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Links from MedGen

Items: 1 to 100 of 124

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KIF5A
(G984S +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 10
GUncertain significance
KIF5A
(E260del +1 more)
Deletion
(inframe_deletion)
Hereditary spastic paraplegia 10
GUncertain significance
KIF5A
(V377F +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 10
GLikely benign
KIF5A
(S100* +1 more)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 10
GLikely pathogenic
KIF5A
(G157V +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 10
GPathogenic
KIF5A
(Q636H +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 10
+1 more
GUncertain significance
KIF5A
Single nucleotide variant
(splice donor variant)
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
(D73N)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 10
GLikely pathogenic
KIF5A
(Q200* +1 more)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 10
GUncertain significance
KIF5A
(Q541H +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 10
GUncertain significance
KIF5A
(G174D +1 more)
Single nucleotide variant
(missense variant)
Spastic paraplegia
GUncertain significance
KIF5A
(R618Q +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 10
+1 more
GConflicting classifications of pathogenicity
KIF5A
(P922L +1 more)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+3 more
GConflicting classifications of pathogenicity
KIF5A
(R51C)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
KIF5A
(R172P +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 10
+2 more
GUncertain significance
KIF5A
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 10
GUncertain significance
KIF5A
Single nucleotide variant
(intron variant)
Spastic paraplegia
+1 more
GUncertain significance
KIF5A
(Y140* +1 more)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 10
GLikely pathogenic
KIF5A
(R775* +1 more)
Single nucleotide variant
(nonsense)
Myoclonus, intractable, neonatal
+1 more
GConflicting classifications of pathogenicity
KIF5A
(I481M +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 10
GUncertain significance
KIF5A
(R208W +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 10
+1 more
GConflicting classifications of pathogenicity
KIF5A
(T196I +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 10
GPathogenic
KIF5A
(I166M +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 10
GPathogenic
KIF5A
(I166V +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 10
+1 more
GConflicting classifications of pathogenicity
KIF5A
(G154E +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 10
GPathogenic
KIF5A
(S113N +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 10
GPathogenic
KIF5A
(S113G +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 10
GPathogenic
KIF5A
(V183L +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 10
GUncertain significance
KIF5A
(Y139C +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 10
GConflicting classifications of pathogenicity
KIF5A
(K132R)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 10
GPathogenic
KIF5A
(L868del +1 more)
Deletion
(inframe_deletion)
Hereditary spastic paraplegia 10
GLikely pathogenic
KIF5A
(L144Q +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 10
GLikely pathogenic
KIF5A
(R627Q +1 more)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+1 more
GConflicting classifications of pathogenicity
KIF5A
(R162W +1 more)
Single nucleotide variant
(missense variant)
KIF5A-related condition
+3 more
GPathogenic/Likely pathogenic
KIF5A
Single nucleotide variant
(3 prime UTR variant)
Hereditary spastic paraplegia 10
GUncertain significance
KIF5A
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 10
+1 more
GLikely benign
KIF5A
(G985S +1 more)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+2 more
GConflicting classifications of pathogenicity
KIF5A
(R208Q +1 more)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+1 more
GUncertain significance
KIF5A
Single nucleotide variant
(synonymous variant)
Spastic paraplegia
+1 more
GConflicting classifications of pathogenicity
KIF5A
(T184S +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 10
GUncertain significance
KIF5A
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 10
GUncertain significance
KIF5A
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 10
GUncertain significance
KIF5A
Single nucleotide variant
(3 prime UTR variant)
Hereditary spastic paraplegia 10
GUncertain significance
KIF5A
Single nucleotide variant
(3 prime UTR variant)
Hereditary spastic paraplegia 10
+1 more
GBenign
KIF5A
Single nucleotide variant
(3 prime UTR variant)
Hereditary spastic paraplegia 10
GBenign
KIF5A
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 10
GUncertain significance
KIF5A
Single nucleotide variant
(intron variant)
Spastic paraplegia
+1 more
GConflicting classifications of pathogenicity
KIF5A
Single nucleotide variant
(intron variant)
Spastic paraplegia
+1 more
GUncertain significance
KIF5A
(R51H)
Single nucleotide variant
(missense variant +1 more)
Spastic paraplegia
+3 more
GConflicting classifications of pathogenicity
KIF5A
(I42M)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 10
+1 more
GUncertain significance
KIF5A
Single nucleotide variant
(5 prime UTR variant)
Hereditary spastic paraplegia 10
GUncertain significance
KIF5A
Single nucleotide variant
(3 prime UTR variant)
Hereditary spastic paraplegia 10
GUncertain significance
KIF5A
Single nucleotide variant
(3 prime UTR variant)
Hereditary spastic paraplegia 10
GUncertain significance
KIF5A
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 10
+1 more
GBenign/Likely benign
KIF5A
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 10
GUncertain significance
KIF5A
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 10
GUncertain significance
KIF5A
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 10
+3 more
GBenign/Likely benign
KIF5A
Single nucleotide variant
(synonymous variant)
Spastic paraplegia
+1 more
GLikely benign
KIF5A
Single nucleotide variant
(intron variant)
Myoclonus, intractable, neonatal
+2 more
GBenign
KIF5A
(R802H +1 more)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+1 more
GConflicting classifications of pathogenicity
KIF5A
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 10
+3 more
GUncertain significance
KIF5A
(R707W +1 more)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+1 more
GUncertain significance
KIF5A
(N997I +1 more)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+2 more
GConflicting classifications of pathogenicity
KIF5A
Single nucleotide variant
(synonymous variant)
Spastic paraplegia
+3 more
GConflicting classifications of pathogenicity
KIF5A
(S267P +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 10
GLikely pathogenic
KIF5A
(R191H +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia
+1 more
GConflicting classifications of pathogenicity
KIF5A
(P278L +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 10
+1 more
GPathogenic/Likely pathogenic
KIF5A
(R204W +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia
+3 more
GPathogenic/Likely pathogenic
KIF5A
(R422C +1 more)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+2 more
GConflicting classifications of pathogenicity
KIF5A
(R323W +1 more)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+3 more
GConflicting classifications of pathogenicity
KIF5A
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
KIF5A
Single nucleotide variant
(3 prime UTR variant)
Hereditary spastic paraplegia 10
GUncertain significance
KIF5A
Single nucleotide variant
(3 prime UTR variant)
Hereditary spastic paraplegia 10
GUncertain significance
KIF5A
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GConflicting classifications of pathogenicity
KIF5A
Single nucleotide variant
(3 prime UTR variant)
Hereditary spastic paraplegia 10
GUncertain significance
KIF5A
Single nucleotide variant
(3 prime UTR variant)
Hereditary spastic paraplegia 10
GUncertain significance
KIF5A
Single nucleotide variant
(3 prime UTR variant)
Hereditary spastic paraplegia 10
GUncertain significance
KIF5A
Single nucleotide variant
(3 prime UTR variant)
Hereditary spastic paraplegia 10
GBenign
KIF5A
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia
+3 more
GBenign
KIF5A
(F1023C +1 more)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+1 more
GConflicting classifications of pathogenicity
KIF5A
Single nucleotide variant
(synonymous variant)
Spastic paraplegia
+1 more
GConflicting classifications of pathogenicity
KIF5A
(T976I +1 more)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+4 more
GConflicting classifications of pathogenicity
KIF5A
(A961T +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
KIF5A
(T947A +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia
+4 more
GBenign/Likely benign
KIF5A
Single nucleotide variant
(synonymous variant)
Spastic paraplegia
+1 more
GConflicting classifications of pathogenicity
KIF5A
Single nucleotide variant
(synonymous variant)
Spastic paraplegia
+3 more
GLikely benign
KIF5A
(Q826H +1 more)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+1 more
GUncertain significance
KIF5A
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia
+3 more
GBenign/Likely benign
KIF5A
Single nucleotide variant
(synonymous variant)
Spastic paraplegia
+3 more
GConflicting classifications of pathogenicity
KIF5A
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia
+3 more
GBenign/Likely benign
KIF5A
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
KIF5A
Single nucleotide variant
(synonymous variant)
Spastic paraplegia
+2 more
GLikely benign
KIF5A
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
KIF5A
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia
+4 more
GBenign
KIF5A
(I360T +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 10
GUncertain significance
KIF5A
Single nucleotide variant
(intron variant)
Spastic paraplegia
+1 more
GConflicting classifications of pathogenicity
KIF5A
(S189L +1 more)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+1 more
GLikely benign
KIF5A
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia
+4 more
GBenign/Likely benign
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