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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ITPR1
(R241K)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 29
GPathogenic/Likely pathogenic
ITPR1
(T267M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity