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Items: 1 to 100 of 1235

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126861648, LOC126861649
+4836 more
Copy number gain
See cases
GPathogenic
AGAP2, AGAP2-AS1
+199 more
Copy number loss
See cases
GPathogenic
AGAP2, AGAP2-AS1
+162 more
Copy number loss
See cases
GPathogenic
KIF5A
Single nucleotide variant
not provided
GBenign
KIF5A, LOC130008141
Single nucleotide variant
not provided
GLikely benign
KIF5A, LOC130008141
Single nucleotide variant
not provided
GLikely benign
KIF5A, LOC130008141
Single nucleotide variant
(5 prime UTR variant)
Spastic paraplegia, autosomal dominant
GUncertain significance
KIF5A
Single nucleotide variant
(5 prime UTR variant)
Hereditary spastic paraplegia 10
GUncertain significance
KIF5A
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
KIF5A
(M1fs)
Deletion
(frameshift variant +1 more)
Spastic paraplegia
GUncertain significance
KIF5A
(M1I)
Single nucleotide variant
(missense variant +1 more)
Spastic paraplegia
GUncertain significance
KIF5A
(A2K)
Indel
(missense variant)
Spastic paraplegia
GUncertain significance
KIF5A
(A2V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
KIF5A
Single nucleotide variant
(synonymous variant)
Spastic paraplegia
GLikely benign
KIF5A
(N5D)
Single nucleotide variant
(missense variant)
Spastic paraplegia
GUncertain significance
KIF5A
(C8R)
Single nucleotide variant
(missense variant)
Spastic paraplegia
GUncertain significance
KIF5A
(C8F)
Single nucleotide variant
(missense variant)
KIF5A-related condition
GUncertain significance
KIF5A
(I10V)
Single nucleotide variant
(missense variant)
Spastic paraplegia
GUncertain significance
KIF5A
Single nucleotide variant
(synonymous variant)
Spastic paraplegia
GLikely benign
KIF5A
(K11T)
Single nucleotide variant
(missense variant)
Spastic paraplegia
GUncertain significance
KIF5A
(L13V)
Single nucleotide variant
(missense variant)
Spastic paraplegia
GUncertain significance
KIF5A
(C14Y)
Single nucleotide variant
(missense variant)
Spastic paraplegia
GUncertain significance
KIF5A
Single nucleotide variant
(synonymous variant)
Spastic paraplegia
GLikely benign
KIF5A
(R15*)
Single nucleotide variant
(nonsense)
Spastic paraplegia
GPathogenic
KIF5A
(R17W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KIF5A
Single nucleotide variant
(synonymous variant)
Spastic paraplegia
GLikely benign
KIF5A
(P18S)
Single nucleotide variant
(missense variant)
Spastic paraplegia
GUncertain significance
KIF5A
Single nucleotide variant
(synonymous variant)
Spastic paraplegia
+1 more
GBenign/Likely benign
KIF5A
(A22V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KIF5A
(L25V)
Single nucleotide variant
(missense variant)
Spastic paraplegia
GUncertain significance
KIF5A
(R26W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KIF5A
(G27R)
Single nucleotide variant
(missense variant)
Spastic paraplegia
GUncertain significance
KIF5A
(K29M)
Single nucleotide variant
(missense variant)
Spastic paraplegia
GUncertain significance
KIF5A
(I31T)
Single nucleotide variant
(missense variant)
Spastic paraplegia
GUncertain significance
KIF5A
Single nucleotide variant
(synonymous variant)
Spastic paraplegia
GLikely benign
KIF5A
(I33V)
Single nucleotide variant
(missense variant)
Spastic paraplegia
GUncertain significance
KIF5A
(Q35K)
Single nucleotide variant
(missense variant)
Spastic paraplegia
GUncertain significance
KIF5A
(V40I)
Single nucleotide variant
(missense variant)
Spastic paraplegia
GLikely benign
KIF5A
Single nucleotide variant
(synonymous variant)
Spastic paraplegia
GLikely benign
KIF5A
(V41I)
Single nucleotide variant
(missense variant)
Spastic paraplegia
GUncertain significance
KIF5A
(I42V)
Single nucleotide variant
(missense variant)
Spastic paraplegia
GLikely benign
KIF5A
(I42M)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 10
+1 more
GUncertain significance
KIF5A
(G43A)
Single nucleotide variant
(missense variant)
Spastic paraplegia
GUncertain significance
KIF5A
Single nucleotide variant
(synonymous variant)
Spastic paraplegia
GUncertain significance
KIF5A
Single nucleotide variant
(splice donor variant)
Hereditary spastic paraplegia 10
GLikely pathogenic
KIF5A
Single nucleotide variant
(intron variant)
Spastic paraplegia
GUncertain significance
KIF5A
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 10
+3 more
GLikely benign
KIF5A
Single nucleotide variant
(intron variant)
Spastic paraplegia
GLikely benign
KIF5A
Single nucleotide variant
(intron variant)
Spastic paraplegia
GLikely benign
KIF5A
Single nucleotide variant
(intron variant)
Spastic paraplegia
GLikely benign
KIF5A
Single nucleotide variant
(intron variant)
Spastic paraplegia
GLikely benign
KIF5A
Single nucleotide variant
(intron variant)
Spastic paraplegia
GLikely benign
KIF5A
Single nucleotide variant
(intron variant)
not provided
GBenign
KIF5A
Deletion
(intron variant)
Schizophrenia
GUncertain significance
KIF5A
Single nucleotide variant
(intron variant)
Spastic paraplegia
GLikely benign
KIF5A
Single nucleotide variant
(intron variant)
Spastic paraplegia
GLikely benign
KIF5A
(P46A)
Single nucleotide variant
(missense variant +1 more)
Spastic paraplegia
GUncertain significance
KIF5A
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
KIF5A
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
KIF5A
(R51G)
Single nucleotide variant
(missense variant +1 more)
Spastic paraplegia
GUncertain significance
KIF5A
(R51C)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 10
+2 more
GUncertain significance
KIF5A
(R51H)
Single nucleotide variant
(missense variant +1 more)
KIF5A-related condition
+4 more
GConflicting classifications of pathogenicity
KIF5A
(F53L)
Single nucleotide variant
(missense variant +1 more)
Spastic paraplegia
GUncertain significance
KIF5A
(F53S)
Single nucleotide variant
(missense variant +1 more)
Spastic paraplegia
GUncertain significance
KIF5A
Single nucleotide variant
(synonymous variant +1 more)
Spastic paraplegia
GLikely benign
KIF5A
Single nucleotide variant
(intron variant +1 more)
Spastic paraplegia
GLikely benign
KIF5A
(P55A)
Single nucleotide variant
(missense variant +1 more)
Spastic paraplegia
GUncertain significance
KIF5A
(P55R)
Single nucleotide variant
(missense variant +1 more)
Spastic paraplegia
GUncertain significance
KIF5A
(N56H)
Single nucleotide variant
(missense variant +1 more)
Spastic paraplegia
GUncertain significance
KIF5A
(T57M)
Single nucleotide variant
(missense variant +1 more)
Spastic paraplegia
GUncertain significance
KIF5A
Single nucleotide variant
(synonymous variant +1 more)
Spastic paraplegia
GLikely benign
KIF5A
(E60Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KIF5A
Single nucleotide variant
(synonymous variant +1 more)
Spastic paraplegia
GLikely benign
KIF5A
(V62L)
Single nucleotide variant
(missense variant +1 more)
Spastic paraplegia
GUncertain significance
KIF5A
(A67P)
Single nucleotide variant
(missense variant +1 more)
Spastic paraplegia
GUncertain significance
KIF5A
(M68T)
Single nucleotide variant
(missense variant +1 more)
Spastic paraplegia
GUncertain significance
KIF5A
(M68R)
Single nucleotide variant
(missense variant +1 more)
Spastic paraplegia
GUncertain significance
KIF5A
(K72R)
Single nucleotide variant
(missense variant +1 more)
Spastic paraplegia
GUncertain significance
KIF5A
(D73N)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 10
GLikely pathogenic
KIF5A
Single nucleotide variant
(intron variant)
Spastic paraplegia
+1 more
GUncertain significance
KIF5A
Single nucleotide variant
(intron variant)
Spastic paraplegia
GUncertain significance
KIF5A
Single nucleotide variant
(intron variant)
Spastic paraplegia
GLikely benign
KIF5A
Duplication
(intron variant)
Spastic paraplegia
GLikely benign
KIF5A
Single nucleotide variant
(intron variant)
Spastic paraplegia
GLikely benign
KIF5A
Single nucleotide variant
(intron variant)
Spastic paraplegia
GLikely benign
KIF5A
Single nucleotide variant
(intron variant)
Spastic paraplegia
GLikely benign
KIF5A
Single nucleotide variant
(intron variant)
Spastic paraplegia
GLikely benign
KIF5A
Single nucleotide variant
(intron variant)
Spastic paraplegia
GLikely benign
KIF5A
Single nucleotide variant
(intron variant)
Spastic paraplegia
GLikely benign
KIF5A
Single nucleotide variant
(intron variant)
Spastic paraplegia
GLikely benign
KIF5A
Single nucleotide variant
(intron variant)
Spastic paraplegia
GLikely benign
KIF5A
Single nucleotide variant
(intron variant)
Spastic paraplegia
GLikely benign
KIF5A
Single nucleotide variant
(intron variant)
Spastic paraplegia
GLikely benign
KIF5A
Single nucleotide variant
(intron variant)
Spastic paraplegia
GLikely benign
KIF5A
Single nucleotide variant
(intron variant)
Spastic paraplegia
GLikely benign
KIF5A
Single nucleotide variant
(intron variant)
Spastic paraplegia
GLikely benign
KIF5A
Single nucleotide variant
(synonymous variant +1 more)
Spastic paraplegia
GLikely benign
KIF5A
(G77D)
Single nucleotide variant
(missense variant +1 more)
Spastic paraplegia
GUncertain significance
KIF5A
(Y78C)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KIF5A
(N79S)
Single nucleotide variant
(missense variant +1 more)
Spastic paraplegia
+1 more
GUncertain significance
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