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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130060903, NAGLU
(V77G)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2V
+1 more
GLikely pathogenic
LOC130060903, NAGLU
(Y92H)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-III-B
+1 more
GConflicting classifications of pathogenicity
NAGLU
(Y140C)
Single nucleotide variant
(missense variant)
Hypertrichosis
+10 more
GPathogenic/Likely pathogenic
NAGLU
(G292R)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-III-B
+1 more
GConflicting classifications of pathogenicity
NAGLU
(D382Y)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-III-B
+1 more
GConflicting classifications of pathogenicity
NAGLU
(H414R)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-III-B
+2 more
GPathogenic/Likely pathogenic
NAGLU
(R643H)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2V
+1 more
GConflicting classifications of pathogenicity
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