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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADGRV1
(P352L)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
ADGRV1
(G4640E)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GUncertain significance
ADGRV1
(M4856R)
Single nucleotide variant
(missense variant +1 more)
Febrile seizures, familial, 4
+1 more
GUncertain significance
ADGRV1
(L4930*)
Single nucleotide variant
(nonsense +1 more)
Febrile seizures, familial, 4
GLikely pathogenic
ADGRV1
(T5438A)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
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