ClinVar for MedGen (Select 343541) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 255474	NM_000178.4(GSS):c.275+20T>G	GSS	Single nucleotide variant (intron variant)	Glutathione synthetase deficiency with 5-oxoprolinuria +4 more	GBenign
Select item 8531	NM_000178.4(GSS):c.656A>G (p.Asp219Gly)	GSS (D219G)	Single nucleotide variant (missense variant)	Inherited glutathione synthetase deficiency	GPathogenic