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Items: 26

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KIF5A
Single nucleotide variant
(intron variant)
Spastic paraplegia
+1 more
GUncertain significance
KIF5A
Single nucleotide variant
(synonymous variant)
Spastic paraplegia
+1 more
GBenign/Likely benign
KIF5A
(T196A +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
KIF5A
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
KIF5A
(R204W +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia
+3 more
GPathogenic/Likely pathogenic
KIF5A
(Y276C +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
KIF5A
(R280C +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia
+3 more
GPathogenic/Likely pathogenic
KIF5A
(R280H +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 10
+4 more
GPathogenic/Likely pathogenic
KIF5A
(R323W +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia
+3 more
GConflicting classifications of pathogenicity
KIF5A
(G384R +1 more)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
KIF5A
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign
KIF5A
(R422C +1 more)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+2 more
GConflicting classifications of pathogenicity
KIF5A
Single nucleotide variant
(intron variant)
not specified
+4 more
GBenign/Likely benign
KIF5A
Single nucleotide variant
(intron variant)
Spastic paraplegia
+1 more
GLikely benign
KIF5A
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
KIF5A
(N388D +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
KIF5A
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
KIF5A
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
KIF5A
Single nucleotide variant
(synonymous variant)
Spastic paraplegia
+3 more
GBenign/Likely benign
KIF5A
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
KIF5A
(E758K +1 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
KIF5A
(T761S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
KIF5A
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
KIF5A
(A797S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
KIF5A
(A961T +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 10
+3 more
GConflicting classifications of pathogenicity
KIF5A
(P986L +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia
+5 more
GConflicting classifications of pathogenicity
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