Related gene-specific medical variations for Gene (Select 2593) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3343401	NM_000156.6(GAMT):c.37G>C (p.Gly13Arg)	GAMT, LOC130062945 (G13R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337135	NM_000156.6(GAMT):c.138G>C (p.Glu46Asp)	GAMT, LOC130062945 (E46D)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3248519	NC_000019.9:g.(?_1399127)_(1401720_?)del	GAMT	Deletion	Cerebral creatine deficiency syndrome	GPathogenic
Select item 3241678	NM_000156.6(GAMT):c.148_149dup (p.Met50fs)	GAMT, LOC130062945 (M50fs)	Microsatellite (frameshift variant)	Deficiency of guanidinoacetate methyltransferase	GLikely pathogenic
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 3002553	NM_000156.6(GAMT):c.181+13C>G	GAMT, LOC130062945	Single nucleotide variant (intron variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2918600	NM_000156.6(GAMT):c.168C>T (p.Ala56=)	GAMT, LOC130062945	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2876649	NM_000156.6(GAMT):c.81C>T (p.Tyr27=)	GAMT, LOC130062945	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2844623	NM_000156.6(GAMT):c.144del (p.Tyr49fs)	GAMT, LOC130062945 (Y49fs)	Deletion (frameshift variant)	Cerebral creatine deficiency syndrome	GPathogenic
Select item 2821427	NM_000156.6(GAMT):c.181+12C>T	GAMT, LOC130062945	Single nucleotide variant (intron variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2820259	NM_000156.6(GAMT):c.72C>A (p.Pro24=)	GAMT, LOC130062945	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2816495	NM_000156.6(GAMT):c.144C>T (p.Pro48=)	GAMT, LOC130062945	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2813493	NM_000156.6(GAMT):c.69G>C (p.Ala23=)	GAMT, LOC130062945	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2811055	NM_000156.6(GAMT):c.39C>G (p.Gly13=)	GAMT, LOC130062945	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2796476	NM_000156.6(GAMT):c.181+8C>T	GAMT, LOC130062945	Single nucleotide variant (intron variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2765117	NM_000156.6(GAMT):c.21C>A (p.Thr7=)	GAMT, LOC130062945	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
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 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 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 2675836	NM_000156.6(GAMT):c.113dup (p.Lys39fs)	GAMT, LOC130062945 (K39fs)	Duplication (frameshift variant)	Deficiency of guanidinoacetate methyltransferase	GLikely pathogenic
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 2501048	NM_000156.6(GAMT):c.11_12del (p.Pro4fs)	GAMT, LOC130062945 (P4fs)	Deletion (frameshift variant)	Deficiency of guanidinoacetate methyltransferase	GLikely pathogenic
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 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 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 2413361	NM_000156.6(GAMT):c.155C>G (p.Ala52Gly)	GAMT, LOC130062945 (A52G)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome	GUncertain significance
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 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 2192764	NM_000156.6(GAMT):c.10C>T (p.Pro4Ser)	GAMT, LOC130062945 (P4S)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 2189402	NM_000156.6(GAMT):c.157_158inv (p.Leu53Arg)	GAMT, LOC130062945 (L53R)	Inversion (missense variant)	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 2164666	NM_000156.6(GAMT):c.66G>T (p.Ala22=)	GAMT, LOC130062945	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2143904	NM_000156.6(GAMT):c.112G>A (p.Gly38Ser)	GAMT, LOC130062945 (G38S)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome	GUncertain significance
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 2136398	NM_000156.6(GAMT):c.119C>G (p.Pro40Arg)	GAMT, LOC130062945 (P40R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2123720	NM_000156.6(GAMT):c.82dup (p.Asp28fs)	GAMT, LOC130062945 (D28fs)	Duplication (frameshift variant)	Cerebral creatine deficiency syndrome	GPathogenic
Select item 2098482	NM_000156.6(GAMT):c.18G>A (p.Ala6=)	GAMT, LOC130062945	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2097428	NM_000156.6(GAMT):c.37G>T (p.Gly13Cys)	GAMT, LOC130062945 (G13C)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 2097117	NM_000156.6(GAMT):c.154G>T (p.Ala52Ser)	GAMT, LOC130062945 (A52S)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 2090514	NM_000156.6(GAMT):c.130C>G (p.Arg44Gly)	GAMT, LOC130062945 (R44G)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 2065546	NM_000156.6(GAMT):c.45C>T (p.Asn15=)	GAMT, LOC130062945	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2060742	NM_000156.6(GAMT):c.60G>A (p.Trp20Ter)	GAMT, LOC130062945 (W20*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2060345	NM_000156.6(GAMT):c.131G>A (p.Arg44His)	GAMT, LOC130062945 (R44H)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 2035678	NM_000156.6(GAMT):c.6C>T (p.Ser2=)	GAMT, LOC130062945	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2021971	NM_000156.6(GAMT):c.54C>G (p.Pro18=)	GAMT, LOC130062945	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 1998188	NM_000156.6(GAMT):c.65del (p.Ala22fs)	GAMT, LOC130062945 (A22fs)	Deletion (frameshift variant)	Cerebral creatine deficiency syndrome	GPathogenic
Select item 1989243	NM_000156.6(GAMT):c.166G>A (p.Ala56Thr)	GAMT, LOC130062945 (A56T)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 1982932	NM_000156.6(GAMT):c.128_135dup (p.Glu46fs)	GAMT, LOC130062945 (E46fs)	Duplication (frameshift variant)	Cerebral creatine deficiency syndrome	GPathogenic
Select item 1979065	NM_000156.6(GAMT):c.181+10G>A	GAMT, LOC130062945	Single nucleotide variant (intron variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 1944953	NM_000156.6(GAMT):c.89C>T (p.Ala30Val)	GAMT, LOC130062945 (A30V)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome	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 1678192	NM_000156.6(GAMT):c.23C>T (p.Pro8Leu)	GAMT, LOC130062945 (P8L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1671608	NM_000156.6(GAMT):c.90G>A (p.Ala30=)	GAMT, LOC130062945	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 1639683	NM_000156.6(GAMT):c.108C>T (p.Ile36=)	GAMT, LOC130062945	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 1631766	NM_000156.6(GAMT):c.181+7C>T	GAMT, LOC130062945	Single nucleotide variant (intron variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 1619434	NM_000156.6(GAMT):c.87A>T (p.Ala29=)	LOC130062945, GAMT	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 1603735	NM_000156.6(GAMT):c.171C>G (p.Ala57=)	GAMT, LOC130062945	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 1573701	NM_000156.6(GAMT):c.138G>A (p.Glu46=)	GAMT, LOC130062945	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 1546277	NM_000156.6(GAMT):c.24C>A (p.Pro8=)	GAMT, LOC130062945	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 1538513	NM_000156.6(GAMT):c.165C>T (p.Ala55=)	GAMT, LOC130062945	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 1524952	NM_000156.6(GAMT):c.152A>T (p.His51Leu)	GAMT, LOC130062945 (H51L)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 1508606	NM_000156.6(GAMT):c.181+2T>C	GAMT, LOC130062945	Single nucleotide variant (splice donor variant)	Cerebral creatine deficiency syndrome	GLikely pathogenic
Select item 1462940	NM_000156.6(GAMT):c.38G>C (p.Gly13Ala)	GAMT, LOC130062945 (G13A)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 1452750	NM_000156.6(GAMT):c.2T>C (p.Met1Thr)	GAMT, LOC130062945 (M1T)	Single nucleotide variant (missense variant +1 more)	Cerebral creatine deficiency syndrome	GPathogenic
Select item 1448647	NM_000156.6(GAMT):c.118C>T (p.Pro40Ser)	GAMT, LOC130062945 (P40S)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 1444160	NM_000156.6(GAMT):c.11C>G (p.Pro4Arg)	GAMT, LOC130062945 (P4R)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 1443570	NM_000156.6(GAMT):c.164_171del (p.Ala55fs)	GAMT, LOC130062945 (A55fs)	Deletion (frameshift variant)	Cerebral creatine deficiency syndrome	GPathogenic
Select item 1440929	NM_000156.6(GAMT):c.53C>T (p.Pro18Leu)	GAMT, LOC130062945 (P18L)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 1432920	NM_000156.6(GAMT):c.42G>C (p.Glu14Asp)	GAMT, LOC130062945 (E14D)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome +1 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 1415193	NM_000156.6(GAMT):c.179A>C (p.Lys60Thr)	GAMT, LOC130062945 (K60T)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 1415000	NM_000156.6(GAMT):c.26T>A (p.Ile9Asn)	GAMT, LOC130062945 (I9N)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 1403508	NM_000156.6(GAMT):c.127G>C (p.Glu43Gln)	GAMT, LOC130062945 (E43Q)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome	GUncertain significance
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 1368103	NM_000156.6(GAMT):c.30C>G (p.Phe10Leu)	GAMT, LOC130062945 (F10L)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 1361141	NM_000156.6(GAMT):c.181+16C>T	GAMT, LOC130062945	Single nucleotide variant (intron variant)	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 1305363	NM_000156.6(GAMT):c.114C>T (p.Gly38=)	GAMT, LOC130062945	Single nucleotide variant (synonymous variant)	Deficiency of guanidinoacetate methyltransferase	GLikely pathogenic FDA Recognized database
Select item 1304798	NM_000156.6(GAMT):c.142C>T (p.Pro48Ser)	GAMT, LOC130062945 (P48S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1184466	NM_000156.6(GAMT):c.313_314insTG (p.Arg105fs)	GAMT (R105fs)	Insertion (frameshift variant)	Deficiency of guanidinoacetate methyltransferase	GPathogenic
Select item 1147132	NM_000156.6(GAMT):c.96G>A (p.Thr32=)	GAMT, LOC130062945	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 1145657	NM_000156.6(GAMT):c.33G>T (p.Ala11=)	LOC130062945, GAMT	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 1134338	NM_000156.6(GAMT):c.33G>A (p.Ala11=)	GAMT, LOC130062945	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 1127759	NM_000156.6(GAMT):c.100C>T (p.Leu34=)	GAMT, LOC130062945	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 1119743	NM_000156.6(GAMT):c.156G>A (p.Ala52=)	GAMT, LOC130062945	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 1114653	NM_000156.6(GAMT):c.27C>T (p.Ile9=)	GAMT, LOC130062945	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 1108014	NM_000156.6(GAMT):c.141C>G (p.Thr47=)	GAMT, LOC130062945	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 1104743	NM_000156.6(GAMT):c.162C>T (p.Ala54=)	GAMT, LOC130062945	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 1100812	NM_000156.6(GAMT):c.102G>T (p.Leu34=)	GAMT, LOC130062945	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 1094588	NM_000156.6(GAMT):c.147T>C (p.Tyr49=)	GAMT, LOC130062945	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 1094585	NM_000156.6(GAMT):c.36C>T (p.Pro12=)	GAMT, LOC130062945	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 1089333	NM_000156.6(GAMT):c.51C>T (p.Ser17=)	GAMT, LOC130062945	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 1088989	NM_000156.6(GAMT):c.162C>G (p.Ala54=)	GAMT, LOC130062945	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 1087506	NM_000156.6(GAMT):c.120G>A (p.Pro40=)	GAMT, LOC130062945	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 1075552	NM_000156.6(GAMT):c.64del (p.Ala22fs)	GAMT, LOC130062945 (A22fs)	Deletion (frameshift variant)	Cerebral creatine deficiency syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1070219	NM_000156.6(GAMT):c.144dup (p.Tyr49fs)	GAMT, LOC130062945 (Y49fs)	Duplication (frameshift variant)	Cerebral creatine deficiency syndrome	GPathogenic
Select item 1069228	NM_000156.6(GAMT):c.59G>A (p.Trp20Ter)	GAMT, LOC130062945 (W20*)	Single nucleotide variant (nonsense)	Cerebral creatine deficiency syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1068105	NM_000156.6(GAMT):c.163_181+6del	GAMT, LOC130062945	Deletion (splice donor variant)	Cerebral creatine deficiency syndrome	GLikely pathogenic

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