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Items: 7

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
(K308N)
Single nucleotide variant
(missense variant +2 more)
Fabry disease
GLikely pathogenic
GLA, RPL36A-HNRNPH2
(Q279*)
Single nucleotide variant
(nonsense +2 more)
Fabry disease
GPathogenic
GLA, RPL36A-HNRNPH2
(G261V)
Single nucleotide variant
(missense variant +2 more)
Fabry disease
GPathogenic/Likely pathogenic
GLA, RPL36A-HNRNPH2
(G171S)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GLikely pathogenic
GLA, RPL36A-HNRNPH2
(Y151*)
Single nucleotide variant
(nonsense +2 more)
Fabry disease
GPathogenic
GLA, RPL36A-HNRNPH2
(C94S)
Single nucleotide variant
(missense variant +2 more)
Fabry disease
GLikely pathogenic
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