C0002986[trait identifier] AND "Counsyl"[submitter] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 286849	NM_000169.3(GLA):c.999+2T>C	GLA, RPL36A-HNRNPH2 (V334A)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic
Select item 195028	NM_000169.3(GLA):c.335G>A (p.Arg112His)	GLA, HNRNPH2 +1 more (R112H)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
Select item 370360	NM_000169.3(GLA):c.244A>T (p.Lys82Ter)	GLA, RPL36A-HNRNPH2 (K82*)	Single nucleotide variant (nonsense +2 more)	Fabry disease	GLikely pathogenic

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ClinVar