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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ITPR1
(K258M)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 15/16
GLikely pathogenic
ITPR1
(R269W)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 29
+5 more
GPathogenic/Likely pathogenic
ITPR1
(V1553M +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GPathogenic
EGOT, ITPR1
Copy number loss
Spinocerebellar ataxia type 15/16
GLikely pathogenic
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