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Items: 1 to 100 of 120

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ELOVL5
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
ELOVL5
(E256fs +2 more)
Duplication
(frameshift variant)
not specified
GUncertain significance
ELOVL5
(R297W +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ELOVL5
(V291M +2 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
ELOVL5
(G246*)
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign/Likely benign
ELOVL5
(G246fs +2 more)
Deletion
(frameshift variant)
not provided
GUncertain significance
ELOVL5
(P286T +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ELOVL5
(T281I +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ELOVL5
(P227L +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ELOVL5
(D295G +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ELOVL5
(D264N +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ELOVL5
(R261Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
ELOVL5
(P219S)
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ELOVL5
(S260F +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ELOVL5
(R216G)
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ELOVL5
Duplication
(intron variant)
not provided
GBenign
ELOVL5
Insertion
(intron variant)
not provided
GBenign
ELOVL5
Duplication
(intron variant)
not provided
GLikely benign
ELOVL5
Single nucleotide variant
(intron variant)
not provided
GBenign
ELOVL5
Single nucleotide variant
(splice donor variant)
not provided
GUncertain significance
ELOVL5
(F234L +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ELOVL5
(Y233C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
ELOVL5
(V190A)
Single nucleotide variant
(synonymous variant +1 more)
Spinocerebellar ataxia type 38
GUncertain significance
ELOVL5
(L189F +2 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 38
GUncertain significance
ELOVL5
(G230V +2 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 38
GPathogenic
ELOVL5
(V183M)
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ELOVL5
(A182V +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ELOVL5
(H180Y)
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ELOVL5
(G220R +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ELOVL5
(N172S +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ELOVL5
Single nucleotide variant
(intron variant)
not provided
GBenign/Likely benign
ELOVL5
Deletion
(intron variant)
not provided
GBenign
ELOVL5
(Y201C +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ELOVL5
(L196V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ELOVL5
(R220H +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ELOVL5
(R193C +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
ELOVL5
(P217S +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ELOVL5
(V189L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ELOVL5
(Y184C +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ELOVL5
(M207R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ELOVL5
(L179R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ELOVL5
(V205A +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ELOVL5
(V178I +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
ELOVL5
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
ELOVL5
Deletion
(intron variant)
not provided
GLikely benign
ELOVL5
Deletion
(intron variant)
not provided
GBenign
ELOVL5
Single nucleotide variant
(intron variant)
not provided
GBenign
ELOVL5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ELOVL5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ELOVL5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ELOVL5
(G164S +1 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 38
GUncertain significance
ELOVL5
(M158L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ELOVL5
(V171I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ELOVL5
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ELOVL5
(F128L +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ELOVL5
(L121F +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ELOVL5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ELOVL5
(V112I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ELOVL5
(R111H +1 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 38
+1 more
GUncertain significance
ELOVL5
(R111C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ELOVL5
(I109L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ELOVL5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ELOVL5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ELOVL5
Single nucleotide variant
(intron variant)
not provided
GBenign
ELOVL5
Single nucleotide variant
(intron variant)
not provided
GBenign
ELOVL5
Single nucleotide variant
(intron variant)
not provided
GBenign
ELOVL5
Microsatellite
(intron variant)
not provided
GLikely benign
ELOVL5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ELOVL5
Single nucleotide variant
(intron variant)
not provided
GBenign
ELOVL5
(M107K +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ELOVL5
(M107V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ELOVL5
(E131K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ELOVL5
(E104Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ELOVL5
(A129S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ELOVL5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ELOVL5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ELOVL5
Indel
(intron variant)
not provided
GUncertain significance
ELOVL5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ELOVL5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ELOVL5
Single nucleotide variant
(intron variant)
not provided
GBenign
ELOVL5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ELOVL5
Single nucleotide variant
(intron variant)
not provided
GBenign
ELOVL5
(Q102*)
Single nucleotide variant
(nonsense +1 more)
not provided
GBenign/Likely benign
ELOVL5
(C93F)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
ELOVL5
Single nucleotide variant
(intron variant +1 more)
not provided
GLikely benign
ELOVL5
(S91C)
Single nucleotide variant
(missense variant +1 more)
Spinocerebellar ataxia type 38
GUncertain significance
ELOVL5
(R89H)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ELOVL5
Single nucleotide variant
(intron variant)
not provided
GBenign
ELOVL5
Single nucleotide variant
(intron variant)
not provided
GBenign
ELOVL5
Single nucleotide variant
(intron variant)
not provided
GBenign
ELOVL5
(M79L)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 38
GUncertain significance
ELOVL5
(L72V)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 38
GPathogenic
ELOVL5
(I64F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ELOVL5
(R62Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ELOVL5
(R62W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ELOVL5
(M53V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ELOVL5
(P50Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ELOVL5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ELOVL5
(I41M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ELOVL5
(I37F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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