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Items: 24

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRICKLE2-AS1, PRICKLE2
(N786H)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
PRICKLE2, PRICKLE2-AS1
(N759H)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GUncertain significance
PRICKLE2-AS1, PRICKLE2
(S740F)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
PRICKLE2, PRICKLE2-AS1
(S731G)
Single nucleotide variant
(non-coding transcript variant +1 more)
PRICKLE2-related condition
+2 more
GConflicting classifications of pathogenicity
PRICKLE2, PRICKLE2-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Progressive myoclonic epilepsy type 5
+2 more
GConflicting classifications of pathogenicity
PRICKLE2-AS1, PRICKLE2
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
PRICKLE2-AS1, PRICKLE2
(D646G)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
PRICKLE2, PRICKLE2-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
PRICKLE2
(Q438H)
Single nucleotide variant
(missense variant)
Progressive myoclonic epilepsy
+2 more
GConflicting classifications of pathogenicity
PRICKLE2
(R397Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PRICKLE2
(E349D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
PRICKLE2
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign
PRICKLE2
(G294R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PRICKLE2
Single nucleotide variant
(synonymous variant)
Progressive myoclonic epilepsy
+3 more
GBenign
PRICKLE2
Single nucleotide variant
(intron variant)
Progressive myoclonic epilepsy
+2 more
GConflicting classifications of pathogenicity
PRICKLE2
(E253V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PRICKLE2
Single nucleotide variant
(synonymous variant)
Progressive myoclonic epilepsy
+3 more
GBenign
PRICKLE2
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
PRICKLE2
(V153I)
Single nucleotide variant
(missense variant)
Progressive myoclonic epilepsy
+4 more
GConflicting classifications of pathogenicity
PRICKLE2
Single nucleotide variant
(synonymous variant)
Progressive myoclonic epilepsy
+2 more
GBenign/Likely benign
PRICKLE2
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
PRICKLE2
Single nucleotide variant
(synonymous variant)
Progressive myoclonic epilepsy type 5
+1 more
GConflicting classifications of pathogenicity
PRICKLE2
(L77V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
PRICKLE2, PRICKLE2-AS3
Single nucleotide variant
(non-coding transcript variant +1 more)
Progressive myoclonic epilepsy
+2 more
GConflicting classifications of pathogenicity
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