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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GLA, RPL36A-HNRNPH2
(D313Y)
Single nucleotide variant
(missense variant +2 more)
Cardiovascular phenotype
+6 more
GConflicting classifications of pathogenicity; other
GLA, RPL36A-HNRNPH2
(A143T)
Single nucleotide variant
(missense variant +2 more)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
HNRNPH2, RPL36A-HNRNPH2
(R206W)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+6 more
GPathogenic/Likely pathogenic
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