"Ambry Genetics"[submitter] AND "GAMT"[gene] - ClinVar

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Items: 72

	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 2137773	NM_000156.6(GAMT):c.705A>T (p.Lys235Asn)	GAMT (K235N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1382565	NM_000156.6(GAMT):c.670G>C (p.Ala224Pro)	GAMT (A224P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 544254	NM_000156.6(GAMT):c.662G>A (p.Arg221His)	GAMT (R221H)	Single nucleotide variant (missense variant)	Deficiency of guanidinoacetate methyltransferase +2 more	GUncertain significance
Select item 1754277	NM_000156.6(GAMT):c.657C>A (p.Asp219Glu)	GAMT (D219E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 205569	NM_000156.6(GAMT):c.655G>A (p.Asp219Asn)	GAMT (D219N)	Single nucleotide variant (missense variant)	Deficiency of guanidinoacetate methyltransferase	GUncertain significance FDA Recognized database
Select item 1112447	NM_000156.6(GAMT):c.654C>T (p.Ala218=)	GAMT	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome +1 more	GLikely benign
Select item 1753053	NM_000156.6(GAMT):c.635T>A (p.Met212Lys)	GAMT (M212K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2235372	NM_000156.6(GAMT):c.629A>T (p.Glu210Val)	GAMT (E210V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 577478	NM_000156.6(GAMT):c.623G>A (p.Arg208His)	GAMT (R208H)	Single nucleotide variant (missense variant)	Deficiency of guanidinoacetate methyltransferase	GUncertain significance FDA Recognized database
Select item 2139494	NM_000156.6(GAMT):c.610A>G (p.Arg204Gly)	GAMT (R204G)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome +1 more	GUncertain significance
Select item 2321990	NM_000156.6(GAMT):c.598G>C (p.Ala200Pro)	GAMT (A200P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1750619	NM_000156.6(GAMT):c.593T>G (p.Leu198Arg)	GAMT (L198R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 205588	NM_000156.6(GAMT):c.587C>T (p.Ala196Val)	GAMT (A196V)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome +2 more	GConflicting classifications of pathogenicity
Select item 386261	NM_000156.6(GAMT):c.585C>T (p.Pro195=)	GAMT	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
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 2294234	NM_000156.6(GAMT):c.570+46G>A	GAMT (G206R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 640879	NM_000156.6(GAMT):c.570+5G>A	GAMT (R192H)	Single nucleotide variant (missense variant +1 more)	Cerebral creatine deficiency syndrome +2 more	GUncertain significance
Select item 582572	NM_000156.6(GAMT):c.570+4C>T	GAMT (R192C)	Single nucleotide variant (missense variant +1 more)	Cerebral creatine deficiency syndrome +3 more	GConflicting classifications of pathogenicity
Select item 3098274	NM_000156.6(GAMT):c.553A>G (p.Ile185Val)	GAMT (I185V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 478016	NM_000156.6(GAMT):c.553A>C (p.Ile185Leu)	GAMT (I185L)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome +1 more	GUncertain significance
Select item 706515	NM_000156.6(GAMT):c.529C>T (p.Leu177=)	GAMT	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome +1 more	GLikely benign
Select item 1746223	NM_000156.6(GAMT):c.522G>T (p.Trp174Cys)	GAMT (W174C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 431959	NM_000156.6(GAMT):c.507_521dup (p.Cys169_Ser173dup)	GAMT	Duplication (inframe_insertion)	Deficiency of guanidinoacetate methyltransferase	GLikely pathogenic FDA Recognized database
Select item 205581	NM_000156.6(GAMT):c.491G>A (p.Gly164Asp)	GAMT (G164D)	Single nucleotide variant (missense variant)	Deficiency of guanidinoacetate methyltransferase	GUncertain significance FDA Recognized database
Select item 2060933	NM_000156.6(GAMT):c.466G>A (p.Ala156Thr)	GAMT (A156T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 588400	NM_000156.6(GAMT):c.465C>T (p.His155=)	GAMT	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 589070	NM_000156.6(GAMT):c.464A>T (p.His155Leu)	GAMT (H155L)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome +1 more	GUncertain significance
Select item 1740532	NM_000156.6(GAMT):c.442C>T (p.Gln148Ter)	GAMT (Q148*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 2557112	NM_000156.6(GAMT):c.427A>T (p.Thr143Ser)	GAMT (T143S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1152575	NM_000156.6(GAMT):c.414A>G (p.Pro138=)	GAMT	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 589969	NM_000156.6(GAMT):c.384C>T (p.His128=)	GAMT	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 287314	NM_000156.6(GAMT):c.367A>G (p.Thr123Ala)	GAMT (T123A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 137435	NM_000156.6(GAMT):c.348G>A (p.Leu116=)	GAMT	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome +3 more	GBenign
Select item 1437816	NM_000156.6(GAMT):c.344G>A (p.Gly115Asp)	GAMT (G115D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 2145645	NM_000156.6(GAMT):c.299G>A (p.Arg100Gln)	GAMT (R100Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 205579	NM_000156.6(GAMT):c.298C>T (p.Arg100Trp)	GAMT (R100W)	Single nucleotide variant (missense variant)	not provided +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 205578	NM_000156.6(GAMT):c.291G>T (p.Gln97His)	GAMT (Q97H)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome +2 more	GUncertain significance
Select item 965376	NM_000156.6(GAMT):c.280G>A (p.Gly94Ser)	GAMT (G94S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 137434	NM_000156.6(GAMT):c.279C>T (p.Asp93=)	GAMT	Single nucleotide variant (synonymous variant)	Deficiency of guanidinoacetate methyltransferase	GBenign FDA Recognized database
Select item 916122	NM_000156.6(GAMT):c.268G>A (p.Glu90Lys)	GAMT (E90K)	Single nucleotide variant (missense variant)	Deficiency of guanidinoacetate methyltransferase	GUncertain significance FDA Recognized database
Select item 205576	NM_000156.6(GAMT):c.242C>T (p.Ala81Val)	GAMT (A81V)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
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 137433	NM_000156.6(GAMT):c.225G>A (p.Ala75=)	GAMT	Single nucleotide variant (synonymous variant)	Deficiency of guanidinoacetate methyltransferase	GLikely benign FDA Recognized database
Select item 588825	NM_000156.6(GAMT):c.219C>T (p.Ile73=)	GAMT	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 211060	NM_000156.6(GAMT):c.217A>G (p.Ile73Val)	GAMT (I73V)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome +2 more	GUncertain significance
Select item 237120	NM_000156.6(GAMT):c.211A>G (p.Met71Val)	GAMT (M71V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 288963	NM_000156.6(GAMT):c.189G>C (p.Arg63=)	GAMT	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 999486	NM_000156.6(GAMT):c.187C>T (p.Arg63Trp)	GAMT (R63W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 640432	NM_000156.6(GAMT):c.172TCC[3] (p.Ser59dup)	GAMT, LOC130062945	Microsatellite (inframe_insertion)	not provided +3 more	GUncertain significance
Select item 589883	NM_000156.6(GAMT):c.122T>C (p.Val41Ala)	GAMT, LOC130062945 (V41A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1766473	NM_000156.6(GAMT):c.92A>T (p.Asp31Val)	GAMT, LOC130062945 (D31V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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
Select item 2297689	NM_000156.6(GAMT):c.62G>A (p.Gly21Glu)	GAMT, LOC130062945 (G21E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 588631	NM_000156.6(GAMT):c.59G>T (p.Trp20Leu)	GAMT, LOC130062945 (W20L)	Single nucleotide variant (missense variant)	Deficiency of guanidinoacetate methyltransferase	GUncertain significance 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 941294	NM_000156.6(GAMT):c.41A>G (p.Glu14Gly)	GAMT, LOC130062945 (E14G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 544263	NM_000156.6(GAMT):c.39C>A (p.Gly13=)	GAMT, LOC130062945	Single nucleotide variant (synonymous variant)	Deficiency of guanidinoacetate methyltransferase	GLikely benign FDA Recognized database
Select item 449597	NM_000156.6(GAMT):c.25A>G (p.Ile9Val)	GAMT, LOC130062945 (I9V)	Single nucleotide variant (missense variant)	Deficiency of guanidinoacetate methyltransferase +4 more	GUncertain significance
Select item 850261	NM_000156.6(GAMT):c.24del (p.Ile9fs)	GAMT, LOC130062945 (I9fs)	Deletion (frameshift variant)	Cerebral creatine deficiency syndrome +4 more	GPathogenic/Likely pathogenic
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
Select item 328354	NM_000156.6(GAMT):c.20C>A (p.Thr7Asn)	GAMT, LOC130062945 (T7N)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome +2 more	GUncertain significance
Select item 205597	NM_000156.6(GAMT):c.17C>T (p.Ala6Val)	GAMT, LOC130062945 (A6V)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome +2 more	GUncertain significance
Select item 1416096	NM_000156.6(GAMT):c.16G>A (p.Ala6Thr)	GAMT, LOC130062945 (A6T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1063892	NM_000156.6(GAMT):c.8C>T (p.Ala3Val)	GAMT, LOC130062945 (A3V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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

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Items: 72