"Athena Diagnostics"[submitter] AND "GSDME"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 804739	NM_001127453.2(GSDME):c.1199_1200inv (p.Ala400Val)	GSDME (A400V +1 more)	Inversion (missense variant)	not provided	GBenign
Select item 2684170	NM_001127453.2(GSDME):c.1184-6C>T	GSDME	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 804738	NM_001127453.2(GSDME):c.1122C>G (p.Pro374=)	GSDME	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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