ClinVar for Gene (Select 2593) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370611	NM_000156.6(GAMT):c.306G>C (p.Trp102Cys)	GAMT (W102C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367194	NM_000156.6(GAMT):c.373_376del (p.Pro125fs)	GAMT (P125fs)	Microsatellite (frameshift variant)	Deficiency of guanidinoacetate methyltransferase	GPathogenic
Select item 3364041	NM_000156.6(GAMT):c.182-14_182-13del	GAMT	Deletion (intron variant)	not provided	GUncertain significance
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 3256144	NM_000156.6(GAMT):c.391+5G>C	GAMT	Single nucleotide variant (intron variant)	Deficiency of guanidinoacetate methyltransferase	GUncertain significance FDA Recognized database
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 3098274	NM_000156.6(GAMT):c.553A>G (p.Ile185Val)	GAMT (I185V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3051148	NM_000156.6(GAMT):c.570+221G>A	GAMT (R264Q)	Single nucleotide variant (missense variant +1 more)	GAMT-related disorder	GLikely benign
Select item 3030602	NM_000156.6(GAMT):c.570+204C>T	GAMT	Single nucleotide variant (synonymous variant +1 more)	GAMT-related disorder	GLikely benign
Select item 3023502	NM_000156.6(GAMT):c.327+15G>C	GAMT	Single nucleotide variant (intron variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 3022922	NM_000156.6(GAMT):c.459+1G>A	GAMT	Single nucleotide variant (splice donor variant)	Cerebral creatine deficiency syndrome	GLikely pathogenic
Select item 3019782	NM_000156.6(GAMT):c.570+11C>G	GAMT (P194R)	Single nucleotide variant (missense variant +1 more)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 3008393	NM_000156.6(GAMT):c.552C>T (p.Asp184=)	GAMT	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
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 2992924	NM_000156.6(GAMT):c.327+11G>A	GAMT	Single nucleotide variant (intron variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2986315	NM_000156.6(GAMT):c.392-10C>T	GAMT	Single nucleotide variant (intron variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2976241	NM_000156.6(GAMT):c.391+18G>C	GAMT	Single nucleotide variant (intron variant)	Cerebral creatine deficiency syndrome	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 2919353	NM_000156.6(GAMT):c.392-11T>C	GAMT	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 2917476	NM_000156.6(GAMT):c.369C>T (p.Thr123=)	GAMT	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2913445	NM_000156.6(GAMT):c.570+17T>C	GAMT (V196A)	Single nucleotide variant (missense variant +1 more)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2908563	NM_000156.6(GAMT):c.459+11C>T	GAMT	Single nucleotide variant (intron variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2906863	NM_000156.6(GAMT):c.460-12C>G	GAMT	Single nucleotide variant (intron variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2903844	NM_000156.6(GAMT):c.328-23_328-20del	GAMT	Deletion (intron variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2897074	NM_000156.6(GAMT):c.328-5G>C	GAMT	Single nucleotide variant (intron variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2895801	NM_000156.6(GAMT):c.327+14C>T	GAMT	Single nucleotide variant (intron variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2888662	NM_000156.6(GAMT):c.327+7C>T	GAMT	Single nucleotide variant (intron variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2885680	NM_000156.6(GAMT):c.328-15T>C	GAMT	Single nucleotide variant (intron variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2883840	NM_000156.6(GAMT):c.328-15T>G	GAMT	Single nucleotide variant (intron 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 2872765	NM_000156.6(GAMT):c.328-7C>G	GAMT	Single nucleotide variant (intron variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2870252	NM_000156.6(GAMT):c.328-7C>T	GAMT	Single nucleotide variant (intron variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2865021	NM_000156.6(GAMT):c.513C>A (p.Leu171=)	GAMT	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2862768	NM_000156.6(GAMT):c.460-15A>G	GAMT	Single nucleotide variant (intron variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2862087	NM_000156.6(GAMT):c.264C>A (p.Ile88=)	GAMT	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2859213	NM_000156.6(GAMT):c.327+19G>T	GAMT	Single nucleotide variant (intron variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2854022	NM_000156.6(GAMT):c.571-5A>G	GAMT	Single nucleotide variant (intron variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2850614	NM_000156.6(GAMT):c.327+18G>A	GAMT	Single nucleotide variant (intron variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2844902	NM_000156.6(GAMT):c.571-12A>G	GAMT	Single nucleotide variant (intron 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 2843680	NM_000156.6(GAMT):c.306G>A (p.Trp102Ter)	GAMT (W102*)	Single nucleotide variant (nonsense)	Cerebral creatine deficiency syndrome	GPathogenic
Select item 2831012	NM_000156.6(GAMT):c.444_448del (p.Phe149fs)	GAMT (F149fs)	Deletion (frameshift variant)	Cerebral creatine deficiency syndrome	GPathogenic
Select item 2829281	NM_000156.6(GAMT):c.392-17T>G	GAMT	Single nucleotide variant (intron variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2825539	NM_000156.6(GAMT):c.393G>T (p.Gly131=)	GAMT	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
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 2811113	NM_000156.6(GAMT):c.392-9T>C	GAMT	Single nucleotide variant (intron 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 2789378	NM_000156.6(GAMT):c.392-14T>C	GAMT	Single nucleotide variant (intron variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2788833	NM_000156.6(GAMT):c.222A>G (p.Ala74=)	GAMT	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2772622	NM_000156.6(GAMT):c.392-13G>A	GAMT	Single nucleotide variant (intron 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 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 2758251	NM_000156.6(GAMT):c.292C>A (p.Arg98=)	GAMT	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
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 2748670	NM_000156.6(GAMT):c.182-4C>T	GAMT	Single nucleotide variant (intron variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2746625	NM_000156.6(GAMT):c.392-15_392-14del	GAMT	Deletion (intron variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2743645	NM_000156.6(GAMT):c.503_517del (p.Tyr168_Thr172del)	GAMT	Deletion (inframe_deletion)	Cerebral creatine deficiency syndrome	GPathogenic
Select item 2740887	NM_000156.6(GAMT):c.459+19C>T	GAMT	Single nucleotide variant (intron variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2740427	NM_000156.6(GAMT):c.327+19G>A	GAMT	Single nucleotide variant (intron variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2740326	NM_000156.6(GAMT):c.570+11C>T	GAMT (P194L)	Single nucleotide variant (missense variant +1 more)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2729949	NM_000156.6(GAMT):c.327+15G>T	GAMT	Single nucleotide variant (intron variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2727126	NM_000156.6(GAMT):c.429C>T (p.Thr143=)	GAMT	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2723860	NM_000156.6(GAMT):c.369C>G (p.Thr123=)	GAMT	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2720231	NM_000156.6(GAMT):c.391+20A>G	GAMT	Single nucleotide variant (intron variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2719634	NM_000156.6(GAMT):c.327+17A>G	GAMT	Single nucleotide variant (intron variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2717440	NM_000156.6(GAMT):c.328-13del	GAMT	Deletion (intron variant)	Cerebral creatine deficiency syndrome	GBenign
Select item 2715989	NM_000156.6(GAMT):c.327+2T>G	GAMT	Single nucleotide variant (splice donor variant)	Cerebral creatine deficiency syndrome	GLikely pathogenic
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 2713276	NM_000156.6(GAMT):c.264C>T (p.Ile88=)	GAMT	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2712458	NM_000156.6(GAMT):c.182-12G>A	GAMT	Single nucleotide variant (intron variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2708526	NM_000156.6(GAMT):c.237G>A (p.Gln79=)	GAMT	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2704489	NM_000156.6(GAMT):c.519C>T (p.Ser173=)	GAMT	Single nucleotide variant (synonymous variant)	Cerebral creatine deficiency syndrome	GLikely benign
Select item 2696813	NM_000156.6(GAMT):c.392-13G>T	GAMT	Single nucleotide variant (intron 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 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	MBD3L3, MBD3L4 +202 more	Copy number gain	not provided	GPathogenic
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 2648920	NM_000156.6(GAMT):c.609G>A (p.Arg203=)	GAMT	Single nucleotide variant (synonymous variant)	not provided	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 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 2557112	NM_000156.6(GAMT):c.427A>T (p.Thr143Ser)	GAMT (T143S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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

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