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Links from MedGen

Items: 1 to 100 of 483

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRICKLE1
Single nucleotide variant
(synonymous variant)
Epilepsy, progressive myoclonic, 1B
GLikely benign
PRICKLE1
(P801S)
Single nucleotide variant
(missense variant)
Epilepsy, progressive myoclonic, 1B
GUncertain significance
LOC126861509, PRICKLE1
Single nucleotide variant
(synonymous variant)
Epilepsy, progressive myoclonic, 1B
GLikely benign
PRICKLE1
Single nucleotide variant
(synonymous variant)
Epilepsy, progressive myoclonic, 1B
GLikely benign
PRICKLE1
Single nucleotide variant
(synonymous variant)
Epilepsy, progressive myoclonic, 1B
GLikely benign
PRICKLE1
(R674C)
Single nucleotide variant
(missense variant)
Epilepsy, progressive myoclonic, 1B
GUncertain significance
PRICKLE1
Single nucleotide variant
(intron variant)
Epilepsy, progressive myoclonic, 1B
GLikely benign
PRICKLE1
Single nucleotide variant
(intron variant)
Epilepsy, progressive myoclonic, 1B
GLikely benign
PRICKLE1
(G64E)
Single nucleotide variant
(missense variant)
Epilepsy, progressive myoclonic, 1B
GUncertain significance
PRICKLE1
Single nucleotide variant
(synonymous variant)
Epilepsy, progressive myoclonic, 1B
GLikely benign
PRICKLE1
Single nucleotide variant
(synonymous variant)
Epilepsy, progressive myoclonic, 1B
GLikely benign
PRICKLE1
Single nucleotide variant
(synonymous variant)
Epilepsy, progressive myoclonic, 1B
GLikely benign
PRICKLE1
Single nucleotide variant
(intron variant)
Epilepsy, progressive myoclonic, 1B
GLikely benign
PRICKLE1
(V125M)
Single nucleotide variant
(missense variant)
Epilepsy, progressive myoclonic, 1B
GBenign
PRICKLE1
Single nucleotide variant
(intron variant)
Epilepsy, progressive myoclonic, 1B
GLikely benign
PRICKLE1
Single nucleotide variant
(synonymous variant)
Epilepsy, progressive myoclonic, 1B
GLikely benign
LOC126861509, PRICKLE1
Single nucleotide variant
(synonymous variant)
Epilepsy, progressive myoclonic, 1B
GLikely benign
PRICKLE1
Single nucleotide variant
(intron variant)
Epilepsy, progressive myoclonic, 1B
GLikely benign
PRICKLE1
Single nucleotide variant
(synonymous variant)
Epilepsy, progressive myoclonic, 1B
GUncertain significance
PRICKLE1
Single nucleotide variant
(synonymous variant)
Epilepsy, progressive myoclonic, 1B
GLikely benign
PRICKLE1
(N685D)
Single nucleotide variant
(missense variant)
Epilepsy, progressive myoclonic, 1B
GUncertain significance
PRICKLE1
(M5T)
Single nucleotide variant
(missense variant)
Epilepsy, progressive myoclonic, 1B
GUncertain significance
PRICKLE1
Duplication
Epilepsy, progressive myoclonic, 1B
GUncertain significance
PRICKLE1
Deletion
Epilepsy, progressive myoclonic, 1B
GUncertain significance
PRICKLE1
(D740N)
Single nucleotide variant
(missense variant)
Epilepsy, progressive myoclonic, 1B
GUncertain significance
PRICKLE1
(T807I)
Single nucleotide variant
(missense variant)
Epilepsy, progressive myoclonic, 1B
GUncertain significance
PRICKLE1
Single nucleotide variant
(intron variant)
Epilepsy, progressive myoclonic, 1B
GLikely benign
PRICKLE1
Single nucleotide variant
(intron variant)
Epilepsy, progressive myoclonic, 1B
GLikely benign
PRICKLE1
Single nucleotide variant
(synonymous variant)
Epilepsy, progressive myoclonic, 1B
GLikely benign
PRICKLE1
Single nucleotide variant
(synonymous variant)
Epilepsy, progressive myoclonic, 1B
GLikely benign
PRICKLE1
(R620G)
Single nucleotide variant
(missense variant)
Epilepsy, progressive myoclonic, 1B
GUncertain significance
PRICKLE1
(S600L)
Single nucleotide variant
(missense variant)
Epilepsy, progressive myoclonic, 1B
GUncertain significance
PRICKLE1
Single nucleotide variant
(synonymous variant)
Epilepsy, progressive myoclonic, 1B
GLikely benign
PRICKLE1
Single nucleotide variant
(synonymous variant)
Epilepsy, progressive myoclonic, 1B
GLikely benign
LOC126861509, PRICKLE1
Single nucleotide variant
(synonymous variant)
Epilepsy, progressive myoclonic, 1B
GLikely benign
PRICKLE1
(N685S)
Single nucleotide variant
(missense variant)
Epilepsy, progressive myoclonic, 1B
GUncertain significance
PRICKLE1
(V449F)
Single nucleotide variant
(missense variant)
Epilepsy, progressive myoclonic, 1B
GUncertain significance
PRICKLE1
Single nucleotide variant
(synonymous variant)
Epilepsy, progressive myoclonic, 1B
GLikely benign
LOC126861509, PRICKLE1
(H273Y)
Single nucleotide variant
(missense variant)
Epilepsy, progressive myoclonic, 1B
GUncertain significance
PRICKLE1
Single nucleotide variant
(synonymous variant)
Epilepsy, progressive myoclonic, 1B
GLikely benign
LOC126861509, PRICKLE1
(D344E)
Single nucleotide variant
(missense variant)
Epilepsy, progressive myoclonic, 1B
GUncertain significance
PRICKLE1
Single nucleotide variant
(intron variant)
Epilepsy, progressive myoclonic, 1B
GUncertain significance
PRICKLE1
(R68W)
Single nucleotide variant
(missense variant)
Epilepsy, progressive myoclonic, 1B
GUncertain significance
LOC126861509, PRICKLE1
Single nucleotide variant
(synonymous variant)
Epilepsy, progressive myoclonic, 1B
GLikely benign
LOC126861509, PRICKLE1
(D410E)
Single nucleotide variant
(missense variant)
Epilepsy, progressive myoclonic, 1B
GUncertain significance
PRICKLE1
(I133M)
Single nucleotide variant
(missense variant)
Epilepsy, progressive myoclonic, 1B
GUncertain significance
PRICKLE1
(T204I)
Single nucleotide variant
(missense variant)
Epilepsy, progressive myoclonic, 1B
GUncertain significance
PRICKLE1
Single nucleotide variant
(synonymous variant)
Epilepsy, progressive myoclonic, 1B
GLikely benign
PRICKLE1
(L52V)
Single nucleotide variant
(missense variant)
Epilepsy, progressive myoclonic, 1B
GUncertain significance
PRICKLE1
(I114T)
Single nucleotide variant
(missense variant)
Epilepsy, progressive myoclonic, 1B
GUncertain significance
PRICKLE1
Deletion
(intron variant)
Epilepsy, progressive myoclonic, 1B
GLikely benign
PRICKLE1
(E249A)
Single nucleotide variant
(missense variant)
Epilepsy, progressive myoclonic, 1B
GUncertain significance
PRICKLE1
(T253K)
Indel
(missense variant)
Epilepsy, progressive myoclonic, 1B
GUncertain significance
PRICKLE1
Single nucleotide variant
(intron variant)
Epilepsy, progressive myoclonic, 1B
GLikely benign
LOC130007700, PRICKLE1
Single nucleotide variant
(synonymous variant)
Epilepsy, progressive myoclonic, 1B
GLikely benign
LOC130007700, PRICKLE1
(E92K)
Single nucleotide variant
(missense variant)
Epilepsy, progressive myoclonic, 1B
GUncertain significance
PRICKLE1
Duplication
(intron variant)
Epilepsy, progressive myoclonic, 1B
GUncertain significance
LOC126861509, PRICKLE1
Single nucleotide variant
(synonymous variant)
Epilepsy, progressive myoclonic, 1B
GLikely benign
PRICKLE1
(V449A)
Single nucleotide variant
(missense variant)
Epilepsy, progressive myoclonic, 1B
GUncertain significance
PRICKLE1
Single nucleotide variant
(synonymous variant)
Epilepsy, progressive myoclonic, 1B
GLikely benign
PRICKLE1
Single nucleotide variant
(synonymous variant)
Epilepsy, progressive myoclonic, 1B
GLikely benign
LOC126861509, PRICKLE1
(C346R)
Single nucleotide variant
(missense variant)
Epilepsy, progressive myoclonic, 1B
GUncertain significance
PRICKLE1
Single nucleotide variant
(intron variant)
Epilepsy, progressive myoclonic, 1B
GLikely benign
PRICKLE1
(R657Q)
Single nucleotide variant
(missense variant)
Epilepsy, progressive myoclonic, 1B
GUncertain significance
PRICKLE1
(E4K)
Single nucleotide variant
(missense variant)
Epilepsy, progressive myoclonic, 1B
+1 more
GUncertain significance
PRICKLE1
(Y247C)
Single nucleotide variant
(missense variant)
Epilepsy, progressive myoclonic, 1B
GUncertain significance
PRICKLE1
(D538G)
Single nucleotide variant
(missense variant)
Epilepsy, progressive myoclonic, 1B
GUncertain significance
PRICKLE1
(R677S)
Single nucleotide variant
(missense variant)
Epilepsy, progressive myoclonic, 1B
GUncertain significance
PRICKLE1
Single nucleotide variant
(synonymous variant)
Epilepsy, progressive myoclonic, 1B
GLikely benign
PRICKLE1
Single nucleotide variant
(synonymous variant)
Epilepsy, progressive myoclonic, 1B
GLikely benign
PRICKLE1
(C240S)
Single nucleotide variant
(missense variant)
Epilepsy, progressive myoclonic, 1B
GUncertain significance
PRICKLE1
Single nucleotide variant
(synonymous variant)
Epilepsy, progressive myoclonic, 1B
GLikely benign
PRICKLE1
Single nucleotide variant
(synonymous variant)
Epilepsy, progressive myoclonic, 1B
GLikely benign
PRICKLE1
(S426G)
Single nucleotide variant
(missense variant)
Epilepsy, progressive myoclonic, 1B
GUncertain significance
PRICKLE1
(P153fs)
Deletion
(frameshift variant)
Epilepsy, progressive myoclonic, 1B
GUncertain significance
PRICKLE1
Single nucleotide variant
(synonymous variant)
Epilepsy, progressive myoclonic, 1B
GLikely benign
PRICKLE1
(N433K)
Single nucleotide variant
(missense variant)
Epilepsy, progressive myoclonic, 1B
GUncertain significance
PRICKLE1
Single nucleotide variant
(synonymous variant)
Epilepsy, progressive myoclonic, 1B
GLikely benign
PRICKLE1
(Y74N)
Single nucleotide variant
(missense variant)
Epilepsy, progressive myoclonic, 1B
GUncertain significance
PRICKLE1
(S19G)
Single nucleotide variant
(missense variant)
Epilepsy, progressive myoclonic, 1B
GUncertain significance
PRICKLE1
(M435T)
Single nucleotide variant
(missense variant)
Epilepsy, progressive myoclonic, 1B
GUncertain significance
PRICKLE1
(Q475R)
Single nucleotide variant
(missense variant)
Epilepsy, progressive myoclonic, 1B
GUncertain significance
PRICKLE1
(E434D)
Single nucleotide variant
(missense variant)
Epilepsy, progressive myoclonic, 1B
GUncertain significance
PRICKLE1
Single nucleotide variant
(intron variant)
Epilepsy, progressive myoclonic, 1B
GUncertain significance
LOC126861509, PRICKLE1
(S280A)
Single nucleotide variant
(missense variant)
Epilepsy, progressive myoclonic, 1B
GUncertain significance
PRICKLE1
(P706S)
Single nucleotide variant
(missense variant)
Epilepsy, progressive myoclonic, 1B
GUncertain significance
PRICKLE1
(N579S)
Single nucleotide variant
(missense variant)
Epilepsy, progressive myoclonic, 1B
GUncertain significance
PRICKLE1
Single nucleotide variant
(synonymous variant)
Epilepsy, progressive myoclonic, 1B
GLikely benign
PRICKLE1
Single nucleotide variant
(synonymous variant)
Epilepsy, progressive myoclonic, 1B
GLikely benign
PRICKLE1
(D684N)
Single nucleotide variant
(missense variant)
Epilepsy, progressive myoclonic, 1B
GUncertain significance
PRICKLE1
(G547E)
Single nucleotide variant
(missense variant)
Epilepsy, progressive myoclonic, 1B
GUncertain significance
PRICKLE1
(I258V)
Single nucleotide variant
(missense variant)
Epilepsy, progressive myoclonic, 1B
GUncertain significance
PRICKLE1
(H589Q)
Single nucleotide variant
(missense variant)
Epilepsy, progressive myoclonic, 1B
GUncertain significance
PRICKLE1
(N554H)
Single nucleotide variant
(missense variant)
Epilepsy, progressive myoclonic, 1B
+1 more
GUncertain significance
PRICKLE1
(Y704F)
Single nucleotide variant
(missense variant)
Epilepsy, progressive myoclonic, 1B
GUncertain significance
PRICKLE1
(G255E)
Single nucleotide variant
(missense variant)
Epilepsy, progressive myoclonic, 1B
+1 more
GUncertain significance
PRICKLE1
(N715K)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
LOC126861509, PRICKLE1
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
LOC126861509, PRICKLE1
(T370N)
Single nucleotide variant
(missense variant)
Epilepsy, progressive myoclonic, 1B
GUncertain significance
PRICKLE1
(S634C)
Indel
(missense variant)
Epilepsy, progressive myoclonic, 1B
GUncertain significance
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