"CeMIA"[submitter] AND "GLA"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 10738	NM_000169.3(GLA):c.937G>T (p.Asp313Tyr)	GLA, RPL36A-HNRNPH2 (D313Y +1 more)	Single nucleotide variant (missense variant +2 more)	Hypertrophic cardiomyopathy +6 more	GConflicting classifications of pathogenicity; other
Select item 1064719	NM_000169.3(GLA):c.924A>C (p.Lys308Asn)	GLA, RPL36A-HNRNPH2 (K308N +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GLikely pathogenic
Select item 1064717	NM_000169.3(GLA):c.835C>T (p.Gln279Ter)	GLA, RPL36A-HNRNPH2 (Q279* +1 more)	Single nucleotide variant (nonsense +2 more)	Fabry disease	GPathogenic
Select item 222387	NM_000169.3(GLA):c.782G>T (p.Gly261Val)	GLA, RPL36A-HNRNPH2 (G261V +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GPathogenic/Likely pathogenic
Select item 222274	NM_000169.3(GLA):c.511G>A (p.Gly171Ser)	GLA, RPL36A-HNRNPH2 (G171S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GLikely pathogenic
Select item 1064716	NM_000169.3(GLA):c.453C>G (p.Tyr151Ter)	GLA, RPL36A-HNRNPH2 (Y151* +1 more)	Single nucleotide variant (nonsense +2 more)	Fabry disease	GPathogenic
Select item 1064718	NM_000169.3(GLA):c.280T>A (p.Cys94Ser)	GLA, RPL36A-HNRNPH2 (C94S +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GLikely pathogenic

ClinVar