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Links from MedGen

Items: 1 to 100 of 137

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
VLDLR
(V334G +1 more)
Single nucleotide variant
(missense variant)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
Gnot provided
VLDLR
Single nucleotide variant
(splice acceptor variant +1 more)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
+1 more
GLikely pathogenic
VLDLR
(W534*)
Single nucleotide variant
(nonsense)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
GPathogenic
VLDLR
(E613G)
Single nucleotide variant
(missense variant)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
GPathogenic
VLDLR
Single nucleotide variant
(nonsense)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
GPathogenic
VLDLR
(R260*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
VLDLR
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GLikely pathogenic
VLDLR
Deletion
(splice donor variant)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
GLikely pathogenic
VLDLR
(C217R +1 more)
Single nucleotide variant
(missense variant)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
GUncertain significance
VLDLR
Single nucleotide variant
(intron variant)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
GUncertain significance
VLDLR
(P792R +3 more)
Single nucleotide variant
(missense variant)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
GUncertain significance
VLDLR
(I364L +1 more)
Single nucleotide variant
(missense variant)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
+1 more
GUncertain significance
VLDLR
(S104I)
Single nucleotide variant
(missense variant)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
+1 more
GUncertain significance
VLDLR
Single nucleotide variant
(splice donor variant)
Inborn genetic diseases
GLikely pathogenic
VLDLR
(R88Q)
Single nucleotide variant
(missense variant)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
GUncertain significance
VLDLR
(C674Y +1 more)
Single nucleotide variant
(missense variant)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
GLikely pathogenic
VLDLR
(Q126*)
Single nucleotide variant
(nonsense +1 more)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
GLikely pathogenic
VLDLR
(R515* +1 more)
Single nucleotide variant
(nonsense)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
GLikely pathogenic
VLDLR
(R88fs)
Duplication
(frameshift variant)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
GLikely pathogenic
VLDLR
(W753* +3 more)
Single nucleotide variant
(nonsense)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
GLikely pathogenic
VLDLR
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
VLDLR
Single nucleotide variant
(intron variant)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
+1 more
GBenign
VLDLR
(S266P +1 more)
Single nucleotide variant
(missense variant)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
GUncertain significance
VLDLR
(I194T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
VLDLR
(G100A)
Single nucleotide variant
(missense variant)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
GUncertain significance
VLDLR
(L656F +1 more)
Single nucleotide variant
(missense variant)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
GUncertain significance
VLDLR
Single nucleotide variant
(synonymous variant)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
GUncertain significance
VLDLR
(D140N +1 more)
Single nucleotide variant
(missense variant)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
GUncertain significance
VLDLR
(D157N +1 more)
Single nucleotide variant
(missense variant)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
GUncertain significance
VLDLR
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
VLDLR
Single nucleotide variant
(3 prime UTR variant)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
GUncertain significance
VLDLR
Single nucleotide variant
(3 prime UTR variant)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
GUncertain significance
VLDLR
Single nucleotide variant
(3 prime UTR variant)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
GUncertain significance
VLDLR
Single nucleotide variant
(3 prime UTR variant)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
GUncertain significance
VLDLR
Single nucleotide variant
(3 prime UTR variant)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
GUncertain significance
VLDLR
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
VLDLR
Single nucleotide variant
(3 prime UTR variant)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
GUncertain significance
VLDLR
Single nucleotide variant
(3 prime UTR variant)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
GUncertain significance
VLDLR
Single nucleotide variant
(3 prime UTR variant)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
GUncertain significance
VLDLR
Single nucleotide variant
(3 prime UTR variant)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
GUncertain significance
VLDLR
Single nucleotide variant
(3 prime UTR variant)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
GUncertain significance
VLDLR
(A475T +1 more)
Single nucleotide variant
(missense variant)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
GUncertain significance
VLDLR, VLDLR-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
GUncertain significance
VLDLR
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
VLDLR
(A730T +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
VLDLR
Single nucleotide variant
(synonymous variant)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
GUncertain significance
VLDLR
(T716I +1 more)
Single nucleotide variant
(missense variant +1 more)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
+2 more
GConflicting classifications of pathogenicity
VLDLR
(W306C +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
VLDLR
Single nucleotide variant
(synonymous variant)
VLDLR-related disorder
+2 more
GConflicting classifications of pathogenicity
VLDLR, VLDLR-AS1
Single nucleotide variant
(5 prime UTR variant)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
GUncertain significance
VLDLR-AS1, VLDLR
Single nucleotide variant
(5 prime UTR variant)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
GUncertain significance
VLDLR
Single nucleotide variant
(3 prime UTR variant)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
GLikely benign
VLDLR
(S710C +3 more)
Single nucleotide variant
(missense variant)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
GUncertain significance
VLDLR
(N700S +1 more)
Single nucleotide variant
(missense variant)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
+2 more
GUncertain significance
VLDLR
(P723L +1 more)
Single nucleotide variant
(missense variant)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
GUncertain significance
VLDLR
Single nucleotide variant
(intron variant)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
GUncertain significance
VLDLR
(G661R +1 more)
Single nucleotide variant
(missense variant)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
GUncertain significance
VLDLR
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
VLDLR
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
VLDLR
(D214N +1 more)
Single nucleotide variant
(missense variant)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
+1 more
GUncertain significance
VLDLR
Single nucleotide variant
(synonymous variant)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
+1 more
GConflicting classifications of pathogenicity
VLDLR, VLDLR-AS1
Single nucleotide variant
(5 prime UTR variant)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
GUncertain significance
VLDLR, VLDLR-AS1
Single nucleotide variant
(5 prime UTR variant)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
GUncertain significance
VLDLR, VLDLR-AS1
Single nucleotide variant
(5 prime UTR variant)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
GUncertain significance
VLDLR
(E419fs +1 more)
Deletion
(frameshift variant)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
GUncertain significance
VLDLR
Single nucleotide variant
(synonymous variant)
VLDLR-related disorder
+2 more
GConflicting classifications of pathogenicity
VLDLR
Single nucleotide variant
(synonymous variant)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
+2 more
GBenign/Likely benign
VLDLR
Single nucleotide variant
(intron variant)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
+1 more
GBenign
VLDLR
Single nucleotide variant
(splice donor variant)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
GLikely pathogenic
VLDLR
(F484L +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
VLDLR
(R448Q +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
VLDLR
(R556Q +1 more)
Single nucleotide variant
(missense variant)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
+3 more
GUncertain significance
VLDLR
Single nucleotide variant
(synonymous variant)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
+2 more
GBenign/Likely benign
VLDLR
(N81S)
Single nucleotide variant
(missense variant)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
+2 more
GBenign/Likely benign
VLDLR
Single nucleotide variant
(intron variant)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
+2 more
GConflicting classifications of pathogenicity
VLDLR
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
VLDLR
Single nucleotide variant
(3 prime UTR variant)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
+1 more
GBenign/Likely benign
VLDLR
Single nucleotide variant
(3 prime UTR variant)
Congenital cerebellar hypoplasia
+1 more
GUncertain significance
VLDLR
Single nucleotide variant
(3 prime UTR variant)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
+1 more
GUncertain significance
VLDLR
Single nucleotide variant
(3 prime UTR variant)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
+2 more
GBenign
VLDLR
Single nucleotide variant
(3 prime UTR variant)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
+1 more
GUncertain significance
VLDLR
Single nucleotide variant
(3 prime UTR variant)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
+1 more
GUncertain significance
VLDLR
Single nucleotide variant
(3 prime UTR variant)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
+1 more
GUncertain significance
VLDLR
Single nucleotide variant
(3 prime UTR variant)
Congenital cerebellar hypoplasia
+1 more
GUncertain significance
VLDLR
(I849T +3 more)
Single nucleotide variant
(missense variant)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
+3 more
GUncertain significance
VLDLR
Single nucleotide variant
(synonymous variant)
Congenital cerebellar hypoplasia
+1 more
GUncertain significance
VLDLR
(R656C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
VLDLR
Single nucleotide variant
(synonymous variant)
Congenital cerebellar hypoplasia
+3 more
GConflicting classifications of pathogenicity
VLDLR
Single nucleotide variant
(synonymous variant)
Congenital cerebellar hypoplasia
+2 more
GConflicting classifications of pathogenicity
VLDLR
Single nucleotide variant
(intron variant)
Congenital cerebellar hypoplasia
+1 more
GUncertain significance
VLDLR
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
VLDLR
(G288A +1 more)
Single nucleotide variant
(missense variant)
Congenital cerebellar hypoplasia
+2 more
GUncertain significance
VLDLR
(G288C +1 more)
Single nucleotide variant
(missense variant)
Congenital cerebellar hypoplasia
+2 more
GUncertain significance
VLDLR
(R231H +1 more)
Single nucleotide variant
(missense variant)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
+2 more
GUncertain significance
VLDLR
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
VLDLR
(R169G +1 more)
Single nucleotide variant
(missense variant)
Congenital cerebellar hypoplasia
+1 more
GUncertain significance
VLDLR
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
LOC130001468, VLDLR
+1 more
(A24D)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
VLDLR, VLDLR-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Congenital cerebellar hypoplasia
+2 more
GBenign
VLDLR-AS1, VLDLR
Single nucleotide variant
(non-coding transcript variant +1 more)
Congenital cerebellar hypoplasia
+2 more
GBenign
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