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Items: 19

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KIF1A
(A1723V +14 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
KIF1A
(R1571Q +14 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
KIF1A
(R1490W +14 more)
Single nucleotide variant
(missense variant)
KIF1A-related condition
+6 more
GConflicting classifications of pathogenicity
KIF1A
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+5 more
GConflicting classifications of pathogenicity
KIF1A
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
KIF1A
Single nucleotide variant
(intron variant)
not specified
+5 more
GBenign
KIF1A
(R1357W +14 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
KIF1A
Single nucleotide variant
(synonymous variant)
not provided
+7 more
GConflicting classifications of pathogenicity
KIF1A
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+6 more
GConflicting classifications of pathogenicity
KIF1A
(P1087S +8 more)
Single nucleotide variant
(missense variant)
History of neurodevelopmental disorder
+6 more
GConflicting classifications of pathogenicity
KIF1A
Single nucleotide variant
(synonymous variant)
KIF1A-related condition
+6 more
GBenign
KIF1A
(H1018R +7 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KIF1A
Microsatellite
(inframe_insertion +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
KIF1A
(E917del +3 more)
Microsatellite
(inframe_deletion +1 more)
Inborn genetic diseases
+2 more
GBenign/Likely benign
KIF1A
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+6 more
GConflicting classifications of pathogenicity
KIF1A
(Q748E +3 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory, type 2C
+4 more
GConflicting classifications of pathogenicity
KIF1A
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+6 more
GBenign
KIF1A
Single nucleotide variant
(intron variant)
Neuropathy, hereditary sensory, type 2C
+4 more
GBenign
KIF1A
(R254W)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 30
+5 more
GPathogenic/Likely pathogenic
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