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Items: 43

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AP4E1
(G22D)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
AP4E1
(Y86C +1 more)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+2 more
GUncertain significance
AP4E1
(L35V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AP4E1
(A44S +1 more)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+1 more
GUncertain significance
AP4E1
(S121T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AP4E1
(H125R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AP4E1
(V64I +1 more)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+1 more
GUncertain significance
AP4E1
(V169I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AP4E1
(H205N +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia
+5 more
GUncertain significance
AP4E1
(D167E +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AP4E1
(K177E +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AP4E1
(P260L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AP4E1
(Q214E +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AP4E1
(T216I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AP4E1
(P273S +1 more)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+1 more
GUncertain significance
AP4E1
(T286A +1 more)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+1 more
GUncertain significance
AP4E1
(Q375P +1 more)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+1 more
GUncertain significance
AP4E1
(K390E +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AP4E1
(G356S +1 more)
Single nucleotide variant
(missense variant)
AP4E1-related condition
+2 more
GUncertain significance
AP4E1
(E456K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AP4E1
(T475A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AP4E1
(V483L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AP4E1
(A490T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AP4E1
(A565V +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia
+4 more
GConflicting classifications of pathogenicity
AP4E1
(E502D +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AP4E1
(H522P +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
AP4E1
(H522R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AP4E1
(Y587C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AP4E1
(A678V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
AP4E1
(L682P +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AP4E1
(S615N +1 more)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+1 more
GUncertain significance
AP4E1
(L628P +1 more)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+1 more
GUncertain significance
AP4E1
(K647E +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
AP4E1
(E731K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
AP4E1
(S742F +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
AP4E1
(I914L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
AP4E1
(I852M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AP4E1
(D863G +1 more)
Single nucleotide variant
(missense variant)
Stuttering, familial persistent, 1
+2 more
GUncertain significance
AP4E1
(P978S +1 more)
Single nucleotide variant
(missense variant)
AP4E1-related condition
+4 more
GConflicting classifications of pathogenicity
AP4E1
(Q914R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
AP4E1
(L1072V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AP4E1
(I1081T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AP4E1
(I1008M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
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