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Links from Gene

Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AP4E1
Single nucleotide variant
(intron variant)
Developmental disorder
GLikely pathogenic
AP4E1
(K183R +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 51
GUncertain significance
AP4E1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
AP4E1
(Y17C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AP4E1
(Q1018* +1 more)
Single nucleotide variant
(nonsense)
Spastic paraplegia
GLikely pathogenic
AP4E1
(S537fs +1 more)
Deletion
(frameshift variant)
Spastic paraplegia
GLikely pathogenic
AP4E1
Single nucleotide variant
(splice donor variant)
Spastic paraplegia
GLikely pathogenic
AP4E1
(L219fs +1 more)
Deletion
(frameshift variant)
Spastic paraplegia
GLikely pathogenic
AP4E1
(D143fs +1 more)
Microsatellite
(frameshift variant)
Spastic paraplegia
GLikely pathogenic
AP4E1
(V379fs +1 more)
Duplication
(frameshift variant)
Spastic paraplegia
GLikely pathogenic
AP4E1
(T746* +1 more)
Microsatellite
(nonsense)
Stuttering, familial persistent, 1
GLikely pathogenic
AP4E1
(V517I +1 more)
Single nucleotide variant
(missense variant)
Not Specified
Gno classification for the single variant
Sno classification for the single variant
Ono classification for the single variant
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