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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TGM6
(R111C)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 35
GPathogenic
TGM6
(D327G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TGM6
(D510H)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 35
+1 more
GUncertain significance
TGM6
(L517W)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
TGM6
(E574del)
Microsatellite
(inframe_deletion)
Spinocerebellar ataxia type 35
GPathogenic
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