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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AP4E1
(H53Y +1 more)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+2 more
GUncertain significance
AP4E1
Single nucleotide variant
(intron variant)
Stuttering, familial persistent, 1
+3 more
GBenign/Likely benign
AP4E1
(H205N +1 more)
Single nucleotide variant
(missense variant)
Stuttering, familial persistent, 1
+5 more
GUncertain significance
AP4E1
(T559P +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 51
+2 more
GUncertain significance
AP4E1
(P717S +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 51
+2 more
GUncertain significance
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