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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CAV3
Single nucleotide variant
(synonymous variant)
Rippling muscle disease 2
+8 more
GBenign/Likely benign
CAV3
Single nucleotide variant
(synonymous variant)
Limb-Girdle Muscular Dystrophy, Dominant
+6 more
GBenign/Likely benign
CAV3, OXTR
Single nucleotide variant
(synonymous variant)
Limb-Girdle Muscular Dystrophy, Dominant
+5 more
GBenign/Likely benign
CAV3, OXTR
(G56S)
Single nucleotide variant
(missense variant)
not provided
+13 more
GBenign/Likely benign
CAV3, OXTR
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GBenign/Likely benign
CAV3, OXTR
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GConflicting classifications of pathogenicity
CAV3, OXTR
Single nucleotide variant
(synonymous variant)
not specified
+6 more
GBenign/Likely benign
CAV3, OXTR
Single nucleotide variant
(synonymous variant)
Long QT syndrome
+6 more
GConflicting classifications of pathogenicity
CAV3, OXTR
Single nucleotide variant
(synonymous variant)
not specified
+10 more
GBenign/Likely benign
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