C0574080[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1022526	NM_000156.6(GAMT):c.650C>A (p.Pro217Gln)	GAMT (P217Q)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome +1 more	GUncertain significance
Select item 1328978	NM_000156.6(GAMT):c.578A>G (p.Gln193Arg)	GAMT (Q193R)	Single nucleotide variant (missense variant)	Deficiency of guanidinoacetate methyltransferase	GUncertain significance FDA Recognized database
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 205583	NM_000156.6(GAMT):c.511C>G (p.Leu171Val)	GAMT (L171V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 544253	NM_000156.6(GAMT):c.509A>G (p.Asn170Ser)	GAMT (N170S)	Single nucleotide variant (missense variant)	Deficiency of guanidinoacetate methyltransferase +1 more	GUncertain significance
Select item 1022870	NM_000156.6(GAMT):c.493G>A (p.Val165Ile)	GAMT (V165I)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome +2 more	GUncertain significance
Select item 478015	NM_000156.6(GAMT):c.473G>A (p.Arg158His)	GAMT (R158H)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome +1 more	GUncertain significance
Select item 1020905	NM_000156.6(GAMT):c.463C>G (p.His155Asp)	GAMT (H155D)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome +1 more	GUncertain significance
Select item 544257	NM_000156.6(GAMT):c.407C>T (p.Thr136Met)	GAMT (T136M)	Single nucleotide variant (missense variant)	Deficiency of guanidinoacetate methyltransferase	GPathogenic FDA Recognized database
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 21065	NM_000156.6(GAMT):c.327G>A (p.Lys109=)	GAMT	Single nucleotide variant (synonymous variant)	Deficiency of guanidinoacetate methyltransferase	GPathogenic FDA Recognized database
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 1073697	NM_000156.6(GAMT):c.307del (p.Ala103fs)	GAMT (A103fs)	Deletion (frameshift variant)	Deficiency of guanidinoacetate methyltransferase +1 more	GPathogenic/Likely pathogenic
Select item 450527	NM_000156.6(GAMT):c.293G>A (p.Arg98Gln)	GAMT (R98Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 195022	NM_000156.6(GAMT):c.227C>T (p.Ser76Leu)	GAMT (S76L)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 651193	NM_000156.6(GAMT):c.220G>A (p.Ala74Thr)	GAMT (A74T)	Single nucleotide variant (missense variant)	Deficiency of guanidinoacetate methyltransferase +1 more	GUncertain significance
Select item 328352	NM_000156.6(GAMT):c.133T>A (p.Trp45Arg)	GAMT, LOC130062945 (W45R)	Single nucleotide variant (missense variant)	Deficiency of guanidinoacetate methyltransferase	GPathogenic FDA Recognized database
Select item 205574	NM_000156.6(GAMT):c.7G>A (p.Ala3Thr)	GAMT, LOC130062945 (A3T)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome +2 more	GUncertain significance
Select item 328355	NM_000156.6(GAMT):c.-78C>T	GAMT, LOC130062945	Single nucleotide variant	Deficiency of guanidinoacetate methyltransferase	GUncertain significance
Select item 889428	NM_000156.6(GAMT):c.-79G>A	GAMT, LOC130062945	Single nucleotide variant	Deficiency of guanidinoacetate methyltransferase	GUncertain significance

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Items: 20