"OMIM"[submitter] AND "LOC130062945"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 8305	NM_000156.6(GAMT):c.148A>C (p.Met50Leu)	GAMT, LOC130062945 (M50L)	Single nucleotide variant (missense variant)	Deficiency of guanidinoacetate methyltransferase	GLikely pathogenic FDA Recognized database
Select item 8303	NM_000156.6(GAMT):c.59G>C (p.Trp20Ser)	GAMT, LOC130062945 (W20S)	Single nucleotide variant (missense variant)	Deficiency of guanidinoacetate methyltransferase	GPathogenic FDA Recognized database