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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GLA, RPL36A-HNRNPH2
(N272S +1 more)
Single nucleotide variant
(missense variant +2 more)
Fabry disease
GPathogenic/Likely pathogenic
GLA, RPL36A-HNRNPH2
(A230T +1 more)
Single nucleotide variant
(missense variant +2 more)
Fabry disease
GLikely pathogenic
RPL36A-HNRNPH2, GLA
(R118C +1 more)
Single nucleotide variant
(missense variant +2 more)
Fabry disease
+4 more
GConflicting classifications of pathogenicity
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