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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GLA, RPL36A-HNRNPH2
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+4 more
GPathogenic
GLA, RPL36A-HNRNPH2
(A143T +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+5 more
GConflicting classifications of pathogenicity
GLA, RPL36A-HNRNPH2
(R118C +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
+4 more
GConflicting classifications of pathogenicity
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