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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KIF5A
(R51C)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
KIF5A
(D73N)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 10
GLikely pathogenic
KIF5A
(Q87E)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 10
GUncertain significance
KIF5A
Single nucleotide variant
(splice donor variant)
Hereditary spastic paraplegia 10
GLikely pathogenic
KIF5A
(Q200* +1 more)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 10
GUncertain significance
KIF5A
(N997I +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
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