C2675179[trait identifier] AND "GeneReviews"[submitter] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 55918	NM_001482.3(GATM):c.1111dup (p.Met371fs)	GATM (M371fs +1 more)	Duplication (frameshift variant)	Arginine:glycine amidinotransferase deficiency	GPathogenic FDA Recognized database
Select item 7302	NM_001482.3(GATM):c.446G>A (p.Trp149Ter)	GATM (W149* +1 more)	Single nucleotide variant (nonsense)	Arginine:glycine amidinotransferase deficiency	GPathogenic FDA Recognized database