"Revvity Omics, Revvity"[submitter] AND "GAMT"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 205584	NM_000156.6(GAMT):c.522G>A (p.Trp174Ter)	GAMT (W174*)	Single nucleotide variant (nonsense)	Deficiency of guanidinoacetate methyltransferase	GPathogenic FDA Recognized database
Select item 8304	NM_000156.6(GAMT):c.506G>A (p.Cys169Tyr)	GAMT (C169Y)	Single nucleotide variant (missense variant)	Deficiency of guanidinoacetate methyltransferase	GLikely pathogenic FDA Recognized database
Select item 2689111	NM_000156.6(GAMT):c.421GAG[1] (p.Glu142del)	GAMT (E142del)	Microsatellite (inframe_deletion)	Deficiency of guanidinoacetate methyltransferase	GUncertain significance
Select item 573140	NM_000156.6(GAMT):c.403G>A (p.Asp135Asn)	GAMT (D135N)	Single nucleotide variant (missense variant)	Deficiency of guanidinoacetate methyltransferase	GPathogenic FDA Recognized database
Select item 947458	NM_000156.6(GAMT):c.402C>G (p.Tyr134Ter)	GAMT (Y134*)	Single nucleotide variant (nonsense)	Deficiency of guanidinoacetate methyltransferase	GPathogenic FDA Recognized database
Select item 2432033	NM_000156.6(GAMT):c.339G>C (p.Leu113Phe)	GAMT (L113F)	Single nucleotide variant (missense variant)	Deficiency of guanidinoacetate methyltransferase	GUncertain significance
Select item 2003951	NM_000156.6(GAMT):c.332_338del (p.Ile111fs)	GAMT (I111fs)	Deletion (frameshift variant)	Cerebral creatine deficiency syndrome +1 more	GPathogenic/Likely pathogenic
Select item 8302	NM_000156.6(GAMT):c.299_311dup (p.Arg105fs)	GAMT (R105fs)	Duplication (frameshift variant)	Deficiency of guanidinoacetate methyltransferase	GPathogenic FDA Recognized database
Select item 205579	NM_000156.6(GAMT):c.298C>T (p.Arg100Trp)	GAMT (R100W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 939992	NM_000156.6(GAMT):c.91_92insCACGG (p.Asp31fs)	GAMT, LOC130062945 (D31fs)	Insertion (frameshift 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
Select item 1432920	NM_000156.6(GAMT):c.42G>C (p.Glu14Asp)	LOC130062945, GAMT (E14D)	Single nucleotide variant (missense variant)	Deficiency of guanidinoacetate methyltransferase +1 more	GUncertain significance
Select item 205598	NM_000156.6(GAMT):c.22C>A (p.Pro8Thr)	GAMT, LOC130062945 (P8T)	Single nucleotide variant (missense variant)	Deficiency of guanidinoacetate methyltransferase	GUncertain significance FDA Recognized database