GAMT[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	LOC116276498, LOC121627842 +687 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	ABCA7, ABHD17A +903 more	Copy number gain	See cases	GPathogenic
Select item 146110	GRCh38/hg38 19p13.3(chr19:259395-2068507)x3	LOC130062818, LOC130062819 +332 more	Copy number gain	See cases	GPathogenic
Select item 59078	GRCh38/hg38 19p13.3(chr19:259395-1952650)x3	ABCA7, ABHD17A +321 more	Copy number gain	See cases	GPathogenic
Select item 57357	GRCh38/hg38 19p13.3(chr19:259395-2555149)x3	ABCA7, ABHD17A +429 more	Copy number gain	See cases	GPathogenic
Select item 152851	GRCh38/hg38 19p13.3(chr19:275925-1892276)x3	ABCA7, ABHD17A +301 more	Copy number gain	See cases	GPathogenic
Select item 145542	GRCh38/hg38 19p13.3(chr19:421537-2897921)x3	ABCA7, ABHD17A +453 more	Copy number gain	See cases	GLikely pathogenic
Select item 60066	GRCh38/hg38 19p13.3(chr19:945098-1972299)x1	LOC130062906, LOC130062907 +222 more	Copy number loss	See cases	GPathogenic
Select item 147726	GRCh38/hg38 19p13.3(chr19:1351163-2555149)x3	ABHD17A, ADAMTSL5 +219 more	Copy number gain	See cases	GUncertain significance
Select item 138494	NM_024407.5(NDUFS7):c.*13C>A	GAMT, NDUFS7	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex I deficiency +4 more	GBenign/Likely benign
Select item 328343	NM_000156.6(GAMT):c.*311C>G	GAMT, NDUFS7	Single nucleotide variant (3 prime UTR variant)	Leigh syndrome +3 more	GBenign/Likely benign
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 328344	NM_000156.6(GAMT):c.*276C>T	NDUFS7, GAMT	Single nucleotide variant (3 prime UTR variant)	Leigh syndrome +3 more	GBenign/Likely benign
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 328345	NM_000156.6(GAMT):c.*151T>C	GAMT, NDUFS7	Single nucleotide variant (3 prime UTR variant)	Leigh syndrome +3 more	GBenign/Likely benign
Select item 328346	NM_000156.6(GAMT):c.*146A>C	GAMT, NDUFS7	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign/Likely benign
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 889368	NM_000156.6(GAMT):c.*116C>T	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 889370	NM_000156.6(GAMT):c.*69G>A	GAMT	Single nucleotide variant (3 prime UTR variant)	Deficiency of guanidinoacetate methyltransferase	GUncertain significance
Select item 380976	NM_000156.6(GAMT):c.*17G>A	GAMT	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 204598	NM_000156.6(GAMT):c.*11C>T	GAMT	Single nucleotide variant (3 prime UTR variant)	Deficiency of guanidinoacetate methyltransferase	GBenign FDA Recognized database
Select item 377910	NM_000156.6(GAMT):c.*2C>G	GAMT	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
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)	Cerebral creatine deficiency syndrome +1 more	GConflicting classifications of pathogenicity
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 544252	NM_000156.6(GAMT):c.701C>T (p.Thr234Ile)	GAMT (T234I)	Single nucleotide variant (missense variant)	Deficiency of guanidinoacetate methyltransferase	GUncertain significance FDA Recognized database
Select item 1389310	NM_000156.6(GAMT):c.697G>A (p.Val233Met)	GAMT (V233M)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 1952122	NM_000156.6(GAMT):c.693C>T (p.Pro231=)	GAMT	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2071598	NM_000156.6(GAMT):c.692C>T (p.Pro231Leu)	GAMT (P231L)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 2074520	NM_000156.6(GAMT):c.690G>T (p.Thr230=)	GAMT	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 1098220	NM_000156.6(GAMT):c.690G>A (p.Thr230=)	GAMT	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 205595	NM_000156.6(GAMT):c.689C>T (p.Thr230Met)	GAMT (T230M)	Single nucleotide variant (missense variant)	Deficiency of guanidinoacetate methyltransferase	GUncertain significance FDA Recognized database
Select item 2714266	NM_000156.6(GAMT):c.678A>G (p.Pro226=)	GAMT	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 205594	NM_000156.6(GAMT):c.677C>T (p.Pro226Leu)	GAMT (P226L)	Single nucleotide variant (missense variant)	Deficiency of guanidinoacetate methyltransferase	GUncertain significance FDA Recognized database
Select item 749602	NM_000156.6(GAMT):c.675C>T (p.Phe225=)	GAMT	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 1644588	NM_000156.6(GAMT):c.672C>T (p.Ala224=)	GAMT	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
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 1394775	NM_000156.6(GAMT):c.669C>G (p.Tyr223Ter)	GAMT (Y223*)	Single nucleotide variant (nonsense)	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 445930	NM_000156.6(GAMT):c.668dup (p.Tyr223Ter)	GAMT (Y223*)	Duplication (nonsense)	Deficiency of guanidinoacetate methyltransferase	GUncertain significance FDA Recognized database
Select item 416826	NM_000156.6(GAMT):c.669C>T (p.Tyr223=)	GAMT	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2768163	NM_000156.6(GAMT):c.666C>T (p.Tyr222=)	GAMT	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 544254	NM_000156.6(GAMT):c.662G>A (p.Arg221His)	GAMT (R221H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1412892	NM_000156.6(GAMT):c.661C>T (p.Arg221Cys)	GAMT (R221C)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 1754277	NM_000156.6(GAMT):c.657C>A (p.Asp219Glu)	GAMT (D219E)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome +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 1120848	NM_000156.6(GAMT):c.654C>G (p.Ala218=)	GAMT	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 1112447	NM_000156.6(GAMT):c.654C>T (p.Ala218=)	GAMT	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2965280	NM_000156.6(GAMT):c.651G>T (p.Pro217=)	GAMT	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 1052866	NM_000156.6(GAMT):c.651G>A (p.Pro217=)	GAMT	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome +1 more	GLikely benign
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 205592	NM_000156.6(GAMT):c.650C>T (p.Pro217Leu)	GAMT (P217L)	Single nucleotide variant (missense variant)	Deficiency of guanidinoacetate methyltransferase	GUncertain significance FDA Recognized database
Select item 1163721	NM_000156.6(GAMT):c.649C>T (p.Pro217Ser)	GAMT (P217S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1001465	NM_000156.6(GAMT):c.649C>G (p.Pro217Ala)	GAMT (P217A)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 2753079	NM_000156.6(GAMT):c.648A>G (p.Pro216=)	GAMT	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 516284	NM_000156.6(GAMT):c.642G>A (p.Leu214=)	GAMT	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 478018	NM_000156.6(GAMT):c.639G>A (p.Ala213=)	GAMT	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome +1 more	GLikely benign
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 1433821	NM_000156.6(GAMT):c.636G>A (p.Met212Ile)	GAMT (M212I)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome	GUncertain significance
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 1466081	NM_000156.6(GAMT):c.631G>C (p.Val211Leu)	GAMT (V211L)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 1951696	NM_000156.6(GAMT):c.630G>A (p.Glu210=)	GAMT	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
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 700211	NM_000156.6(GAMT):c.627G>A (p.Thr209=)	GAMT	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
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 1156901	NM_000156.6(GAMT):c.624T>C (p.Arg208=)	GAMT	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2145165	NM_000156.6(GAMT):c.623G>T (p.Arg208Leu)	GAMT (R208L)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome	GUncertain significance
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 1496791	NM_000156.6(GAMT):c.622C>A (p.Arg208Ser)	GAMT (R208S)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 544261	NM_000156.6(GAMT):c.622C>T (p.Arg208Cys)	GAMT (R208C)	Single nucleotide variant (missense variant)	Deficiency of guanidinoacetate methyltransferase	GUncertain significance FDA Recognized database
Select item 2089258	NM_000156.6(GAMT):c.608_621del (p.Arg203fs)	GAMT (R203fs)	Deletion (frameshift variant)	Cerebral creatine deficiency syndrome	GPathogenic
Select item 2092122	NM_000156.6(GAMT):c.617A>G (p.Asn206Ser)	GAMT (N206S)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 1138459	NM_000156.6(GAMT):c.615G>A (p.Glu205=)	GAMT	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
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 2139494	NM_000156.6(GAMT):c.610A>G (p.Arg204Gly)	GAMT (R204G)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 1312504	NM_000156.6(GAMT):c.609dup (p.Arg204fs)	GAMT (R204fs)	Duplication (frameshift variant)	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 2648920	NM_000156.6(GAMT):c.609G>A (p.Arg203=)	GAMT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 205590	NM_000156.6(GAMT):c.608G>A (p.Arg203Gln)	GAMT (R203Q)	Single nucleotide variant (missense variant)	Deficiency of guanidinoacetate methyltransferase	GUncertain significance FDA Recognized database
Select item 449622	NM_000156.6(GAMT):c.607C>T (p.Arg203Trp)	GAMT (R203W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2120778	NM_000156.6(GAMT):c.606C>T (p.Phe202=)	GAMT	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 1377502	NM_000156.6(GAMT):c.602G>A (p.Gly201Asp)	GAMT (G201D)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 205589	NM_000156.6(GAMT):c.601G>A (p.Gly201Ser)	GAMT (G201S)	Single nucleotide variant (missense variant)	Deficiency of guanidinoacetate methyltransferase +2 more	GUncertain significance
Select item 205568	NM_000156.6(GAMT):c.600C>T (p.Ala200=)	GAMT	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
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 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 2107090	NM_000156.6(GAMT):c.595G>A (p.Glu199Lys)	GAMT (E199K)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 571372	NM_000156.6(GAMT):c.594G>A (p.Leu198=)	GAMT	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	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 1462024	NM_000156.6(GAMT):c.593T>C (p.Leu198Pro)	GAMT (L198P)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 1127147	NM_000156.6(GAMT):c.591G>A (p.Leu197=)	GAMT	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
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 1129063	NM_000156.6(GAMT):c.588G>T (p.Ala196=)	GAMT	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 1083764	NM_000156.6(GAMT):c.588G>A (p.Ala196=)	GAMT	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 205588	NM_000156.6(GAMT):c.587C>T (p.Ala196Val)	GAMT (A196V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
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 386261	NM_000156.6(GAMT):c.585C>T (p.Pro195=)	GAMT	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 1517105	NM_000156.6(GAMT):c.584C>T (p.Pro195Leu)	GAMT (P195L)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 656846	NM_000156.6(GAMT):c.583C>G (p.Pro195Ala)	GAMT (P195A)	Single nucleotide variant (missense variant)	Cerebral creatine deficiency syndrome	GUncertain significance
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

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