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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FA2H
(T314fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 35
+1 more
GConflicting classifications of pathogenicity
FA2H
(P273S)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 35
GUncertain significance
FA2H
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic/Likely pathogenic
FA2H
(R235C)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 35
+2 more
GConflicting classifications of pathogenicity
FA2H, LOC130059394
(D35Y)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 35
GConflicting classifications of pathogenicity
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