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Links from MedGen

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GDAP2
(F431V)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive 27
GUncertain significance
GDAP2
Single nucleotide variant
(splice donor variant)
Spinocerebellar ataxia, autosomal recessive 27
GLikely pathogenic
GDAP2
(H400fs)
Insertion
(frameshift variant)
Spinocerebellar ataxia, autosomal recessive 27
GPathogenic
GDAP2
(S436fs)
Duplication
(frameshift variant)
Spinocerebellar ataxia, autosomal recessive 27
GPathogenic
GDAP2
(Q316*)
Single nucleotide variant
(nonsense)
Spinocerebellar ataxia, autosomal recessive 27
GPathogenic
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