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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FBXO38
(R4Q)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
FBXO38
(N31H)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
FBXO38
(K403R)
Single nucleotide variant
(missense variant)
Neuronopathy, distal hereditary motor, type 2D
+1 more
GUncertain significance
FBXO38
(D573Y)
Single nucleotide variant
(missense variant)
Neuronopathy, distal hereditary motor, type 2D
GUncertain significance
FBXO38
(I691T)
Single nucleotide variant
(missense variant +1 more)
Distal hereditary motor neuropathy type 2
+1 more
GUncertain significance
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