C1970820[trait identifier] AND "OMIM"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 10715	NM_000169.3(GLA):c.902G>A (p.Arg301Gln)	GLA, RPL36A-HNRNPH2 (R301Q)	Single nucleotide variant (intron variant +2 more)	not provided +3 more	GPathogenic
Select item 10763	NM_000169.3(GLA):c.888G>A (p.Met296Ile)	RPL36A-HNRNPH2, GLA (M296I)	Single nucleotide variant (missense variant +2 more)	Fabry disease, cardiac variant	GPathogenic
Select item 10717	NM_000169.3(GLA):c.886A>G (p.Met296Val)	GLA, RPL36A-HNRNPH2 (M296V)	Single nucleotide variant (missense variant +2 more)	Fabry disease +1 more	GPathogenic/Likely pathogenic
Select item 10721	NM_000169.3(GLA):c.835C>G (p.Gln279Glu)	GLA, RPL36A-HNRNPH2 (Q279E)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 10768	NM_000169.3(GLA):c.640-801G>A	GLA, RPL36A-HNRNPH2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 222218	NM_000169.3(GLA):c.337T>C (p.Phe113Leu)	GLA, RPL36A-HNRNPH2 (F113L)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +2 more	GPathogenic
Select item 10764	NM_000169.3(GLA):c.58G>C (p.Ala20Pro)	GLA, RPL36A-HNRNPH2 (A20P)	Single nucleotide variant (missense variant +2 more)	Fabry disease, cardiac variant	GPathogenic

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