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Links from MedGen

Items: 1 to 100 of 113

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
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
(intron 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)
Inborn genetic diseases
+1 more
GUncertain significance
VPS37A
(P189L +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+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)
Inborn genetic diseases
+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
GUncertain significance
VPS37A
(E212K +2 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 53
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)
Inborn genetic diseases
+1 more
GUncertain significance
ASAH1, ASAH1-AS1
+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)
Hereditary spastic paraplegia 53
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)
Hereditary spastic paraplegia 53
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
VPS37A
Single nucleotide variant
(synonymous variant +1 more)
Hereditary spastic paraplegia 53
GLikely benign
VPS37A
Single nucleotide variant
(stop lost)
Hereditary spastic paraplegia 53
GLikely benign
VPS37A
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 53
+1 more
GBenign/Likely benign
VPS37A
Single nucleotide variant
(synonymous variant +1 more)
Hereditary spastic paraplegia 53
+2 more
GBenign/Likely benign
VPS37A
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 53
GLikely benign
VPS37A
(P124L +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 53
GLikely benign
VPS37A
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 53
+1 more
GBenign
VPS37A
(D255E +4 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 53
GUncertain significance
VPS37A
(A292S +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
VPS37A
(D31N +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 53
GUncertain significance
VPS37A
(Y116H +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
(P144T +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
VPS37A
(A176S +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 53
GUncertain significance
VPS37A
(T171S +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 53
GUncertain significance
VPS37A
(A193S +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 53
GUncertain significance
VPS37A
(K263Q +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 53
+1 more
GUncertain significance
VPS37A
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 53
+1 more
GBenign/Likely benign
VPS37A
Single nucleotide variant
(synonymous variant +1 more)
Hereditary spastic paraplegia 53
GLikely benign
VPS37A
(L234I +2 more)
Single nucleotide variant
(missense variant)
Idiopathic transverse myelitis
+1 more
GConflicting classifications of pathogenicity
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