U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 40

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AP4E1
(K183R +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 51
GUncertain significance
AP4E1
Copy number loss
Hereditary spastic paraplegia 51
GPathogenic
AP4E1
Single nucleotide variant
(splice donor variant)
Hereditary spastic paraplegia 51
GUncertain significance
AP4E1
(E445fs +1 more)
Duplication
(frameshift variant)
Hereditary spastic paraplegia 51
GLikely pathogenic
AP4E1
(W860* +1 more)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 51
GLikely pathogenic
AP4E1
(H53Y +1 more)
Single nucleotide variant
(missense variant)
Stuttering, familial persistent, 1
+2 more
GUncertain significance
AP4E1
Microsatellite
(splice donor variant)
Spastic paraplegia
+1 more
GPathogenic/Likely pathogenic
AP4E1
Single nucleotide variant
(intron variant)
Stuttering, familial persistent, 1
+2 more
GBenign
AP4E1
Deletion
(intron variant)
Hereditary spastic paraplegia 51
+2 more
GBenign
AP4E1
Insertion
(intron variant)
Stuttering, familial persistent, 1
+2 more
GBenign
AP4E1
Duplication
(intron variant)
Hereditary spastic paraplegia 51
+2 more
GBenign
AP4E1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 51
+2 more
GBenign
AP4E1
Indel
(splice donor variant)
Hereditary spastic paraplegia 51
GPathogenic
AP4E1
(R1030* +1 more)
Single nucleotide variant
(nonsense)
ALG12-congenital disorder of glycosylation
GPathogenic
AP4E1
(N109S +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 51
GUncertain significance
AP4E1
(K106Q +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 51
+1 more
GUncertain significance
AP4E1
Single nucleotide variant
(5 prime UTR variant +1 more)
AP4E1-related disorder
+5 more
GBenign/Likely benign
AP4E1
Single nucleotide variant
(intron variant)
Stuttering, familial persistent, 1
+3 more
GBenign/Likely benign
AP4E1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 51
+2 more
GBenign
AP4E1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 51
+1 more
GBenign
AP4E1
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
AP4E1
Single nucleotide variant
(splice acceptor variant)
Hereditary spastic paraplegia 51
GLikely pathogenic
AP4E1
Single nucleotide variant
(intron variant)
Spastic paraplegia
+3 more
GBenign/Likely benign
AP4E1
Single nucleotide variant
(synonymous variant)
Stuttering, familial persistent, 1
+3 more
GBenign/Likely benign
AP4E1
(P717S +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 51
+2 more
GUncertain significance
AP4E1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia
+4 more
GBenign/Likely benign
AP4E1
(T559P +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 51
+2 more
GUncertain significance
AP4E1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 51
+2 more
GBenign
AP4E1
(V618I +1 more)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+1 more
GConflicting classifications of pathogenicity
AP4E1
Single nucleotide variant
(intron variant)
not specified
+5 more
GBenign/Likely benign
AP4E1
(H205N +1 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
AP4E1
(C163R +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 51
+2 more
GBenign
AP4E1
Single nucleotide variant
(synonymous variant)
Spastic paraplegia
+2 more
GBenign
AP4E1
Single nucleotide variant
(intron variant)
Spastic paraplegia
+4 more
GBenign
AP4E1
(M919V +1 more)
Single nucleotide variant
(missense variant)
AP4E1-related disorder
+6 more
GBenign/Likely benign
AP4E1
(T810I +1 more)
Single nucleotide variant
(missense variant)
AP4E1-related disorder
+4 more
GBenign
AP4E1
(N428S +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia
+5 more
GBenign/Likely benign
AP4E1
(Y362C +1 more)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+4 more
GBenign/Likely benign
AP4E1
(V379fs +1 more)
Insertion
(frameshift variant)
Hereditary spastic paraplegia 51
GPathogenic
AP4E1, LOC125078079
+5 more
Deletion
Hereditary spastic paraplegia 51
GPathogenic
Format
Items per page
Sort by
Choose Destination