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Items: 31

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CAV3, OXTR
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
CAV3, OXTR
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+5 more
GBenign/Likely benign
CAV3, OXTR
(E42A)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+8 more
GUncertain significance
CAV3, OXTR
Deletion
(inframe_deletion)
not provided
GUncertain significance
CAV3, OXTR
(I45N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CAV3, OXTR
(A46T)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GPathogenic
CAV3, OXTR
(A46V)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
CAV3, OXTR
(G56S)
Single nucleotide variant
(missense variant)
Limb-Girdle Muscular Dystrophy, Dominant
+13 more
GBenign/Likely benign
CAV3, OXTR
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+6 more
GBenign/Likely benign
CAV3, OXTR
(S61N)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
CAV3, OXTR
(S61R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CAV3, OXTR
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
CAV3, OXTR
(C72W)
Single nucleotide variant
(missense variant)
not specified
+8 more
GConflicting classifications of pathogenicity
CAV3, OXTR
(R74H)
Single nucleotide variant
(missense variant)
not provided
+7 more
GUncertain significance
CAV3, OXTR
(T78M)
Single nucleotide variant
(missense variant)
not specified
+8 more
GConflicting classifications of pathogenicity
CAV3, OXTR
Single nucleotide variant
(synonymous variant)
Long QT syndrome
+3 more
GConflicting classifications of pathogenicity
CAV3, OXTR
(V82I)
Single nucleotide variant
(missense variant)
Long QT syndrome 1
+5 more
GConflicting classifications of pathogenicity
CAV3, OXTR
Single nucleotide variant
(synonymous variant)
not specified
+6 more
GConflicting classifications of pathogenicity
CAV3, OXTR
(A93T)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
CAV3, OXTR
(F97del)
Deletion
(inframe_deletion)
not provided
GUncertain significance
CAV3, OXTR
(W101R)
Single nucleotide variant
(missense variant)
Long QT syndrome
+1 more
GConflicting classifications of pathogenicity
OXTR, CAV3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CAV3, OXTR
Single nucleotide variant
(synonymous variant)
Long QT syndrome 9
+10 more
GBenign/Likely benign
CAV3, OXTR
(L123fs)
Duplication
(frameshift variant)
not provided
GLikely pathogenic
CAV3, OXTR
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GConflicting classifications of pathogenicity
OXTR, CAV3
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
CAV3, OXTR
(A134T)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
OXTR, CAV3
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
CAV3, OXTR
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+7 more
GConflicting classifications of pathogenicity
OXTR, CAV3
(V145M)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
+8 more
GUncertain significance
CAV3, OXTR
(R148Q)
Single nucleotide variant
(missense variant)
CAV3-related condition
+6 more
GConflicting classifications of pathogenicity
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