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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GLA, RPL36A-HNRNPH2
(R363H +1 more)
Single nucleotide variant
(missense variant +2 more)
Fabry disease
+1 more
GPathogenic/Likely pathogenic
GLA, RPL36A-HNRNPH2
(M296V +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GPathogenic/Likely pathogenic