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654 records found for search term Gamt
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
8560427CV23340single nucleotide variantGAMT, IVS2DS, G-A, -1Deficiency of guanidinoacetate methyltransferase [RCV000008799]pathogenicHumanname
12838514CV377525single nucleotide variantNM_000156.6(GAMT):c.*2C>Gnot provided [RCV001718830]likely benign1913973571397357Humanname
13536643CV506809single nucleotide variantNM_000156.6(GAMT):c.-8C>Gnot specified [RCV000609293]likely benign1914014841401484Humanname
10056682CV200993single nucleotide variantNM_000156.6(GAMT):c.*11C>TDeficiency of guanidinoacetate methyltransferase [RCV000356370]|not provided [RCV004703450]|not specified [RCV000125196]benign|likely benign1913973481397348Human1name , alternate_id
10397550CV203560single nucleotide variantNM_000156.6(GAMT):c.-23C>Tnot specified [RCV000187556]likely benign1914014991401499Humanname
10397549CV203561single nucleotide variantNM_000156.6(GAMT):c.-27A>Cnot specified [RCV000187555]benign|likely benign1914015031401503Humanname
10396025CV203562single nucleotide variantNM_000156.6(GAMT):c.-31A>Gnot specified [RCV000187554]benign1914015071401507Humanname
10396024CV203563single nucleotide variantNM_000156.6(GAMT):c.-44C>Tnot specified [RCV000187553]likely benign1914015201401520Humanname
11664837CV342883single nucleotide variantNM_000156.6(GAMT):c.-78C>TDeficiency of guanidinoacetate methyltransferase [RCV000392623]uncertain significance1914015541401554Human1name , alternate_id
12834080CV376350single nucleotide variantNM_000156.6(GAMT):c.*17G>Anot specified [RCV000419734]likely benign1913973421397342Humanname
13539038CV506579single nucleotide variantNM_000156.6(GAMT):c.-44C>Anot specified [RCV000612718]likely benign1914015201401520Humanname
28897555CV880009single nucleotide variantNM_000156.6(GAMT):c.*89C>ADeficiency of guanidinoacetate methyltransferase [RCV001123242]|not provided [RCV001585992]likely benign1913972701397270Human1name , alternate_id
28897557CV880010single nucleotide variantNM_000156.6(GAMT):c.*69G>ADeficiency of guanidinoacetate methyltransferase [RCV001123243]|not provided [RCV004694767]uncertain significance1913972901397290Human1name , alternate_id
28897821CV880012single nucleotide variantNM_000156.6(GAMT):c.-79G>ADeficiency of guanidinoacetate methyltransferase [RCV001123347]uncertain significance1914015551401555Human1name , alternate_id
11666387CV342879single nucleotide variantNM_000156.6(GAMT):c.*276C>TDeficiency of guanidinoacetate methyltransferase [RCV000369560]|Leigh syndrome [RCV000397956]|Mitochondrial complex I deficiency [RCV000340079]|not provided [RCV001709600]benign|likely benign1913970831397083Human3name , alternate_id
11665615CV349425single nucleotide variantNM_000156.6(GAMT):c.*311C>GDeficiency of guanidinoacetate methyltransferase [RCV000314996]|Leigh syndrome [RCV000282642]|Mitochondrial complex I deficiency [RCV000374817]|not provided [RCV001653594]benign|likely benign1913970481397048Human3name , alternate_id
11665953CV349427single nucleotide variantNM_000156.6(GAMT):c.*151T>CDeficiency of guanidinoacetate methyltransferase [RCV000390864]|Leigh syndrome [RCV000343350]|Mitochondrial complex I deficiency [RCV000304781]|not provided [RCV001672552]benign|likely benign1913972081397208Human3name , alternate_id
11665999CV349428single nucleotide variantNM_000156.6(GAMT):c.*146A>CDeficiency of guanidinoacetate methyltransferase [RCV000310942]|Leigh syndrome [RCV000399238]|Mitochondrial complex I deficiency [RCV000308431]|not provided [RCV001594960]benign|likely benign1913972131397213Human3name , alternate_id
28906981CV880005single nucleotide variantNM_000156.6(GAMT):c.*292C>TDeficiency of guanidinoacetate methyltransferase [RCV001127324]uncertain significance1913970671397067Human1name , alternate_id
28906983CV880006single nucleotide variantNM_000156.6(GAMT):c.*239C>TDeficiency of guanidinoacetate methyltransferase [RCV001127325]uncertain significance1913971201397120Human1name , alternate_id
28897549CV880007single nucleotide variantNM_000156.6(GAMT):c.*136C>ADeficiency of guanidinoacetate methyltransferase [RCV001123240]likely benign1913972231397223Human1name , alternate_id
28897553CV880008single nucleotide variantNM_000156.6(GAMT):c.*116C>TDeficiency of guanidinoacetate methyltransferase [RCV001123241]uncertain significance1913972431397243Human1name , alternate_id
127247363CV1056545single nucleotide variantNM_000156.6(GAMT):c.327+1G>TCerebral creatine deficiency syndrome [RCV001377759]|Deficiency of guanidinoacetate methyltransferase [RCV003469631]likely pathogenic1913997921399792Human2name , alternate_id
127246557CV1084486single nucleotide variantNM_000156.6(GAMT):c.571-6G>CCerebral creatine deficiency syndrome [RCV001416761]likely benign1913975051397505Human1name
127249177CV1084487single nucleotide variantNM_000156.6(GAMT):c.571-8C>TCerebral creatine deficiency syndrome [RCV001399548]likely benign1913975071397507Human1name
127292905CV1127653single nucleotide variantNM_000156.6(GAMT):c.392-6G>CCerebral creatine deficiency syndrome [RCV001476436]likely benign1913992011399201Human1name
127326811CV1148583single nucleotide variantNM_000156.6(GAMT):c.391+8G>CCerebral creatine deficiency syndrome [RCV001506411]likely benign1913995161399516Human1name
150535087CV1293577single nucleotide variantNM_000156.6(GAMT):c.391+5G>Anot provided [RCV001757854]uncertain significance1913995191399519Humanname
8659630CV134576single nucleotide variantNM_000156.6(GAMT):c.571-6G>ACerebral creatine deficiency syndrome [RCV001521976]|Deficiency of guanidinoacetate methyltransferase [RCV000261636]|Leigh syndrome [RCV000276453]|Mitochondrial complex I deficiency [RCV000368554]|not provided [RCV000676878]|not specified [RCV000117116]benign|likely benign|conflicting interpretations of pathogenicity1913975051397505Human4name , alternate_id
151769737CV1409764single nucleotide variantNM_000156.6(GAMT):c.570+1G>ACerebral creatine deficiency syndrome [RCV001896215]|Deficiency of guanidinoacetate methyltransferase [RCV002508327]likely pathogenic|uncertain significance|not provided1913989151398915Human2name , alternate_id
8691179CV141139single nucleotide variantNM_000156.6(GAMT):c.392-7C>TCerebral creatine deficiency syndrome [RCV000655376]|Deficiency of guanidinoacetate methyltransferase [RCV000322929]|not provided [RCV003415932]|not specified [RCV000125192]benign|likely benign|uncertain significance1913992021399202Human2name , alternate_id
151724093CV1439817single nucleotide variantNM_000156.6(GAMT):c.181+2T>CCerebral creatine deficiency syndrome [RCV002040462]likely pathogenic1914012941401294Human1name
151779258CV1473719single nucleotide variantNM_000156.6(GAMT):c.459+3G>TCerebral creatine deficiency syndrome [RCV001864814]uncertain significance1913991251399125Human1name
151833370CV1493109single nucleotide variantNM_000156.6(GAMT):c.327+4C>TCerebral creatine deficiency syndrome [RCV001935279]uncertain significance1913997891399789Human1name
152084658CV1554932single nucleotide variantNM_000156.6(GAMT):c.459+8T>CCerebral creatine deficiency syndrome [RCV002211879]likely benign1913991201399120Human1name
152060382CV1559188single nucleotide variantNM_000156.6(GAMT):c.328-5G>ACerebral creatine deficiency syndrome [RCV002167929]likely benign1913995921399592Human1name
152149335CV1593202single nucleotide variantNM_000156.6(GAMT):c.460-6C>TCerebral creatine deficiency syndrome [RCV002101982]likely benign1913990321399032Human1name
152096968CV1597568single nucleotide variantNM_000156.6(GAMT):c.181+7C>TCerebral creatine deficiency syndrome [RCV002114821]likely benign1914012891401289Human1name
152100686CV1606756single nucleotide variantNM_000156.6(GAMT):c.460-9C>GCerebral creatine deficiency syndrome [RCV002195507]likely benign1913990351399035Human1name
152061416CV1611089single nucleotide variantNM_000156.6(GAMT):c.570+9A>CCerebral creatine deficiency syndrome [RCV002146820]likely benign1913989071398907Human1name
152145075CV1616436single nucleotide variantNM_000156.6(GAMT):c.328-9C>TCerebral creatine deficiency syndrome [RCV002120904]likely benign1913995961399596Human1name
156313307CV1913780single nucleotide variantNM_000156.6(GAMT):c.460-3C>TCerebral creatine deficiency syndrome [RCV002599786]uncertain significance1913990291399029Human1name
156034130CV2047446single nucleotide variantNM_000156.6(GAMT):c.460-5C>TCerebral creatine deficiency syndrome [RCV002781233]likely benign1913990311399031Human1name
156187068CV2086591single nucleotide variantNM_000156.6(GAMT):c.327+9C>TCerebral creatine deficiency syndrome [RCV002852016]likely benign1913997841399784Human1name
156260799CV2113710single nucleotide variantNM_000156.6(GAMT):c.571-3C>ACerebral creatine deficiency syndrome [RCV002933873]uncertain significance1913975021397502Human1name
156317601CV2137825single nucleotide variantNM_000156.6(GAMT):c.570+6C>TCerebral creatine deficiency syndrome [RCV002962995]uncertain significance1913989101398910Human1name
156141884CV2167775single nucleotide variantNM_000156.6(GAMT):c.392-5T>GCerebral creatine deficiency syndrome [RCV003022550]likely benign1913992001399200Human1name
405164844CV2869227single nucleotide variantNM_000156.6(GAMT):c.327+2T>GCerebral creatine deficiency syndrome [RCV003586928]likely pathogenic1913997911399791Human1name
405171674CV2915030single nucleotide variantNM_000156.6(GAMT):c.182-4C>TCerebral creatine deficiency syndrome [RCV003587659]likely benign1913999421399942Human1name
405248914CV2955014single nucleotide variantNM_000156.6(GAMT):c.181+8C>TCerebral creatine deficiency syndrome [RCV003746845]likely benign1914012881401288Human1name
405249090CV2975626single nucleotide variantNM_000156.6(GAMT):c.392-9T>CCerebral creatine deficiency syndrome [RCV003746985]likely benign1913992041399204Human1name
405246640CV3010388single nucleotide variantNM_000156.6(GAMT):c.571-5A>GCerebral creatine deficiency syndrome [RCV003746062]likely benign1913975041397504Human1name
405247379CV3021261single nucleotide variantNM_000156.6(GAMT):c.328-7C>TCerebral creatine deficiency syndrome [RCV003746267]likely benign1913995941399594Human1name
405247232CV3037844single nucleotide variantNM_000156.6(GAMT):c.328-7C>GCerebral creatine deficiency syndrome [RCV003746278]likely benign1913995941399594Human1name
405247589CV3047520single nucleotide variantNM_000156.6(GAMT):c.327+7C>TCerebral creatine deficiency syndrome [RCV003746429]likely benign1913997861399786Human1name
405250259CV3060002single nucleotide variantNM_000156.6(GAMT):c.328-5G>CCerebral creatine deficiency syndrome [RCV003747450]likely benign1913995921399592Human1name
404995777CV3172826single nucleotide variantNM_000156.6(GAMT):c.459+1G>ACerebral creatine deficiency syndrome [RCV003882108]likely pathogenic1913991271399127Human1name
407453473CV3414907single nucleotide variantNM_000156.6(GAMT):c.391+5G>CDeficiency of guanidinoacetate methyltransferase [RCV004597242]uncertain significance1913995191399519Human1name , alternate_id
12842328CV377534single nucleotide variantNM_000156.6(GAMT):c.460-9C>TCerebral creatine deficiency syndrome [RCV003114547]|not specified [RCV000434203]likely benign1913990351399035Human1name
13498241CV469478single nucleotide variantNM_000156.6(GAMT):c.571-7C>TCerebral creatine deficiency syndrome [RCV001407769]|not provided [RCV000527947]likely benign1913975061397506Human1name
13529542CV507218single nucleotide variantNM_000156.6(GAMT):c.571-9C>TCerebral creatine deficiency syndrome [RCV002065415]|not specified [RCV000605778]likely benign1913975081397508Human1name
13535149CV507236single nucleotide variantNM_000156.6(GAMT):c.181+9C>GCerebral creatine deficiency syndrome [RCV001451621]|not specified [RCV000602138]likely benign1914012871401287Human1name
13816917CV572273single nucleotide variantNM_000156.6(GAMT):c.570+4C>TCerebral creatine deficiency syndrome [RCV000706678]|Deficiency of guanidinoacetate methyltransferase [RCV001272269]|Inborn genetic diseases [RCV002343573]|not provided [RCV001613434]benign|likely benign|uncertain significance1913989121398912Human3name , alternate_id
14704523CV653016single nucleotide variantNM_000156.6(GAMT):c.391+3G>ACerebral creatine deficiency syndrome [RCV000797694]uncertain significance1913995211399521Human1name
14712862CV653019single nucleotide variantNM_000156.6(GAMT):c.391+1G>CCerebral creatine deficiency syndrome [RCV000822144]|Deficiency of guanidinoacetate methyltransferase [RCV002305546]likely pathogenic1913995231399523Human2name , alternate_id
14703480CV653491single nucleotide variantNM_000156.6(GAMT):c.570+5G>ACerebral creatine deficiency syndrome [RCV000794003]|Deficiency of guanidinoacetate methyltransferase [RCV001830699]|GAMT-related disorder [RCV003918271]|Inborn genetic diseases [RCV002343655]|not provided [RCV001585712]uncertain significance1913989111398911Human3name , trait , alternate_id
14712453CV653605single nucleotide variantNM_000156.6(GAMT):c.460-7T>GCerebral creatine deficiency syndrome [RCV000820798]|Deficiency of guanidinoacetate methyltransferase [RCV001272271]likely benign|uncertain significance1913990331399033Human2name , alternate_id
15143581CV776561single nucleotide variantNM_000156.6(GAMT):c.392-6G>ACerebral creatine deficiency syndrome [RCV000944268]|GAMT-related disorder [RCV003925848]likely benign1913992011399201Human2name , trait , alternate_id
21070252CV789798single nucleotide variantNM_000156.6(GAMT):c.392-1G>ACerebral creatine deficiency syndrome [RCV003746569]|not provided [RCV000986199]pathogenic|likely pathogenic1913991961399196Human1name
26886198CV851799single nucleotide variantNM_000156.6(GAMT):c.570+5G>TCerebral creatine deficiency syndrome [RCV001065911]|Deficiency of guanidinoacetate methyltransferase [RCV001275201]uncertain significance1913989111398911Human2name , alternate_id
26919533CV852854single nucleotide variantNM_000156.6(GAMT):c.328-2A>GCerebral creatine deficiency syndrome [RCV001059066]|Deficiency of guanidinoacetate methyltransferase [RCV003482159]pathogenic|likely pathogenic1913995891399589Human2name , alternate_id
26915808CV852856single nucleotide variantNM_000156.6(GAMT):c.182-2A>GCerebral creatine deficiency syndrome [RCV001055959]|Deficiency of guanidinoacetate methyltransferase [RCV003467780]pathogenic|likely pathogenic1913999401399940Human2name , alternate_id
26884857CV852964single nucleotide variantNM_000156.6(GAMT):c.392-9T>GCerebral creatine deficiency syndrome [RCV001065097]|Deficiency of guanidinoacetate methyltransferase [RCV001833633]likely benign|uncertain significance1913992041399204Human2name , alternate_id
26895606CV852965single nucleotide variantNM_000156.6(GAMT):c.328-1G>ACerebral creatine deficiency syndrome [RCV001047942]|Deficiency of guanidinoacetate methyltransferase [RCV001832448]likely pathogenic|conflicting interpretations of pathogenicity1913995881399588Human2name , alternate_id
38485691CV940473single nucleotide variantNM_000156.6(GAMT):c.571-3C>GCerebral creatine deficiency syndrome [RCV001208584]|Deficiency of guanidinoacetate methyltransferase [RCV005029760]likely pathogenic|uncertain significance1913975021397502Human2name , alternate_id
38483256CV960286single nucleotide variantNM_000156.6(GAMT):c.327+5C>TCerebral creatine deficiency syndrome [RCV001235847]|Deficiency of guanidinoacetate methyltransferase [RCV001834049]|not specified [RCV005236710]uncertain significance1913997881399788Human2name , alternate_id
38596594CV964060single nucleotide variantNM_000156.6(GAMT):c.392-2A>GCerebral creatine deficiency syndrome [RCV001879840]|Deficiency of guanidinoacetate methyltransferase [RCV002222687]|Intellectual disability [RCV001251993]likely pathogenic|likely benign1913991971399197Human4name , alternate_id
127258859CV1106244single nucleotide variantNM_000156.6(GAMT):c.182-10G>TCerebral creatine deficiency syndrome [RCV001438247]likely benign1913999481399948Human1name
150338737CV1174502single nucleotide variantNM_000156.6(GAMT):c.391+47A>GDeficiency of guanidinoacetate methyltransferase [RCV001542969]|not provided [RCV001647383]benign1913994771399477Human1name , alternate_id
150422622CV1181722single nucleotide variantNM_000156.6(GAMT):c.182-39G>Anot provided [RCV001552890]likely benign1913999771399977Humanname
150471390CV1270066single nucleotide variantNM_000156.6(GAMT):c.327+69T>Gnot provided [RCV001695354]benign1913997241399724Humanname
151878643CV1383513single nucleotide variantNM_000156.6(GAMT):c.181+16C>TCerebral creatine deficiency syndrome [RCV001907381]likely benign|uncertain significance1914012801401280Human1name
8691175CV141135single nucleotide variantNM_000156.6(GAMT):c.182-18C>TCerebral creatine deficiency syndrome [RCV002055552]|not specified [RCV000125188]benign1913999561399956Human1name
152094726CV1520949single nucleotide variantNM_000156.6(GAMT):c.391+17C>TCerebral creatine deficiency syndrome [RCV002078182]likely benign1913995071399507Human1name
152122638CV1555046single nucleotide variantNM_000156.6(GAMT):c.392-19G>ACerebral creatine deficiency syndrome [RCV002198265]likely benign1913992141399214Human1name
152117367CV1566578single nucleotide variantNM_000156.6(GAMT):c.181+18T>GCerebral creatine deficiency syndrome [RCV002153823]likely benign1914012781401278Human1name
152057031CV1588387single nucleotide variantNM_000156.6(GAMT):c.392-19G>TCerebral creatine deficiency syndrome [RCV002190090]likely benign1913992141399214Human1name
152164843CV1588758single nucleotide variantNM_000156.6(GAMT):c.181+20C>GCerebral creatine deficiency syndrome [RCV002181615]likely benign1914012761401276Human1name
152119095CV1600836single nucleotide variantNM_000156.6(GAMT):c.328-19T>CCerebral creatine deficiency syndrome [RCV002154025]likely benign1913996061399606Human1name
152157782CV1629953single nucleotide variantNM_000156.6(GAMT):c.391+18G>ACerebral creatine deficiency syndrome [RCV002202896]likely benign1913995061399506Human1name
155945468CV1875412duplicationNM_000156.6(GAMT):c.459+12dupCerebral creatine deficiency syndrome [RCV003073818]likely benign1913991151399116Human1name
156410551CV1932420single nucleotide variantNM_000156.6(GAMT):c.328-17C>ACerebral creatine deficiency syndrome [RCV002607902]likely benign1913996041399604Human1name
156411924CV1973835single nucleotide variantNM_000156.6(GAMT):c.571-10C>TCerebral creatine deficiency syndrome [RCV002608389]likely benign1913975091397509Human1name
156195778CV2038242single nucleotide variantNM_000156.6(GAMT):c.181+10G>ACerebral creatine deficiency syndrome [RCV002766061]likely benign1914012861401286Human1name
156153247CV2098573single nucleotide variantNM_000156.6(GAMT):c.327+15G>ACerebral creatine deficiency syndrome [RCV002890725]likely benign1913997781399778Human1name
156245808CV2105625single nucleotide variantNM_000156.6(GAMT):c.328-11C>TCerebral creatine deficiency syndrome [RCV002933368]likely benign1913995981399598Human1name
156013420CV2121227single nucleotide variantNM_000156.6(GAMT):c.182-17G>ACerebral creatine deficiency syndrome [RCV002948402]likely benign1913999551399955Human1name
155926077CV2145086single nucleotide variantNM_000156.6(GAMT):c.392-15C>TCerebral creatine deficiency syndrome [RCV003013411]likely benign1913992101399210Human1name
155922807CV2280145single nucleotide variantNM_000156.6(GAMT):c.570+46G>AInborn genetic diseases [RCV002859900]uncertain significance1913988701398870Human1name
405158483CV2858232single nucleotide variantNM_000156.6(GAMT):c.392-13G>TCerebral creatine deficiency syndrome [RCV003586508]likely benign1913992081399208Human1name
405162413CV2868296single nucleotide variantNM_000156.6(GAMT):c.182-12G>ACerebral creatine deficiency syndrome [RCV003586846]likely benign1913999501399950Human1name
405164487CV2870270single nucleotide variantNM_000156.6(GAMT):c.327+17A>GCerebral creatine deficiency syndrome [RCV003587015]likely benign1913997761399776Human1name
405163894CV2873263deletionNM_000156.6(GAMT):c.328-13delCerebral creatine deficiency syndrome [RCV003586965]benign1913996001399600Human1name
405164595CV2880743single nucleotide variantNM_000156.6(GAMT):c.391+20A>GCerebral creatine deficiency syndrome [RCV003587025]likely benign1913995041399504Human1name
405167458CV2889991single nucleotide variantNM_000156.6(GAMT):c.327+15G>TCerebral creatine deficiency syndrome [RCV003587282]likely benign1913997781399778Human1name
405170017CV2902954single nucleotide variantNM_000156.6(GAMT):c.459+19C>TCerebral creatine deficiency syndrome [RCV003587507]likely benign1913991091399109Human1name
405169857CV2906266single nucleotide variantNM_000156.6(GAMT):c.570+11C>TCerebral creatine deficiency syndrome [RCV003587492]likely benign1913989051398905Human1name
405169902CV2906367single nucleotide variantNM_000156.6(GAMT):c.327+19G>ACerebral creatine deficiency syndrome [RCV003587496]likely benign1913997741399774Human1name
405159497CV2933774single nucleotide variantNM_000156.6(GAMT):c.392-13G>ACerebral creatine deficiency syndrome [RCV003586587]likely benign1913992081399208Human1name
405248409CV2953107single nucleotide variantNM_000156.6(GAMT):c.392-14T>CCerebral creatine deficiency syndrome [RCV003746788]likely benign1913992091399209Human1name
405249627CV2980110single nucleotide variantNM_000156.6(GAMT):c.392-17T>GCerebral creatine deficiency syndrome [RCV003747207]likely benign1913992121399212Human1name
405249413CV2988503single nucleotide variantNM_000156.6(GAMT):c.181+12C>TCerebral creatine deficiency syndrome [RCV003747116]likely benign1914012841401284Human1name
405250230CV3004703single nucleotide variantNM_000156.6(GAMT):c.571-12A>GCerebral creatine deficiency syndrome [RCV003747367]likely benign1913975111397511Human1name
405250168CV3012970single nucleotide variantNM_000156.6(GAMT):c.327+18G>ACerebral creatine deficiency syndrome [RCV003747435]likely benign1913997751399775Human1name
405246852CV3021827single nucleotide variantNM_000156.6(GAMT):c.327+19G>TCerebral creatine deficiency syndrome [RCV003746142]likely benign1913997741399774Human1name
405246975CV3022817single nucleotide variantNM_000156.6(GAMT):c.460-15A>GCerebral creatine deficiency syndrome [RCV003746186]likely benign1913990411399041Human1name
405247516CV3043685single nucleotide variantNM_000156.6(GAMT):c.328-15T>CCerebral creatine deficiency syndrome [RCV003746400]likely benign1913996021399602Human1name
405247467CV3046594single nucleotide variantNM_000156.6(GAMT):c.328-15T>GCerebral creatine deficiency syndrome [RCV003746381]likely benign1913996021399602Human1name
405247755CV3056577single nucleotide variantNM_000156.6(GAMT):c.327+14C>TCerebral creatine deficiency syndrome [RCV003746496]likely benign1913997791399779Human1name
405250433CV3065669single nucleotide variantNM_000156.6(GAMT):c.460-12C>GCerebral creatine deficiency syndrome [RCV003747526]likely benign1913990381399038Human1name
405250463CV3066071single nucleotide variantNM_000156.6(GAMT):c.459+11C>TCerebral creatine deficiency syndrome [RCV003747540]likely benign1913991171399117Human1name
405250706CV3075277single nucleotide variantNM_000156.6(GAMT):c.392-11T>CCerebral creatine deficiency syndrome [RCV003747664]likely benign1913992061399206Human1name
405250575CV3076116single nucleotide variantNM_000156.6(GAMT):c.570+17T>CCerebral creatine deficiency syndrome [RCV003747587]likely benign1913988991398899Human1name
405112399CV3133598single nucleotide variantNM_000156.6(GAMT):c.391+18G>CCerebral creatine deficiency syndrome [RCV003836391]likely benign1913995061399506Human1name
405197319CV3146631single nucleotide variantNM_000156.6(GAMT):c.392-10C>TCerebral creatine deficiency syndrome [RCV003843986]likely benign1913992051399205Human1name
405173373CV3151884single nucleotide variantNM_000156.6(GAMT):c.327+11G>ACerebral creatine deficiency syndrome [RCV003858035]likely benign1913997821399782Human1name
405195197CV3168012single nucleotide variantNM_000156.6(GAMT):c.181+13C>GCerebral creatine deficiency syndrome [RCV003860144]likely benign1914012831401283Human1name
402473874CV3172290single nucleotide variantNM_000156.6(GAMT):c.570+11C>GCerebral creatine deficiency syndrome [RCV003874893]likely benign1913989051398905Human1name
405002121CV3184105single nucleotide variantNM_000156.6(GAMT):c.327+15G>CCerebral creatine deficiency syndrome [RCV003882688]likely benign1913997781399778Human1name
8566758CV33919single nucleotide variantNM_000156.6(GAMT):c.460-31G>ADeficiency of guanidinoacetate methyltransferase [RCV000020143]|not provided [RCV000829815]|not specified [RCV004597730]benign1913990571399057Human1name , alternate_id
11664775CV348220single nucleotide variantNM_000156.6(GAMT):c.328-10C>TCerebral creatine deficiency syndrome [RCV000551075]|Deficiency of guanidinoacetate methyltransferase [RCV000264765]|not provided [RCV001705492]|not specified [RCV000437904]likely benign|uncertain significance1913995971399597Human2name , alternate_id
597946858CV3771551single nucleotide variantNM_000156.6(GAMT):c.328-16T>CCerebral creatine deficiency syndrome [RCV005120076]likely benign1913996031399603Human1name
12840584CV377330single nucleotide variantNM_000156.6(GAMT):c.459+17T>CCerebral creatine deficiency syndrome [RCV002063338]|not specified [RCV000430994]likely benign1913991111399111Human1name
12836759CV377540single nucleotide variantNM_000156.6(GAMT):c.181+16C>ACerebral creatine deficiency syndrome [RCV001861554]|not specified [RCV000423973]likely benign1914012801401280Human1name
13534478CV507228single nucleotide variantNM_000156.6(GAMT):c.327+16C>Tnot specified [RCV000607330]likely benign1913997771399777Humanname
13539427CV507627single nucleotide variantNM_000156.6(GAMT):c.570+60A>Gnot specified [RCV000613258]likely benign1913988561398856Humanname
13536872CV507634single nucleotide variantNM_000156.6(GAMT):c.181+10G>CCerebral creatine deficiency syndrome [RCV000655374]|not specified [RCV000609604]likely benign1914012861401286Human1name
13626796CV532749single nucleotide variantNM_000156.6(GAMT):c.391+15G>TCerebral creatine deficiency syndrome [RCV000655365]|Deficiency of guanidinoacetate methyltransferase [RCV005252056]|not specified [RCV002298720]pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance1913995091399509Human2name , alternate_id
14717025CV668711single nucleotide variantNM_000156.6(GAMT):c.571-60C>Tnot provided [RCV000829923]benign1913975591397559Humanname
150429048CV1188720single nucleotide variantNM_000156.6(GAMT):c.570+550C>Tnot provided [RCV001563079]likely benign1913983661398366Humanname
150449625CV1202465single nucleotide variantNM_000156.6(GAMT):c.181+112C>Tnot provided [RCV001585062]likely benign1914011841401184Humanname
150488006CV1225994single nucleotide variantNM_000156.6(GAMT):c.182-173G>Anot provided [RCV001618155]benign1914001111400111Humanname
150488104CV1237430single nucleotide variantNM_000156.6(GAMT):c.570+244T>Cnot provided [RCV001654279]benign1913986721398672Humanname
150476593CV1263666single nucleotide variantNM_000156.6(GAMT):c.182-308A>Gnot provided [RCV001685189]benign1914002461400246Humanname
150454047CV1265942deletionNM_000156.6(GAMT):c.570+304delnot provided [RCV001692519]benign1913986121398612Humanname
8691180CV141140single nucleotide variantNM_000156.6(GAMT):c.570+165G>ADeficiency of guanidinoacetate methyltransferase [RCV000605328]|not provided [RCV004717012]|not specified [RCV000125193]benign1913987511398751Human1name , alternate_id
405273545CV3197835single nucleotide variantNM_000156.6(GAMT):c.570+204C>TGAMT-related disorder [RCV003901798]likely benign1913987121398712Humanname , trait , alternate_id
405283108CV3218413single nucleotide variantNM_000156.6(GAMT):c.570+221G>AGAMT-related disorder [RCV003957218]likely benign1913986951398695Humanname , trait , alternate_id
12842663CV377328single nucleotide variantNM_000156.6(GAMT):c.570+241G>CGAMT-related disorder [RCV003932578]|not provided [RCV001720004]likely benign1913986751398675Human1name , trait , alternate_id
12834907CV379490single nucleotide variantNM_000156.6(GAMT):c.570+133G>AGAMT-related disorder [RCV003970113]|not provided [RCV004703926]|not specified [RCV000420756]benign|likely benign1913987831398783Human1name , trait , alternate_id
617149788CV4021252single nucleotide variantNM_000156.6(GAMT):c.570+153C>Anot provided [RCV005425221]likely benign1913987631398763Humanname
14398987CV614454single nucleotide variantNM_000156.6(GAMT):c.570+161T>ADeficiency of guanidinoacetate methyltransferase [RCV000767984]|GAMT-related disorder [RCV003955495]likely benign|uncertain significance1913987551398755Human1name , trait , alternate_id
14733681CV669629single nucleotide variantNM_000156.6(GAMT):c.391+160A>Tnot provided [RCV000837205]likely benign1913993641399364Humanname
126743162CV1021818duplicationNM_000156.6(GAMT):c.182-3_182dupDeficiency of guanidinoacetate methyltransferase [RCV001336702]uncertain significance1913999371399938Human1name , alternate_id
127256399CV1056546deletionNM_000156.6(GAMT):c.163_181+6delCerebral creatine deficiency syndrome [RCV001379555]likely pathogenic1914012901401314Human1name
127261069CV1086991deletionNM_000156.6(GAMT):c.158_181+7delDeficiency of guanidinoacetate methyltransferase [RCV001420144]pathogenic1914012891401319Human1name , alternate_id
150499211CV1270783microsatelliteNM_000156.6(GAMT):c.570+472GAAA[7]not provided [RCV001689333]benign1913984201398421Humanname
156270261CV2097462single nucleotide variantNM_000156.6(GAMT):c.6C>T (p.Ser2=)Cerebral creatine deficiency syndrome [RCV002877579]likely benign1914014711401471Human1name
13465209CV470508single nucleotide variantNM_000156.6(GAMT):c.9C>T (p.Ala3=)Cerebral creatine deficiency syndrome [RCV000545906]likely benign1914014681401468Human1name
127283451CV1084492microsatelliteNM_000156.6(GAMT):c.391+9_391+15delCerebral creatine deficiency syndrome [RCV001411821]likely benign1913995091399515Humanname
127273139CV1106249single nucleotide variantNM_000156.6(GAMT):c.27C>T (p.Ile9=)Cerebral creatine deficiency syndrome [RCV001442430]likely benign1914014501401450Human1name
152082077CV1526127single nucleotide variantNM_000156.6(GAMT):c.24C>A (p.Pro8=)Cerebral creatine deficiency syndrome [RCV002170665]likely benign1914014531401453Human1name
156251845CV2157678single nucleotide variantNM_000156.6(GAMT):c.18G>A (p.Ala6=)Cerebral creatine deficiency syndrome [RCV003008469]likely benign1914014591401459Human1name
405174709CV2925864single nucleotide variantNM_000156.6(GAMT):c.21C>A (p.Thr7=)Cerebral creatine deficiency syndrome [RCV003587954]likely benign1914014561401456Human1name
13532273CV506567microsatelliteNM_000156.6(GAMT):c.459+9_459+12delCerebral creatine deficiency syndrome [RCV001398453]|Deficiency of guanidinoacetate methyltransferase [RCV002305515]|not specified [RCV000601307]likely benign|uncertain significance1913991161399119Humanname , alternate_id
126920396CV1051142single nucleotide variantNM_000156.6(GAMT):c.8C>T (p.Ala3Val)Cerebral creatine deficiency syndrome [RCV001373781]|Inborn genetic diseases [RCV002377557]uncertain significance1914014691401469Human2name
127277872CV1084499single nucleotide variantNM_000156.6(GAMT):c.51C>T (p.Ser17=)Cerebral creatine deficiency syndrome [RCV001408101]likely benign1914014261401426Human1name
127238613CV1084500single nucleotide variantNM_000156.6(GAMT):c.36C>T (p.Pro12=)Cerebral creatine deficiency syndrome [RCV001415137]likely benign1914014411401441Human1name
127327709CV1127660single nucleotide variantNM_000156.6(GAMT):c.33G>A (p.Ala11=)Cerebral creatine deficiency syndrome [RCV001469197]likely benign1914014441401444Human1name
127327967CV1148585single nucleotide variantNM_000156.6(GAMT):c.96G>A (p.Thr32=)Cerebral creatine deficiency syndrome [RCV001486541]likely benign1914013811401381Human1name
127321553CV1148586single nucleotide variantNM_000156.6(GAMT):c.33G>T (p.Ala11=)Cerebral creatine deficiency syndrome [RCV001484571]likely benign1914014441401444Human1name
151885367CV1431894single nucleotide variantNM_000156.6(GAMT):c.2T>C (p.Met1Thr)Cerebral creatine deficiency syndrome [RCV002037737]pathogenic1914014751401475Human1name
152129106CV1583846single nucleotide variantNM_000156.6(GAMT):c.90G>A (p.Ala30=)Cerebral creatine deficiency syndrome [RCV002199083]likely benign1914013871401387Human1name
152081098CV1589358deletionNM_000156.6(GAMT):c.328-19_328-18delCerebral creatine deficiency syndrome [RCV002112762]likely benign1913996051399606Human1name
152033150CV1614982single nucleotide variantNM_000156.6(GAMT):c.87A>T (p.Ala29=)Cerebral creatine deficiency syndrome [RCV002086719]likely benign1914013901401390Human1name
156141477CV1898571single nucleotide variantNM_000156.6(GAMT):c.66G>T (p.Ala22=)Cerebral creatine deficiency syndrome [RCV003082218]likely benign1914014111401411Human1name
10396027CV203557single nucleotide variantNM_000156.6(GAMT):c.7G>T (p.Ala3Ser)not specified [RCV000187558]likely benign1914014701401470Humanname
10396026CV203558single nucleotide variantNM_000156.6(GAMT):c.7G>A (p.Ala3Thr)Cerebral creatine deficiency syndrome [RCV000457994]|Deficiency of guanidinoacetate methyltransferase [RCV000764186]|Inborn genetic diseases [RCV002317099]likely benign|uncertain significance1914014701401470Human3name , alternate_id
10397555CV203559single nucleotide variantNM_000156.6(GAMT):c.1A>G (p.Met1Val)Cerebral creatine deficiency syndrome [RCV002516992]|Deficiency of guanidinoacetate methyltransferase [RCV001329066]pathogenic|likely pathogenic|uncertain significance1914014761401476Human2name , alternate_id
156082170CV2083732single nucleotide variantNM_000156.6(GAMT):c.54C>G (p.Pro18=)Cerebral creatine deficiency syndrome [RCV002847422]likely benign1914014231401423Human1name
156232166CV2118235single nucleotide variantNM_000156.6(GAMT):c.45C>T (p.Asn15=)Cerebral creatine deficiency syndrome [RCV002958551]likely benign1914014321401432Human1name
405171269CV2897500deletionNM_000156.6(GAMT):c.392-15_392-14delCerebral creatine deficiency syndrome [RCV003587621]likely benign1913992091399210Human1name
405249151CV2969443single nucleotide variantNM_000156.6(GAMT):c.69G>C (p.Ala23=)Cerebral creatine deficiency syndrome [RCV003747005]likely benign1914014081401408Human1name
405249084CV2975568single nucleotide variantNM_000156.6(GAMT):c.39C>G (p.Gly13=)Cerebral creatine deficiency syndrome [RCV003746983]likely benign1914014381401438Human1name
405249359CV2981346single nucleotide variantNM_000156.6(GAMT):c.72C>A (p.Pro24=)Cerebral creatine deficiency syndrome [RCV003747097]likely benign1914014051401405Human1name
405247675CV3035919single nucleotide variantNM_000156.6(GAMT):c.81C>T (p.Tyr27=)Cerebral creatine deficiency syndrome [RCV003746317]likely benign1914013961401396Human1name
405250369CV3061589deletionNM_000156.6(GAMT):c.328-23_328-20delCerebral creatine deficiency syndrome [RCV003747497]likely benign1913996071399610Human1name
408391547CV3523249deletionNM_000156.6(GAMT):c.182-14_182-13delnot provided [RCV004770622]uncertain significance1913999511399952Humanname
13626800CV532823single nucleotide variantNM_000156.6(GAMT):c.39C>A (p.Gly13=)Cerebral creatine deficiency syndrome [RCV000655372]|Deficiency of guanidinoacetate methyltransferase [RCV002305525]|Inborn genetic diseases [RCV002352066]likely benign1914014381401438Human3name , alternate_id
15126980CV684781single nucleotide variantNM_000156.6(GAMT):c.54C>T (p.Pro18=)Cerebral creatine deficiency syndrome [RCV000862841]|Deficiency of guanidinoacetate methyltransferase [RCV002305553]|GAMT-related disorder [RCV003938229]likely benign1914014231401423Human2name , trait , alternate_id
15179236CV741614single nucleotide variantNM_000156.6(GAMT):c.36C>G (p.Pro12=)Cerebral creatine deficiency syndrome [RCV000907062]likely benign1914014411401441Human1name
15145764CV786085single nucleotide variantNM_000156.6(GAMT):c.42G>A (p.Glu14=)Cerebral creatine deficiency syndrome [RCV000983723]likely benign1914014351401435Human1name
26916290CV847397single nucleotide variantNM_000156.6(GAMT):c.39C>T (p.Gly13=)Cerebral creatine deficiency syndrome [RCV001041865]uncertain significance1914014381401438Human1name
26913655CV847399deletionNM_000156.6(GAMT):c.24del (p.Ile9fs)Cerebral creatine deficiency syndrome [RCV001054392]|Deficiency of guanidinoacetate methyltransferase [RCV003467775]|GAMT-related disorder [RCV003413863]|Inborn genetic diseases [RCV002429662]|not provided [RCV003313176]pathogenic|likely pathogenic1914014531401453Human3name , trait , alternate_id
38460307CV938605single nucleotide variantNM_000156.6(GAMT):c.3G>A (p.Met1Ile)Cerebral creatine deficiency syndrome [RCV001211804]pathogenic|likely pathogenic1914014741401474Human1name
127268214CV1064667deletionNM_000156.6(GAMT):c.64del (p.Ala22fs)Cerebral creatine deficiency syndrome [RCV001389180]|Deficiency of guanidinoacetate methyltransferase [RCV004584892]pathogenic|likely pathogenic1914014131401413Human2name , alternate_id
127281425CV1084494single nucleotide variantNM_000156.6(GAMT):c.273C>T (p.Cys91=)Cerebral creatine deficiency syndrome [RCV001410480]likely benign1913998471399847Human1name
127230754CV1084495single nucleotide variantNM_000156.6(GAMT):c.243G>A (p.Ala81=)Cerebral creatine deficiency syndrome [RCV001394896]likely benign1913998771399877Human1name
127277241CV1084496single nucleotide variantNM_000156.6(GAMT):c.162C>G (p.Ala54=)Cerebral creatine deficiency syndrome [RCV001407646]likely benign1914013151401315Human1name
127238632CV1084497single nucleotide variantNM_000156.6(GAMT):c.147T>C (p.Tyr49=)Cerebral creatine deficiency syndrome [RCV001415140]likely benign1914013301401330Human1name
127272245CV1084498single nucleotide variantNM_000156.6(GAMT):c.120G>A (p.Pro40=)Cerebral creatine deficiency syndrome [RCV001405664]likely benign1914013571401357Human1name
127264594CV1106245single nucleotide variantNM_000156.6(GAMT):c.162C>T (p.Ala54=)Cerebral creatine deficiency syndrome [RCV001428889]likely benign1914013151401315Human1name
127284342CV1106246single nucleotide variantNM_000156.6(GAMT):c.156G>A (p.Ala52=)Cerebral creatine deficiency syndrome [RCV001449339]likely benign1914013211401321Human1name
127236520CV1106247single nucleotide variantNM_000156.6(GAMT):c.141C>G (p.Thr47=)Cerebral creatine deficiency syndrome [RCV001433357]likely benign1914013361401336Human1name
127241386CV1106248single nucleotide variantNM_000156.6(GAMT):c.102G>T (p.Leu34=)Cerebral creatine deficiency syndrome [RCV001423549]likely benign1914013751401375Human1name
127296561CV1127655single nucleotide variantNM_000156.6(GAMT):c.291G>A (p.Gln97=)Cerebral creatine deficiency syndrome [RCV001460024]likely benign1913998291399829Human1name
127300202CV1127656single nucleotide variantNM_000156.6(GAMT):c.276T>C (p.Asn92=)Cerebral creatine deficiency syndrome [RCV001478372]likely benign1913998441399844Human1name
127321746CV1127657single nucleotide variantNM_000156.6(GAMT):c.198G>A (p.Glu66=)Cerebral creatine deficiency syndrome [RCV001467360]likely benign1913999221399922Human1name
127324255CV1127658single nucleotide variantNM_000156.6(GAMT):c.195G>A (p.Leu65=)Cerebral creatine deficiency syndrome [RCV001468160]likely benign1913999251399925Human1name
127297542CV1127659single nucleotide variantNM_000156.6(GAMT):c.100C>T (p.Leu34=)Cerebral creatine deficiency syndrome [RCV001460270]likely benign1914013771401377Human1name
127286461CV1148584single nucleotide variantNM_000156.6(GAMT):c.207T>C (p.Phe69=)Cerebral creatine deficiency syndrome [RCV001494232]likely benign1913999131399913Human1name
150552958CV1295638single nucleotide variantNM_000156.6(GAMT):c.114C>T (p.Gly38=)Deficiency of guanidinoacetate methyltransferase [RCV004596481]|not provided [RCV001768570]likely pathogenic|uncertain significance1914013631401363Human1name , alternate_id
151835625CV1371724single nucleotide variantNM_000156.6(GAMT):c.16G>A (p.Ala6Thr)Cerebral creatine deficiency syndrome [RCV001935523]|Inborn genetic diseases [RCV004631823]uncertain significance1914014611401461Human2name
151832743CV1388125single nucleotide variantNM_000156.6(GAMT):c.11C>G (p.Pro4Arg)Cerebral creatine deficiency syndrome [RCV001955836]uncertain significance1914014661401466Human1name
8691176CV141136single nucleotide variantNM_000156.6(GAMT):c.225G>A (p.Ala75=)Cerebral creatine deficiency syndrome [RCV000862748]|Deficiency of guanidinoacetate methyltransferase [RCV001127425]|Inborn genetic diseases [RCV002444588]|not specified [RCV000125189]benign|likely benign|uncertain significance1913998951399895Human3name , alternate_id
8691177CV141137single nucleotide variantNM_000156.6(GAMT):c.279C>T (p.Asp93=)Cerebral creatine deficiency syndrome [RCV000655373]|Deficiency of guanidinoacetate methyltransferase [RCV001127002]|Inborn genetic diseases [RCV002316369]|not provided [RCV001701678]|not specified [RCV000125190]benign|likely benign|conflicting interpretations of pathogenicity1913998411399841Human3name , alternate_id
8691181CV141141single nucleotide variantNM_000156.5(GAMT):c.11C>T (p.Pro4Leu)not provided [RCV000125196]benign1914014661401466Humanname
151784479CV1474613single nucleotide variantNM_000156.6(GAMT):c.26T>A (p.Ile9Asn)Cerebral creatine deficiency syndrome [RCV001930755]uncertain significance1914014511401451Human1name
151714563CV1477189duplicationNM_000156.6(GAMT):c.64dup (p.Ala22fs)Cerebral creatine deficiency syndrome [RCV001908704]|Deficiency of guanidinoacetate methyltransferase [RCV003159217]pathogenic1914014121401413Human2name , alternate_id
152171179CV1543999single nucleotide variantNM_000156.6(GAMT):c.165C>T (p.Ala55=)Cerebral creatine deficiency syndrome [RCV002162016]likely benign1914013121401312Human1name
152068003CV1571103single nucleotide variantNM_000156.6(GAMT):c.108C>T (p.Ile36=)Cerebral creatine deficiency syndrome [RCV002129230]likely benign1914013691401369Human1name
152114824CV1623041single nucleotide variantNM_000156.6(GAMT):c.267C>A (p.Ile89=)Cerebral creatine deficiency syndrome [RCV002174793]likely benign1913998531399853Human1name
152129098CV1637416single nucleotide variantNM_000156.6(GAMT):c.138G>A (p.Glu46=)Cerebral creatine deficiency syndrome [RCV002217818]likely benign1914013391401339Human1name
152107419CV1639181single nucleotide variantNM_000156.6(GAMT):c.267C>T (p.Ile89=)Cerebral creatine deficiency syndrome [RCV002152594]likely benign1913998531399853Human1name
152033023CV1639337single nucleotide variantNM_000156.6(GAMT):c.228A>T (p.Ser76=)Cerebral creatine deficiency syndrome [RCV002185079]|Deficiency of guanidinoacetate methyltransferase [RCV004822991]|not provided [RCV002224142]likely benign|uncertain significance1913998921399892Human2name , alternate_id
152063658CV1644803single nucleotide variantNM_000156.6(GAMT):c.171C>G (p.Ala57=)Cerebral creatine deficiency syndrome [RCV002147098]likely benign1914013061401306Human1name
152041539CV1669881single nucleotide variantNM_000156.6(GAMT):c.23C>T (p.Pro8Leu)not provided [RCV002224783]uncertain significance1914014541401454Humanname
156409735CV1922847single nucleotide variantNM_000156.6(GAMT):c.10C>T (p.Pro4Ser)Cerebral creatine deficiency syndrome [RCV002607645]uncertain significance1914014671401467Human1name
156440625CV1943678single nucleotide variantNM_000156.6(GAMT):c.183G>A (p.Gly61=)Cerebral creatine deficiency syndrome [RCV003110661]likely benign1913999371399937Human1name
10396043CV203555single nucleotide variantNM_000156.6(GAMT):c.22C>A (p.Pro8Thr)Cerebral creatine deficiency syndrome [RCV000815633]|Deficiency of guanidinoacetate methyltransferase [RCV001127428]|Inborn genetic diseases [RCV002317101]|not provided [RCV000187583]likely benign|uncertain significance1914014551401455Human3name , alternate_id
10397557CV203556single nucleotide variantNM_000156.6(GAMT):c.17C>T (p.Ala6Val)Cerebral creatine deficiency syndrome [RCV002517862]|Deficiency of guanidinoacetate methyltransferase [RCV001828001]|Inborn genetic diseases [RCV003258689]|not provided [RCV000187582]uncertain significance1914014601401460Human3name , alternate_id
156324144CV2053969deletionNM_000156.6(GAMT):c.65del (p.Ala22fs)Cerebral creatine deficiency syndrome [RCV002810280]pathogenic1914014121401412Human1name
156001866CV2074668single nucleotide variantNM_000156.6(GAMT):c.246C>T (p.Pro82=)Cerebral creatine deficiency syndrome [RCV002843442]likely benign1913998741399874Human1name
156073196CV2102051single nucleotide variantNM_000156.6(GAMT):c.246C>A (p.Pro82=)Cerebral creatine deficiency syndrome [RCV002912450]likely benign1913998741399874Human1name
156114486CV2173848duplicationNM_000156.6(GAMT):c.82dup (p.Asp28fs)Cerebral creatine deficiency syndrome [RCV003055218]pathogenic1914013941401395Human1name
11644125CV273200single nucleotide variantNM_000156.6(GAMT):c.189G>C (p.Arg63=)Cerebral creatine deficiency syndrome [RCV001086826]|Deficiency of guanidinoacetate methyltransferase [RCV000329271]|Inborn genetic diseases [RCV002314028]|not provided [RCV000726258]|not specified [RCV000406805]likely benign|conflicting interpretations of pathogenicity|uncertain significance1913999311399931Human3name , alternate_id
401722262CV2735595duplicationNM_000156.6(GAMT):c.58dup (p.Trp20fs)Deficiency of guanidinoacetate methyltransferase [RCV003307396]pathogenic1914014181401419Human1name , alternate_id
401941314CV2835956deletionNM_000156.6(GAMT):c.50del (p.Ser17fs)Cerebral creatine deficiency syndrome [RCV003586425]|Deficiency of guanidinoacetate methyltransferase [RCV003461655]pathogenic|likely pathogenic1914014271401427Human2name , alternate_id
405161385CV2870817single nucleotide variantNM_000156.6(GAMT):c.237G>A (p.Gln79=)Cerebral creatine deficiency syndrome [RCV003586762]likely benign1913998831399883Human1name
405162705CV2875574single nucleotide variantNM_000156.6(GAMT):c.264C>T (p.Ile88=)Cerebral creatine deficiency syndrome [RCV003586868]likely benign1913998561399856Human1name
405173223CV2910350single nucleotide variantNM_000156.6(GAMT):c.292C>A (p.Arg98=)Cerebral creatine deficiency syndrome [RCV003587826]likely benign1913998281399828Human1name
405248399CV2949539single nucleotide variantNM_000156.6(GAMT):c.222A>G (p.Ala74=)Cerebral creatine deficiency syndrome [RCV003746785]likely benign1913998981399898Human1name
405249284CV2983998single nucleotide variantNM_000156.6(GAMT):c.144C>T (p.Pro48=)Cerebral creatine deficiency syndrome [RCV003747048]likely benign1914013331401333Human1name
405246947CV3025738single nucleotide variantNM_000156.6(GAMT):c.264C>A (p.Ile88=)Cerebral creatine deficiency syndrome [RCV003746174]likely benign1913998561399856Human1name
405250683CV3077353single nucleotide variantNM_000156.6(GAMT):c.168C>T (p.Ala56=)Cerebral creatine deficiency syndrome [RCV003747655]likely benign1914013091401309Human1name
11664817CV349431single nucleotide variantNM_000156.6(GAMT):c.20C>A (p.Thr7Asn)Cerebral creatine deficiency syndrome [RCV001245927]|Deficiency of guanidinoacetate methyltransferase [RCV000350120]|Inborn genetic diseases [RCV004021739]uncertain significance1914014571401457Human3name , alternate_id
597678436CV3680806single nucleotide variantNM_000156.6(GAMT):c.10C>G (p.Pro4Ala)Inborn genetic diseases [RCV004982331]uncertain significance1914014671401467Human1name
12837111CV377332single nucleotide variantNM_000156.6(GAMT):c.153C>T (p.His51=)Cerebral creatine deficiency syndrome [RCV000537666]|not provided [RCV000424598]likely benign1914013241401324Human1name
12837941CV377539single nucleotide variantNM_000156.6(GAMT):c.270G>A (p.Glu90=)Cerebral creatine deficiency syndrome [RCV000458363]|GAMT-related disorder [RCV003922797]|not specified [RCV000426041]likely benign1913998501399850Human2name , trait , alternate_id
597927365CV3783450single nucleotide variantNM_000156.6(GAMT):c.162C>A (p.Ala54=)Cerebral creatine deficiency syndrome [RCV005116137]likely benign1914013151401315Human1name
597917495CV3861376duplicationNM_000156.6(GAMT):c.93dup (p.Thr32fs)Cerebral creatine deficiency syndrome [RCV005204533]pathogenic1914013831401384Human1name
13504414CV446066single nucleotide variantNM_000156.6(GAMT):c.25A>G (p.Ile9Val)Cerebral creatine deficiency syndrome [RCV001209203]|Deficiency of guanidinoacetate methyltransferase [RCV001127427]|GAMT-related disorder [RCV003419906]|Inborn genetic diseases [RCV002314907]|not provided [RCV000519092]uncertain significance1914014521401452Human3name , trait , alternate_id
13497875CV470500single nucleotide variantNM_000156.6(GAMT):c.258T>C (p.His86=)Cerebral creatine deficiency syndrome [RCV000526436]|not specified [RCV000599695]likely benign1913998621399862Human1name
13468172CV470507single nucleotide variantNM_000156.6(GAMT):c.141C>A (p.Thr47=)Cerebral creatine deficiency syndrome [RCV000557510]|not provided [RCV003886413]|not specified [RCV000613727]likely benign1914013361401336Human1name
13814035CV574900single nucleotide variantNM_000156.6(GAMT):c.165C>A (p.Ala55=)Cerebral creatine deficiency syndrome [RCV000690573]|Deficiency of guanidinoacetate methyltransferase [RCV001830504]likely benign|uncertain significance1914013121401312Human2name , alternate_id
13829470CV580509single nucleotide variantNM_000156.6(GAMT):c.219C>T (p.Ile73=)Cerebral creatine deficiency syndrome [RCV000975898]|GAMT-related disorder [RCV003938075]|Inborn genetic diseases [RCV002315321]|not provided [RCV001731907]likely benign1913999011399901Human3name , trait , alternate_id
14724941CV647780single nucleotide variantNM_000156.6(GAMT):c.282C>T (p.Gly94=)Cerebral creatine deficiency syndrome [RCV000798605]|Deficiency of guanidinoacetate methyltransferase [RCV001825573]|not provided [RCV003884732]likely benign|uncertain significance1913998381399838Human2name , alternate_id
15160910CV688968single nucleotide variantNM_000156.6(GAMT):c.201G>A (p.Val67=)Cerebral creatine deficiency syndrome [RCV000869109]|Deficiency of guanidinoacetate methyltransferase [RCV001275207]likely benign1913999191399919Human2name , alternate_id
15120747CV786084single nucleotide variantNM_000156.6(GAMT):c.105C>T (p.Arg35=)Cerebral creatine deficiency syndrome [RCV001490178]likely benign1914013721401372Human1name
26901413CV847394single nucleotide variantNM_000156.6(GAMT):c.183G>T (p.Gly61=)Cerebral creatine deficiency syndrome [RCV001049867]uncertain significance1913999371399937Human1name
126917370CV1051137single nucleotide variantNM_000156.6(GAMT):c.651G>A (p.Pro217=)Cerebral creatine deficiency syndrome [RCV001361130]|not provided [RCV001685352]likely benign|uncertain significance1913974191397419Human1name
126922518CV1051141single nucleotide variantNM_000156.6(GAMT):c.85G>A (p.Ala29Thr)Cerebral creatine deficiency syndrome [RCV001364766]uncertain significance1914013921401392Human1name
127268950CV1064666duplicationNM_000156.6(GAMT):c.144dup (p.Tyr49fs)Cerebral creatine deficiency syndrome [RCV001382287]pathogenic1914013321401333Human1name
127263690CV1064668single nucleotide variantNM_000156.6(GAMT):c.59G>A (p.Trp20Ter)Cerebral creatine deficiency syndrome [RCV001381037]|Deficiency of guanidinoacetate methyltransferase [RCV003462972]pathogenic|likely pathogenic1914014181401418Human2name , alternate_id
127260512CV1084482single nucleotide variantNM_000156.6(GAMT):c.690G>A (p.Thr230=)Cerebral creatine deficiency syndrome [RCV001420065]likely benign1913973801397380Human1name
127253386CV1084483single nucleotide variantNM_000156.6(GAMT):c.588G>A (p.Ala196=)Cerebral creatine deficiency syndrome [RCV001400527]likely benign1913974821397482Human1name
127255929CV1084484single nucleotide variantNM_000156.6(GAMT):c.579G>A (p.Gln193=)Cerebral creatine deficiency syndrome [RCV001401153]likely benign1913974911397491Human1name
127237045CV1084485single nucleotide variantNM_000156.6(GAMT):c.576G>A (p.Thr192=)Cerebral creatine deficiency syndrome [RCV001397023]likely benign1913974941397494Human1name
127233869CV1084488single nucleotide variantNM_000156.6(GAMT):c.537G>A (p.Lys179=)Cerebral creatine deficiency syndrome [RCV001414079]likely benign1913989491398949Human1name
127236576CV1084489single nucleotide variantNM_000156.6(GAMT):c.531G>A (p.Leu177=)Cerebral creatine deficiency syndrome [RCV001392098]likely benign1913989551398955Human1name
127279865CV1084490single nucleotide variantNM_000156.6(GAMT):c.525G>C (p.Gly175=)Cerebral creatine deficiency syndrome [RCV001409375]likely benign1913989611398961Human1name
127251534CV1084491single nucleotide variantNM_000156.6(GAMT):c.525G>A (p.Gly175=)Cerebral creatine deficiency syndrome [RCV001417804]likely benign1913989611398961Human1name
127272236CV1084493single nucleotide variantNM_000156.6(GAMT):c.309C>G (p.Ala103=)Cerebral creatine deficiency syndrome [RCV001405662]likely benign1913998111399811Human1name
127263817CV1106235single nucleotide variantNM_000156.6(GAMT):c.654C>T (p.Ala218=)Cerebral creatine deficiency syndrome [RCV001439414]|Inborn genetic diseases [RCV002368355]likely benign1913974161397416Human2name
127248427CV1106236single nucleotide variantNM_000156.6(GAMT):c.555C>T (p.Ile185=)Cerebral creatine deficiency syndrome [RCV001435825]likely benign1913989311398931Human1name
127248318CV1106237single nucleotide variantNM_000156.6(GAMT):c.516C>A (p.Thr172=)Cerebral creatine deficiency syndrome [RCV001424905]likely benign1913989701398970Human1name
127242356CV1106238single nucleotide variantNM_000156.6(GAMT):c.486G>C (p.Pro162=)Cerebral creatine deficiency syndrome [RCV001423717]likely benign1913990001399000Human1name
127278160CV1106239single nucleotide variantNM_000156.6(GAMT):c.486G>A (p.Pro162=)Cerebral creatine deficiency syndrome [RCV001444857]|Deficiency of guanidinoacetate methyltransferase [RCV001836407]likely benign1913990001399000Human2name , alternate_id
127263757CV1106240single nucleotide variantNM_000156.6(GAMT):c.475C>T (p.Leu159=)Cerebral creatine deficiency syndrome [RCV001428643]likely benign1913990111399011Human1name
127280122CV1106241single nucleotide variantNM_000156.6(GAMT):c.462C>T (p.Asn154=)Cerebral creatine deficiency syndrome [RCV001446270]likely benign1913990241399024Human1name
127276263CV1106242single nucleotide variantNM_000156.6(GAMT):c.429C>G (p.Thr143=)Cerebral creatine deficiency syndrome [RCV001432694]likely benign1913991581399158Human1name
127241006CV1106243single nucleotide variantNM_000156.6(GAMT):c.339G>A (p.Leu113=)Cerebral creatine deficiency syndrome [RCV001423481]likely benign1913995761399576Human1name
127289509CV1127646single nucleotide variantNM_000156.6(GAMT):c.654C>G (p.Ala218=)Cerebral creatine deficiency syndrome [RCV001450925]likely benign1913974161397416Human1name
127336214CV1127647single nucleotide variantNM_000156.6(GAMT):c.615G>A (p.Glu205=)Cerebral creatine deficiency syndrome [RCV001474825]likely benign1913974551397455Human1name
127294404CV1127648single nucleotide variantNM_000156.6(GAMT):c.591G>A (p.Leu197=)Cerebral creatine deficiency syndrome [RCV001459417]likely benign1913974791397479Human1name
127303845CV1127649single nucleotide variantNM_000156.6(GAMT):c.588G>T (p.Ala196=)Cerebral creatine deficiency syndrome [RCV001462027]likely benign1913974821397482Human1name
127337089CV1127650single nucleotide variantNM_000156.6(GAMT):c.540C>T (p.Ser180=)Cerebral creatine deficiency syndrome [RCV001475390]likely benign1913989461398946Human1name
127295093CV1127651single nucleotide variantNM_000156.6(GAMT):c.492C>T (p.Gly164=)Cerebral creatine deficiency syndrome [RCV001452407]likely benign1913989941398994Human1name
127295491CV1127652single nucleotide variantNM_000156.6(GAMT):c.456C>A (p.Ile152=)Cerebral creatine deficiency syndrome [RCV001459751]likely benign1913991311399131Human1name
127314452CV1127654single nucleotide variantNM_000156.6(GAMT):c.378C>T (p.Asp126=)Cerebral creatine deficiency syndrome [RCV001457690]likely benign1913995371399537Human1name
127304871CV1148580single nucleotide variantNM_000156.6(GAMT):c.624T>C (p.Arg208=)Cerebral creatine deficiency syndrome [RCV001499767]likely benign1913974461397446Human1name
127287001CV1148581single nucleotide variantNM_000156.6(GAMT):c.492C>G (p.Gly164=)Cerebral creatine deficiency syndrome [RCV001494663]likely benign1913989941398994Human1name
127285972CV1148582single nucleotide variantNM_000156.6(GAMT):c.414A>G (p.Pro138=)Cerebral creatine deficiency syndrome [RCV001493933]|Deficiency of guanidinoacetate methyltransferase [RCV001832647]|Inborn genetic diseases [RCV002329602]likely benign1913991731399173Human3name , alternate_id
150508279CV1214003single nucleotide variantNM_000156.6(GAMT):c.543G>A (p.Lys181=)not provided [RCV001596524]likely benign1913989431398943Humanname
151774903CV1362076single nucleotide variantNM_000156.6(GAMT):c.53C>T (p.Pro18Leu)Cerebral creatine deficiency syndrome [RCV001950518]uncertain significance1914014241401424Human1name
8691178CV141138single nucleotide variantNM_000156.6(GAMT):c.348G>A (p.Leu116=)Cerebral creatine deficiency syndrome [RCV000466247]|Deficiency of guanidinoacetate methyltransferase [RCV000377519]|GAMT-related disorder [RCV003915252]|Inborn genetic diseases [RCV002312879]|not specified [RCV000125191]benign|likely benign1913995671399567Human3name , trait , alternate_id
151769758CV1424641single nucleotide variantNM_000156.6(GAMT):c.30C>G (p.Phe10Leu)Cerebral creatine deficiency syndrome [RCV001874331]uncertain significance1914014471401447Human1name
151877881CV1481175single nucleotide variantNM_000156.6(GAMT):c.42G>C (p.Glu14Asp)Cerebral creatine deficiency syndrome [RCV001982134]|Deficiency of guanidinoacetate methyltransferase [RCV003130620]uncertain significance1914014351401435Human2name , alternate_id
151873944CV1511377single nucleotide variantNM_000156.6(GAMT):c.38G>C (p.Gly13Ala)Cerebral creatine deficiency syndrome [RCV001960804]uncertain significance1914014391401439Human1name
152159421CV1522635single nucleotide variantNM_000156.6(GAMT):c.672C>T (p.Ala224=)Cerebral creatine deficiency syndrome [RCV002140660]likely benign1913973981397398Human1name
152101536CV1540218single nucleotide variantNM_000156.6(GAMT):c.397C>T (p.Leu133=)Cerebral creatine deficiency syndrome [RCV002095597]likely benign1913991901399190Human1name
152026225CV1540678single nucleotide variantNM_000156.6(GAMT):c.516C>T (p.Thr172=)Cerebral creatine deficiency syndrome [RCV002104484]likely benign1913989701398970Human1name
152164674CV1625494single nucleotide variantNM_000156.6(GAMT):c.360G>A (p.Val120=)Cerebral creatine deficiency syndrome [RCV002160296]|not provided [RCV004704759]likely benign1913995551399555Human1name
152142161CV1636348single nucleotide variantNM_000156.6(GAMT):c.399G>T (p.Leu133=)Cerebral creatine deficiency syndrome [RCV002120522]likely benign1913991881399188Human1name
9692966CV177428single nucleotide variantNM_000156.6(GAMT):c.79T>C (p.Tyr27His)Cerebral creatine deficiency syndrome [RCV001081204]|Deficiency of guanidinoacetate methyltransferase [RCV001127426]|GAMT-related disorder [RCV003907448]|Guanidinoacetate methyltransferase (GAMT) deficiency [RCV001009545]|Inbenign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided1914013981401398Human5name , trait , alternate_id
156394335CV1958740single nucleotide variantNM_000156.6(GAMT):c.346C>T (p.Leu116=)Cerebral creatine deficiency syndrome [RCV002584207]likely benign1913995691399569Human1name
156113476CV1998652single nucleotide variantNM_000156.6(GAMT):c.89C>T (p.Ala30Val)Cerebral creatine deficiency syndrome [RCV002640033]uncertain significance1914013881401388Human1name
156368694CV2007534single nucleotide variantNM_000156.6(GAMT):c.693C>T (p.Pro231=)Cerebral creatine deficiency syndrome [RCV002676744]likely benign1913973771397377Human1name
155957659CV2010550single nucleotide variantNM_000156.6(GAMT):c.630G>A (p.Glu210=)Cerebral creatine deficiency syndrome [RCV002686354]likely benign1913974401397440Human1name
10396022CV203530single nucleotide variantNM_000156.6(GAMT):c.600C>T (p.Ala200=)Cerebral creatine deficiency syndrome [RCV000471429]|not provided [RCV004584623]|not specified [RCV000187551]benign|likely benign1913974701397470Human1name
10396019CV203543single nucleotide variantNM_000156.6(GAMT):c.312A>G (p.Pro104=)Cerebral creatine deficiency syndrome [RCV000866408]|not specified [RCV000187548]benign|likely benign|conflicting interpretations of pathogenicity1913998081399808Human1name
10397559CV203553single nucleotide variantNM_000156.6(GAMT):c.92A>T (p.Asp31Val)Inborn genetic diseases [RCV002371514]uncertain significance1914013851401385Human1name
10397558CV203554single nucleotide variantNM_000156.6(GAMT):c.68C>T (p.Ala23Val)Cerebral creatine deficiency syndrome [RCV001317220]|Deficiency of guanidinoacetate methyltransferase [RCV001833118]|Inborn genetic diseases [RCV005338098]|not provided [RCV000187584]uncertain significance1914014091401409Human3name , alternate_id
155986092CV2056050single nucleotide variantNM_000156.6(GAMT):c.324C>T (p.His108=)Cerebral creatine deficiency syndrome [RCV002818985]likely benign1913997961399796Human1name
156004579CV2106972single nucleotide variantNM_000156.6(GAMT):c.60G>A (p.Trp20Ter)Cerebral creatine deficiency syndrome [RCV002947953]|not provided [RCV004593104]pathogenic|likely pathogenic1914014171401417Human1name
156117983CV2111271single nucleotide variantNM_000156.6(GAMT):c.366C>G (p.Pro122=)Cerebral creatine deficiency syndrome [RCV002914044]likely benign1913995491399549Human1name
156375313CV2124048single nucleotide variantNM_000156.6(GAMT):c.321A>G (p.Thr107=)Cerebral creatine deficiency syndrome [RCV002942660]likely benign1913997991399799Human1name
156107084CV2139958deletionNM_000156.6(GAMT):c.289del (p.Gln97fs)Cerebral creatine deficiency syndrome [RCV003002438]|Deficiency of guanidinoacetate methyltransferase [RCV005028107]pathogenic1913998311399831Human2name , alternate_id
156023492CV2141482single nucleotide variantNM_000156.6(GAMT):c.690G>T (p.Thr230=)Cerebral creatine deficiency syndrome [RCV002976269]likely benign1913973801397380Human1name
155988201CV2150048single nucleotide variantNM_000156.6(GAMT):c.37G>T (p.Gly13Cys)Cerebral creatine deficiency syndrome [RCV003016696]uncertain significance1914014401401440Human1name
156238033CV2183830single nucleotide variantNM_000156.6(GAMT):c.606C>T (p.Phe202=)Cerebral creatine deficiency syndrome [RCV003059555]likely benign1913974641397464Human1name
155990852CV2281005single nucleotide variantNM_000156.6(GAMT):c.62G>A (p.Gly21Glu)Inborn genetic diseases [RCV002882425]uncertain significance1914014151401415Human1name
8560429CV23342single nucleotide variantNM_000156.6(GAMT):c.59G>C (p.Trp20Ser)Cerebral creatine deficiency syndrome [RCV000799554]|Deficiency of guanidinoacetate methyltransferase [RCV000008801]|Inborn genetic diseases [RCV002354153]|See cases [RCV002251891]|not provided [RCV000986201]pathogenic|likely pathogenic1914014181401418Human3name , alternate_id
156438336CV2401572single nucleotide variantNM_000156.6(GAMT):c.48C>A (p.Cys16Ter)Deficiency of guanidinoacetate methyltransferase [RCV003334081]|not provided [RCV003108276]pathogenic1914014291401429Human1name , alternate_id
401908183CV2815087single nucleotide variantNM_000156.6(GAMT):c.609G>A (p.Arg203=)not provided [RCV003423163]likely benign1913974611397461Humanname
401942857CV2835953duplicationNM_000156.6(GAMT):c.113dup (p.Lys39fs)Deficiency of guanidinoacetate methyltransferase [RCV003468250]likely pathogenic1914013631401364Human1name , alternate_id
405160601CV2866759single nucleotide variantNM_000156.6(GAMT):c.519C>T (p.Ser173=)Cerebral creatine deficiency syndrome [RCV003586699]likely benign1913989671398967Human1name
405163372CV2868803single nucleotide variantNM_000156.6(GAMT):c.678A>G (p.Pro226=)Cerebral creatine deficiency syndrome [RCV003586897]likely benign1913973921397392Human1name
405165666CV2881772single nucleotide variantNM_000156.6(GAMT):c.369C>G (p.Thr123=)Cerebral creatine deficiency syndrome [RCV003587123]likely benign1913995461399546Human1name
405166595CV2882444single nucleotide variantNM_000156.6(GAMT):c.429C>T (p.Thr143=)Cerebral creatine deficiency syndrome [RCV003587208]likely benign1913991581399158Human1name
405174055CV2909077single nucleotide variantNM_000156.6(GAMT):c.648A>G (p.Pro216=)Cerebral creatine deficiency syndrome [RCV003587732]likely benign1913974221397422Human1name
405175065CV2929331single nucleotide variantNM_000156.6(GAMT):c.666C>T (p.Tyr222=)Cerebral creatine deficiency syndrome [RCV003588012]likely benign1913974041397404Human1name
405249525CV2982772single nucleotide variantNM_000156.6(GAMT):c.393G>T (p.Gly131=)Cerebral creatine deficiency syndrome [RCV003747163]likely benign1913991941399194Human1name
405250000CV3004424deletionNM_000156.6(GAMT):c.144del (p.Tyr49fs)Cerebral creatine deficiency syndrome [RCV003747364]pathogenic1914013331401333Human1name
405247049CV3019919single nucleotide variantNM_000156.6(GAMT):c.513C>A (p.Leu171=)Cerebral creatine deficiency syndrome [RCV003746216]likely benign1913989731398973Human1name
405250818CV3074718single nucleotide variantNM_000156.6(GAMT):c.369C>T (p.Thr123=)Cerebral creatine deficiency syndrome [RCV003747636]likely benign1913995461399546Human1name
405212302CV3117847single nucleotide variantNM_000156.6(GAMT):c.651G>T (p.Pro217=)Cerebral creatine deficiency syndrome [RCV003823446]likely benign1913974191397419Human1name
405240666CV3166044single nucleotide variantNM_000156.6(GAMT):c.552C>T (p.Asp184=)Cerebral creatine deficiency syndrome [RCV003867056]likely benign1913989341398934Human1name
8566756CV33917single nucleotide variantNM_000156.6(GAMT):c.327G>A (p.Lys109=)Cerebral creatine deficiency syndrome [RCV000655367]|Deficiency of guanidinoacetate methyltransferase [RCV000020141]|Inborn genetic diseases [RCV002513136]|not provided [RCV000187564]pathogenic1913997931399793Human3name , alternate_id
8566757CV33918single nucleotide variantNM_000156.6(GAMT):c.438A>G (p.Thr146=)Cerebral creatine deficiency syndrome [RCV002054453]|Deficiency of guanidinoacetate methyltransferase [RCV000020142]benign|likely benign|uncertain significance1913991491399149Human2name , alternate_id
11664777CV342881single nucleotide variantNM_000156.6(GAMT):c.396C>A (p.Ile132=)Cerebral creatine deficiency syndrome [RCV000470375]|Deficiency of guanidinoacetate methyltransferase [RCV000267848]|not provided [RCV001532364]likely benign|uncertain significance1913991911399191Human2name , alternate_id
11664793CV348226single nucleotide variantNM_000156.6(GAMT):c.64G>A (p.Ala22Thr)Cerebral creatine deficiency syndrome [RCV001859934]|Deficiency of guanidinoacetate methyltransferase [RCV000295163]|not provided [RCV000519834]uncertain significance1914014131401413Human2name , alternate_id
408368629CV3502633single nucleotide variantNM_000156.6(GAMT):c.37G>C (p.Gly13Arg)not provided [RCV004723754]uncertain significance1914014401401440Humanname
597869544CV3771893single nucleotide variantNM_000156.6(GAMT):c.315G>T (p.Arg105=)Cerebral creatine deficiency syndrome [RCV005122403]likely benign1913998051399805Human1name
597905470CV3772927single nucleotide variantNM_000156.6(GAMT):c.693C>G (p.Pro231=)Cerebral creatine deficiency syndrome [RCV005112992]likely benign1913973771397377Human1name
12836050CV377532single nucleotide variantNM_000156.6(GAMT):c.585C>T (p.Pro195=)Cerebral creatine deficiency syndrome [RCV000870591]|Inborn genetic diseases [RCV002356580]|not specified [RCV000422729]likely benign1913974851397485Human2name
597865033CV3814178single nucleotide variantNM_000156.6(GAMT):c.498C>T (p.Leu166=)Cerebral creatine deficiency syndrome [RCV005147247]likely benign1913989881398988Human1name
597905516CV3853134single nucleotide variantNM_000156.6(GAMT):c.60G>C (p.Trp20Cys)Cerebral creatine deficiency syndrome [RCV005202791]likely pathogenic1914014171401417Human1name
12883628CV403199single nucleotide variantNM_000156.6(GAMT):c.669C>T (p.Tyr223=)Cerebral creatine deficiency syndrome [RCV000461957]likely benign1913974011397401Human1name
13501318CV469470single nucleotide variantNM_000156.6(GAMT):c.639G>A (p.Ala213=)Cerebral creatine deficiency syndrome [RCV000540532]|GAMT-related disorder [RCV003945343]likely benign1913974311397431Human2name , trait , alternate_id
13526699CV506570single nucleotide variantNM_000156.6(GAMT):c.402C>T (p.Tyr134=)Cerebral creatine deficiency syndrome [RCV001497166]|not specified [RCV000604493]likely benign1913991851399185Human1name
13533670CV506576single nucleotide variantNM_000156.6(GAMT):c.372G>C (p.Leu124=)Cerebral creatine deficiency syndrome [RCV001400299]|not specified [RCV000607165]likely benign1913995431399543Human1name
13527510CV506577single nucleotide variantNM_000156.6(GAMT):c.315G>A (p.Arg105=)Cerebral creatine deficiency syndrome [RCV001410989]|Deficiency of guanidinoacetate methyltransferase [RCV001127001]|not specified [RCV000599783]likely benign|uncertain significance1913998051399805Human2name , alternate_id
13538047CV506796single nucleotide variantNM_000156.6(GAMT):c.507C>T (p.Cys169=)Cerebral creatine deficiency syndrome [RCV003767466]|not specified [RCV000611269]likely benign1913989791398979Human1name
13526582CV507626single nucleotide variantNM_000156.6(GAMT):c.642G>A (p.Leu214=)Cerebral creatine deficiency syndrome [RCV001442050]|not provided [RCV001702813]|not specified [RCV000604315]likely benign1913974281397428Human1name
13626799CV532745single nucleotide variantNM_000156.6(GAMT):c.426G>A (p.Glu142=)Cerebral creatine deficiency syndrome [RCV000655371]likely benign1913991611399161Human1name
13816703CV570566single nucleotide variantNM_000156.6(GAMT):c.594G>A (p.Leu198=)Cerebral creatine deficiency syndrome [RCV000692504]likely benign|uncertain significance1913974761397476Human1name
13829281CV580386single nucleotide variantNM_000156.6(GAMT):c.59G>T (p.Trp20Leu)Cerebral creatine deficiency syndrome [RCV001051211]|Deficiency of guanidinoacetate methyltransferase [RCV003334006]|Inborn genetic diseases [RCV002313571]|not specified [RCV002307606]likely pathogenic|uncertain significance1914014181401418Human3name , alternate_id
13830559CV580543single nucleotide variantNM_000156.6(GAMT):c.384C>T (p.His128=)Cerebral creatine deficiency syndrome [RCV001436765]|Inborn genetic diseases [RCV002318154]|not provided [RCV003424310]likely benign1913995311399531Human2name
13829070CV580616single nucleotide variantNM_000156.6(GAMT):c.465C>T (p.His155=)Cerebral creatine deficiency syndrome [RCV001464882]|Inborn genetic diseases [RCV002314491]likely benign1913990211399021Human2name
14725681CV668713deletionNM_000156.6(GAMT):c.182-265_182-228delDeficiency of guanidinoacetate methyltransferase [RCV002305549]|not provided [RCV000833544]benign1914001661400203Human1name , alternate_id
15108623CV683148deletionNM_000156.6(GAMT):c.145del (p.Tyr49fs)Cerebral creatine deficiency syndrome [RCV001766770]|Deficiency of guanidinoacetate methyltransferase [RCV000857223]pathogenic1914013321401332Human2name , alternate_id
15156780CV688966single nucleotide variantNM_000156.6(GAMT):c.627G>A (p.Thr209=)Cerebral creatine deficiency syndrome [RCV000868301]likely benign1913974431397443Human1name
15155164CV688967single nucleotide variantNM_000156.6(GAMT):c.408G>A (p.Thr136=)Cerebral creatine deficiency syndrome [RCV001465701]|Deficiency of guanidinoacetate methyltransferase [RCV002305554]likely benign1913991791399179Human2name , alternate_id
15138396CV694336single nucleotide variantNM_000156.6(GAMT):c.529C>T (p.Leu177=)Cerebral creatine deficiency syndrome [RCV000877152]|Inborn genetic diseases [RCV002346034]likely benign1913989571398957Human2name
15164907CV756749single nucleotide variantNM_000156.6(GAMT):c.675C>T (p.Phe225=)Cerebral creatine deficiency syndrome [RCV002066042]likely benign1913973951397395Human1name
15144088CV772474single nucleotide variantNM_000156.6(GAMT):c.513C>T (p.Leu171=)Cerebral creatine deficiency syndrome [RCV001466758]likely benign1913989731398973Human1name
26922336CV847396single nucleotide variantNM_000156.6(GAMT):c.46T>G (p.Cys16Gly)Cerebral creatine deficiency syndrome [RCV001061889]|Deficiency of guanidinoacetate methyltransferase [RCV001827392]uncertain significance1914014311401431Human2name , alternate_id
28906345CV880011single nucleotide variantNM_000156.6(GAMT):c.372G>A (p.Leu124=)Cerebral creatine deficiency syndrome [RCV001459474]|Deficiency of guanidinoacetate methyltransferase [RCV001127000]likely benign|uncertain significance1913995431399543Human2name , alternate_id
38457186CV938604single nucleotide variantNM_000156.6(GAMT):c.41A>G (p.Glu14Gly)Cerebral creatine deficiency syndrome [RCV001211051]|Deficiency of guanidinoacetate methyltransferase [RCV001828685]|Inborn genetic diseases [RCV002561749]uncertain significance1914014361401436Human3name , alternate_id
40905372CV979972single nucleotide variantNM_000156.6(GAMT):c.702C>T (p.Thr234=)Deficiency of guanidinoacetate methyltransferase [RCV001278557]uncertain significance1913973681397368Human1name , alternate_id
126742504CV1034140single nucleotide variantNM_000156.6(GAMT):c.232G>A (p.Val78Met)Cerebral creatine deficiency syndrome [RCV001351021]uncertain significance1913998881399888Human1name
126909390CV1051139single nucleotide variantNM_000156.6(GAMT):c.154G>A (p.Ala52Thr)Cerebral creatine deficiency syndrome [RCV001368464]|not provided [RCV001532365]uncertain significance1914013231401323Human1name
126914521CV1051140single nucleotide variantNM_000156.6(GAMT):c.115A>C (p.Lys39Gln)Cerebral creatine deficiency syndrome [RCV001359569]uncertain significance1914013621401362Human1name
127255229CV1056544deletionNM_000156.6(GAMT):c.526del (p.Glu176fs)Cerebral creatine deficiency syndrome [RCV001379333]|Deficiency of guanidinoacetate methyltransferase [RCV003298627]pathogenic|likely pathogenic1913989601398960Human2name , alternate_id
127239398CV1064662duplicationNM_000156.6(GAMT):c.356dup (p.Asp119fs)Cerebral creatine deficiency syndrome [RCV001383246]|Deficiency of guanidinoacetate methyltransferase [RCV003462990]pathogenic|likely pathogenic1913995581399559Human2name , alternate_id
127257550CV1064664deletionNM_000156.6(GAMT):c.307del (p.Ala103fs)Cerebral creatine deficiency syndrome [RCV001386769]|Deficiency of guanidinoacetate methyltransferase [RCV002504647]pathogenic|likely pathogenic1913998131399813Human2name , alternate_id
127268713CV1064665single nucleotide variantNM_000156.6(GAMT):c.289C>T (p.Gln97Ter)Cerebral creatine deficiency syndrome [RCV001389319]|Deficiency of guanidinoacetate methyltransferase [RCV003469756]pathogenic1913998311399831Human2name , alternate_id
127261070CV1086992single nucleotide variantNM_000156.6(GAMT):c.181G>A (p.Gly61Arg)Cerebral creatine deficiency syndrome [RCV003771338]|Deficiency of guanidinoacetate methyltransferase [RCV001420145]likely pathogenic1914012961401296Human2name , alternate_id
150549282CV1295073single nucleotide variantNM_000156.6(GAMT):c.142C>T (p.Pro48Ser)not provided [RCV001765034]uncertain significance1914013351401335Humanname
150530839CV1302765duplicationNM_000156.6(GAMT):c.609dup (p.Arg204fs)Cerebral creatine deficiency syndrome [RCV001761398]|Deficiency of guanidinoacetate methyltransferase [RCV002260948]pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance1913974601397461Human2name , alternate_id
151843421CV1363292single nucleotide variantNM_000156.6(GAMT):c.152A>T (p.His51Leu)Cerebral creatine deficiency syndrome [RCV002032095]uncertain significance1914013251401325Human1name
151807926CV1371274single nucleotide variantNM_000156.6(GAMT):c.229A>G (p.Lys77Glu)Cerebral creatine deficiency syndrome [RCV001877980]uncertain significance1913998911399891Human1name
151751982CV1412361single nucleotide variantNM_000156.6(GAMT):c.200T>A (p.Val67Glu)Cerebral creatine deficiency syndrome [RCV001927608]uncertain significance1913999201399920Human1name
151712729CV1423346single nucleotide variantNM_000156.6(GAMT):c.118C>T (p.Pro40Ser)Cerebral creatine deficiency syndrome [RCV002002298]uncertain significance1914013591401359Human1name
151760417CV1435014duplicationNM_000156.6(GAMT):c.526dup (p.Glu176fs)Cerebral creatine deficiency syndrome [RCV001913912]|Deficiency of guanidinoacetate methyltransferase [RCV003159218]pathogenic1913989591398960Human2name , alternate_id
151885976CV1441311duplicationNM_000156.6(GAMT):c.534dup (p.Lys179fs)Cerebral creatine deficiency syndrome [RCV001942067]pathogenic1913989511398952Human1name
151716823CV1470731single nucleotide variantNM_000156.6(GAMT):c.127G>C (p.Glu43Gln)Cerebral creatine deficiency syndrome [RCV001909092]uncertain significance1914013501401350Human1name
151808462CV1474805single nucleotide variantNM_000156.6(GAMT):c.179A>C (p.Lys60Thr)Cerebral creatine deficiency syndrome [RCV001932962]uncertain significance1914012981401298Human1name
151814313CV1491230deletionNM_000156.6(GAMT):c.536del (p.Lys179fs)Cerebral creatine deficiency syndrome [RCV001975085]pathogenic1913989501398950Human1name
151810540CV1497395single nucleotide variantNM_000156.6(GAMT):c.248T>C (p.Ile83Thr)Cerebral creatine deficiency syndrome [RCV001974724]uncertain significance1913998721399872Human1name
152033063CV1567947indelNM_000156.6(GAMT):c.571-7_571-6delinsTACerebral creatine deficiency syndrome [RCV002205098]likely benign1913975051397506Humanname
155267417CV1699612deletionNM_000156.6(GAMT):c.475del (p.Leu159fs)Cerebral creatine deficiency syndrome [RCV003586325]|Deficiency of guanidinoacetate methyltransferase [RCV002283405]pathogenic|likely pathogenic1913990111399011Human2name , alternate_id
155740856CV1777054single nucleotide variantNM_000156.6(GAMT):c.261G>C (p.Trp87Cys)Cerebral creatine deficiency syndrome [RCV002302375]uncertain significance1913998591399859Human1name
156058090CV1867866single nucleotide variantNM_000156.6(GAMT):c.119C>G (p.Pro40Arg)Cerebral creatine deficiency syndrome [RCV003037159]|not provided [RCV004700907]uncertain significance1914013581401358Human1name
156381354CV1868337single nucleotide variantNM_000156.6(GAMT):c.152A>C (p.His51Pro)Cerebral creatine deficiency syndrome [RCV003050512]|Deficiency of guanidinoacetate methyltransferase [RCV003334076]likely pathogenic|uncertain significance1914013251401325Human2name , alternate_id
156056999CV1879684single nucleotide variantNM_000156.6(GAMT):c.112G>A (p.Gly38Ser)Cerebral creatine deficiency syndrome [RCV003053201]uncertain significance1914013651401365Human1name
156246320CV1890407single nucleotide variantNM_000156.6(GAMT):c.221C>T (p.Ala74Val)Cerebral creatine deficiency syndrome [RCV003085938]uncertain significance1913998991399899Human1name
156122513CV1892655single nucleotide variantNM_000156.6(GAMT):c.199G>A (p.Val67Met)Cerebral creatine deficiency syndrome [RCV003081501]uncertain significance1913999211399921Human1name
10050613CV192184single nucleotide variantNM_000156.6(GAMT):c.227C>T (p.Ser76Leu)Cerebral creatine deficiency syndrome [RCV000470154]|Deficiency of guanidinoacetate methyltransferase [RCV000764185]|Inborn genetic diseases [RCV002317012]|not provided [RCV000420649]uncertain significance1913998931399893Human3name , alternate_id
156442062CV1941730single nucleotide variantNM_000156.6(GAMT):c.134G>A (p.Trp45Ter)Cerebral creatine deficiency syndrome [RCV003112399]|Deficiency of guanidinoacetate methyltransferase [RCV003459777]|GAMT-related disorder [RCV003919013]pathogenic1914013431401343Human2name , trait , alternate_id
156440332CV1946697single nucleotide variantNM_000156.6(GAMT):c.155C>G (p.Ala52Gly)Cerebral creatine deficiency syndrome [RCV003110364]uncertain significance1914013221401322Human1name
156090840CV2016354single nucleotide variantNM_000156.6(GAMT):c.278A>T (p.Asp93Val)Cerebral creatine deficiency syndrome [RCV002706305]uncertain significance1913998421399842Human1name
10397552CV203545single nucleotide variantNM_000156.6(GAMT):c.291G>T (p.Gln97His)Cerebral creatine deficiency syndrome [RCV002517860]|Deficiency of guanidinoacetate methyltransferase [RCV001827998]|Inborn genetic diseases [RCV004020268]|not provided [RCV000187562]uncertain significance1913998291399829Human3name , alternate_id
10397551CV203547single nucleotide variantNM_000156.6(GAMT):c.248T>A (p.Ile83Asn)not provided [RCV000187561]uncertain significance1913998721399872Humanname
10396028CV203548single nucleotide variantNM_000156.6(GAMT):c.242C>T (p.Ala81Val)Cerebral creatine deficiency syndrome [RCV001088002]|Deficiency of guanidinoacetate methyltransferase [RCV001127003]|Inborn genetic diseases [RCV002453689]|not provided [RCV000187560]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance1913998781399878Human3name , alternate_id
10397560CV203551single nucleotide variantNM_000156.6(GAMT):c.128A>G (p.Glu43Gly)not provided [RCV000187587]uncertain significance1914013491401349Humanname
10396044CV203552single nucleotide variantNM_000156.6(GAMT):c.124A>G (p.Met42Val)Cerebral creatine deficiency syndrome [RCV002517863]|Deficiency of guanidinoacetate methyltransferase [RCV001833119]|not provided [RCV000187586]uncertain significance1914013531401353Human2name , alternate_id
156110315CV2038736single nucleotide variantNM_000156.6(GAMT):c.230A>G (p.Lys77Arg)Cerebral creatine deficiency syndrome [RCV002761666]uncertain significance1913998901399890Human1name
156137713CV2040587single nucleotide variantNM_000156.6(GAMT):c.166G>A (p.Ala56Thr)Cerebral creatine deficiency syndrome [RCV002786407]uncertain significance1914013111401311Human1name
155979900CV2073307single nucleotide variantNM_000156.6(GAMT):c.219C>G (p.Ile73Met)Cerebral creatine deficiency syndrome [RCV002842465]uncertain significance1913999011399901Human1name
10404146CV208559single nucleotide variantNM_000156.6(GAMT):c.217A>G (p.Ile73Val)Cerebral creatine deficiency syndrome [RCV002517938]|Inborn genetic diseases [RCV002426922]|not specified [RCV000194321]uncertain significance1913999031399903Human2name
155997872CV2106577single nucleotide variantNM_000156.6(GAMT):c.131G>A (p.Arg44His)Cerebral creatine deficiency syndrome [RCV002947644]uncertain significance1914013461401346Human1name
155948772CV2132932deletionNM_000156.6(GAMT):c.370del (p.Leu124fs)Cerebral creatine deficiency syndrome [RCV002994505]pathogenic1913995451399545Human1name
156186653CV2148318single nucleotide variantNM_000156.6(GAMT):c.130C>G (p.Arg44Gly)Cerebral creatine deficiency syndrome [RCV003005873]uncertain significance1914013471401347Human1name
155984468CV2153726single nucleotide variantNM_000156.6(GAMT):c.154G>T (p.Ala52Ser)Cerebral creatine deficiency syndrome [RCV003016531]uncertain significance1914013231401323Human1name
8560431CV23344single nucleotide variantNM_000156.6(GAMT):c.148A>C (p.Met50Leu)Cerebral creatine deficiency syndrome [RCV001851745]|Deficiency of guanidinoacetate methyltransferase [RCV000008803]pathogenic|likely pathogenic|uncertain significance1914013291401329Human2name , alternate_id
329350814CV2421583single nucleotide variantNM_000156.6(GAMT):c.274A>G (p.Asn92Asp)Deficiency of guanidinoacetate methyltransferase [RCV003159287]likely pathogenic|uncertain significance1913998461399846Human1name , alternate_id
329350846CV2421584single nucleotide variantNM_000156.6(GAMT):c.160G>C (p.Ala54Pro)Deficiency of guanidinoacetate methyltransferase [RCV003159288]likely pathogenic1914013171401317Human1name , alternate_id
329350816CV2421585single nucleotide variantNM_000156.6(GAMT):c.170C>A (p.Ala57Asp)Deficiency of guanidinoacetate methyltransferase [RCV003159289]uncertain significance1914013071401307Human1name , alternate_id
329350817CV2421586single nucleotide variantNM_000156.6(GAMT):c.202G>T (p.Gly68Cys)Deficiency of guanidinoacetate methyltransferase [RCV003159290]likely pathogenic1913999181399918Human1name , alternate_id
329350818CV2421587single nucleotide variantNM_000156.6(GAMT):c.220G>C (p.Ala74Pro)Cerebral creatine deficiency syndrome [RCV003586387]|Deficiency of guanidinoacetate methyltransferase [RCV003159291]pathogenic|likely pathogenic1913999001399900Human2name , alternate_id
11350362CV243311single nucleotide variantNM_000156.6(GAMT):c.211A>G (p.Met71Val)Cerebral creatine deficiency syndrome [RCV000234406]|Deficiency of guanidinoacetate methyltransferase [RCV001272273]|Inborn genetic diseases [RCV002518308]|not provided [RCV003441807]uncertain significance1913999091399909Human3name , alternate_id
329846813CV2523942deletionNM_000156.6(GAMT):c.11_12del (p.Pro4fs)Deficiency of guanidinoacetate methyltransferase [RCV003226645]likely pathogenic1914014651401466Human1name , alternate_id
401722267CV2735597duplicationNM_000156.6(GAMT):c.595dup (p.Glu199fs)Deficiency of guanidinoacetate methyltransferase [RCV003307398]likely pathogenic1913974741397475Human1name , alternate_id
401941313CV2835954single nucleotide variantNM_000156.6(GAMT):c.235C>T (p.Gln79Ter)Deficiency of guanidinoacetate methyltransferase [RCV003461654]pathogenic1913998851399885Human1name , alternate_id
401962025CV2844754single nucleotide variantNM_000156.6(GAMT):c.115A>G (p.Lys39Glu)Deficiency of guanidinoacetate methyltransferase [RCV003482173]likely pathogenic1914013621401362Human1name , alternate_id
401962027CV2844755single nucleotide variantNM_000156.6(GAMT):c.233T>A (p.Val78Glu)Cerebral creatine deficiency syndrome [RCV003586428]|Deficiency of guanidinoacetate methyltransferase [RCV003482174]likely pathogenic1913998871399887Human2name , alternate_id
11664791CV332705single nucleotide variantNM_000156.6(GAMT):c.182G>A (p.Gly61Glu)Cerebral creatine deficiency syndrome [RCV000550292]|Deficiency of guanidinoacetate methyltransferase [RCV000289407]|not provided [RCV000480090]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance1913999381399938Human2name , alternate_id
11664814CV348222single nucleotide variantNM_000156.6(GAMT):c.140C>T (p.Thr47Ile)Deficiency of guanidinoacetate methyltransferase [RCV000344221]uncertain significance1914013371401337Human1name , alternate_id
11664835CV348225single nucleotide variantNM_000156.6(GAMT):c.133T>A (p.Trp45Arg)Cerebral creatine deficiency syndrome [RCV001224201]|Deficiency of guanidinoacetate methyltransferase [RCV000389374]|Inborn genetic diseases [RCV004984825]pathogenic|likely pathogenic1914013441401344Human3name , alternate_id
407503313CV3495797single nucleotide variantNM_000156.6(GAMT):c.138G>C (p.Glu46Asp)not provided [RCV004697637]likely pathogenic1914013391401339Humanname
596944856CV3543529single nucleotide variantNM_000156.6(GAMT):c.224C>A (p.Ala75Glu)not provided [RCV004801651]likely pathogenic1913998961399896Humanname
597647010CV3712817deletionNM_000156.6(GAMT):c.618del (p.Asn206fs)Deficiency of guanidinoacetate methyltransferase [RCV005026387]likely pathogenic1913974521397452Human1name , alternate_id
597647018CV3712818deletionNM_000156.6(GAMT):c.569del (p.Glu190fs)Deficiency of guanidinoacetate methyltransferase [RCV005026388]likely pathogenic1913989171398917Human1name , alternate_id
597647030CV3712820duplicationNM_000156.6(GAMT):c.485dup (p.Val165fs)Deficiency of guanidinoacetate methyltransferase [RCV005026390]likely pathogenic1913990001399001Human1name , alternate_id
597891920CV3763070single nucleotide variantNM_000156.6(GAMT):c.188G>A (p.Arg63Gln)Cerebral creatine deficiency syndrome [RCV005110843]uncertain significance1913999321399932Human1name
598129357CV3888653single nucleotide variantNM_000156.6(GAMT):c.295C>A (p.Leu99Ile)not provided [RCV005244827]uncertain significance1913998251399825Humanname
598219448CV3895660duplicationNM_000156.6(GAMT):c.471dup (p.Arg158fs)Deficiency of guanidinoacetate methyltransferase [RCV005360500]likely pathogenic1913990141399015Human1name , alternate_id
12906465CV415637single nucleotide variantNM_000156.6(GAMT):c.295C>T (p.Leu99Phe)Cerebral creatine deficiency syndrome [RCV001856897]|not provided [RCV000489257]uncertain significance1913998251399825Human1name
12913691CV422249single nucleotide variantNM_000156.6(GAMT):c.151C>G (p.His51Asp)Cerebral creatine deficiency syndrome [RCV001298661]|not provided [RCV000494131]uncertain significance1914013261401326Human1name
13211751CV426291single nucleotide variantNM_000156.6(GAMT):c.292C>T (p.Arg98Trp)Cerebral creatine deficiency syndrome [RCV001244364]|Deficiency of guanidinoacetate methyltransferase [RCV001275206]|Inborn genetic diseases [RCV002318602]|not provided [RCV000514101]uncertain significance1913998281399828Human3name , alternate_id
13476945CV446065single nucleotide variantNM_000156.6(GAMT):c.293G>A (p.Arg98Gln)Cerebral creatine deficiency syndrome [RCV001857977]|Deficiency of guanidinoacetate methyltransferase [RCV001834693]|not provided [RCV000520268]uncertain significance1913998271399827Human2name , alternate_id
13518016CV488043duplicationNM_000156.6(GAMT):c.491dup (p.Val165fs)Cerebral creatine deficiency syndrome [RCV001382861]|Deficiency of guanidinoacetate methyltransferase [RCV000587091]|Inborn genetic diseases [RCV004984989]pathogenic|likely pathogenic1913989941398995Human3name , alternate_id
13626792CV532750single nucleotide variantNM_000156.6(GAMT):c.167C>T (p.Ala56Val)Cerebral creatine deficiency syndrome [RCV000655361]|Deficiency of guanidinoacetate methyltransferase [RCV002060782]|Inborn genetic diseases [RCV004972834]uncertain significance1914013101401310Human3name , alternate_id
13626788CV532762single nucleotide variantNM_000156.6(GAMT):c.224C>T (p.Ala75Val)Cerebral creatine deficiency syndrome [RCV000655356]|Deficiency of guanidinoacetate methyltransferase [RCV001835900]pathogenic|conflicting interpretations of pathogenicity|uncertain significance1913998961399896Human2name , alternate_id
13805842CV570570single nucleotide variantNM_000156.6(GAMT):c.150G>A (p.Met50Ile)Cerebral creatine deficiency syndrome [RCV000685923]|not provided [RCV001815371]uncertain significance1914013271401327Human1name
13813054CV570573single nucleotide variantNM_000156.6(GAMT):c.119C>T (p.Pro40Leu)Cerebral creatine deficiency syndrome [RCV000689882]uncertain significance1914013581401358Human1name
13812292CV572283single nucleotide variantNM_000156.6(GAMT):c.179A>G (p.Lys60Arg)Cerebral creatine deficiency syndrome [RCV000689355]|Deficiency of guanidinoacetate methyltransferase [RCV001830498]uncertain significance1914012981401298Human2name , alternate_id
13830473CV580545single nucleotide variantNM_000156.6(GAMT):c.122T>C (p.Val41Ala)Cerebral creatine deficiency syndrome [RCV001862077]|Inborn genetic diseases [RCV002317591]uncertain significance1914013551401355Human2name
14708764CV647779single nucleotide variantNM_000156.6(GAMT):c.288C>G (p.Phe96Leu)Cerebral creatine deficiency syndrome [RCV000809163]uncertain significance1913998321399832Human1name
14701757CV647781single nucleotide variantNM_000156.6(GAMT):c.220G>A (p.Ala74Thr)Cerebral creatine deficiency syndrome [RCV000806501]|Deficiency of guanidinoacetate methyltransferase [RCV001830754]uncertain significance1913999001399900Human2name , alternate_id
14724188CV647783single nucleotide variantNM_000156.6(GAMT):c.131G>C (p.Arg44Pro)Cerebral creatine deficiency syndrome [RCV000814680]uncertain significance1914013461401346Human1name
26888648CV798921deletionNM_000156.6(GAMT):c.491del (p.Gly164fs)Cerebral creatine deficiency syndrome [RCV001766818]|Deficiency of guanidinoacetate methyltransferase [RCV001030778]|not provided [RCV002255172]pathogenic1913989951398995Human2name , alternate_id
26920413CV847391deletionNM_000156.6(GAMT):c.301del (p.Asp101fs)Cerebral creatine deficiency syndrome [RCV001059955]|Deficiency of guanidinoacetate methyltransferase [RCV003467804]pathogenic|likely pathogenic1913998191399819Human2name , alternate_id
26912635CV847392single nucleotide variantNM_000156.6(GAMT):c.261G>A (p.Trp87Ter)Cerebral creatine deficiency syndrome [RCV001053709]|Deficiency of guanidinoacetate methyltransferase [RCV003159176]pathogenic|likely pathogenic|conflicting interpretations of pathogenicity1913998591399859Human2name , alternate_id
26900248CV847393single nucleotide variantNM_000156.6(GAMT):c.226T>C (p.Ser76Pro)Cerebral creatine deficiency syndrome [RCV001071213]uncertain significance1913998941399894Human1name
26904072CV847395single nucleotide variantNM_000156.6(GAMT):c.170C>T (p.Ala57Val)Cerebral creatine deficiency syndrome [RCV001036364]uncertain significance1914013071401307Human1name
34890573CV904321single nucleotide variantNM_000156.6(GAMT):c.268G>A (p.Glu90Lys)Cerebral creatine deficiency syndrome [RCV001325103]|Deficiency of guanidinoacetate methyltransferase [RCV003159182]|Inborn genetic diseases [RCV002558719]|not provided [RCV001171628]|not specified [RCV002307689]pathogenic|likely pathogenic|uncertain significance1913998521399852Human3name , alternate_id
38490100CV938602single nucleotide variantNM_000156.6(GAMT):c.218T>C (p.Ile73Thr)Cerebral creatine deficiency syndrome [RCV001210500]uncertain significance1913999021399902Human1name
38492576CV958561single nucleotide variantNM_000156.6(GAMT):c.283G>A (p.Val95Ile)Cerebral creatine deficiency syndrome [RCV001240165]|Deficiency of guanidinoacetate methyltransferase [RCV001828947]uncertain significance1913998371399837Human2name , alternate_id
38491974CV958562single nucleotide variantNM_000156.6(GAMT):c.280G>A (p.Gly94Ser)Cerebral creatine deficiency syndrome [RCV001239812]|Deficiency of guanidinoacetate methyltransferase [RCV001828940]|Inborn genetic diseases [RCV004034627]uncertain significance1913998401399840Human3name , alternate_id
38494181CV958563single nucleotide variantNM_000156.6(GAMT):c.106A>G (p.Ile36Val)Cerebral creatine deficiency syndrome [RCV001241167]|Deficiency of guanidinoacetate methyltransferase [RCV001836209]uncertain significance1914013711401371Human2name , alternate_id
40815153CV971120duplicationNM_000156.6(GAMT):c.442dup (p.Gln148fs)Cerebral creatine deficiency syndrome [RCV003746586]|Deficiency of guanidinoacetate methyltransferase [RCV001262463]pathogenic1913991441399145Human2name , alternate_id
126753620CV998429single nucleotide variantNM_000156.6(GAMT):c.250G>C (p.Asp84His)Cerebral creatine deficiency syndrome [RCV001297935]uncertain significance1913998701399870Human1name
126738510CV998430single nucleotide variantNM_000156.6(GAMT):c.187C>T (p.Arg63Trp)Cerebral creatine deficiency syndrome [RCV001295492]|Deficiency of guanidinoacetate methyltransferase [RCV001830125]|Inborn genetic diseases [RCV004035647]uncertain significance1913999331399933Human3name , alternate_id
126770237CV1013574single nucleotide variantNM_000156.6(GAMT):c.650C>A (p.Pro217Gln)Cerebral creatine deficiency syndrome [RCV001322446]|Deficiency of guanidinoacetate methyltransferase [RCV001830346]uncertain significance1913974201397420Human2name , alternate_id
126770878CV1013575single nucleotide variantNM_000156.6(GAMT):c.493G>A (p.Val165Ile)Cerebral creatine deficiency syndrome [RCV001322836]|Deficiency of guanidinoacetate methyltransferase [RCV001830348]|not provided [RCV001806121]uncertain significance1913989931398993Human2name , alternate_id
126737866CV1013576single nucleotide variantNM_000156.6(GAMT):c.484C>T (p.Pro162Ser)Cerebral creatine deficiency syndrome [RCV001314037]|Inborn genetic diseases [RCV004978297]uncertain significance1913990021399002Human2name
126766733CV1013577single nucleotide variantNM_000156.6(GAMT):c.463C>G (p.His155Asp)Cerebral creatine deficiency syndrome [RCV001320563]|Deficiency of guanidinoacetate methyltransferase [RCV001830342]uncertain significance1913990231399023Human2name , alternate_id
126772460CV1013578single nucleotide variantNM_000156.6(GAMT):c.347T>A (p.Leu116Gln)Cerebral creatine deficiency syndrome [RCV001323766]uncertain significance1913995681399568Human1name
126773714CV1034139single nucleotide variantNM_000156.6(GAMT):c.389A>C (p.Asp130Ala)Cerebral creatine deficiency syndrome [RCV001346391]uncertain significance1913995261399526Human1name
126917091CV1051138single nucleotide variantNM_000156.6(GAMT):c.563T>A (p.Met188Lys)Cerebral creatine deficiency syndrome [RCV001371880]uncertain significance1913989231398923Human1name
127289135CV1152827single nucleotide variantNM_000156.6(GAMT):c.649C>T (p.Pro217Ser)not provided [RCV001509008]uncertain significance1913974211397421Humanname
150532623CV1293578single nucleotide variantNM_000156.6(GAMT):c.518C>T (p.Ser173Phe)not provided [RCV001757855]uncertain significance1913989681398968Humanname
150545858CV1296956single nucleotide variantNM_000156.6(GAMT):c.320C>T (p.Thr107Ile)not provided [RCV001763247]uncertain significance1913998001399800Humanname
150542742CV1302690single nucleotide variantNM_000156.6(GAMT):c.350G>C (p.Trp117Ser)not provided [RCV001761380]uncertain significance1913995651399565Humanname
150530840CV1302767single nucleotide variantNM_000156.6(GAMT):c.497T>C (p.Leu166Pro)Cerebral creatine deficiency syndrome [RCV001761400]|Deficiency of guanidinoacetate methyltransferase [RCV003298978]likely pathogenic1913989891398989Human2name , alternate_id
150530841CV1302768single nucleotide variantNM_000156.6(GAMT):c.491G>T (p.Gly164Val)Cerebral creatine deficiency syndrome [RCV001761401]uncertain significance1913989951398995Human1name
151233413CV1317077single nucleotide variantNM_000156.6(GAMT):c.551A>G (p.Asp184Gly)not provided [RCV001786898]uncertain significance1913989351398935Humanname
151236210CV1319665single nucleotide variantNM_000156.6(GAMT):c.578A>G (p.Gln193Arg)Deficiency of guanidinoacetate methyltransferase [RCV002489844]|not specified [RCV001797869]uncertain significance1913974921397492Human1name , alternate_id
151353260CV1326289single nucleotide variantNM_000156.6(GAMT):c.476T>C (p.Leu159Pro)Deficiency of guanidinoacetate methyltransferase [RCV003159214]|not provided [RCV001816225]pathogenic|likely pathogenic1913990101399010Human1name , alternate_id
151848145CV1352962single nucleotide variantNM_000156.6(GAMT):c.346C>A (p.Leu116Met)Cerebral creatine deficiency syndrome [RCV001922404]uncertain significance1913995691399569Human1name
151725157CV1356489single nucleotide variantNM_000156.6(GAMT):c.661C>T (p.Arg221Cys)Cerebral creatine deficiency syndrome [RCV001910240]|not provided [RCV004797968]uncertain significance1913974091397409Human1name
151864014CV1374549single nucleotide variantNM_000156.6(GAMT):c.435C>G (p.His145Gln)Cerebral creatine deficiency syndrome [RCV001884313]uncertain significance1913991521399152Human1name
151806815CV1382193single nucleotide variantNM_000156.6(GAMT):c.622C>A (p.Arg208Ser)Cerebral creatine deficiency syndrome [RCV002028597]uncertain significance1913974481397448Human1name
151737888CV1389919single nucleotide variantNM_000156.6(GAMT):c.432G>A (p.Trp144Ter)Cerebral creatine deficiency syndrome [RCV001892971]|Deficiency of guanidinoacetate methyltransferase [RCV004596490]pathogenic1913991551399155Human2name , alternate_id
151712110CV1396846single nucleotide variantNM_000156.6(GAMT):c.385T>G (p.Phe129Val)Cerebral creatine deficiency syndrome [RCV001889601]uncertain significance1913995301399530Human1name
151892006CV1399594single nucleotide variantNM_000156.6(GAMT):c.520T>C (p.Trp174Arg)Cerebral creatine deficiency syndrome [RCV001943659]|Deficiency of guanidinoacetate methyltransferase [RCV003482165]likely pathogenic|uncertain significance1913989661398966Human2name , alternate_id
151739787CV1412828single nucleotide variantNM_000156.6(GAMT):c.504C>G (p.Tyr168Ter)Cerebral creatine deficiency syndrome [RCV001926354]pathogenic1913989821398982Human1name
151750446CV1415664single nucleotide variantNM_000156.6(GAMT):c.669C>G (p.Tyr223Ter)Cerebral creatine deficiency syndrome [RCV001927470]uncertain significance1913974011397401Human1name
151870044CV1416851single nucleotide variantNM_000156.6(GAMT):c.428C>T (p.Thr143Ile)Cerebral creatine deficiency syndrome [RCV001998211]uncertain significance1913991591399159Human1name
151715985CV1434926single nucleotide variantNM_000156.6(GAMT):c.402C>A (p.Tyr134Ter)Cerebral creatine deficiency syndrome [RCV001890336]|Deficiency of guanidinoacetate methyltransferase [RCV003470992]pathogenic|likely pathogenic1913991851399185Human2name , alternate_id
151855919CV1448906single nucleotide variantNM_000156.6(GAMT):c.631G>C (p.Val211Leu)Cerebral creatine deficiency syndrome [RCV001979520]uncertain significance1913974391397439Human1name
151804267CV1456911single nucleotide variantNM_000156.6(GAMT):c.305G>A (p.Trp102Ter)Cerebral creatine deficiency syndrome [RCV001877652]pathogenic1913998151399815Human1name
151890943CV1473172single nucleotide variantNM_000156.6(GAMT):c.602G>A (p.Gly201Asp)Cerebral creatine deficiency syndrome [RCV001888547]uncertain significance1913974681397468Human1name
151884305CV1476889single nucleotide variantNM_000156.6(GAMT):c.697G>A (p.Val233Met)Cerebral creatine deficiency syndrome [RCV001887122]uncertain significance1913973731397373Human1name
151888548CV1481466single nucleotide variantNM_000156.6(GAMT):c.350G>A (p.Trp117Ter)Cerebral creatine deficiency syndrome [RCV001963237]|Deficiency of guanidinoacetate methyltransferase [RCV003464328]pathogenic|likely pathogenic1913995651399565Human2name , alternate_id
151869020CV1497520single nucleotide variantNM_000156.6(GAMT):c.636G>A (p.Met212Ile)Cerebral creatine deficiency syndrome [RCV001960187]uncertain significance1913974341397434Human1name
151742203CV1507351single nucleotide variantNM_000156.6(GAMT):c.593T>C (p.Leu198Pro)Cerebral creatine deficiency syndrome [RCV001968251]uncertain significance1913974771397477Human1name
151714919CV1510553single nucleotide variantNM_000156.6(GAMT):c.344G>A (p.Gly115Asp)Cerebral creatine deficiency syndrome [RCV001965039]|Inborn genetic diseases [RCV002562130]uncertain significance1913995711399571Human2name
151873826CV1511348single nucleotide variantNM_000156.6(GAMT):c.358G>A (p.Val120Met)Cerebral creatine deficiency syndrome [RCV001960789]uncertain significance1913995571399557Human1name
151716289CV1513039single nucleotide variantNM_000156.6(GAMT):c.670G>C (p.Ala224Pro)Cerebral creatine deficiency syndrome [RCV001890383]|Inborn genetic diseases [RCV004041268]uncertain significance1913974001397400Human2name
151729097CV1515265single nucleotide variantNM_000156.6(GAMT):c.584C>T (p.Pro195Leu)Cerebral creatine deficiency syndrome [RCV002041010]uncertain significance1913974861397486Human1name
155703950CV1798034single nucleotide variantNM_000156.6(GAMT):c.442C>T (p.Gln148Ter)Inborn genetic diseases [RCV002333951]pathogenic1913991451399145Human1name
155688029CV1803769single nucleotide variantNM_000156.6(GAMT):c.593T>G (p.Leu198Arg)Cerebral creatine deficiency syndrome [RCV003103250]|Inborn genetic diseases [RCV002355923]uncertain significance1913974771397477Human2name
155725599CV1804832single nucleotide variantNM_000156.6(GAMT):c.657C>A (p.Asp219Glu)Cerebral creatine deficiency syndrome [RCV003098294]|Inborn genetic diseases [RCV002364485]uncertain significance1913974131397413Human2name
155734952CV1809712single nucleotide variantNM_000156.6(GAMT):c.522G>T (p.Trp174Cys)Inborn genetic diseases [RCV002340852]|not provided [RCV003418468]uncertain significance1913989641398964Human1name
155674242CV1811377single nucleotide variantNM_000156.6(GAMT):c.635T>A (p.Met212Lys)Cerebral creatine deficiency syndrome [RCV003098216]|Inborn genetic diseases [RCV002369027]uncertain significance1913974351397435Human2name
156407645CV1868757single nucleotide variantNM_000156.6(GAMT):c.563T>C (p.Met188Thr)Cerebral creatine deficiency syndrome [RCV003070952]uncertain significance1913989231398923Human1name
156408519CV1870110single nucleotide variantNM_000156.6(GAMT):c.623G>T (p.Arg208Leu)Cerebral creatine deficiency syndrome [RCV003071301]uncertain significance1913974471397447Human1name
156209968CV1871382single nucleotide variantNM_000156.6(GAMT):c.705A>T (p.Lys235Asn)Cerebral creatine deficiency syndrome [RCV003058489]|Deficiency of guanidinoacetate methyltransferase [RCV004823090]|Inborn genetic diseases [RCV004070147]likely benign|uncertain significance1913973651397365Human3name , alternate_id
156403551CV1871781single nucleotide variantNM_000156.6(GAMT):c.610A>G (p.Arg204Gly)Cerebral creatine deficiency syndrome [RCV003052625]|Inborn genetic diseases [RCV004632159]uncertain significance1913974601397460Human2name
156354672CV1880130single nucleotide variantNM_000156.6(GAMT):c.299G>A (p.Arg100Gln)Cerebral creatine deficiency syndrome [RCV003065136]|Deficiency of guanidinoacetate methyltransferase [RCV004823093]|Inborn genetic diseases [RCV003274188]likely benign|uncertain significance1913998211399821Human3name , alternate_id
156442672CV1948775single nucleotide variantNM_000156.6(GAMT):c.522G>C (p.Trp174Cys)Cerebral creatine deficiency syndrome [RCV003113020]|Deficiency of guanidinoacetate methyltransferase [RCV003482169]|Inborn genetic diseases [RCV004978762]uncertain significance1913989641398964Human3name , alternate_id
10396042CV203522single nucleotide variantNM_000156.6(GAMT):c.707G>C (p.Gly236Ala)Cerebral creatine deficiency syndrome [RCV000464619]|Deficiency of guanidinoacetate methyltransferase [RCV001123244]|Inborn genetic diseases [RCV002317100]|not provided [RCV000711736]conflicting interpretations of pathogenicity|uncertain significance1913973631397363Human3name , alternate_id
10396041CV203523single nucleotide variantNM_000156.6(GAMT):c.689C>T (p.Thr230Met)Cerebral creatine deficiency syndrome [RCV000814698]|Deficiency of guanidinoacetate methyltransferase [RCV001833117]|not provided [RCV000187580]uncertain significance1913973811397381Human2name , alternate_id
10397556CV203524single nucleotide variantNM_000156.6(GAMT):c.677C>T (p.Pro226Leu)Deficiency of guanidinoacetate methyltransferase [RCV002305457]|not provided [RCV000187579]uncertain significance1913973931397393Human1name , alternate_id
10396040CV203525single nucleotide variantNM_000156.6(GAMT):c.670G>A (p.Ala224Thr)Cerebral creatine deficiency syndrome [RCV000529306]|Deficiency of guanidinoacetate methyltransferase [RCV001123245]|Inborn genetic diseases [RCV002362982]|not provided [RCV000732178]likely benign|conflicting interpretations of pathogenicity|uncertain significance1913974001397400Human3name , alternate_id
10396023CV203526single nucleotide variantNM_000156.6(GAMT):c.655G>A (p.Asp219Asn)Cerebral creatine deficiency syndrome [RCV000655358]|Deficiency of guanidinoacetate methyltransferase [RCV001275200]|Inborn genetic diseases [RCV002311267]|not provided [RCV001704992]likely benign|uncertain significance1913974151397415Human3name , alternate_id
10396039CV203527single nucleotide variantNM_000156.6(GAMT):c.650C>T (p.Pro217Leu)Cerebral creatine deficiency syndrome [RCV000553174]|Deficiency of guanidinoacetate methyltransferase [RCV001833116]|not provided [RCV000725402]uncertain significance1913974201397420Human2name , alternate_id
10396038CV203528single nucleotide variantNM_000156.6(GAMT):c.608G>A (p.Arg203Gln)Cerebral creatine deficiency syndrome [RCV000812302]|Deficiency of guanidinoacetate methyltransferase [RCV001828000]|not provided [RCV000187575]uncertain significance1913974621397462Human2name , alternate_id
10396037CV203529single nucleotide variantNM_000156.6(GAMT):c.601G>A (p.Gly201Ser)Cerebral creatine deficiency syndrome [RCV000697521]|Deficiency of guanidinoacetate methyltransferase [RCV001124345]|not provided [RCV000187574]uncertain significance1913974691397469Human2name , alternate_id
10396036CV203531single nucleotide variantNM_000156.6(GAMT):c.587C>T (p.Ala196Val)Cerebral creatine deficiency syndrome [RCV000793466]|Deficiency of guanidinoacetate methyltransferase [RCV005252037]|Inborn genetic diseases [RCV002354525]|not provided [RCV001704993]likely benign|conflicting interpretations of pathogenicity|uncertain significance1913974831397483Human3name , alternate_id
10396046CV203532single nucleotide variantNM_000156.6(GAMT):c.581T>C (p.Val194Ala)Cerebral creatine deficiency syndrome [RCV001082409]|Deficiency of guanidinoacetate methyltransferase [RCV001124346]|GAMT-related disorder [RCV003967474]|Inborn genetic diseases [RCV002317102]|not provided [RCV000711735]|not specified [RCV000187591]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance1913974891397489Human3name , trait , alternate_id
10396032CV203533single nucleotide variantNM_000156.6(GAMT):c.575C>T (p.Thr192Met)Cerebral creatine deficiency syndrome [RCV000807491]|Deficiency of guanidinoacetate methyltransferase [RCV001124347]|Inborn genetic diseases [RCV002314717]|not provided [RCV000711734]likely benign|uncertain significance1913974951397495Human3name , alternate_id
10397554CV203534single nucleotide variantNM_000156.6(GAMT):c.527A>C (p.Glu176Ala)not provided [RCV000187572]uncertain significance1913989591398959Humanname
10397553CV203535single nucleotide variantNM_000156.6(GAMT):c.526G>T (p.Glu176Ter)Cerebral creatine deficiency syndrome [RCV001378842]|Deficiency of guanidinoacetate methyltransferase [RCV001833115]|not provided [RCV000187571]pathogenic|likely pathogenic1913989601398960Human2name , alternate_id
10396035CV203536single nucleotide variantNM_000156.6(GAMT):c.523G>C (p.Gly175Arg)not provided [RCV000187570]uncertain significance1913989631398963Humanname
10396034CV203537single nucleotide variantNM_000156.6(GAMT):c.522G>A (p.Trp174Ter)Cerebral creatine deficiency syndrome [RCV000539751]|Deficiency of guanidinoacetate methyltransferase [RCV000316896]|GAMT-related disorder [RCV003907657]|not provided [RCV000187569]pathogenic1913989641398964Human2name , trait , alternate_id
10396033CV203538single nucleotide variantNM_000156.6(GAMT):c.511C>G (p.Leu171Val)Cerebral creatine deficiency syndrome [RCV002516991]|Deficiency of guanidinoacetate methyltransferase [RCV001827999]|not provided [RCV000187568]uncertain significance1913989751398975Human2name , alternate_id
10396031CV203539single nucleotide variantNM_000156.6(GAMT):c.491G>A (p.Gly164Asp)Cerebral creatine deficiency syndrome [RCV001300727]|Deficiency of guanidinoacetate methyltransferase [RCV002305456]|Inborn genetic diseases [RCV002345673]|not provided [RCV000187566]|not specified [RCV001731508]pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance1913989951398995Human3name , alternate_id
10396021CV203540single nucleotide variantNM_000156.6(GAMT):c.379G>A (p.Gly127Ser)Cerebral creatine deficiency syndrome [RCV001248221]|Deficiency of guanidinoacetate methyltransferase [RCV001272272]|not provided [RCV001704991]|not specified [RCV000187550]likely benign|conflicting interpretations of pathogenicity|uncertain significance1913995361399536Human2name , alternate_id
10396020CV203541single nucleotide variantNM_000156.6(GAMT):c.331A>C (p.Ile111Leu)Cerebral creatine deficiency syndrome [RCV003586163]|Deficiency of guanidinoacetate methyltransferase [RCV004821997]|not provided [RCV000187549]likely benign|uncertain significance1913995841399584Human2name , alternate_id
10396030CV203542single nucleotide variantNM_000156.6(GAMT):c.328G>T (p.Val110Phe)Cerebral creatine deficiency syndrome [RCV002517861]|Deficiency of guanidinoacetate methyltransferase [RCV002305455]|not provided [RCV000187565]likely pathogenic|uncertain significance1913995871399587Human2name , alternate_id
10396029CV203544single nucleotide variantNM_000156.6(GAMT):c.298C>T (p.Arg100Trp)Cerebral creatine deficiency syndrome [RCV001085182]|Deficiency of guanidinoacetate methyltransferase [RCV001275205]|Inborn genetic diseases [RCV002433841]|not provided [RCV000187563]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance1913998221399822Human3name , alternate_id
156217952CV2035531single nucleotide variantNM_000156.6(GAMT):c.304T>C (p.Trp102Arg)Cerebral creatine deficiency syndrome [RCV002766877]uncertain significance1913998161399816Human1name
156031386CV2036939single nucleotide variantNM_000156.6(GAMT):c.577C>G (p.Gln193Glu)Cerebral creatine deficiency syndrome [RCV002781125]uncertain significance1913974931397493Human1name
155996363CV2045272single nucleotide variantNM_000156.6(GAMT):c.418T>A (p.Ser140Thr)Cerebral creatine deficiency syndrome [RCV002755982]uncertain significance1913991691399169Human1name
155996243CV2064047single nucleotide variantNM_000156.6(GAMT):c.527A>G (p.Glu176Gly)Cerebral creatine deficiency syndrome [RCV002843194]uncertain significance1913989591398959Human1name
156018343CV2114665single nucleotide variantNM_000156.6(GAMT):c.456C>G (p.Ile152Met)Cerebral creatine deficiency syndrome [RCV002909488]uncertain significance1913991311399131Human1name
156329352CV2116349single nucleotide variantNM_000156.6(GAMT):c.515C>T (p.Thr172Ile)Cerebral creatine deficiency syndrome [RCV002938277]|Deficiency of guanidinoacetate methyltransferase [RCV004763482]uncertain significance1913989711398971Human2name , alternate_id
156012151CV2122975single nucleotide variantNM_000156.6(GAMT):c.692C>T (p.Pro231Leu)Cerebral creatine deficiency syndrome [RCV002975705]uncertain significance1913973781397378Human1name
156029295CV2125372single nucleotide variantNM_000156.6(GAMT):c.449A>G (p.Asn150Ser)Cerebral creatine deficiency syndrome [RCV002949155]uncertain significance1913991381399138Human1name
156007937CV2127500single nucleotide variantNM_000156.6(GAMT):c.466G>A (p.Ala156Thr)Cerebral creatine deficiency syndrome [RCV002948105]|Inborn genetic diseases [RCV003367914]uncertain significance1913990201399020Human2name
155907923CV2144554single nucleotide variantNM_000156.6(GAMT):c.479T>G (p.Leu160Arg)Cerebral creatine deficiency syndrome [RCV003012042]uncertain significance1913990071399007Human1name
155971377CV2152620single nucleotide variantNM_000156.6(GAMT):c.617A>G (p.Asn206Ser)Cerebral creatine deficiency syndrome [RCV003015951]uncertain significance1913974531397453Human1name
156265507CV2170144single nucleotide variantNM_000156.6(GAMT):c.595G>A (p.Glu199Lys)Cerebral creatine deficiency syndrome [RCV003026804]uncertain significance1913974751397475Human1name
155930857CV2220925single nucleotide variantNM_000156.6(GAMT):c.629A>T (p.Glu210Val)Inborn genetic diseases [RCV002728738]uncertain significance1913974411397441Human1name
12907290CV227402single nucleotide variantNM_000156.6(GAMT):c.419C>A (p.Ser140Ter)Cerebral creatine deficiency syndrome [RCV001211627]|Deficiency of guanidinoacetate methyltransferase [RCV000490258]pathogenic|likely pathogenic1913991681399168Human2name , alternate_id
156302106CV2311754single nucleotide variantNM_000156.6(GAMT):c.598G>C (p.Ala200Pro)Inborn genetic diseases [RCV002898036]uncertain significance1913974721397472Human1name
8560430CV23343single nucleotide variantNM_000156.6(GAMT):c.506G>A (p.Cys169Tyr)Cerebral creatine deficiency syndrome [RCV001762039]|Deficiency of guanidinoacetate methyltransferase [RCV000008802]|not provided [RCV004700204]pathogenic|likely pathogenic1913989801398980Human2name , alternate_id
243052146CV2412542single nucleotide variantNM_000156.6(GAMT):c.339G>C (p.Leu113Phe)Deficiency of guanidinoacetate methyltransferase [RCV003130982]uncertain significance1913995761399576Human1name , alternate_id
329350819CV2421588single nucleotide variantNM_000156.6(GAMT):c.391G>C (p.Gly131Arg)Deficiency of guanidinoacetate methyltransferase [RCV003159292]likely pathogenic1913995241399524Human1name , alternate_id
329350820CV2421589single nucleotide variantNM_000156.6(GAMT):c.403G>T (p.Asp135Tyr)Deficiency of guanidinoacetate methyltransferase [RCV003159293]likely pathogenic1913991841399184Human1name , alternate_id
329350821CV2421590single nucleotide variantNM_000156.6(GAMT):c.439C>T (p.His147Tyr)Deficiency of guanidinoacetate methyltransferase [RCV003159294]|GAMT-related disorder [RCV003928960]likely pathogenic1913991481399148Human1name , trait , alternate_id
329952065CV2668800single nucleotide variantNM_000156.6(GAMT):c.577C>T (p.Gln193Ter)Deficiency of guanidinoacetate methyltransferase [RCV003230881]pathogenic1913974931397493Human1name , alternate_id
11640347CV271551single nucleotide variantNM_000156.6(GAMT):c.367A>G (p.Thr123Ala)Cerebral creatine deficiency syndrome [RCV000706359]|Deficiency of guanidinoacetate methyltransferase [RCV001833373]|Inborn genetic diseases [RCV004021220]|not provided [RCV000725990]|not specified [RCV000337338]uncertain significance1913995481399548Human3name , alternate_id
401782657CV2719924single nucleotide variantNM_000156.6(GAMT):c.427A>T (p.Thr143Ser)Inborn genetic diseases [RCV003309105]uncertain significance1913991601399160Human1name
401722261CV2735594single nucleotide variantNM_000156.6(GAMT):c.564G>T (p.Met188Ile)Deficiency of guanidinoacetate methyltransferase [RCV003307395]likely pathogenic1913989221398922Human1name , alternate_id
401722265CV2735596single nucleotide variantNM_000156.6(GAMT):c.590T>C (p.Leu197Pro)Deficiency of guanidinoacetate methyltransferase [RCV003307397]likely pathogenic1913974801397480Human1name , alternate_id
401943806CV2835955single nucleotide variantNM_000156.6(GAMT):c.411C>G (p.Tyr137Ter)Deficiency of guanidinoacetate methyltransferase [RCV003468251]likely pathogenic1913991761399176Human1name , alternate_id
401962024CV2844753single nucleotide variantNM_000156.6(GAMT):c.571G>A (p.Glu191Lys)Deficiency of guanidinoacetate methyltransferase [RCV003482172]uncertain significance1913974991397499Human1name , alternate_id
405249971CV3004335single nucleotide variantNM_000156.6(GAMT):c.306G>A (p.Trp102Ter)Cerebral creatine deficiency syndrome [RCV003747352]pathogenic1913998141399814Human1name
405281809CV3224405single nucleotide variantNM_000156.6(GAMT):c.403G>C (p.Asp135His)Deficiency of guanidinoacetate methyltransferase [RCV003988788]pathogenic1913991841399184Human1name , alternate_id
405750461CV3251122single nucleotide variantNM_000156.6(GAMT):c.553A>G (p.Ile185Val)Inborn genetic diseases [RCV004392659]uncertain significance1913989331398933Human1name
8566759CV33920single nucleotide variantNM_000156.6(GAMT):c.626C>T (p.Thr209Met)Cerebral creatine deficiency syndrome [RCV001520666]|Deficiency of guanidinoacetate methyltransferase [RCV000020144]|Inborn genetic diseases [RCV002311515]|Leigh syndrome [RCV000272863]|Mitochondrial complex I deficiency [RCV000311501]|not provided [RCV000676877]|not specified [RCV000117117]benign|likely benign|conflicting interpretations of pathogenicity1913974441397444Human5name , alternate_id
11664819CV348219single nucleotide variantNM_000156.6(GAMT):c.419C>T (p.Ser140Leu)Cerebral creatine deficiency syndrome [RCV001850747]|Deficiency of guanidinoacetate methyltransferase [RCV000353046]|Inborn genetic diseases [RCV004975457]|not provided [RCV001726120]uncertain significance1913991681399168Human3name , alternate_id
596930959CV3529801single nucleotide variantNM_000156.6(GAMT):c.306G>C (p.Trp102Cys)not provided [RCV004780851]uncertain significance1913998141399814Humanname
597631201CV3552646single nucleotide variantNM_000156.6(GAMT):c.416T>C (p.Leu139Pro)not provided [RCV004823346]uncertain significance1913991711399171Humanname
597934484CV3777058single nucleotide variantNM_000156.6(GAMT):c.421G>T (p.Glu141Ter)Cerebral creatine deficiency syndrome [RCV005117217]pathogenic1913991661399166Human1name
12848890CV379491single nucleotide variantNM_000156.6(GAMT):c.481A>T (p.Lys161Ter)Cerebral creatine deficiency syndrome [RCV001389010]|Deficiency of guanidinoacetate methyltransferase [RCV003159118]|not provided [RCV000420204]pathogenic|likely pathogenic|conflicting interpretations of pathogenicity1913990051399005Human2name , alternate_id
12841410CV379492single nucleotide variantNM_000156.6(GAMT):c.314G>A (p.Arg105Gln)Cerebral creatine deficiency syndrome [RCV000655368]|Deficiency of guanidinoacetate methyltransferase [RCV001275204]|not provided [RCV001721430]likely benign|uncertain significance1913998061399806Human2name , alternate_id
598196680CV3891187single nucleotide variantNM_000156.6(GAMT):c.623G>C (p.Arg208Pro)Deficiency of guanidinoacetate methyltransferase [RCV005252090]likely pathogenic1913974471397447Human1name , alternate_id
616934470CV4012475single nucleotide variantNM_000156.6(GAMT):c.520T>A (p.Trp174Arg)not specified [RCV005409512]uncertain significance1913989661398966Humanname
12912902CV422247single nucleotide variantNM_000156.6(GAMT):c.503A>C (p.Tyr168Ser)not provided [RCV000493155]pathogenic|likely pathogenic1913989831398983Humanname
12913365CV422248single nucleotide variantNM_000156.6(GAMT):c.410A>C (p.Tyr137Ser)Cerebral creatine deficiency syndrome [RCV001303060]|Deficiency of guanidinoacetate methyltransferase [RCV003159126]|not provided [RCV000493730]likely pathogenic|uncertain significance1913991771399177Human2name , alternate_id
13212280CV426290single nucleotide variantNM_000156.6(GAMT):c.313C>T (p.Arg105Trp)Cerebral creatine deficiency syndrome [RCV001307228]|Deficiency of guanidinoacetate methyltransferase [RCV001834603]|not specified [RCV000498594]uncertain significance1913998071399807Human2name , alternate_id
13462357CV439202duplicationNM_000156.6(GAMT):c.668dup (p.Tyr223Ter)Cerebral creatine deficiency syndrome [RCV001296499]|Deficiency of guanidinoacetate methyltransferase [RCV001272267]|not provided [RCV000514004]uncertain significance1913974011397402Human2name , alternate_id
13489548CV446062single nucleotide variantNM_000156.6(GAMT):c.607C>T (p.Arg203Trp)Cerebral creatine deficiency syndrome [RCV001851490]|Deficiency of guanidinoacetate methyltransferase [RCV001834683]|not provided [RCV000523925]uncertain significance1913974631397463Human2name , alternate_id
13479973CV446063single nucleotide variantNM_000156.6(GAMT):c.441C>A (p.His147Gln)Cerebral creatine deficiency syndrome [RCV000655370]|not provided [RCV000521099]uncertain significance1913991461399146Human1name
13475830CV446064single nucleotide variantNM_000156.6(GAMT):c.317A>C (p.Gln106Pro)Cerebral creatine deficiency syndrome [RCV001764518]|Deficiency of guanidinoacetate methyltransferase [RCV003302757]|not provided [RCV000519993]likely pathogenic|uncertain significance1913998031399803Human2name , alternate_id
13498044CV468531single nucleotide variantNM_000156.6(GAMT):c.473G>A (p.Arg158His)Cerebral creatine deficiency syndrome [RCV000527209]|Deficiency of guanidinoacetate methyltransferase [RCV001834813]uncertain significance1913990131399013Human2name , alternate_id
13466731CV470496single nucleotide variantNM_000156.6(GAMT):c.553A>C (p.Ile185Leu)Cerebral creatine deficiency syndrome [RCV000552376]|Deficiency of guanidinoacetate methyltransferase [RCV001275202]|Inborn genetic diseases [RCV004619345]uncertain significance1913989331398933Human3name , alternate_id
13537889CV506560single nucleotide variantNM_000156.6(GAMT):c.471T>G (p.Phe157Leu)Cerebral creatine deficiency syndrome [RCV000706494]|Deficiency of guanidinoacetate methyltransferase [RCV005252055]|not specified [RCV000611035]likely benign|uncertain significance1913990151399015Human2name , alternate_id
13626791CV532739single nucleotide variantNM_000156.6(GAMT):c.662G>A (p.Arg221His)Cerebral creatine deficiency syndrome [RCV000655360]|Deficiency of guanidinoacetate methyltransferase [RCV000768230]|Inborn genetic diseases [RCV002360672]|not provided [RCV004808835]uncertain significance1913974081397408Human3name , alternate_id
13626797CV532741single nucleotide variantNM_000156.6(GAMT):c.462C>G (p.Asn154Lys)Cerebral creatine deficiency syndrome [RCV000655366]|Deficiency of guanidinoacetate methyltransferase [RCV001829817]|not provided [RCV001766428]uncertain significance1913990241399024Human2name , alternate_id
13626798CV532752single nucleotide variantNM_000156.6(GAMT):c.622C>T (p.Arg208Cys)Cerebral creatine deficiency syndrome [RCV000655369]|Deficiency of guanidinoacetate methyltransferase [RCV001124344]uncertain significance1913974481397448Human2name , alternate_id
13626790CV532755single nucleotide variantNM_000156.6(GAMT):c.509A>G (p.Asn170Ser)Cerebral creatine deficiency syndrome [RCV000655359]|Deficiency of guanidinoacetate methyltransferase [RCV001272270]uncertain significance1913989771398977Human2name , alternate_id
13626789CV532812single nucleotide variantNM_000156.6(GAMT):c.701C>T (p.Thr234Ile)Cerebral creatine deficiency syndrome [RCV000655357]|Deficiency of guanidinoacetate methyltransferase [RCV002305524]uncertain significance1913973691397369Human2name , alternate_id
13626795CV532818single nucleotide variantNM_000156.6(GAMT):c.530T>G (p.Leu177Arg)Cerebral creatine deficiency syndrome [RCV000655364]uncertain significance1913989561398956Human1name
13626793CV532821single nucleotide variantNM_000156.6(GAMT):c.472C>T (p.Arg158Cys)Cerebral creatine deficiency syndrome [RCV000655362]|Deficiency of guanidinoacetate methyltransferase [RCV001835058]|not provided [RCV004692053]uncertain significance1913990141399014Human2name , alternate_id
13626794CV533179single nucleotide variantNM_000156.6(GAMT):c.407C>T (p.Thr136Met)Cerebral creatine deficiency syndrome [RCV000655363]|Deficiency of guanidinoacetate methyltransferase [RCV001253217]|not provided [RCV001566324]pathogenic|likely pathogenic|uncertain significance1913991801399180Human2name , alternate_id
13705879CV536980single nucleotide variantNM_000156.6(GAMT):c.529C>G (p.Leu177Val)not provided [RCV000658429]uncertain significance1913989571398957Humanname
13820057CV572279single nucleotide variantNM_000156.6(GAMT):c.403G>A (p.Asp135Asn)Cerebral creatine deficiency syndrome [RCV000694724]|Deficiency of guanidinoacetate methyltransferase [RCV001784322]pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance1913991841399184Human2name , alternate_id
13807036CV572281single nucleotide variantNM_000156.6(GAMT):c.316C>T (p.Gln106Ter)Abnormality of the nervous system [RCV001814217]|Cerebral creatine deficiency syndrome [RCV000686487]|Deficiency of guanidinoacetate methyltransferase [RCV001553736]|not provided [RCV000986200]pathogenic1913998041399804Human4name , alternate_id
13819632CV572965single nucleotide variantNM_000156.6(GAMT):c.562A>G (p.Met188Val)Cerebral creatine deficiency syndrome [RCV000694449]uncertain significance1913989241398924Human1name
13805754CV574895single nucleotide variantNM_000156.6(GAMT):c.623G>A (p.Arg208His)Cerebral creatine deficiency syndrome [RCV000700249]|Deficiency of guanidinoacetate methyltransferase [RCV001835926]|Inborn genetic diseases [RCV002360795]uncertain significance1913974471397447Human3name , alternate_id
13813365CV574896single nucleotide variantNM_000156.6(GAMT):c.463C>T (p.His155Tyr)Cerebral creatine deficiency syndrome [RCV000690102]uncertain significance1913990231399023Human1name
13817411CV574898single nucleotide variantNM_000156.6(GAMT):c.415C>T (p.Leu139Phe)Cerebral creatine deficiency syndrome [RCV000693034]|Deficiency of guanidinoacetate methyltransferase [RCV001830513]uncertain significance1913991721399172Human2name , alternate_id
13829709CV580540single nucleotide variantNM_000156.6(GAMT):c.464A>T (p.His155Leu)Cerebral creatine deficiency syndrome [RCV002534582]|Inborn genetic diseases [RCV002318014]uncertain significance1913990221399022Human2name
14721133CV647775single nucleotide variantNM_000156.6(GAMT):c.583C>G (p.Pro195Ala)Cerebral creatine deficiency syndrome [RCV000813351]|Deficiency of guanidinoacetate methyltransferase [RCV001272268]uncertain significance1913974871397487Human2name , alternate_id
14741802CV647776single nucleotide variantNM_000156.6(GAMT):c.509A>C (p.Asn170Thr)Cerebral creatine deficiency syndrome [RCV000822400]|Deficiency of guanidinoacetate methyltransferase [RCV001830817]uncertain significance1913989771398977Human2name , alternate_id
14740139CV647777single nucleotide variantNM_000156.6(GAMT):c.470T>G (p.Phe157Cys)Cerebral creatine deficiency syndrome [RCV000805230]|Deficiency of guanidinoacetate methyltransferase [RCV001275203]uncertain significance1913990161399016Human2name , alternate_id
14718517CV647778single nucleotide variantNM_000156.6(GAMT):c.311C>T (p.Pro104Leu)Cerebral creatine deficiency syndrome [RCV000812252]|Deficiency of guanidinoacetate methyltransferase [RCV001825626]|Inborn genetic diseases [RCV004972991]|not specified [RCV004526033]uncertain significance1913998091399809Human3name , alternate_id
21070248CV789796single nucleotide variantNM_000156.6(GAMT):c.521G>A (p.Trp174Ter)Cerebral creatine deficiency syndrome [RCV001386710]|Deficiency of guanidinoacetate methyltransferase [RCV001827125]|not provided [RCV000986197]pathogenic1913989651398965Human2name , alternate_id
21070250CV789797single nucleotide variantNM_000156.6(GAMT):c.467C>A (p.Ala156Asp)Cerebral creatine deficiency syndrome [RCV005411624]|Inborn genetic diseases [RCV004973226]|not provided [RCV000986198]|not specified [RCV002282415]uncertain significance1913990191399019Human2name
25321420CV806381single nucleotide variantNM_000156.6(GAMT):c.505T>C (p.Cys169Arg)Cerebral creatine deficiency syndrome [RCV001860605]|Deficiency of guanidinoacetate methyltransferase [RCV001009565]|not specified [RCV003490008]pathogenic|likely pathogenic|uncertain significance|not provided1913989811398981Human2name , alternate_id
26918742CV847388single nucleotide variantNM_000156.6(GAMT):c.523G>T (p.Gly175Trp)Cerebral creatine deficiency syndrome [RCV001058220]uncertain significance1913989631398963Human1name
26897003CV847390single nucleotide variantNM_000156.6(GAMT):c.356A>G (p.Asp119Gly)Cerebral creatine deficiency syndrome [RCV001070101]uncertain significance1913995591399559Human1name
26923625CV847398duplicationNM_000156.6(GAMT):c.11_36dup (p.Gly13fs)Cerebral creatine deficiency syndrome [RCV001064338]|Deficiency of guanidinoacetate methyltransferase [RCV001827416]pathogenic1914014401401441Human2name , alternate_id
38482596CV928888single nucleotide variantNM_000156.6(GAMT):c.402C>G (p.Tyr134Ter)Cerebral creatine deficiency syndrome [RCV001218543]|Deficiency of guanidinoacetate methyltransferase [RCV001780138]pathogenic1913991851399185Human2name , alternate_id
38492636CV928889single nucleotide variantNM_000156.6(GAMT):c.347T>G (p.Leu116Arg)Cerebral creatine deficiency syndrome [RCV001223725]|Deficiency of guanidinoacetate methyltransferase [RCV001833939]uncertain significance1913995681399568Human2name , alternate_id
38471366CV950700single nucleotide variantNM_000156.6(GAMT):c.354G>C (p.Glu118Asp)Cerebral creatine deficiency syndrome [RCV001231201]uncertain significance1913995611399561Human1name
38457895CV958557single nucleotide variantNM_000156.6(GAMT):c.638C>T (p.Ala213Val)Cerebral creatine deficiency syndrome [RCV001246130]|Deficiency of guanidinoacetate methyltransferase [RCV001829978]uncertain significance1913974321397432Human2name , alternate_id
38462420CV958558single nucleotide variantNM_000156.6(GAMT):c.586G>A (p.Ala196Thr)Cerebral creatine deficiency syndrome [RCV001247143]|Deficiency of guanidinoacetate methyltransferase [RCV001835290]uncertain significance1913974841397484Human2name , alternate_id
38465652CV958559single nucleotide variantNM_000156.6(GAMT):c.560T>C (p.Ile187Thr)Cerebral creatine deficiency syndrome [RCV001247587]|Deficiency of guanidinoacetate methyltransferase [RCV001835299]uncertain significance1913989261398926Human2name , alternate_id
38493421CV958560single nucleotide variantNM_000156.6(GAMT):c.521G>T (p.Trp174Leu)Cerebral creatine deficiency syndrome [RCV001240673]|Deficiency of guanidinoacetate methyltransferase [RCV001828958]|not specified [RCV004782681]uncertain significance1913989651398965Human2name , alternate_id
39456994CV966309single nucleotide variantNM_000156.6(GAMT):c.437C>G (p.Thr146Arg)Deficiency of guanidinoacetate methyltransferase [RCV004799445]uncertain significance1913991501399150Human1name , alternate_id
126752667CV998426single nucleotide variantNM_000156.6(GAMT):c.649C>G (p.Pro217Ala)Cerebral creatine deficiency syndrome [RCV001297772]|Inborn genetic diseases [RCV005340752]uncertain significance1913974211397421Human2name
126735939CV998427single nucleotide variantNM_000156.6(GAMT):c.324C>A (p.His108Gln)Cerebral creatine deficiency syndrome [RCV001304672]uncertain significance1913997961399796Human1name
126745424CV998428single nucleotide variantNM_000156.6(GAMT):c.308C>T (p.Ala103Val)Cerebral creatine deficiency syndrome [RCV001305979]uncertain significance1913998121399812Human1name
151764063CV1384515deletionNM_000156.6(GAMT):c.164_171del (p.Ala55fs)Cerebral creatine deficiency syndrome [RCV001987598]pathogenic1914013061401313Human1name
10397219CV203546microsatelliteNM_000156.6(GAMT):c.262ATC[1] (p.Ile89del)Cerebral creatine deficiency syndrome [RCV000802086]|Deficiency of guanidinoacetate methyltransferase [RCV001833120]|not specified [RCV000187592]uncertain significance1913998531399855Humanname , alternate_id
10397218CV203549microsatelliteNM_000156.6(GAMT):c.160GCC[5] (p.Ala57dup)not specified [RCV000187589]uncertain significance1914013051401306Humanname
156219110CV2035692duplicationNM_000156.6(GAMT):c.128_135dup (p.Glu46fs)Cerebral creatine deficiency syndrome [RCV002766922]pathogenic1914013411401342Human1name
405868917CV3400656microsatelliteNM_000156.6(GAMT):c.148_149dup (p.Met50fs)Deficiency of guanidinoacetate methyltransferase [RCV004576659]likely pathogenic1914013271401328Humanname , alternate_id
14711441CV647782microsatelliteNM_000156.6(GAMT):c.172TCC[3] (p.Ser59dup)Cerebral creatine deficiency syndrome [RCV000793456]|Deficiency of guanidinoacetate methyltransferase [RCV001830695]|Inborn genetic diseases [RCV002536964]|not provided [RCV004588252]|not specified [RCV003479219]uncertain significance1914012991401300Humanname , alternate_id
127271952CV1064661deletionNM_000156.6(GAMT):c.414_415del (p.Ser140fs)Cerebral creatine deficiency syndrome [RCV001390318]pathogenic1913991721399173Human1name
127256321CV1064663microsatelliteNM_000156.6(GAMT):c.324_325del (p.His108fs)Cerebral creatine deficiency syndrome [RCV001386526]|Deficiency of guanidinoacetate methyltransferase [RCV003469721]pathogenic|likely pathogenic1913997951399796Humanname , alternate_id
151882089CV1364057deletionNM_000156.6(GAMT):c.470_476del (p.Phe157fs)Cerebral creatine deficiency syndrome [RCV001999757]pathogenic1913990101399016Human1name
151841107CV1428510microsatelliteNM_000156.6(GAMT):c.440_441dup (p.Gln148fs)Cerebral creatine deficiency syndrome [RCV001994756]pathogenic1913991451399146Humanname
151854750CV1453736duplicationNM_000156.6(GAMT):c.432_433dup (p.His145fs)Cerebral creatine deficiency syndrome [RCV001883192]pathogenic1913991531399154Human1name
156408735CV1911745inversionNM_000156.6(GAMT):c.157_158inv (p.Leu53Arg)Cerebral creatine deficiency syndrome [RCV002607330]uncertain significance1914013191401320Humanname
156347750CV2052008deletionNM_000156.6(GAMT):c.332_338del (p.Ile111fs)Cerebral creatine deficiency syndrome [RCV002811559]|Deficiency of guanidinoacetate methyltransferase [RCV003146644]pathogenic|likely pathogenic1913995771399583Human2name , alternate_id
155908126CV2144588deletionNM_000156.6(GAMT):c.608_621del (p.Arg203fs)Cerebral creatine deficiency syndrome [RCV003012056]pathogenic1913974491397462Human1name
8560428CV23341duplicationNM_000156.6(GAMT):c.299_311dup (p.Arg105fs)Cerebral creatine deficiency syndrome [RCV000534459]|Deficiency of guanidinoacetate methyltransferase [RCV000008800]|Inborn genetic diseases [RCV002433449]|not provided [RCV001787373]pathogenic1913998081399809Human3name , alternate_id
404977322CV2850148microsatelliteNM_000156.6(GAMT):c.421GAG[1] (p.Glu142del)Deficiency of guanidinoacetate methyltransferase [RCV003486081]uncertain significance1913991611399163Humanname , alternate_id
405249676CV2990813deletionNM_000156.6(GAMT):c.444_448del (p.Phe149fs)Cerebral creatine deficiency syndrome [RCV003747228]|Deficiency of guanidinoacetate methyltransferase [RCV005030181]pathogenic|likely pathogenic1913991391399143Human2name , alternate_id
598121817CV3500328deletionNM_000156.6(GAMT):c.222_224del (p.Ala75del)Parkinson disease, late-onset [RCV005235769]pathogenic1913998961399898Human1name
408391952CV3526393microsatelliteNM_000156.6(GAMT):c.373_376del (p.Pro125fs)Deficiency of guanidinoacetate methyltransferase [RCV004775644]pathogenic1913995391399542Humanname , alternate_id
597647036CV3712821microsatelliteNM_000156.6(GAMT):c.418_419del (p.Ser140fs)Deficiency of guanidinoacetate methyltransferase [RCV005026391]likely pathogenic1913991681399169Humanname , alternate_id
13520504CV495859duplicationNM_000156.6(GAMT):c.159_161dup (p.Ala57dup)not provided [RCV000598687]uncertain significance1914013151401316Humanname
26920573CV847389microsatelliteNM_000156.6(GAMT):c.440_441del (p.His147fs)Cerebral creatine deficiency syndrome [RCV001060114]|Deficiency of guanidinoacetate methyltransferase [RCV004596401]pathogenic|conflicting interpretations of pathogenicity|uncertain significance1913991461399147Humanname , alternate_id
597948075CV3771822insertionNM_000156.6(GAMT):c.498_499insT (p.Thr167fs)Cerebral creatine deficiency syndrome [RCV005120348]pathogenic1913989871398988Human1name
150338536CV1174372insertionNM_000156.6(GAMT):c.313_314insTG (p.Arg105fs)Deficiency of guanidinoacetate methyltransferase [RCV001542501]pathogenic1913998061399807Human1name , alternate_id
38487841CV938603insertionNM_000156.6(GAMT):c.91_92insCACGG (p.Asp31fs)Cerebral creatine deficiency syndrome [RCV001209481]|Deficiency of guanidinoacetate methyltransferase [RCV001780120]pathogenic|likely pathogenic|conflicting interpretations of pathogenicity1914013851401386Human2name , alternate_id
597647044CV3712822indelNM_000156.6(GAMT):c.184_185delinsT (p.Gly62fs)Deficiency of guanidinoacetate methyltransferase [RCV005026392]likely pathogenic1913999351399936Humanname , alternate_id
10397561CV203550indelNM_000156.6(GAMT):c.154_155delinsTT (p.Ala52Leu)not specified [RCV000187588]uncertain significance1914013221401323Humanname
401722270CV2735598indelNM_000156.6(GAMT):c.610_611delinsGAA (p.Arg204fs)Deficiency of guanidinoacetate methyltransferase [RCV003307399]likely pathogenic1913974591397460Humanname , alternate_id
405170577CV2906998deletionNM_000156.6(GAMT):c.503_517del (p.Tyr168_Thr172del)Cerebral creatine deficiency syndrome [RCV003587559]pathogenic1913989691398983Human1name
13211524CV426289duplicationNM_000156.6(GAMT):c.507_521dup (p.Cys169_Ser173dup)Cerebral creatine deficiency syndrome [RCV000695868]|Deficiency of guanidinoacetate methyltransferase [RCV002305494]|Inborn genetic diseases [RCV002318603]|not provided [RCV000497566]pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance1913989641398965Human3name , alternate_id
8692231CV142197single nucleotide variantNM_024407.5(NDUFS7):c.*13C>ADeficiency of guanidinoacetate methyltransferase [RCV000335492]|Leigh syndrome [RCV000390875]|Mitochondrial complex I deficiency [RCV000345055]|Mitochondrial complex I deficiency, nuclear type 1 [RCV001126906]|not provided [RCV004703408]|not specified [RCV000127159]benign|likely benign1913955011395501Human4alternate_id
8557444CV18513single nucleotide variantNM_001368894.2(PAX6):c.1310A>T (p.Ter437Leu)Aniridia 1 [RCV000003642]|Aniridia 1 [RCV000762838]|Aniridia 1 [RCV000805010]|Foveal hypoplasia 1 [RCV005234778]|Hypertelorism [RCV000785745]|not provided [RCV000327291]pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|no classifications from unflagged records113178993531789935Human8alternate_id