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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CAV3
(H6L)
Single nucleotide variant
(missense variant)
Long QT syndrome
+1 more
GUncertain significance
CAV3
(C19*)
Single nucleotide variant
(nonsense)
Long QT syndrome
+2 more
GConflicting classifications of pathogenicity
CAV3, SSUH2
(R27Q)
Single nucleotide variant
(missense variant)
Distal myopathy, Tateyama type
+6 more
GPathogenic
OXTR, CAV3
(V145M)
Single nucleotide variant
(missense variant)
not specified
+8 more
GUncertain significance
CAV3, OXTR
(R148W)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
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