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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRICKLE3
(A397V +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
PRICKLE3
(P309L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
PRICKLE3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PRICKLE3
(A198S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PRICKLE3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PRICKLE3
(P110R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
PRICKLE3
(W95* +1 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
AWAT2, BCLAF3
+568 more
Copy number gain
not provided
GUncertain significance
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