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Links from MedGen

Items: 30

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GBA2
(R873C)
Single nucleotide variant
(3 prime UTR variant +1 more)
Neurodevelopmental disorder
+1 more
GConflicting classifications of pathogenicity
GBA2
(Y239fs)
Duplication
(frameshift variant)
Hereditary spastic paraplegia 46
+1 more
GLikely pathogenic
GBA2
(Y534*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 46
GPathogenic
GBA2
(R870*)
Single nucleotide variant
(3 prime UTR variant +1 more)
Hereditary spastic paraplegia 46
GLikely pathogenic
GBA2
(P503S)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 46
GUncertain significance
GBA2
Single nucleotide variant
(3 prime UTR variant +1 more)
Hereditary spastic paraplegia 46
GLikely pathogenic
EEF1A2
(M102T)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 33
+1 more
GConflicting classifications of pathogenicity
GBA2
Single nucleotide variant
(splice donor variant)
Hereditary spastic paraplegia 46
GLikely pathogenic
GBA2
Single nucleotide variant
(splice donor variant)
Spastic paraplegia
+1 more
GLikely pathogenic
GBA2
(M750fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 46
GPathogenic
GBA2
Deletion
(frameshift variant)
Hereditary spastic paraplegia 46
GPathogenic
GBA2
(A453T)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+2 more
GConflicting classifications of pathogenicity
GBA2
(C89S)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 46
+2 more
GUncertain significance
GBA2
(H114R)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 46
+1 more
GUncertain significance
GBA2
(R429W)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 46
+1 more
GUncertain significance
GBA2
(W173*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 46
GPathogenic
GBA2
(Y121*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 46
GPathogenic
GBA2
(R320Q)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+2 more
GUncertain significance
GBA2
(G220D)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+2 more
GUncertain significance
GBA2
Insertion
(intron variant)
Spastic paraplegia
+2 more
GBenign
GBA2
(A344P)
Single nucleotide variant
(missense variant)
Spastic paraplegia
GUncertain significance
GBA2
(R518W)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+3 more
GConflicting classifications of pathogenicity
GBA2
(C45S)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 46
+2 more
GUncertain significance
GBA2
(R850C)
Single nucleotide variant
(3 prime UTR variant +1 more)
Hereditary spastic paraplegia 46
+1 more
GConflicting classifications of pathogenicity
GBA2
(D594H)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 46
GLikely pathogenic
GBA2
(R873H)
Single nucleotide variant
(3 prime UTR variant +1 more)
Hereditary spastic paraplegia 46
+1 more
GPathogenic/Likely pathogenic
GBA2
(R340*)
Single nucleotide variant
(nonsense)
Spastic paraplegia
+1 more
GPathogenic
GBA2
(T492fs)
Duplication
(frameshift variant)
Hereditary spastic paraplegia 46
GPathogenic
GBA2
(R234*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 46
+1 more
GPathogenic
GBA2
(R630W)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 46
+1 more
GPathogenic/Likely pathogenic
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