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Items: 35

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRICKLE1
(P802S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
PRICKLE1
Single nucleotide variant
(synonymous variant)
PRICKLE1-related condition
+3 more
GBenign/Likely benign
PRICKLE1
(C763Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PRICKLE1
(D759N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PRICKLE1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
PRICKLE1
(P746S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GBenign/Likely benign
PRICKLE1
(S739F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
PRICKLE1
(R702Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
PRICKLE1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
PRICKLE1
(R676Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
PRICKLE1
(S668T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PRICKLE1
(R648G)
Single nucleotide variant
(missense variant)
Epilepsy, progressive myoclonic, 1B
+1 more
GUncertain significance
PRICKLE1
(G641E)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PRICKLE1
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
PRICKLE1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GBenign
PRICKLE1
(E568del)
Microsatellite
(inframe_deletion)
not provided
GUncertain significance
PRICKLE1
(R534Q)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
PRICKLE1
Single nucleotide variant
(synonymous variant)
PRICKLE1-related condition
+4 more
GConflicting classifications of pathogenicity
PRICKLE1
(G479R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PRICKLE1
(S440G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PRICKLE1, LOC126861509
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
LOC126861509, PRICKLE1
(W408R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
LOC126861509, PRICKLE1
Single nucleotide variant
(synonymous variant)
Epilepsy, progressive myoclonic, 1B
+2 more
GBenign/Likely benign
PRICKLE1, LOC126861509
(R382K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
LOC126861509, PRICKLE1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GBenign/Likely benign
PRICKLE1, LOC126861509
(S307N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC126861509, PRICKLE1
(T275M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
LOC126861509, PRICKLE1
(Q270K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PRICKLE1
(G235S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
PRICKLE1
(A145V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
PRICKLE1
(V125A)
Single nucleotide variant
(missense variant)
PRICKLE1-related condition
+3 more
GBenign
PRICKLE1
(A124T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GBenign
PRICKLE1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
PRICKLE1
Single nucleotide variant
(synonymous variant)
PRICKLE1-related condition
+4 more
GConflicting classifications of pathogenicity
PRICKLE1
Single nucleotide variant
(synonymous variant)
PRICKLE1-related condition
+4 more
GBenign/Likely benign
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