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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADGRV1
(A156T)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
ADGRV1
(T247I)
Single nucleotide variant
(missense variant +1 more)
not provided
GConflicting classifications of pathogenicity
ADGRV1
(S819N)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
ADGRV1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
ADGRV1
(S1796C)
Single nucleotide variant
(missense variant +1 more)
not provided
GConflicting classifications of pathogenicity
ADGRV1
(G1829W)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ADGRV1
(V1889I)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
ADGRV1
(R2090H)
Single nucleotide variant
(missense variant +1 more)
not provided
GConflicting classifications of pathogenicity
ADGRV1
(T3060fs)
Duplication
(frameshift variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
ADGRV1
(Y5840H)
Single nucleotide variant
(missense variant +1 more)
Febrile seizures, familial, 4
+2 more
GConflicting classifications of pathogenicity
ADGRV1
(A5931D)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ADGRV1
(Q6256H)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
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