"Eurofins Ntd Llc (ga)"[submitter] AND "GATM"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 598112	NM_001482.3(GATM):c.1237C>T (p.Arg413Trp)	GATM (R413W +1 more)	Single nucleotide variant (missense variant)	Arginine:glycine amidinotransferase deficiency	GLikely pathogenic FDA Recognized database
Select item 498635	NM_001482.3(GATM):c.1106G>A (p.Arg369His)	GATM (R369H +1 more)	Single nucleotide variant (missense variant)	Arginine:glycine amidinotransferase deficiency +2 more	GUncertain significance
Select item 198135	NM_001482.3(GATM):c.869G>C (p.Arg290Thr)	GATM (R290T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 198134	NM_001482.3(GATM):c.844C>T (p.Arg282Cys)	GATM (R282C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 205616	NM_001482.3(GATM):c.692C>G (p.Ser231Cys)	GATM (S231C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 137449	NM_001482.3(GATM):c.669T>C (p.Tyr223=)	GATM	Single nucleotide variant (synonymous variant)	Arginine:glycine amidinotransferase deficiency	GBenign FDA Recognized database
Select item 423739	NM_001482.3(GATM):c.160G>A (p.Asp54Asn)	GATM (D54N)	Single nucleotide variant (5 prime UTR variant +1 more)	Arginine:glycine amidinotransferase deficiency +2 more	GUncertain significance

ClinVar