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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GLA, RPL36A-HNRNPH2
(R342* +1 more)
Single nucleotide variant
(nonsense +2 more)
not provided
+2 more
GPathogenic
GLA, RPL36A-HNRNPH2
(A143T +1 more)
Single nucleotide variant
(missense variant +2 more)
Primary familial hypertrophic cardiomyopathy
+5 more
GConflicting classifications of pathogenicity