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Items: 1 to 100 of 446

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KIF1C
(A4S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
KIF1C
(S5L)
Single nucleotide variant
(missense variant)
Spastic ataxia 2
GLikely benign
KIF1C
Single nucleotide variant
(synonymous variant)
Spastic ataxia 2
GBenign
KIF1C
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia
+2 more
GConflicting classifications of pathogenicity
KIF1C
(R13W)
Single nucleotide variant
(missense variant)
Spastic ataxia 2
GUncertain significance
KIF1C
Single nucleotide variant
(synonymous variant)
Spastic ataxia 2
GLikely benign
KIF1C
Single nucleotide variant
(synonymous variant)
Spastic ataxia 2
GLikely benign
KIF1C
(R18H)
Single nucleotide variant
(missense variant)
Spastic ataxia 2
+1 more
GUncertain significance
KIF1C
(C26R)
Single nucleotide variant
(missense variant)
Spastic ataxia 2
GLikely benign
KIF1C
Single nucleotide variant
(intron variant)
Spastic ataxia 2
GLikely benign
KIF1C
Single nucleotide variant
(intron variant)
Spastic ataxia 2
GLikely benign
KIF1C
Single nucleotide variant
(intron variant)
Spastic ataxia 2
GLikely benign
KIF1C
Single nucleotide variant
(intron variant)
Spastic ataxia 2
GLikely benign
KIF1C
Single nucleotide variant
(intron variant)
Spastic ataxia 2
GLikely benign
KIF1C
(I37V)
Single nucleotide variant
(missense variant)
Spastic ataxia 2
GUncertain significance
KIF1C
Single nucleotide variant
(synonymous variant)
Spastic ataxia 2
GLikely benign
KIF1C
(N39S)
Single nucleotide variant
(missense variant)
Spastic ataxia 2
GUncertain significance
KIF1C
(Q42H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
KIF1C
(T51I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
KIF1C
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
KIF1C
Single nucleotide variant
(synonymous variant)
Spastic ataxia 2
GLikely benign
KIF1C
Single nucleotide variant
(synonymous variant)
Spastic ataxia 2
GLikely benign
KIF1C
Duplication
(intron variant)
Spastic ataxia 2
GBenign
KIF1C
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
KIF1C
Single nucleotide variant
(intron variant)
Spastic ataxia 2
GLikely benign
KIF1C
Single nucleotide variant
(intron variant)
Spastic ataxia 2
GLikely benign
KIF1C
Single nucleotide variant
(intron variant)
Spastic ataxia 2
GBenign/Likely benign
KIF1C
(T62M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
KIF1C
(R75W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
KIF1C
Single nucleotide variant
(synonymous variant)
Spastic ataxia 2
+2 more
GBenign
KIF1C
Single nucleotide variant
(synonymous variant)
Spastic ataxia 2
GLikely benign
KIF1C
Single nucleotide variant
(synonymous variant)
Spastic ataxia 2
GLikely benign
KIF1C
Single nucleotide variant
(synonymous variant)
Spastic ataxia 2
GBenign
KIF1C
(V91M)
Single nucleotide variant
(missense variant)
Spastic ataxia 2
GUncertain significance
KIF1C
Single nucleotide variant
(synonymous variant)
Spastic ataxia 2
GBenign
KIF1C
(S104F)
Single nucleotide variant
(missense variant)
Spastic ataxia 2
GUncertain significance
KIF1C
Single nucleotide variant
(synonymous variant)
Spastic ataxia 2
GLikely benign
KIF1C
(R110*)
Single nucleotide variant
(nonsense)
Spastic ataxia 2
GPathogenic
KIF1C
(E112K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
KIF1C
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia
+1 more
GConflicting classifications of pathogenicity
KIF1C
(I118L)
Single nucleotide variant
(missense variant)
Spastic ataxia 2
GUncertain significance
KIF1C
(V119M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
KIF1C
Single nucleotide variant
(intron variant)
Spastic ataxia 2
GUncertain significance
KIF1C
Single nucleotide variant
(intron variant)
Spastic ataxia 2
+1 more
GUncertain significance
KIF1C
Single nucleotide variant
(intron variant)
Spastic ataxia 2
GLikely benign
KIF1C
Single nucleotide variant
(intron variant)
Spastic ataxia 2
GLikely benign
KIF1C
Single nucleotide variant
(intron variant)
Spastic ataxia 2
GLikely benign
KIF1C
Single nucleotide variant
(synonymous variant)
Spastic ataxia 2
GLikely benign
KIF1C
(R129C)
Single nucleotide variant
(missense variant)
Spastic ataxia 2
GUncertain significance
KIF1C
(R129H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
KIF1C
Single nucleotide variant
(synonymous variant)
Spastic ataxia 2
GLikely benign
KIF1C
Single nucleotide variant
(synonymous variant)
Spastic ataxia 2
GLikely benign
KIF1C
(L138V)
Single nucleotide variant
(missense variant)
Spastic ataxia 2
+1 more
GUncertain significance
KIF1C
(S139C)
Single nucleotide variant
(missense variant)
Spastic ataxia 2
+1 more
GUncertain significance
KIF1C
Single nucleotide variant
(intron variant)
Spastic ataxia 2
GLikely benign
KIF1C
Single nucleotide variant
(intron variant)
Spastic ataxia 2
GLikely benign
KIF1C
Single nucleotide variant
(intron variant)
Spastic ataxia 2
GLikely benign
KIF1C
Single nucleotide variant
(synonymous variant)
Spastic ataxia 2
+1 more
GConflicting classifications of pathogenicity
KIF1C
Single nucleotide variant
(synonymous variant)
Spastic ataxia 2
GLikely benign
KIF1C
Single nucleotide variant
(synonymous variant)
Spastic ataxia 2
GLikely benign
KIF1C
(R155G)
Single nucleotide variant
(missense variant)
Spastic ataxia 2
GUncertain significance
KIF1C
Single nucleotide variant
(synonymous variant)
Spastic ataxia 2
GLikely benign
KIF1C
Single nucleotide variant
(synonymous variant)
Spastic ataxia 2
GLikely benign
KIF1C
Single nucleotide variant
(synonymous variant)
Spastic ataxia 2
GLikely benign
KIF1C
(R163W)
Single nucleotide variant
(missense variant)
Spastic ataxia 2
GUncertain significance
KIF1C
(R167W)
Single nucleotide variant
(missense variant)
Spastic ataxia 2
+1 more
GConflicting classifications of pathogenicity
KIF1C
(R167Q)
Single nucleotide variant
(missense variant)
Spastic ataxia 2
+2 more
GConflicting classifications of pathogenicity
KIF1C
(P176L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
KIF1C
Single nucleotide variant
(synonymous variant)
Spastic ataxia 2
GLikely benign
KIF1C
Single nucleotide variant
(synonymous variant)
Spastic ataxia 2
GLikely benign
KIF1C
Single nucleotide variant
(synonymous variant)
Spastic ataxia 2
GLikely benign
KIF1C
(K183T)
Single nucleotide variant
(missense variant)
Spastic ataxia 2
+1 more
GUncertain significance
KIF1C
Single nucleotide variant
(synonymous variant)
Spastic ataxia 2
GLikely benign
KIF1C
Single nucleotide variant
(synonymous variant)
Spastic ataxia 2
GLikely benign
KIF1C
Single nucleotide variant
(synonymous variant)
Spastic ataxia 2
+1 more
GLikely benign
KIF1C
(A190T)
Single nucleotide variant
(missense variant)
Spastic ataxia 2
+1 more
GUncertain significance
KIF1C
(A193T)
Single nucleotide variant
(missense variant)
Spastic ataxia 2
GUncertain significance
KIF1C
(M196I)
Single nucleotide variant
(missense variant)
Spastic ataxia 2
GUncertain significance
KIF1C
(K201fs)
Deletion
(frameshift variant)
Spastic ataxia 2
GPathogenic
KIF1C
(R203Q)
Single nucleotide variant
(missense variant)
Spastic ataxia 2
GUncertain significance
KIF1C
Duplication
(splice donor variant)
Spastic ataxia 2
GUncertain significance
KIF1C
Single nucleotide variant
(intron variant)
Spastic ataxia 2
GUncertain significance
KIF1C
Single nucleotide variant
(intron variant)
Spastic ataxia 2
GLikely benign
KIF1C
Single nucleotide variant
(intron variant)
Spastic ataxia 2
GLikely benign
KIF1C
Single nucleotide variant
(synonymous variant)
Spastic ataxia 2
GLikely benign
KIF1C
Single nucleotide variant
(synonymous variant)
Spastic ataxia 2
GLikely benign
KIF1C
Single nucleotide variant
(synonymous variant)
Spastic ataxia 2
GLikely benign
KIF1C
(R228C)
Single nucleotide variant
(missense variant)
Spastic ataxia 2
+1 more
GConflicting classifications of pathogenicity
KIF1C
(R228H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
KIF1C
Single nucleotide variant
(synonymous variant)
Spastic ataxia 2
GLikely benign
KIF1C
(T234M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
KIF1C
Single nucleotide variant
(synonymous variant)
Spastic ataxia 2
GLikely benign
KIF1C
Single nucleotide variant
(synonymous variant)
Spastic ataxia 2
+1 more
GConflicting classifications of pathogenicity
KIF1C
(S238L)
Single nucleotide variant
(missense variant)
Spastic ataxia 2
GUncertain significance
KIF1C
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
KIF1C
Duplication
(intron variant)
not provided
+2 more
GBenign/Likely benign
KIF1C
Deletion
(intron variant)
Spastic ataxia 2
+1 more
GBenign/Likely benign
KIF1C
Deletion
(intron variant)
Spastic ataxia 2
+2 more
GBenign/Likely benign
KIF1C
Deletion
(intron variant)
not provided
+1 more
GBenign
KIF1C
Single nucleotide variant
(intron variant)
Spastic ataxia 2
GLikely benign
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