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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
VWA3B
(Y397* +1 more)
Single nucleotide variant
(nonsense +1 more)
Spinocerebellar ataxia, autosomal recessive 22
GPathogenic/Likely pathogenic
VWA3B
(P680R +1 more)
Single nucleotide variant
(missense variant +1 more)
Spinocerebellar ataxia, autosomal recessive 22
+1 more
GUncertain significance