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Links from MedGen

Items: 1 to 100 of 302

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AP4M1
Duplication
(intron variant)
Hereditary spastic paraplegia 50
GLikely benign
AP4M1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 50
GLikely benign
AP4M1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 50
GLikely benign
AP4M1
(V152I +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 50
GUncertain significance
AP4M1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 50
GLikely benign
AP4M1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 50
GLikely benign
AP4M1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 50
GLikely benign
AP4M1
(V243A +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 50
GUncertain significance
AP4M1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 50
GLikely benign
AP4M1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 50
GLikely benign
AP4M1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 50
GLikely benign
AP4M1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 50
GLikely benign
AP4M1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 50
GLikely benign
AP4M1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 50
GLikely benign
AP4M1
(S446G +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 50
GUncertain significance
AP4M1
(D295fs +1 more)
Duplication
(frameshift variant)
Hereditary spastic paraplegia 50
GPathogenic
AP4M1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 50
GLikely benign
AP4M1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 50
GLikely benign
AP4M1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 50
GLikely benign
AP4M1
Microsatellite
(intron variant)
Hereditary spastic paraplegia 50
GLikely benign
AP4M1
Deletion
(intron variant)
Hereditary spastic paraplegia 50
GLikely benign
AP4M1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 50
GLikely benign
AP4M1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 50
GLikely benign
AP4M1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 50
GLikely benign
AP4M1
(D190fs +1 more)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 50
GPathogenic
AP4M1
Duplication
(intron variant)
Hereditary spastic paraplegia 50
GUncertain significance
AP4M1
Deletion
(intron variant)
Hereditary spastic paraplegia 50
GUncertain significance
AP4M1
Single nucleotide variant
(splice acceptor variant)
Hereditary spastic paraplegia 50
GLikely pathogenic
AP4M1
(Q420L +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 50
GUncertain significance
AP4M1
(H58R +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 50
GUncertain significance
AP4M1
Single nucleotide variant
(synonymous variant +1 more)
Hereditary spastic paraplegia 50
GLikely benign
AP4M1
(R362C +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 50
GUncertain significance
AP4M1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 50
GLikely benign
AP4M1
Single nucleotide variant
(splice acceptor variant)
Hereditary spastic paraplegia 50
GLikely pathogenic
AP4M1
(R452W +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 50
GUncertain significance
AP4M1
(E118K +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 50
GUncertain significance
AP4M1
(H437Q +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 50
GUncertain significance
AP4M1
(I57V +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 50
GUncertain significance
AP4M1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 50
GLikely benign
AP4M1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 50
GLikely benign
AP4M1
(P291H +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 50
GUncertain significance
AP4M1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 50
GLikely benign
AP4M1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 50
GLikely benign
AP4M1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 50
GLikely benign
AP4M1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 50
GLikely benign
AP4M1
(R369H +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 50
GUncertain significance
AP4M1
Deletion
(intron variant)
Hereditary spastic paraplegia 50
GBenign
AP4M1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 50
GLikely benign
AP4M1
(E111Q +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 50
GUncertain significance
AP4M1
(V29M)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 50
GUncertain significance
AP4M1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 50
+1 more
GUncertain significance
AP4M1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 50
GLikely benign
AP4M1
(D251N +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 50
GUncertain significance
AP4M1
(L89V +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 50
GUncertain significance
AP4M1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 50
GLikely benign
AP4M1
(V208M +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 50
GUncertain significance
AP4M1
(H414Q +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 50
GUncertain significance
AP4M1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 50
GLikely benign
AP4M1
(T280I +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 50
GUncertain significance
AP4M1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 50
GLikely benign
AP4M1
(R104C +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 50
GUncertain significance
AP4M1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 50
GLikely benign
AP4M1
(E233* +1 more)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 50
GPathogenic
AP4M1
(R441Q +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 50
GUncertain significance
AP4M1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 50
GLikely benign
AP4M1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 50
GLikely benign
AP4M1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 50
GLikely benign
AP4M1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 50
GLikely benign
AP4M1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 50
GLikely benign
AP4M1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 50
GLikely benign
AP4M1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
AP4M1
(R459Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
AP4M1
(T38M)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 50
GUncertain significance
AP4M1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 50
GLikely benign
AP4M1
(R54H +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 50
GUncertain significance
AP4M1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 50
GLikely benign
AP4M1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 50
GLikely benign
AP4M1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 50
GLikely benign
AP4M1
(R420W +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 50
GUncertain significance
AP4M1
(Q4H)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 50
GUncertain significance
AP4M1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 50
GLikely benign
AP4M1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 50
GLikely benign
AP4M1
(L97V +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 50
GUncertain significance
AP4M1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 50
GUncertain significance
AP4M1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 50
GLikely benign
AP4M1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 50
GLikely benign
AP4M1
(T402fs +1 more)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 50
GPathogenic
AP4M1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 50
GLikely benign
AP4M1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 50
GLikely benign
AP4M1
Deletion
(intron variant)
Hereditary spastic paraplegia 50
GLikely benign
AP4M1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 50
GLikely benign
AP4M1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 50
GLikely benign
AP4M1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 50
GLikely benign
AP4M1
Deletion
(splice acceptor variant)
Hereditary spastic paraplegia 50
GLikely pathogenic
AP4M1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 50
GLikely benign
AP4M1
Microsatellite
(intron variant)
Hereditary spastic paraplegia 50
GLikely benign
AP4M1
(K360R +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 50
GUncertain significance
AP4M1
(G392W +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 50
GUncertain significance
AP4M1
(L268V +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 50
GUncertain significance
AP4M1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 50
GLikely benign
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