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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADGRV1
(I137V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
ADGRV1
(T1402I)
Single nucleotide variant
(missense variant +1 more)
Febrile seizures, familial, 4
GUncertain significance
ADGRV1
(R2336*)
Single nucleotide variant
(nonsense +1 more)
Rare genetic deafness
+2 more
GPathogenic
ADGRV1
(L2830V)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
ADGRV1
(H3399Y)
Single nucleotide variant
(missense variant +1 more)
Febrile seizures, familial, 4
+2 more
GConflicting classifications of pathogenicity
ADGRV1
(Y3685H)
Single nucleotide variant
(missense variant +1 more)
Febrile seizures, familial, 4
GUncertain significance
ADGRV1
(R4299Q)
Single nucleotide variant
(missense variant +1 more)
Febrile seizures, familial, 4
+1 more
GConflicting classifications of pathogenicity
ADGRV1
(E5062V)
Single nucleotide variant
(missense variant +1 more)
Febrile seizures, familial, 4
GUncertain significance
ADGRV1
(T5791A)
Single nucleotide variant
(missense variant +1 more)
Febrile seizures, familial, 4
GUncertain significance
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