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Links from MedGen

Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AP4S1
Deletion
Spastic paraplegia 52, autosomal recessive
GUncertain significance
AP4S1
(C122*)
Indel
(nonsense)
Spastic paraplegia 52, autosomal recessive
GPathogenic
AP4S1
(E51G)
Single nucleotide variant
(missense variant)
Spastic paraplegia 52, autosomal recessive
GUncertain significance
AP4S1
(R15Q)
Single nucleotide variant
(missense variant)
Spastic paraplegia 52, autosomal recessive
GUncertain significance
AP4S1
(T131A +1 more)
Single nucleotide variant
(missense variant +2 more)
Spastic paraplegia 52, autosomal recessive
GUncertain significance
AP4S1
Single nucleotide variant
(splice acceptor variant +1 more)
Spastic paraplegia 52, autosomal recessive
GLikely pathogenic
AP4S1
Single nucleotide variant
(intron variant)
Spastic paraplegia 52, autosomal recessive
+1 more
GBenign
AP4S1
Single nucleotide variant
(intron variant)
Spastic paraplegia 52, autosomal recessive
+1 more
GBenign
AP4S1
Single nucleotide variant
(intron variant)
Spastic paraplegia 52, autosomal recessive
+1 more
GBenign
AP4S1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
AP4S1
(R28H)
Single nucleotide variant
(missense variant)
Spastic paraplegia 52, autosomal recessive
+1 more
GUncertain significance
AP4S1
(K10R)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia
+4 more
GConflicting classifications of pathogenicity
AP4S1
Single nucleotide variant
(splice donor variant)
Spastic paraplegia 52, autosomal recessive
GLikely pathogenic
AP4S1
Microsatellite
(splice donor variant)
Neurodevelopmental disorder
+5 more
GPathogenic
AP4S1
(R97*)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic/Likely pathogenic
AP4S1
Single nucleotide variant
(intron variant)
Spastic paraplegia
+2 more
GPathogenic/Likely pathogenic
AP4S1
(R42*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
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