"Genetic Services Laboratory, University of Chicago"[submitter] AND "G - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 21068	NM_000156.6(GAMT):c.626C>T (p.Thr209Met)	GAMT, NDUFS7 (T209M)	Single nucleotide variant (missense variant)	Deficiency of guanidinoacetate methyltransferase	GBenign FDA Recognized database
Select item 129130	NM_000156.6(GAMT):c.571-6G>A	NDUFS7, GAMT	Single nucleotide variant (intron variant)	Cerebral creatine deficiency syndrome +4 more	GBenign/Likely benign
Select item 137436	NM_000156.6(GAMT):c.392-7C>T	GAMT	Single nucleotide variant (intron variant)	Deficiency of guanidinoacetate methyltransferase	GBenign FDA Recognized database
Select item 205567	NM_000156.6(GAMT):c.379G>A (p.Gly127Ser)	GAMT (G127S)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 478013	NM_000156.6(GAMT):c.258T>C (p.His86=)	GAMT	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome +1 more	GLikely benign
Select item 211060	NM_000156.6(GAMT):c.217A>G (p.Ile73Val)	GAMT (I73V)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 167131	NM_000156.6(GAMT):c.79T>C (p.Tyr27His)	LOC130062945, GAMT (Y27H)	Single nucleotide variant (missense variant)	Deficiency of guanidinoacetate methyltransferase	GBenign FDA Recognized database

ClinVar