ClinVar for MedGen (Select 154356) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064200	NM_000156.6(GAMT):c.403G>C (p.Asp135His)	GAMT (D135H)	Single nucleotide variant (missense variant)	Deficiency of guanidinoacetate methyltransferase	GPathogenic
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 2683728	NM_000156.6(GAMT):c.233T>A (p.Val78Glu)	GAMT (V78E)	Single nucleotide variant (missense variant)	Deficiency of guanidinoacetate methyltransferase	GLikely pathogenic FDA Recognized database
Select item 2683727	NM_000156.6(GAMT):c.115A>G (p.Lys39Glu)	GAMT, LOC130062945 (K39E)	Single nucleotide variant (missense variant)	Deficiency of guanidinoacetate methyltransferase	GLikely pathogenic FDA Recognized database
Select item 2683726	NM_000156.6(GAMT):c.571G>A (p.Glu191Lys)	GAMT (E191K)	Single nucleotide variant (missense variant)	Deficiency of guanidinoacetate methyltransferase	GUncertain significance FDA Recognized database
Select item 2675839	NM_000156.6(GAMT):c.50del (p.Ser17fs)	GAMT, LOC130062945 (S17fs)	Deletion (frameshift variant)	Deficiency of guanidinoacetate methyltransferase +1 more	GPathogenic/Likely pathogenic
Select item 2675838	NM_000156.6(GAMT):c.411C>G (p.Tyr137Ter)	GAMT (Y137*)	Single nucleotide variant (nonsense)	Deficiency of guanidinoacetate methyltransferase	GLikely pathogenic
Select item 2675837	NM_000156.6(GAMT):c.235C>T (p.Gln79Ter)	GAMT (Q79*)	Single nucleotide variant (nonsense)	Deficiency of guanidinoacetate methyltransferase	GPathogenic FDA Recognized database
Select item 2675836	NM_000156.6(GAMT):c.113dup (p.Lys39fs)	GAMT, LOC130062945 (K39fs)	Duplication (frameshift variant)	Deficiency of guanidinoacetate methyltransferase	GLikely pathogenic
Select item 2570640	NM_000156.6(GAMT):c.610_611delinsGAA (p.Arg204fs)	GAMT (R204fs)	Indel (frameshift variant)	Deficiency of guanidinoacetate methyltransferase	GLikely pathogenic FDA Recognized database
Select item 2570639	NM_000156.6(GAMT):c.595dup (p.Glu199fs)	GAMT (E199fs)	Duplication (frameshift variant)	Deficiency of guanidinoacetate methyltransferase	GLikely pathogenic FDA Recognized database
Select item 2570638	NM_000156.6(GAMT):c.590T>C (p.Leu197Pro)	GAMT (L197P)	Single nucleotide variant (missense variant)	Deficiency of guanidinoacetate methyltransferase	GLikely pathogenic FDA Recognized database
Select item 2570637	NM_000156.6(GAMT):c.58dup (p.Trp20fs)	GAMT, LOC130062945 (W20fs)	Duplication (frameshift variant)	Deficiency of guanidinoacetate methyltransferase	GPathogenic FDA Recognized database
Select item 2570636	NM_000156.6(GAMT):c.564G>T (p.Met188Ile)	GAMT (M188I)	Single nucleotide variant (missense variant)	Deficiency of guanidinoacetate methyltransferase	GLikely pathogenic FDA Recognized database
Select item 2503890	NM_000156.6(GAMT):c.577C>T (p.Gln193Ter)	GAMT (Q193*)	Single nucleotide variant (nonsense)	Deficiency of guanidinoacetate methyltransferase	GPathogenic
Select item 2501048	NM_000156.6(GAMT):c.11_12del (p.Pro4fs)	GAMT, LOC130062945 (P4fs)	Deletion (frameshift variant)	Deficiency of guanidinoacetate methyltransferase	GLikely pathogenic
Select item 2446460	NM_000156.6(GAMT):c.439C>T (p.His147Tyr)	GAMT (H147Y)	Single nucleotide variant (missense variant)	Deficiency of guanidinoacetate methyltransferase	GLikely pathogenic FDA Recognized database
Select item 2446459	NM_000156.6(GAMT):c.403G>T (p.Asp135Tyr)	GAMT (D135Y)	Single nucleotide variant (missense variant)	Deficiency of guanidinoacetate methyltransferase	GLikely pathogenic FDA Recognized database
Select item 2446458	NM_000156.6(GAMT):c.391G>C (p.Gly131Arg)	GAMT (G131R)	Single nucleotide variant (missense variant)	Deficiency of guanidinoacetate methyltransferase	GLikely pathogenic FDA Recognized database
Select item 2446457	NM_000156.6(GAMT):c.220G>C (p.Ala74Pro)	GAMT (A74P)	Single nucleotide variant (missense variant)	Deficiency of guanidinoacetate methyltransferase	GLikely pathogenic FDA Recognized database
Select item 2446456	NM_000156.6(GAMT):c.202G>T (p.Gly68Cys)	GAMT (G68C)	Single nucleotide variant (missense variant)	Deficiency of guanidinoacetate methyltransferase	GLikely pathogenic FDA Recognized database
Select item 2446455	NM_000156.6(GAMT):c.170C>A (p.Ala57Asp)	GAMT, LOC130062945 (A57D)	Single nucleotide variant (missense variant)	Deficiency of guanidinoacetate methyltransferase	GUncertain significance FDA Recognized database
Select item 2446454	NM_000156.6(GAMT):c.160G>C (p.Ala54Pro)	GAMT, LOC130062945 (A54P)	Single nucleotide variant (missense variant)	Deficiency of guanidinoacetate methyltransferase	GLikely pathogenic FDA Recognized database
Select item 2446453	NM_000156.6(GAMT):c.274A>G (p.Asn92Asp)	GAMT (N92D)	Single nucleotide variant (missense variant)	Deficiency of guanidinoacetate methyltransferase	GUncertain significance 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 2421360	NM_000156.6(GAMT):c.522G>C (p.Trp174Cys)	GAMT (W174C)	Single nucleotide variant (missense variant)	Deficiency of guanidinoacetate methyltransferase	GUncertain significance FDA Recognized database
Select item 2419155	NM_000156.6(GAMT):c.134G>A (p.Trp45Ter)	GAMT, LOC130062945 (W45*)	Single nucleotide variant (nonsense)	Deficiency of guanidinoacetate methyltransferase	GPathogenic FDA Recognized database
Select item 2412845	NM_000156.6(GAMT):c.48C>A (p.Cys16Ter)	GAMT, LOC130062945 (C16*)	Single nucleotide variant (nonsense)	Deficiency of guanidinoacetate methyltransferase	GPathogenic FDA Recognized database
Select item 2138184	NM_000156.6(GAMT):c.152A>C (p.His51Pro)	GAMT, LOC130062945 (H51P)	Single nucleotide variant (missense variant)	Deficiency of guanidinoacetate methyltransferase	GLikely pathogenic FDA Recognized database
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 1705080	NM_000156.6(GAMT):c.475del (p.Leu159fs)	GAMT (L159fs)	Deletion (frameshift variant)	Deficiency of guanidinoacetate methyltransferase +1 more	GPathogenic/Likely pathogenic
Select item 1460109	NM_000156.6(GAMT):c.350G>A (p.Trp117Ter)	GAMT (W117*)	Single nucleotide variant (nonsense)	Cerebral creatine deficiency syndrome +1 more	GPathogenic/Likely pathogenic
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 1420866	NM_000156.6(GAMT):c.520T>C (p.Trp174Arg)	GAMT (W174R)	Single nucleotide variant (missense variant)	Deficiency of guanidinoacetate methyltransferase	GLikely pathogenic FDA Recognized database
Select item 1409758	NM_000156.6(GAMT):c.526dup (p.Glu176fs)	GAMT (E176fs)	Duplication (frameshift variant)	Deficiency of guanidinoacetate methyltransferase	GPathogenic FDA Recognized database
Select item 1402763	NM_000156.6(GAMT):c.64dup (p.Ala22fs)	GAMT, LOC130062945 (A22fs)	Duplication (frameshift variant)	Deficiency of guanidinoacetate methyltransferase	GPathogenic FDA Recognized database
Select item 1392424	NM_000156.6(GAMT):c.570+1G>A	GAMT (V191M)	Single nucleotide variant (missense variant +1 more)	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 1382497	NM_000156.6(GAMT):c.402C>A (p.Tyr134Ter)	GAMT (Y134*)	Single nucleotide variant (nonsense)	Deficiency of guanidinoacetate methyltransferase +1 more	GPathogenic/Likely pathogenic
Select item 1335317	NM_000156.6(GAMT):c.476T>C (p.Leu159Pro)	GAMT (L159P)	Single nucleotide variant (missense variant)	Deficiency of guanidinoacetate methyltransferase	GLikely pathogenic FDA Recognized database
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 1312506	NM_000156.6(GAMT):c.497T>C (p.Leu166Pro)	GAMT (L166P)	Single nucleotide variant (missense variant)	Deficiency of guanidinoacetate methyltransferase	GLikely pathogenic FDA Recognized database
Select item 1312504	NM_000156.6(GAMT):c.609dup (p.Arg204fs)	GAMT (R204fs)	Duplication (frameshift variant)	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 1184667	NM_000156.6(GAMT):c.391+47A>G	GAMT	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1184466	NM_000156.6(GAMT):c.313_314insTG (p.Arg105fs)	GAMT (R105fs)	Insertion (frameshift variant)	Deficiency of guanidinoacetate methyltransferase	GPathogenic
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 1116469	NM_000156.6(GAMT):c.486G>A (p.Pro162=)	GAMT	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 1098275	NM_000156.6(GAMT):c.181G>A (p.Gly61Arg)	GAMT, LOC130062945 (G61R)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome +1 more	GLikely pathogenic
Select item 1098274	NM_000156.6(GAMT):c.158_181+7del	GAMT, LOC130062945	Deletion (splice donor variant)	Deficiency of guanidinoacetate methyltransferase	GPathogenic
Select item 1075655	NM_000156.6(GAMT):c.289C>T (p.Gln97Ter)	GAMT (Q97*)	Single nucleotide variant (nonsense)	Deficiency of guanidinoacetate methyltransferase +1 more	GPathogenic
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 1073500	NM_000156.6(GAMT):c.324_325del (p.His108fs)	GAMT (H108fs)	Microsatellite (frameshift variant)	Deficiency of guanidinoacetate methyltransferase +1 more	GPathogenic/Likely pathogenic
Select item 1070918	NM_000156.6(GAMT):c.356dup (p.Asp119fs)	GAMT (D119fs)	Duplication (frameshift variant)	Deficiency of guanidinoacetate methyltransferase +1 more	GPathogenic/Likely pathogenic
Select item 1069228	NM_000156.6(GAMT):c.59G>A (p.Trp20Ter)	GAMT, LOC130062945 (W20*)	Single nucleotide variant (nonsense)	Deficiency of guanidinoacetate methyltransferase +1 more	GPathogenic/Likely pathogenic
Select item 1067935	NM_000156.6(GAMT):c.526del (p.Glu176fs)	GAMT (E176fs)	Deletion (frameshift variant)	Deficiency of guanidinoacetate methyltransferase	GLikely pathogenic FDA Recognized database
Select item 1066693	NM_000156.6(GAMT):c.327+1G>T	GAMT	Single nucleotide variant (splice donor variant)	Deficiency of guanidinoacetate methyltransferase +1 more	GLikely pathogenic
Select item 1034093	NM_000156.6(GAMT):c.182-3_182dup	GAMT	Duplication (splice acceptor variant)	Deficiency of guanidinoacetate methyltransferase	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 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 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 999486	NM_000156.6(GAMT):c.187C>T (p.Arg63Trp)	GAMT (R63W)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 990516	NM_000156.6(GAMT):c.702C>T (p.Thr234=)	GAMT	Single nucleotide variant (synonymous variant)	Deficiency of guanidinoacetate methyltransferase	GUncertain significance
Select item 982789	NM_000156.6(GAMT):c.442dup (p.Gln148fs)	GAMT (Q148fs)	Duplication (frameshift variant)	Cerebral creatine deficiency syndrome +1 more	GPathogenic
Select item 975394	NM_000156.6(GAMT):c.392-2A>G	GAMT	Single nucleotide variant (splice acceptor variant)	Cerebral creatine deficiency syndrome +1 more	GLikely pathogenic
Select item 971738	NM_000156.6(GAMT):c.560T>C (p.Ile187Thr)	GAMT (I187T)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 971375	NM_000156.6(GAMT):c.586G>A (p.Ala196Thr)	GAMT (A196T)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 970545	NM_000156.6(GAMT):c.638C>T (p.Ala213Val)	GAMT (A213V)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 966479	NM_000156.6(GAMT):c.106A>G (p.Ile36Val)	LOC130062945, GAMT (I36V)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 966083	NM_000156.6(GAMT):c.521G>T (p.Trp174Leu)	GAMT (W174L)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 965660	NM_000156.6(GAMT):c.283G>A (p.Val95Ile)	GAMT (V95I)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 965376	NM_000156.6(GAMT):c.280G>A (p.Gly94Ser)	GAMT (G94S)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 962059	NM_000156.6(GAMT):c.327+5C>T	GAMT	Single nucleotide variant (intron variant)	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 951743	NM_000156.6(GAMT):c.347T>G (p.Leu116Arg)	GAMT (L116R)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome	GUncertain significance
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 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 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 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 891815	NM_000156.6(GAMT):c.*239C>T	GAMT	Single nucleotide variant (3 prime UTR variant)	Deficiency of guanidinoacetate methyltransferase	GUncertain significance
Select item 891814	NM_000156.6(GAMT):c.*292C>T	GAMT	Single nucleotide variant (3 prime UTR variant)	Deficiency of guanidinoacetate methyltransferase	GUncertain significance
Select item 891607	NM_000156.6(GAMT):c.372G>A (p.Leu124=)	GAMT	Single nucleotide variant (synonymous variant)	Deficiency of guanidinoacetate methyltransferase +1 more	GConflicting classifications of pathogenicity
Select item 889428	NM_000156.5(GAMT):c.-79G>A	GAMT, LOC130062945	Single nucleotide variant	Deficiency of guanidinoacetate methyltransferase	GUncertain significance
Select item 889370	NM_000156.6(GAMT):c.*69G>A	GAMT	Single nucleotide variant (3 prime UTR variant)	Deficiency of guanidinoacetate methyltransferase	GUncertain significance
Select item 889369	NM_000156.6(GAMT):c.*89C>A	GAMT	Single nucleotide variant (3 prime UTR variant)	Deficiency of guanidinoacetate methyltransferase +1 more	GLikely benign
Select item 889368	NM_000156.6(GAMT):c.*116C>T	GAMT	Single nucleotide variant (3 prime UTR variant)	Deficiency of guanidinoacetate methyltransferase	GUncertain significance
Select item 889367	NM_000156.6(GAMT):c.*136C>A	GAMT	Single nucleotide variant (3 prime UTR variant)	Deficiency of guanidinoacetate methyltransferase	GLikely benign
Select item 859734	NM_000156.6(GAMT):c.570+5G>T	GAMT (R192L)	Single nucleotide variant (missense variant +1 more)	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 859071	NM_000156.6(GAMT):c.392-9T>G	GAMT	Single nucleotide variant (intron variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 858462	NM_000156.6(GAMT):c.11_36dup (p.Gly13fs)	GAMT, LOC130062945 (G13fs)	Duplication (frameshift variant)	Deficiency of guanidinoacetate methyltransferase	GPathogenic FDA Recognized database
Select item 856428	NM_000156.6(GAMT):c.46T>G (p.Cys16Gly)	LOC130062945, GAMT (C16G)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 854826	NM_000156.6(GAMT):c.301del (p.Asp101fs)	GAMT (D101fs)	Deletion (frameshift variant)	Cerebral creatine deficiency syndrome +1 more	GPathogenic/Likely pathogenic
Select item 854099	NM_000156.6(GAMT):c.328-2A>G	GAMT	Single nucleotide variant (splice acceptor variant)	Deficiency of guanidinoacetate methyltransferase	GPathogenic FDA Recognized database
Select item 851543	NM_000156.6(GAMT):c.182-2A>G	GAMT	Single nucleotide variant (splice acceptor variant)	Cerebral creatine deficiency syndrome +1 more	GPathogenic/Likely pathogenic
Select item 850261	NM_000156.6(GAMT):c.24del (p.Ile9fs)	GAMT, LOC130062945 (I9fs)	Deletion (frameshift variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 849693	NM_000156.6(GAMT):c.261G>A (p.Trp87Ter)	GAMT (W87*)	Single nucleotide variant (nonsense)	Deficiency of guanidinoacetate methyltransferase	GLikely pathogenic FDA Recognized database
Select item 844968	NM_000156.6(GAMT):c.328-1G>A	GAMT	Single nucleotide variant (splice acceptor variant)	Deficiency of guanidinoacetate methyltransferase	GLikely pathogenic FDA Recognized database
Select item 818179	NM_000156.6(GAMT):c.505T>C (p.Cys169Arg)	GAMT (C169R)	Single nucleotide variant (missense variant)	Deficiency of guanidinoacetate methyltransferase	GLikely pathogenic FDA Recognized database
Select item 810628	NM_000156.6(GAMT):c.491del (p.Gly164fs)	GAMT (G164fs)	Deletion (frameshift variant)	Deficiency of guanidinoacetate methyltransferase	GPathogenic FDA Recognized database
Select item 801414	NM_000156.6(GAMT):c.521G>A (p.Trp174Ter)	GAMT (W174*)	Single nucleotide variant (nonsense)	Deficiency of guanidinoacetate methyltransferase +2 more	GPathogenic
Select item 700792	NM_000156.6(GAMT):c.201G>A (p.Val67=)	GAMT	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 699986	NM_000156.6(GAMT):c.408G>A (p.Thr136=)	GAMT	Single nucleotide variant (synonymous variant)	Deficiency of guanidinoacetate methyltransferase	GLikely benign FDA Recognized database
Select item 696471	NM_000156.6(GAMT):c.54C>T (p.Pro18=)	GAMT, LOC130062945	Single nucleotide variant (synonymous variant)	Deficiency of guanidinoacetate methyltransferase	GLikely benign FDA Recognized database

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