"Fulgent Genetics, Fulgent Genetics"[submitter] AND "GAMT"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

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)	Cerebral creatine deficiency syndrome +2 more	GUncertain significance
Select item 544253	NM_000156.6(GAMT):c.509A>G (p.Asn170Ser)	GAMT (N170S)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome +1 more	GUncertain significance
Select item 1022870	NM_000156.6(GAMT):c.493G>A (p.Val165Ile)	GAMT (V165I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 478015	NM_000156.6(GAMT):c.473G>A (p.Arg158His)	GAMT (R158H)	Single nucleotide variant (missense variant)	Deficiency of guanidinoacetate methyltransferase +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)	Cerebral creatine deficiency syndrome +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)	Inborn genetic diseases +3 more	GUncertain significance
Select item 651193	NM_000156.6(GAMT):c.220G>A (p.Ala74Thr)	GAMT (A74T)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome +1 more	GUncertain significance
Select item 328352	NM_000156.6(GAMT):c.133T>A (p.Trp45Arg)	LOC130062945, GAMT (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_000156.5(GAMT):c.-78C>T	LOC130062945, GAMT	Single nucleotide variant	Deficiency of guanidinoacetate methyltransferase	GUncertain significance
Select item 889428	NM_000156.5(GAMT):c.-79G>A	GAMT, LOC130062945	Single nucleotide variant	Deficiency of guanidinoacetate methyltransferase	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 20