel
(splice acceptor variant)
Cardiovascular phenotype
GLikely pathogenic
ACVRL1
Deletion
Telangiectasia, hereditary hemorrhagic, type 2
GPathogenic
ACVRL1
Single nucleotide variant
(intron variant)
Telangiectasia, hereditary hemorrhagic, type 2
GLikely benign
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
Single nucleotide variant
(synonymous variant)
Telangiectasia, hereditary hemorrhagic, type 2
GLikely benign
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
(P26L)
Single nucleotide variant
(missense variant)
Telangiectasia, hereditary hemorrhagic, type 2
GLikely benign
ACVRL1
(S27fs)
Deletion
(frameshift variant)
Telangiectasia, hereditary hemorrhagic, type 2
GPathogenic
ACVRL1
Single nucleotide variant
(synonymous variant)
Telangiectasia, hereditary hemorrhagic, type 2
+1 more
GBenign/Likely benign
ACVRL1
(R28W)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
ACVRL1
(G29fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
ACVRL1
Single nucleotide variant
(synonymous variant)
Telangiectasia, hereditary hemorrhagic, type 2
+1 more
GLikely benign
ACVRL1
(P30S)
Single nucleotide variant
(missense variant)
Telangiectasia, hereditary hemorrhagic, type 2
GLikely benign
ACVRL1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GLikely benign
ACVRL1
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
GLikely benign
ACVRL1
(C34fs)
Duplication
(frameshift variant)
Cardiovascular phenotype
GPathogenic
ACVRL1
(C34S)
Single nucleotide variant
(missense variant +1 more)
Telangiectasia, hereditary hemorrhagic, type 2
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
(T35M)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
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
(C36Y)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
ACVRL1
Single nucleotide variant
(synonymous variant)
ACVRL1-related condition
+2 more
GLikely benign
ACVRL1
(S38C)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
ACVRL1
(S38N)
Single nucleotide variant
(missense variant)
Telangiectasia, hereditary hemorrhagic, type 2
GUncertain significance
ACVRL1
(P39fs)
Deletion
(frameshift variant)
Cardiovascular phenotype
+1 more
GPathogenic
ACVRL1
Single nucleotide variant
(synonymous variant)
Telangiectasia, hereditary hemorrhagic, type 2
GLikely benign
ACVRL1
Deletion
(inframe_deletion)
Telangiectasia, hereditary hemorrhagic, type 2
GUncertain significance
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
(C46S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GConflicting classifications of pathogenicity
ACVRL1
(R47W)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
ACVRL1
(R47fs)
Insertion
(frameshift variant)
Cardiovascular phenotype
+2 more
GPathogenic
ACVRL1
(A49fs)
Duplication
(frameshift variant)
ACVRL1-Related Disorders
+4 more
GPathogenic
ACVRL1
(R47Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
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
(A49P)
Single nucleotide variant
(missense variant)
Telangiectasia, hereditary hemorrhagic, type 2
Gnot provided
ACVRL1
(W50G)
Single nucleotide variant
(missense variant)
Telangiectasia, hereditary hemorrhagic, type 2
GLikely pathogenic
ACVRL1
(W50R)
Single nucleotide variant
(missense variant)
Telangiectasia, hereditary hemorrhagic, type 2
+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
(C51G)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GConflicting classifications of pathogenicity
ACVRL1
(C51Y)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GPathogenic
ACVRL1
(T52P)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GLikely pathogenic
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