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Links from MedGen

Items: 1 to 100 of 134

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
VPS37A
Deletion
Hereditary spastic paraplegia 53
GUncertain significance
VPS37A
(K210Q +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 53
GUncertain significance
VPS37A
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 53
GLikely benign
VPS37A
Single nucleotide variant
(synonymous variant +2 more)
Hereditary spastic paraplegia 53
GLikely benign
VPS37A
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 53
GLikely benign
VPS37A
Deletion
(intron variant)
Hereditary spastic paraplegia 53
GLikely benign
VPS37A
(L330R +4 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 53
+1 more
GUncertain significance
VPS37A
(T159del +2 more)
Microsatellite
(inframe_deletion)
Hereditary spastic paraplegia 53
GUncertain significance
VPS37A
(D226H +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 53
GUncertain significance
VPS37A
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 53
GLikely benign
VPS37A
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 53
GUncertain significance
VPS37A
(S264R +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 53
GUncertain significance
VPS37A
Microsatellite
(intron variant)
Hereditary spastic paraplegia 53
GBenign
VPS37A
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 53
GLikely benign
VPS37A
Single nucleotide variant
(synonymous variant +1 more)
Hereditary spastic paraplegia 53
GLikely benign
VPS37A
(N221I +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 53
GUncertain significance
VPS37A
(I86M +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 53
GUncertain significance
VPS37A
(P101A +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 53
GUncertain significance
VPS37A
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 53
GLikely benign
VPS37A
(V183I +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 53
GUncertain significance
VPS37A
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 53
GLikely benign
VPS37A
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 53
GLikely benign
VPS37A
(G194D +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 53
GUncertain significance
VPS37A
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 53
GLikely benign
VPS37A
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 53
GLikely benign
VPS37A
(P55T)
Single nucleotide variant
(missense variant +2 more)
Hereditary spastic paraplegia 53
GUncertain significance
VPS37A
(T171I +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 53
GUncertain significance
VPS37A
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 53
GLikely benign
VPS37A
Single nucleotide variant
(synonymous variant +1 more)
Hereditary spastic paraplegia 53
GLikely benign
VPS37A
Single nucleotide variant
(synonymous variant +1 more)
Hereditary spastic paraplegia 53
GLikely benign
VPS37A
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 53
GLikely benign
VPS37A
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 53
GLikely benign
VPS37A
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 53
GLikely benign
VPS37A
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 53
GLikely benign
VPS37A
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 53
GLikely benign
VPS37A
(D139Y +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 53
GUncertain significance
VPS37A
(A168T +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 53
+1 more
GUncertain significance
VPS37A
(P189L +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 53
+1 more
GUncertain significance
VPS37A
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 53
GLikely benign
VPS37A
(I186T +2 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
VPS37A
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 53
GLikely benign
VPS37A
(H365Y +4 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 53
GUncertain significance
VPS37A
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 53
GLikely benign
VPS37A
(S150T +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 53
GUncertain significance
VPS37A
(R292T +4 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 53
GUncertain significance
VPS37A
(A11G)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 53
GUncertain significance
VPS37A
(V161I +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 53
GUncertain significance
VPS37A
(Q72R +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 53
GUncertain significance
VPS37A
(T215R +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 53
GUncertain significance
VPS37A
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 53
GLikely benign
VPS37A
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 53
GLikely benign
VPS37A
Single nucleotide variant
(splice acceptor variant +1 more)
Hereditary spastic paraplegia 53
GUncertain significance
VPS37A
(K184R +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 53
GUncertain significance
VPS37A
Single nucleotide variant
(synonymous variant +2 more)
Hereditary spastic paraplegia 53
GLikely benign
VPS37A
(T135I +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 53
GUncertain significance
VPS37A
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 53
GLikely benign
VPS37A
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 53
GLikely benign
VPS37A
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 53
GLikely benign
VPS37A
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 53
GLikely benign
VPS37A
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 53
GUncertain significance
VPS37A
Single nucleotide variant
(synonymous variant +1 more)
Hereditary spastic paraplegia 53
GLikely benign
VPS37A
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 53
GLikely benign
VPS37A
(M155I +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 53
GUncertain significance
VPS37A
(A11S)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 53
GUncertain significance
VPS37A
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 53
GLikely benign
VPS37A
(A290V +4 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 53
+1 more
GConflicting classifications of pathogenicity
VPS37A
(E212K +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
VPS37A
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 53
GLikely benign
VPS37A
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 53
GBenign
VPS37A
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 53
GLikely benign
VPS37A
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 53
GLikely benign
VPS37A
(D178N +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 53
GUncertain significance
VPS37A
(A202S +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 53
GUncertain significance
VPS37A
(T162I +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 53
GUncertain significance
VPS37A
Single nucleotide variant
(splice acceptor variant)
Hereditary spastic paraplegia 53
GUncertain significance
VPS37A
(L273I +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 53
+1 more
GUncertain significance
INTS10, FGL1
+21 more
Duplication
Hereditary spastic paraplegia 53
GUncertain significance
VPS37A
(Q264R +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 53
GUncertain significance
VPS37A
(S126R +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
VPS37A
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 53
+1 more
GBenign
VPS37A
Single nucleotide variant
(synonymous variant +2 more)
Hereditary spastic paraplegia 53
GLikely benign
VPS37A
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 53
GLikely benign
VPS37A
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 53
GLikely benign
VPS37A
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 53
+1 more
GConflicting classifications of pathogenicity
VPS37A
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 53
GLikely benign
VPS37A
(D246G +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 53
+1 more
GUncertain significance
VPS37A
(E224K +2 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
VPS37A
(A126S +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 53
GUncertain significance
VPS37A
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 53
GUncertain significance
VPS37A
(Q47L +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 53
GUncertain significance
VPS37A
(S117G +2 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
VPS37A
(S117C +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 53
GUncertain significance
VPS37A
(T208I +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 53
GUncertain significance
VPS37A
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 53
GUncertain significance
VPS37A
(T74N +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 53
GUncertain significance
VPS37A
(M364L +4 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 53
GUncertain significance
VPS37A
(T178P +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 53
GUncertain significance
VPS37A
(V119M +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 53
GUncertain significance
VPS37A
(A151T +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 53
GUncertain significance
VPS37A
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 53
GLikely benign
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