"Athena Diagnostics"[submitter] AND "GAMT"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 205596	NM_000156.6(GAMT):c.707G>C (p.Gly236Ala)	GAMT (G236A)	Single nucleotide variant (missense variant)	Deficiency of guanidinoacetate methyltransferase	GUncertain significance FDA Recognized database
Select item 205593	NM_000156.6(GAMT):c.670G>A (p.Ala224Thr)	GAMT (A224T)	Single nucleotide variant (missense variant)	Deficiency of guanidinoacetate methyltransferase	GLikely benign FDA Recognized database
Select item 205606	NM_000156.6(GAMT):c.581T>C (p.Val194Ala)	GAMT (V194A)	Single nucleotide variant (missense variant)	Deficiency of guanidinoacetate methyltransferase	GBenign FDA Recognized database
Select item 205582	NM_000156.6(GAMT):c.575C>T (p.Thr192Met)	GAMT (T192M)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 328349	NM_000156.6(GAMT):c.328-10C>T	GAMT	Single nucleotide variant (intron variant)	Cerebral creatine deficiency syndrome +3 more	GConflicting classifications of pathogenicity
Select item 431854	NM_000156.6(GAMT):c.292C>T (p.Arg98Trp)	GAMT (R98W)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 167131	NM_000156.6(GAMT):c.79T>C (p.Tyr27His)	GAMT, LOC130062945 (Y27H)	Single nucleotide variant (missense variant)	Deficiency of guanidinoacetate methyltransferase	GBenign FDA Recognized database

ClinVar