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Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FA2H
(Q344E)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 35
+2 more
GUncertain significance
FA2H
(V337I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FA2H
(V309I)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
FA2H
(T299fs)
Duplication
(frameshift variant)
not provided
GPathogenic
FA2H
(G258S)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 35
+1 more
GUncertain significance
FA2H
(K241T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FA2H
(G217R)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia
+4 more
GConflicting classifications of pathogenicity
FA2H
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
FA2H
(R197*)
Single nucleotide variant
(nonsense)
Spastic paraplegia
+2 more
GPathogenic/Likely pathogenic
FA2H
Deletion
(nonsense)
not provided
+1 more
GPathogenic
FA2H
(P148L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GPathogenic/Likely pathogenic
FA2H
(E78K)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
FA2H, LOC130059394
(H69Y)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 35
+2 more
GUncertain significance
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