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Links from MedGen

Items: 40

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CAV3, OXTR
(D43G)
Single nucleotide variant
(missense variant)
Rippling muscle disease 2
GLikely pathogenic
CAV3
Deletion
Rippling muscle disease 2
GPathogenic
CAV3, OXTR
(V104L)
Single nucleotide variant
(missense variant)
Long QT syndrome
+5 more
GUncertain significance
CAV3
(Q12R)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
+5 more
GUncertain significance
CAV3, OXTR
(P83S)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
+5 more
GUncertain significance
CAV3, OXTR
(I100N)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 1
+4 more
GLikely pathogenic
CAV3
(I22T)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
CAV3, OXTR
Single nucleotide variant
(3 prime UTR variant)
Hypertrophic cardiomyopathy 1
+5 more
GUncertain significance
CAV3, OXTR
Single nucleotide variant
(3 prime UTR variant)
Hypertrophic cardiomyopathy 1
+5 more
GUncertain significance
CAV3, OXTR
Single nucleotide variant
(3 prime UTR variant)
Hypertrophic cardiomyopathy 1
+5 more
GUncertain significance
CAV3, OXTR
(V104M)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
CAV3
Single nucleotide variant
(synonymous variant)
Long QT syndrome
+6 more
GLikely benign
CAV3, OXTR
(A85V)
Single nucleotide variant
(missense variant)
Long QT syndrome
+5 more
GUncertain significance
CAV3, OXTR
(P48R)
Single nucleotide variant
(missense variant)
Long QT syndrome
+6 more
GUncertain significance
CAV3, OXTR
(R74H)
Single nucleotide variant
(missense variant)
not provided
+7 more
GUncertain significance
CAV3, OXTR
(E42A)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+8 more
GUncertain significance
CAV3, OXTR
(S61N)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
CAV3, OXTR
Single nucleotide variant
(3 prime UTR variant)
Limb-Girdle Muscular Dystrophy, Dominant
+7 more
GUncertain significance
CAV3, OXTR
Single nucleotide variant
(3 prime UTR variant)
Limb-Girdle Muscular Dystrophy, Dominant
+7 more
GUncertain significance
CAV3, OXTR
Single nucleotide variant
(3 prime UTR variant)
Caveolinopathy
+7 more
GUncertain significance
CAV3, OXTR
Single nucleotide variant
(3 prime UTR variant)
Caveolinopathy
+7 more
GUncertain significance
CAV3, OXTR
(A134T)
Single nucleotide variant
(missense variant)
not provided
+7 more
GUncertain significance
CAV3, OXTR
(A134V)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+8 more
GUncertain significance
CAV3, OXTR
(V145M)
Single nucleotide variant
(missense variant)
not specified
+8 more
GUncertain significance
CAV3, OXTR
Single nucleotide variant
(synonymous variant)
not provided
+10 more
GBenign/Likely benign
CAV3
Single nucleotide variant
(splice donor variant)
Elevated circulating creatine kinase concentration
+5 more
GPathogenic
CAV3
(E34K)
Single nucleotide variant
(missense variant)
Long QT syndrome
+3 more
GConflicting classifications of pathogenicity
CAV3
Single nucleotide variant
(synonymous variant)
Rippling muscle disease 2
+8 more
GBenign/Likely benign
CAV3, OXTR
(E47K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CAV3, OXTR
(F97del)
Deletion
(inframe_deletion)
not provided
GUncertain significance
CAV3, OXTR
(A93T)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
CAV3, OXTR
(L87P)
Single nucleotide variant
(missense variant)
SUDDEN INFANT DEATH SYNDROME
+2 more
GUncertain significance
CAV3, SSUH2
(R27Q)
Single nucleotide variant
(missense variant)
Distal myopathy, Tateyama type
+6 more
GPathogenic
CAV3, OXTR
(A46V)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
CAV3, OXTR
(A46T)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GPathogenic
CAV3
(D28E)
Single nucleotide variant
(missense variant)
Rippling muscle disease 2
GPathogenic
CAV3, OXTR
(C72W)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+8 more
GConflicting classifications of pathogenicity
CAV3, OXTR
(G56S)
Single nucleotide variant
(missense variant)
Long QT syndrome 1
+13 more
GBenign/Likely benign
CAV3, OXTR
Deletion
(inframe_deletion)
Rippling muscle disease 2
GPathogenic
CAV3, OXTR
(P105L)
Single nucleotide variant
(missense variant)
Rippling muscle disease 2
GPathogenic
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