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Links from MedGen

Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ELOVL5
(R111H +1 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 38
+1 more
GUncertain significance
ELOVL5
(V190A)
Single nucleotide variant
(synonymous variant +1 more)
Spinocerebellar ataxia type 38
GUncertain significance
ELOVL5
(S91C)
Single nucleotide variant
(missense 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
(G164S +1 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 38
GUncertain significance
ELOVL5
(M79L)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 38
GUncertain significance
ELOVL5
(R193C +1 more)
Single nucleotide variant
(missense variant +1 more)
Spinocerebellar ataxia type 38
+1 more
GUncertain significance
ELOVL5
(Q102*)
Single nucleotide variant
(nonsense +1 more)
not provided
GBenign/Likely benign
ELOVL5
(Y233C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
ELOVL5
(L72V)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 38
GPathogenic
ELOVL5
(G230V +2 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 38
GPathogenic
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