"Foundation for Research in Genetics and Endocrinology, FRIGE's Instit - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 524215	NM_000169.3(GLA):c.828C>A (p.Ser276Arg)	GLA, RPL36A-HNRNPH2 (S276R)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GLikely pathogenic
Select item 1745537	NM_000169.3(GLA):c.512G>A (p.Gly171Asp)	GLA, RPL36A-HNRNPH2 (G212D +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease +1 more	GLikely pathogenic