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Items: 48

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GLB1
(D640Y +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GLB1
Single nucleotide variant
(synonymous variant +1 more)
Mucopolysaccharidosis, MPS-IV-B
+4 more
GBenign
GLB1
(R590H +3 more)
Single nucleotide variant
(missense variant +1 more)
GM1 gangliosidosis type 3
+5 more
GPathogenic/Likely pathogenic
GLB1
(R590C +3 more)
Single nucleotide variant
(missense variant +1 more)
GLB1-related disorder
+4 more
GPathogenic
GLB1
(S532G +3 more)
Single nucleotide variant
(missense variant)
GLB1-related condition
+5 more
GBenign/Likely benign
GLB1
(C521R +3 more)
Single nucleotide variant
(missense variant)
GM1 gangliosidosis
+6 more
GBenign
GLB1
Single nucleotide variant
(splice donor variant)
GM1 gangliosidosis type 2
+5 more
GPathogenic/Likely pathogenic
GLB1
(I459fs +3 more)
Duplication
(frameshift variant)
GM1 gangliosidosis type 2
+5 more
GPathogenic/Likely pathogenic
GLB1
(R482H +3 more)
Single nucleotide variant
(missense variant)
GM1 gangliosidosis
+5 more
GPathogenic
GLB1
Single nucleotide variant
(synonymous variant)
GLB1-related condition
+4 more
GConflicting classifications of pathogenicity
GLB1
(N437I +3 more)
Single nucleotide variant
(missense variant)
GM1 gangliosidosis type 2
+5 more
GConflicting classifications of pathogenicity
GLB1
(L436F +3 more)
Single nucleotide variant
(missense variant)
GLB1-related condition
+7 more
GBenign/Likely benign
GLB1
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis, MPS-IV-B
+4 more
GBenign/Likely benign
GLB1
(L362fs +3 more)
Deletion
(frameshift variant)
GM1 gangliosidosis type 2
+5 more
GPathogenic/Likely pathogenic
GLB1
(V330fs +3 more)
Deletion
(frameshift variant)
GM1 gangliosidosis
+3 more
GPathogenic
GLB1
(F357L +3 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
GLB1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
GLB1
(A335V +3 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
GLB1
(A301T +3 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
GLB1
(Y270S +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GLB1
(Y270C +3 more)
Single nucleotide variant
(missense variant)
GM1 gangliosidosis
+3 more
GConflicting classifications of pathogenicity
GLB1
(Y270D +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+6 more
GPathogenic/Likely pathogenic
GLB1
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis, MPS-IV-B
+4 more
GBenign/Likely benign
GLB1
Single nucleotide variant
(intron variant)
not specified
+5 more
GUncertain significance
GLB1
(V216A +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GLB1
(R208C +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GPathogenic
GLB1
(R201H +2 more)
Single nucleotide variant
(missense variant +1 more)
GM1 gangliosidosis
+5 more
GPathogenic
GLB1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
GLB1
(W161G +3 more)
Single nucleotide variant
(missense variant)
GM1 gangliosidosis type 2
+5 more
GConflicting classifications of pathogenicity
GLB1
Single nucleotide variant
(intron variant)
GM1 gangliosidosis
+3 more
GBenign
GLB1
Single nucleotide variant
(splice donor variant +1 more)
Mucopolysaccharidosis, MPS-IV-B
+2 more
GPathogenic/Likely pathogenic
GLB1
(R148S +2 more)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis, MPS-IV-B
+6 more
GPathogenic/Likely pathogenic
GLB1
(R148C +2 more)
Single nucleotide variant
(missense variant +1 more)
GM1 gangliosidosis type 2
+5 more
GPathogenic/Likely pathogenic
GLB1
Single nucleotide variant
(intron variant +1 more)
GM1 gangliosidosis type 2
+5 more
GPathogenic/Likely pathogenic
GLB1
(E129K +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GLB1
(R109W +2 more)
Single nucleotide variant
(missense variant +1 more)
GM1 gangliosidosis
+3 more
GBenign/Likely benign
GLB1
(R68Q +2 more)
Single nucleotide variant
(missense variant)
GM1 gangliosidosis type 3
+5 more
GConflicting classifications of pathogenicity
GLB1
(R59H +2 more)
Single nucleotide variant
(missense variant)
GM1 gangliosidosis
+6 more
GPathogenic/Likely pathogenic
GLB1
(R59C +2 more)
Single nucleotide variant
(missense variant)
GM1 gangliosidosis type 2
+5 more
GPathogenic/Likely pathogenic
GLB1
(Y57* +2 more)
Single nucleotide variant
(nonsense)
Mucopolysaccharidosis, MPS-IV-B
+5 more
GPathogenic/Likely pathogenic
GLB1
(Y105fs +2 more)
Deletion
(frameshift variant)
not provided
GPathogenic
GLB1
(R49C +2 more)
Single nucleotide variant
(missense variant)
GM1 gangliosidosis type 3
+5 more
GConflicting classifications of pathogenicity
GLB1, LOC129936434
+1 more
Single nucleotide variant
(5 prime UTR variant +1 more)
GM1 gangliosidosis
+1 more
GConflicting classifications of pathogenicity
GLB1, LOC129936434
+1 more
(L18fs)
Duplication
(frameshift variant +1 more)
GM1 gangliosidosis
+2 more
GPathogenic
GLB1, LOC129936434
+1 more
Single nucleotide variant
(synonymous variant +1 more)
not specified
+6 more
GBenign
GLB1, LOC129936434
+1 more
(P10L)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis, MPS-IV-B
+6 more
GBenign
TMPPE, GLB1
+1 more
(M1L)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GLikely pathogenic
GLB1, LOC129936434
+1 more
Single nucleotide variant
(5 prime UTR variant)
GM1 gangliosidosis
+2 more
GBenign
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