GAMT (guanidinoacetate N-methyltransferase) - Rat Genome Database

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Gene: GAMT (guanidinoacetate N-methyltransferase) Homo sapiens
Analyze
Symbol: GAMT
Name: guanidinoacetate N-methyltransferase
RGD ID: 732024
HGNC Page HGNC:4136
Description: Enables guanidinoacetate N-methyltransferase activity. Involved in creatine biosynthetic process. Predicted to be located in cytosol. Predicted to be active in cytoplasm and nucleus. Implicated in amino acid metabolic disorder and guanidinoacetate methyltransferase deficiency. Biomarker of pre-eclampsia.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CCDS2; epididymis secretory protein Li 20; HEL-S-20; PIG2; TP53I2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: GAMTP1   GAMTP2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38191,397,026 - 1,401,542 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl191,397,026 - 1,401,570 (-)EnsemblGRCh38hg38GRCh38
GRCh37191,397,025 - 1,401,541 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36191,348,088 - 1,352,552 (-)NCBINCBI36Build 36hg18NCBI36
Build 34191,349,607 - 1,352,552NCBI
Celera191,331,366 - 1,335,830 (-)NCBICelera
Cytogenetic Map19p13.3NCBI
HuRef191,171,878 - 1,176,401 (-)NCBIHuRef
CHM1_1191,397,126 - 1,401,670 (-)NCBICHM1_1
T2T-CHM13v2.0191,367,024 - 1,371,540 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
1,2-dichloroethane  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2,4-dinitrotoluene  (ISO)
2-hydroxypropanoic acid  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3-chloropropane-1,2-diol  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-fluorouracil  (EXP)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
aflatoxin B1  (ISO)
amiodarone  (ISO)
amitrole  (ISO)
ammonia  (EXP)
ammonium chloride  (ISO)
aristolochic acid A  (EXP)
benzbromarone  (ISO)
benzo[a]pyrene  (EXP,ISO)
bis(2-chloroethyl) sulfide  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bromobenzene  (ISO)
butanal  (EXP)
carbon nanotube  (ISO)
carmustine  (EXP)
chlordecone  (ISO)
ciguatoxin CTX1B  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
cobalt dichloride  (ISO)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) sulfate  (EXP)
crocidolite asbestos  (EXP)
Cuprizon  (ISO)
cyclophosphamide  (EXP)
cyclosporin A  (EXP,ISO)
dexamethasone  (ISO)
dibutyl phthalate  (ISO)
diiodine  (ISO)
diquat  (ISO)
doxorubicin  (EXP)
entinostat  (EXP)
epoxiconazole  (ISO)
ethyl methanesulfonate  (EXP)
gentamycin  (ISO)
glycidol  (ISO)
glyphosate  (ISO)
Heliotrine  (EXP)
hydralazine  (EXP)
indometacin  (ISO)
irinotecan  (ISO)
ivermectin  (EXP)
L-ascorbic acid  (ISO)
L-ethionine  (ISO)
lead(0)  (EXP)
methotrexate  (EXP)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
mono(2-ethylhexyl) phthalate  (ISO)
N-nitrosodiethylamine  (ISO)
omeprazole  (ISO)
paclitaxel  (EXP)
paracetamol  (EXP,ISO)
paraquat  (ISO)
phenobarbital  (ISO)
phenylephrine  (ISO)
pirinixic acid  (EXP,ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
propanal  (EXP)
rac-lactic acid  (EXP)
SB 431542  (EXP)
Senkirkine  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (EXP,ISO)
sodium fluoride  (ISO)
sodium perchlorate  (ISO)
sulfadimethoxine  (ISO)
tauroursodeoxycholic acid  (ISO)
testosterone  (ISO)
tetrachloroethene  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
thiram  (EXP)
Triptolide  (ISO)
urethane  (EXP)
ursodeoxycholic acid  (ISO)
valproic acid  (EXP,ISO)
vancomycin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IBA)
cytosol  (TAS)
nucleus  (IBA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Homoarginine levels are regulated by L-arginine:glycine amidinotransferase and affect stroke outcome: results from human and murine studies. Choe CU, etal., Circulation. 2013 Sep 24;128(13):1451-61. doi: 10.1161/CIRCULATIONAHA.112.000580. Epub 2013 Sep 4.
2. The Effects of Early-Onset Pre-Eclampsia on Placental Creatine Metabolism in the Third Trimester. Ellery SJ, etal., Int J Mol Sci. 2020 Jan 26;21(3):806. doi: 10.3390/ijms21030806.
3. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
4. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
5. Catalytic mechanism of guanidinoacetate methyltransferase: crystal structures of guanidinoacetate methyltransferase ternary complexes. Komoto J, etal., Biochemistry 2004 Nov 16;43(45):14385-94.
6. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
7. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
8. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
9. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
10. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
11. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
12. Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man. Stockler S, etal., Am J Hum Genet. 1996 May;58(5):914-22.
13. Myocellular creatine and creatine transporter serine phosphorylation after starvation. Zhao CR, etal., J Surg Res 2002 Jun 1;105(1):10-6.
Additional References at PubMed
PMID:8547310   PMID:9305847   PMID:9325156   PMID:9570966   PMID:10531498   PMID:10893433   PMID:12477932   PMID:15057824   PMID:15489334   PMID:16899382   PMID:17171576   PMID:17336114  
PMID:19027335   PMID:19161160   PMID:19288536   PMID:19343046   PMID:20301334   PMID:20301745   PMID:21044950   PMID:21140503   PMID:21190923   PMID:21873635   PMID:21988832   PMID:23031365  
PMID:23376485   PMID:24415674   PMID:26003046   PMID:26186194   PMID:26319512   PMID:26542286   PMID:28055022   PMID:28514442   PMID:28718761   PMID:29449460   PMID:31559727   PMID:32296183  
PMID:33001583   PMID:33961781   PMID:34990904   PMID:35256949   PMID:35588794   PMID:35831314   PMID:35914814   PMID:35944360   PMID:36215168   PMID:38452609  


Genomics

Comparative Map Data
GAMT
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38191,397,026 - 1,401,542 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl191,397,026 - 1,401,570 (-)EnsemblGRCh38hg38GRCh38
GRCh37191,397,025 - 1,401,541 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36191,348,088 - 1,352,552 (-)NCBINCBI36Build 36hg18NCBI36
Build 34191,349,607 - 1,352,552NCBI
Celera191,331,366 - 1,335,830 (-)NCBICelera
Cytogenetic Map19p13.3NCBI
HuRef191,171,878 - 1,176,401 (-)NCBIHuRef
CHM1_1191,397,126 - 1,401,670 (-)NCBICHM1_1
T2T-CHM13v2.0191,367,024 - 1,371,540 (-)NCBIT2T-CHM13v2.0
Gamt
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391080,093,985 - 80,096,846 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1080,093,985 - 80,096,846 (-)EnsemblGRCm39 Ensembl
GRCm381080,258,151 - 80,261,025 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1080,258,151 - 80,261,012 (-)EnsemblGRCm38mm10GRCm38
MGSCv371079,720,896 - 79,723,713 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361079,661,328 - 79,664,141 (-)NCBIMGSCv36mm8
Celera1081,273,024 - 81,275,841 (-)NCBICelera
Cytogenetic Map10C1NCBI
cM Map1039.72NCBI
Gamt
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8710,099,267 - 10,102,083 (+)NCBIGRCr8
mRatBN7.279,448,590 - 9,451,413 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl79,448,628 - 9,451,778 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx712,331,403 - 12,334,202 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0714,206,743 - 14,209,542 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0712,068,078 - 12,070,877 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0712,314,848 - 12,317,998 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl712,314,848 - 12,317,998 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0712,484,097 - 12,487,698 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4710,959,990 - 10,962,720 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1710,959,989 - 10,962,720 (+)NCBI
Celera77,625,330 - 7,628,480 (+)NCBICelera
Cytogenetic Map7q11NCBI
Gamt
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554956,536,544 - 6,539,424 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554956,536,541 - 6,539,424 (+)NCBIChiLan1.0ChiLan1.0
GAMT
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2205,743,093 - 5,749,393 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1194,980,010 - 4,986,337 (-)NCBINHGRI_mPanPan1
PanPan1.1191,371,043 - 1,375,514 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl191,371,312 - 1,375,461 (-)Ensemblpanpan1.1panPan2
GAMT
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12057,440,698 - 57,442,588 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2057,231,269 - 57,233,795 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02058,170,588 - 58,173,114 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2058,170,577 - 58,173,106 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12057,226,557 - 57,229,082 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02057,706,242 - 57,708,766 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02057,908,247 - 57,910,773 (+)NCBIUU_Cfam_GSD_1.0
Gamt
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118217,110,293 - 217,113,339 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936588721,313 - 724,524 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936588721,436 - 724,475 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GAMT
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl277,076,566 - 77,079,759 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1277,076,566 - 77,079,751 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2277,968,844 - 77,972,039 (+)NCBISscrofa10.2Sscrofa10.2susScr3
GAMT
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.161,165,016 - 1,178,458 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl61,164,259 - 1,178,354 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660817,693,065 - 7,697,357 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Gamt
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248287,294,327 - 7,297,303 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248287,294,380 - 7,297,787 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GAMT
547 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000156.6(GAMT):c.9C>T (p.Ala3=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000545906] Chr19:1401468 [GRCh38]
Chr19:1401467 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.293G>A (p.Arg98Gln) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001857977]|Deficiency of guanidinoacetate methyltransferase [RCV001834693]|not provided [RCV000520268] Chr19:1399827 [GRCh38]
Chr19:1399826 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.317A>C (p.Gln106Pro) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001764518]|Deficiency of guanidinoacetate methyltransferase [RCV003302757]|not provided [RCV000519993] Chr19:1399803 [GRCh38]
Chr19:1399802 [GRCh37]
Chr19:19p13.3		 likely pathogenic|uncertain significance
NM_000156.6(GAMT):c.141C>A (p.Thr47=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000557510]|not provided [RCV003886413]|not specified [RCV000613727] Chr19:1401336 [GRCh38]
Chr19:1401335 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.327G>A (p.Lys109=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000655367]|Deficiency of guanidinoacetate methyltransferase [RCV000020141]|Inborn genetic diseases [RCV002513136]|not provided [RCV000187564] Chr19:1399793 [GRCh38]
Chr19:1399792 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_000156.6(GAMT):c.438A>G (p.Thr146=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV002054453]|Deficiency of guanidinoacetate methyltransferase [RCV000020142] Chr19:1399149 [GRCh38]
Chr19:1399148 [GRCh37]
Chr19:19p13.3		 benign|likely benign|uncertain significance
NM_000156.6(GAMT):c.460-31G>A single nucleotide variant Deficiency of guanidinoacetate methyltransferase [RCV000020143]|not provided [RCV000829815]|not specified [RCV004597730] Chr19:1399057 [GRCh38]
Chr19:1399056 [GRCh37]
Chr19:19p13.3		 benign
NM_000156.6(GAMT):c.626C>T (p.Thr209Met) single nucleotide variant 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] Chr19:1397444 [GRCh38]
Chr19:1397443 [GRCh37]
Chr19:19p13.3		 benign|likely benign|conflicting interpretations of pathogenicity
GAMT, IVS2DS, G-A, -1 single nucleotide variant Deficiency of guanidinoacetate methyltransferase [RCV000008799] Chr19:19p13.3 pathogenic
NM_000156.6(GAMT):c.299_311dup (p.Arg105fs) duplication Cerebral creatine deficiency syndrome [RCV000534459]|Deficiency of guanidinoacetate methyltransferase [RCV000008800]|Inborn genetic diseases [RCV002433449]|not provided [RCV001787373] Chr19:1399808..1399809 [GRCh38]
Chr19:1399807..1399808 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_000156.6(GAMT):c.59G>C (p.Trp20Ser) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000799554]|Deficiency of guanidinoacetate methyltransferase [RCV000008801]|Inborn genetic diseases [RCV002354153]|See cases [RCV002251891]|not provided [RCV000986201] Chr19:1401418 [GRCh38]
Chr19:1401417 [GRCh37]
Chr19:19p13.3		 pathogenic|likely pathogenic
NM_000156.6(GAMT):c.506G>A (p.Cys169Tyr) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001762039]|Deficiency of guanidinoacetate methyltransferase [RCV000008802] Chr19:1398980 [GRCh38]
Chr19:1398979 [GRCh37]
Chr19:19p13.3		 pathogenic|likely pathogenic
NM_000156.6(GAMT):c.148A>C (p.Met50Leu) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001851745]|Deficiency of guanidinoacetate methyltransferase [RCV000008803] Chr19:1401329 [GRCh38]
Chr19:1401328 [GRCh37]
Chr19:19p13.3		 pathogenic|likely pathogenic|uncertain significance
NM_000156.6(GAMT):c.441C>A (p.His147Gln) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000655370]|not provided [RCV000521099] Chr19:1399146 [GRCh38]
Chr19:1399145 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh38/hg38 19p13.3(chr19:259395-2555149)x3 copy number gain See cases [RCV000051044] Chr19:259395..2555149 [GRCh38]
Chr19:259395..2555147 [GRCh37]
Chr19:210395..2506147 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3(chr19:259395-1952650)x3 copy number gain See cases [RCV000052875] Chr19:259395..1952650 [GRCh38]
Chr19:259395..1952649 [GRCh37]
Chr19:210395..1903649 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:265917-8564134)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|See cases [RCV000052876] Chr19:265917..8564134 [GRCh38]
Chr19:265917..8629018 [GRCh37]
Chr19:216917..8535018 [NCBI36]
Chr19:19p13.3-13.2		 pathogenic
GRCh38/hg38 19p13.3(chr19:233565-4699472)x3 copy number gain See cases [RCV000052575] Chr19:233565..4699472 [GRCh38]
Chr19:233565..4699484 [GRCh37]
Chr19:184565..4650484 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3(chr19:945098-1972299)x1 copy number loss See cases [RCV000053938] Chr19:945098..1972299 [GRCh38]
Chr19:945098..1972298 [GRCh37]
Chr19:896098..1923298 [NCBI36]
Chr19:19p13.3		 pathogenic
NM_000156.6(GAMT):c.571-6G>A single nucleotide variant Cerebral creatine deficiency syndrome [RCV001521976]|Deficiency of guanidinoacetate methyltransferase [RCV000261636]|Leigh syndrome [RCV000276453]|Mitochondrial complex I deficiency [RCV000368554]|not provided [RCV000676878]|not specified [RCV000117116] Chr19:1397505 [GRCh38]
Chr19:1397504 [GRCh37]
Chr19:19p13.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000156.6(GAMT):c.182-18C>T single nucleotide variant Cerebral creatine deficiency syndrome [RCV002055552]|not specified [RCV000125188] Chr19:1399956 [GRCh38]
Chr19:1399955 [GRCh37]
Chr19:19p13.3		 benign
NM_000156.6(GAMT):c.225G>A (p.Ala75=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000862748]|Deficiency of guanidinoacetate methyltransferase [RCV001127425]|Inborn genetic diseases [RCV002444588]|not specified [RCV000125189] Chr19:1399895 [GRCh38]
Chr19:1399894 [GRCh37]
Chr19:19p13.3		 benign|likely benign|uncertain significance
NM_000156.6(GAMT):c.279C>T (p.Asp93=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000655373]|Deficiency of guanidinoacetate methyltransferase [RCV001127002]|Inborn genetic diseases [RCV002316369]|not provided [RCV001701678]|not specified [RCV000125190] Chr19:1399841 [GRCh38]
Chr19:1399840 [GRCh37]
Chr19:19p13.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000156.6(GAMT):c.348G>A (p.Leu116=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000466247]|Deficiency of guanidinoacetate methyltransferase [RCV000377519]|GAMT-related disorder [RCV003915252]|Inborn genetic diseases [RCV002312879]|not specified [RCV000125191] Chr19:1399567 [GRCh38]
Chr19:1399566 [GRCh37]
Chr19:19p13.3		 benign|likely benign
NM_000156.6(GAMT):c.392-7C>T single nucleotide variant Cerebral creatine deficiency syndrome [RCV000655376]|Deficiency of guanidinoacetate methyltransferase [RCV000322929]|not provided [RCV003415932]|not specified [RCV000125192] Chr19:1399202 [GRCh38]
Chr19:1399201 [GRCh37]
Chr19:19p13.3		 benign|likely benign|uncertain significance
NM_000156.6(GAMT):c.570+165G>A single nucleotide variant Deficiency of guanidinoacetate methyltransferase [RCV000605328]|not specified [RCV000125193] Chr19:1398751 [GRCh38]
Chr19:1398750 [GRCh37]
Chr19:19p13.3		 benign
NM_000156.5(GAMT):c.11C>T (p.Pro4Leu) single nucleotide variant not provided [RCV000125196] Chr19:1401466 [GRCh38]
Chr19:1401465 [GRCh37]
Chr19:19p13.3		 benign
NM_000156.6(GAMT):c.668dup (p.Tyr223Ter) duplication Cerebral creatine deficiency syndrome [RCV001296499]|Deficiency of guanidinoacetate methyltransferase [RCV001272267]|not provided [RCV000514004] Chr19:1397401..1397402 [GRCh38]
Chr19:1397400..1397401 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.414A>G (p.Pro138=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001493933]|Deficiency of guanidinoacetate methyltransferase [RCV001832647]|Inborn genetic diseases [RCV002329602] Chr19:1399173 [GRCh38]
Chr19:1399172 [GRCh37]
Chr19:19p13.3		 likely benign
GRCh38/hg38 19p13.3(chr19:421537-2897921)x3 copy number gain See cases [RCV000134894] Chr19:421537..2897921 [GRCh38]
Chr19:421537..2897919 [GRCh37]
Chr19:372537..2848919 [NCBI36]
Chr19:19p13.3		 likely pathogenic
GRCh38/hg38 19p13.3(chr19:259395-2068507)x3 copy number gain See cases [RCV000135433] Chr19:259395..2068507 [GRCh38]
Chr19:259395..2068506 [GRCh37]
Chr19:210395..2019506 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3(chr19:1351163-2555149)x3 copy number gain See cases [RCV000136880] Chr19:1351163..2555149 [GRCh38]
Chr19:1351162..2555147 [GRCh37]
Chr19:1302162..2506147 [NCBI36]
Chr19:19p13.3		 uncertain significance
GRCh38/hg38 19p13.3(chr19:275925-1892276)x3 copy number gain See cases [RCV000141358] Chr19:275925..1892276 [GRCh38]
Chr19:275925..1892275 [GRCh37]
Chr19:226925..1843275 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3(chr19:259395-6795611)x3 copy number gain See cases [RCV000142627] Chr19:259395..6795611 [GRCh38]
Chr19:259395..6795622 [GRCh37]
Chr19:210395..6746622 [NCBI36]
Chr19:19p13.3		 pathogenic
NM_000156.6(GAMT):c.227C>T (p.Ser76Leu) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000470154]|Deficiency of guanidinoacetate methyltransferase [RCV000764185]|Inborn genetic diseases [RCV002317012]|not provided [RCV000420649] Chr19:1399893 [GRCh38]
Chr19:1399892 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.79T>C (p.Tyr27His) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001081204]|Deficiency of guanidinoacetate methyltransferase [RCV001127426]|GAMT-related disorder [RCV003907448]|Guanidinoacetate methyltransferase (GAMT) deficiency [RCV001009545]|Inborn genetic diseases [RCV002312992]|Intellectual disability [RCV001251994]|not provided [RCV000224880]|not specified [RCV000153308] Chr19:1401398 [GRCh38]
Chr19:1401397 [GRCh37]
Chr19:19p13.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000156.6(GAMT):c.217A>G (p.Ile73Val) single nucleotide variant Cerebral creatine deficiency syndrome [RCV002517938]|Inborn genetic diseases [RCV002426922]|not specified [RCV000194321] Chr19:1399903 [GRCh38]
Chr19:1399902 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.*11C>T single nucleotide variant Deficiency of guanidinoacetate methyltransferase [RCV000356370]|not specified [RCV000125196] Chr19:1397348 [GRCh38]
Chr19:1397347 [GRCh37]
Chr19:19p13.3		 benign|likely benign
NM_000156.6(GAMT):c.160GCC[5] (p.Ala57dup) microsatellite not specified [RCV000187589] Chr19:1401305..1401306 [GRCh38]
Chr19:1401304..1401305 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.262ATC[1] (p.Ile89del) microsatellite Cerebral creatine deficiency syndrome [RCV000802086]|Deficiency of guanidinoacetate methyltransferase [RCV001833120]|not specified [RCV000187592] Chr19:1399853..1399855 [GRCh38]
Chr19:1399852..1399854 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.-27A>C single nucleotide variant not specified [RCV000187555] Chr19:1401503 [GRCh38]
Chr19:1401502 [GRCh37]
Chr19:19p13.3		 benign|likely benign
NM_000156.6(GAMT):c.-23C>T single nucleotide variant not specified [RCV000187556] Chr19:1401499 [GRCh38]
Chr19:1401498 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.248T>A (p.Ile83Asn) single nucleotide variant not provided [RCV000187561] Chr19:1399872 [GRCh38]
Chr19:1399871 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.291G>T (p.Gln97His) single nucleotide variant Cerebral creatine deficiency syndrome [RCV002517860]|Deficiency of guanidinoacetate methyltransferase [RCV001827998]|Inborn genetic diseases [RCV004020268]|not provided [RCV000187562] Chr19:1399829 [GRCh38]
Chr19:1399828 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.526G>T (p.Glu176Ter) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001378842]|Deficiency of guanidinoacetate methyltransferase [RCV001833115]|not provided [RCV000187571] Chr19:1398960 [GRCh38]
Chr19:1398959 [GRCh37]
Chr19:19p13.3		 pathogenic|likely pathogenic
NM_000156.6(GAMT):c.527A>C (p.Glu176Ala) single nucleotide variant not provided [RCV000187572] Chr19:1398959 [GRCh38]
Chr19:1398958 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.1A>G (p.Met1Val) single nucleotide variant Cerebral creatine deficiency syndrome [RCV002516992]|Deficiency of guanidinoacetate methyltransferase [RCV001329066] Chr19:1401476 [GRCh38]
Chr19:1401475 [GRCh37]
Chr19:19p13.3		 pathogenic|uncertain significance
NM_000156.6(GAMT):c.677C>T (p.Pro226Leu) single nucleotide variant Deficiency of guanidinoacetate methyltransferase [RCV002305457]|not provided [RCV000187579] Chr19:1397393 [GRCh38]
Chr19:1397392 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.17C>T (p.Ala6Val) single nucleotide variant Cerebral creatine deficiency syndrome [RCV002517862]|Deficiency of guanidinoacetate methyltransferase [RCV001828001]|Inborn genetic diseases [RCV003258689]|not provided [RCV000187582] Chr19:1401460 [GRCh38]
Chr19:1401459 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.68C>T (p.Ala23Val) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001317220]|Deficiency of guanidinoacetate methyltransferase [RCV001833118]|not provided [RCV000187584] Chr19:1401409 [GRCh38]
Chr19:1401408 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.92A>T (p.Asp31Val) single nucleotide variant Inborn genetic diseases [RCV002371514] Chr19:1401385 [GRCh38]
Chr19:1401384 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.128A>G (p.Glu43Gly) single nucleotide variant not provided [RCV000187587] Chr19:1401349 [GRCh38]
Chr19:1401348 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.154_155delinsTT (p.Ala52Leu) indel not specified [RCV000187588] Chr19:1401322..1401323 [GRCh38]
Chr19:1401321..1401322 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.312A>G (p.Pro104=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000866408]|not specified [RCV000187548] Chr19:1399808 [GRCh38]
Chr19:1399807 [GRCh37]
Chr19:19p13.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000156.6(GAMT):c.331A>C (p.Ile111Leu) single nucleotide variant Cerebral creatine deficiency syndrome [RCV003586163]|not provided [RCV000187549] Chr19:1399584 [GRCh38]
Chr19:1399583 [GRCh37]
Chr19:19p13.3		 likely benign|uncertain significance
NM_000156.6(GAMT):c.379G>A (p.Gly127Ser) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001248221]|Deficiency of guanidinoacetate methyltransferase [RCV001272272]|not provided [RCV001704991]|not specified [RCV000187550] Chr19:1399536 [GRCh38]
Chr19:1399535 [GRCh37]
Chr19:19p13.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000156.6(GAMT):c.600C>T (p.Ala200=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000471429]|not provided [RCV004584623]|not specified [RCV000187551] Chr19:1397470 [GRCh38]
Chr19:1397469 [GRCh37]
Chr19:19p13.3		 benign|likely benign
NM_000156.6(GAMT):c.655G>A (p.Asp219Asn) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000655358]|Deficiency of guanidinoacetate methyltransferase [RCV001275200]|Inborn genetic diseases [RCV002311267]|not provided [RCV001704992] Chr19:1397415 [GRCh38]
Chr19:1397414 [GRCh37]
Chr19:19p13.3		 likely benign|uncertain significance
NM_000156.6(GAMT):c.-44C>T single nucleotide variant not specified [RCV000187553] Chr19:1401520 [GRCh38]
Chr19:1401519 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.-31A>G single nucleotide variant not specified [RCV000187554] Chr19:1401507 [GRCh38]
Chr19:1401506 [GRCh37]
Chr19:19p13.3		 benign
NM_000156.6(GAMT):c.7G>A (p.Ala3Thr) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000457994]|Deficiency of guanidinoacetate methyltransferase [RCV000764186]|Inborn genetic diseases [RCV002317099] Chr19:1401470 [GRCh38]
Chr19:1401469 [GRCh37]
Chr19:19p13.3		 likely benign|uncertain significance
NM_000156.6(GAMT):c.7G>T (p.Ala3Ser) single nucleotide variant not specified [RCV000187558] Chr19:1401470 [GRCh38]
Chr19:1401469 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.242C>T (p.Ala81Val) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001088002]|Deficiency of guanidinoacetate methyltransferase [RCV001127003]|Inborn genetic diseases [RCV002453689]|not provided [RCV000187560] Chr19:1399878 [GRCh38]
Chr19:1399877 [GRCh37]
Chr19:19p13.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000156.6(GAMT):c.298C>T (p.Arg100Trp) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001085182]|Deficiency of guanidinoacetate methyltransferase [RCV001275205]|Inborn genetic diseases [RCV002433841]|not provided [RCV000187563] Chr19:1399822 [GRCh38]
Chr19:1399821 [GRCh37]
Chr19:19p13.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000156.6(GAMT):c.328G>T (p.Val110Phe) single nucleotide variant Cerebral creatine deficiency syndrome [RCV002517861]|Deficiency of guanidinoacetate methyltransferase [RCV002305455]|not provided [RCV000187565] Chr19:1399587 [GRCh38]
Chr19:1399586 [GRCh37]
Chr19:19p13.3		 likely pathogenic|uncertain significance
NM_000156.6(GAMT):c.491G>A (p.Gly164Asp) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001300727]|Deficiency of guanidinoacetate methyltransferase [RCV002305456]|Inborn genetic diseases [RCV002345673]|not provided [RCV000187566]|not specified [RCV001731508] Chr19:1398995 [GRCh38]
Chr19:1398994 [GRCh37]
Chr19:19p13.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000156.6(GAMT):c.575C>T (p.Thr192Met) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000807491]|Deficiency of guanidinoacetate methyltransferase [RCV001124347]|Inborn genetic diseases [RCV002314717]|not provided [RCV000711734] Chr19:1397495 [GRCh38]
Chr19:1397494 [GRCh37]
Chr19:19p13.3		 likely benign|uncertain significance
NM_000156.6(GAMT):c.511C>G (p.Leu171Val) single nucleotide variant Cerebral creatine deficiency syndrome [RCV002516991]|Deficiency of guanidinoacetate methyltransferase [RCV001827999]|not provided [RCV000187568] Chr19:1398975 [GRCh38]
Chr19:1398974 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.522G>A (p.Trp174Ter) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000539751]|Deficiency of guanidinoacetate methyltransferase [RCV000316896]|GAMT-related disorder [RCV003907657]|not provided [RCV000187569] Chr19:1398964 [GRCh38]
Chr19:1398963 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_000156.6(GAMT):c.523G>C (p.Gly175Arg) single nucleotide variant not provided [RCV000187570] Chr19:1398963 [GRCh38]
Chr19:1398962 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.587C>T (p.Ala196Val) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000793466]|Inborn genetic diseases [RCV002354525]|not provided [RCV001704993] Chr19:1397483 [GRCh38]
Chr19:1397482 [GRCh37]
Chr19:19p13.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000156.6(GAMT):c.601G>A (p.Gly201Ser) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000697521]|Deficiency of guanidinoacetate methyltransferase [RCV001124345]|not provided [RCV000187574] Chr19:1397469 [GRCh38]
Chr19:1397468 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.608G>A (p.Arg203Gln) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000812302]|Deficiency of guanidinoacetate methyltransferase [RCV001828000]|not provided [RCV000187575] Chr19:1397462 [GRCh38]
Chr19:1397461 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.650C>T (p.Pro217Leu) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000553174]|Deficiency of guanidinoacetate methyltransferase [RCV001833116]|not provided [RCV000725402] Chr19:1397420 [GRCh38]
Chr19:1397419 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.670G>A (p.Ala224Thr) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000529306]|Deficiency of guanidinoacetate methyltransferase [RCV001123245]|Inborn genetic diseases [RCV002362982]|not provided [RCV000732178] Chr19:1397400 [GRCh38]
Chr19:1397399 [GRCh37]
Chr19:19p13.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000156.6(GAMT):c.689C>T (p.Thr230Met) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000814698]|Deficiency of guanidinoacetate methyltransferase [RCV001833117]|not provided [RCV000187580] Chr19:1397381 [GRCh38]
Chr19:1397380 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.707G>C (p.Gly236Ala) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000464619]|Deficiency of guanidinoacetate methyltransferase [RCV001123244]|Inborn genetic diseases [RCV002317100]|not provided [RCV000711736] Chr19:1397363 [GRCh38]
Chr19:1397362 [GRCh37]
Chr19:19p13.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_000156.6(GAMT):c.22C>A (p.Pro8Thr) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000815633]|Deficiency of guanidinoacetate methyltransferase [RCV001127428]|Inborn genetic diseases [RCV002317101]|not provided [RCV000187583] Chr19:1401455 [GRCh38]
Chr19:1401454 [GRCh37]
Chr19:19p13.3		 likely benign|uncertain significance
NM_000156.6(GAMT):c.124A>G (p.Met42Val) single nucleotide variant Cerebral creatine deficiency syndrome [RCV002517863]|Deficiency of guanidinoacetate methyltransferase [RCV001833119]|not provided [RCV000187586] Chr19:1401353 [GRCh38]
Chr19:1401352 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.581T>C (p.Val194Ala) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001082409]|Deficiency of guanidinoacetate methyltransferase [RCV001124346]|GAMT-related disorder [RCV003967474]|Inborn genetic diseases [RCV002317102]|not provided [RCV000711735]|not specified [RCV000187591] Chr19:1397489 [GRCh38]
Chr19:1397488 [GRCh37]
Chr19:19p13.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000156.6(GAMT):c.553A>C (p.Ile185Leu) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000552376]|Deficiency of guanidinoacetate methyltransferase [RCV001275202]|Inborn genetic diseases [RCV004619345] Chr19:1398933 [GRCh38]
Chr19:1398932 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.25A>G (p.Ile9Val) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001209203]|Deficiency of guanidinoacetate methyltransferase [RCV001127427]|GAMT-related disorder [RCV003419906]|Inborn genetic diseases [RCV002314907]|not provided [RCV000519092] Chr19:1401452 [GRCh38]
Chr19:1401451 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.211A>G (p.Met71Val) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000234406]|Deficiency of guanidinoacetate methyltransferase [RCV001272273]|Inborn genetic diseases [RCV002518308]|not provided [RCV003441807] Chr19:1399909 [GRCh38]
Chr19:1399908 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.642G>A (p.Leu214=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001442050]|not provided [RCV001702813]|not specified [RCV000604315] Chr19:1397428 [GRCh38]
Chr19:1397427 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.402C>T (p.Tyr134=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001497166]|not specified [RCV000604493] Chr19:1399185 [GRCh38]
Chr19:1399184 [GRCh37]
Chr19:19p13.3		 likely benign
GRCh37/hg19 19p13.3(chr19:277373-2555164)x3 copy number gain See cases [RCV000240507] Chr19:277373..2555164 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_000156.6(GAMT):c.367A>G (p.Thr123Ala) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000706359]|Deficiency of guanidinoacetate methyltransferase [RCV001833373]|Inborn genetic diseases [RCV004021220]|not provided [RCV000725990]|not specified [RCV000337338] Chr19:1399548 [GRCh38]
Chr19:1399547 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.189G>C (p.Arg63=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001086826]|Deficiency of guanidinoacetate methyltransferase [RCV000329271]|Inborn genetic diseases [RCV002314028]|not provided [RCV000726258]|not specified [RCV000406805] Chr19:1399931 [GRCh38]
Chr19:1399930 [GRCh37]
Chr19:19p13.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000156.6(GAMT):c.419C>A (p.Ser140Ter) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001211627]|Deficiency of guanidinoacetate methyltransferase [RCV000490258] Chr19:1399168 [GRCh38]
Chr19:1399167 [GRCh37]
Chr19:19p13.3		 pathogenic|likely pathogenic
NM_000156.6(GAMT):c.295C>T (p.Leu99Phe) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001856897]|not provided [RCV000489257] Chr19:1399825 [GRCh38]
Chr19:1399824 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.274A>G (p.Asn92Asp) single nucleotide variant Deficiency of guanidinoacetate methyltransferase [RCV003159287] Chr19:1399846 [GRCh38]
Chr19:1399845 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.403G>T (p.Asp135Tyr) single nucleotide variant Deficiency of guanidinoacetate methyltransferase [RCV003159293] Chr19:1399184 [GRCh38]
Chr19:1399183 [GRCh37]
Chr19:19p13.3		 likely pathogenic
NM_000156.6(GAMT):c.160G>C (p.Ala54Pro) single nucleotide variant Deficiency of guanidinoacetate methyltransferase [RCV003159288] Chr19:1401317 [GRCh38]
Chr19:1401316 [GRCh37]
Chr19:19p13.3		 likely pathogenic
NM_000156.6(GAMT):c.702C>T (p.Thr234=) single nucleotide variant Deficiency of guanidinoacetate methyltransferase [RCV001278557] Chr19:1397368 [GRCh38]
Chr19:1397367 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.*151T>C single nucleotide variant Deficiency of guanidinoacetate methyltransferase [RCV000390864]|Leigh syndrome [RCV000343350]|Mitochondrial complex I deficiency [RCV000304781]|not provided [RCV001672552] Chr19:1397208 [GRCh38]
Chr19:1397207 [GRCh37]
Chr19:19p13.3		 benign|likely benign
NM_000156.6(GAMT):c.*146A>C single nucleotide variant Deficiency of guanidinoacetate methyltransferase [RCV000310942]|Leigh syndrome [RCV000399238]|Mitochondrial complex I deficiency [RCV000308431]|not provided [RCV001594960] Chr19:1397213 [GRCh38]
Chr19:1397212 [GRCh37]
Chr19:19p13.3		 benign|likely benign
NM_000156.6(GAMT):c.*276C>T single nucleotide variant Deficiency of guanidinoacetate methyltransferase [RCV000369560]|Leigh syndrome [RCV000397956]|Mitochondrial complex I deficiency [RCV000340079]|not provided [RCV001709600] Chr19:1397083 [GRCh38]
Chr19:1397082 [GRCh37]
Chr19:19p13.3		 benign|likely benign
NM_000156.6(GAMT):c.328-10C>T single nucleotide variant Cerebral creatine deficiency syndrome [RCV000551075]|Deficiency of guanidinoacetate methyltransferase [RCV000264765]|not provided [RCV001705492]|not specified [RCV000437904] Chr19:1399597 [GRCh38]
Chr19:1399596 [GRCh37]
Chr19:19p13.3		 likely benign|uncertain significance
NM_000156.6(GAMT):c.396C>A (p.Ile132=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000470375]|Deficiency of guanidinoacetate methyltransferase [RCV000267848]|not provided [RCV001532364] Chr19:1399191 [GRCh38]
Chr19:1399190 [GRCh37]
Chr19:19p13.3		 likely benign|uncertain significance
NM_000156.6(GAMT):c.182G>A (p.Gly61Glu) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000550292]|Deficiency of guanidinoacetate methyltransferase [RCV000289407]|not provided [RCV000480090] Chr19:1399938 [GRCh38]
Chr19:1399937 [GRCh37]
Chr19:19p13.3		 likely benign|uncertain significance
NM_000156.6(GAMT):c.64G>A (p.Ala22Thr) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001859934]|Deficiency of guanidinoacetate methyltransferase [RCV000295163]|not provided [RCV000519834] Chr19:1401413 [GRCh38]
Chr19:1401412 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.140C>T (p.Thr47Ile) single nucleotide variant Deficiency of guanidinoacetate methyltransferase [RCV000344221] Chr19:1401337 [GRCh38]
Chr19:1401336 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.20C>A (p.Thr7Asn) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001245927]|Deficiency of guanidinoacetate methyltransferase [RCV000350120]|Inborn genetic diseases [RCV004021739] Chr19:1401457 [GRCh38]
Chr19:1401456 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.419C>T (p.Ser140Leu) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001850747]|Deficiency of guanidinoacetate methyltransferase [RCV000353046]|not provided [RCV001726120] Chr19:1399168 [GRCh38]
Chr19:1399167 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.133T>A (p.Trp45Arg) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001224201]|Deficiency of guanidinoacetate methyltransferase [RCV000389374] Chr19:1401344 [GRCh38]
Chr19:1401343 [GRCh37]
Chr19:19p13.3		 pathogenic|likely pathogenic
NM_000156.5(GAMT):c.-78C>T single nucleotide variant Deficiency of guanidinoacetate methyltransferase [RCV000392623] Chr19:1401554 [GRCh38]
Chr19:1401553 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.*311C>G single nucleotide variant Deficiency of guanidinoacetate methyltransferase [RCV000314996]|Leigh syndrome [RCV000282642]|Mitochondrial complex I deficiency [RCV000374817]|not provided [RCV001653594] Chr19:1397048 [GRCh38]
Chr19:1397047 [GRCh37]
Chr19:19p13.3		 benign|likely benign
NM_024407.5(NDUFS7):c.*13C>A single nucleotide variant Deficiency of guanidinoacetate methyltransferase [RCV000335492]|Leigh syndrome [RCV000390875]|Mitochondrial complex I deficiency [RCV000345055]|Mitochondrial complex I deficiency, nuclear type 1 [RCV001126906]|not specified [RCV000127159] Chr19:1395501 [GRCh38]
Chr19:1395500 [GRCh37]
Chr19:19p13.3		 benign|likely benign
NM_000156.6(GAMT):c.159_161dup (p.Ala57dup) duplication not provided [RCV000598687] Chr19:1401315..1401316 [GRCh38]
Chr19:1401314..1401315 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.607C>T (p.Arg203Trp) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001851490]|Deficiency of guanidinoacetate methyltransferase [RCV001834683]|not provided [RCV000523925] Chr19:1397463 [GRCh38]
Chr19:1397462 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.258T>C (p.His86=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000526436]|not specified [RCV000599695] Chr19:1399862 [GRCh38]
Chr19:1399861 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.473G>A (p.Arg158His) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000527209]|Deficiency of guanidinoacetate methyltransferase [RCV001834813] Chr19:1399013 [GRCh38]
Chr19:1399012 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.570+133G>A single nucleotide variant GAMT-related disorder [RCV003970113]|not specified [RCV000420756] Chr19:1398783 [GRCh38]
Chr19:1398782 [GRCh37]
Chr19:19p13.3		 benign|likely benign
NM_000156.6(GAMT):c.459+17T>C single nucleotide variant Cerebral creatine deficiency syndrome [RCV002063338]|not specified [RCV000430994] Chr19:1399111 [GRCh38]
Chr19:1399110 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.460-9C>T single nucleotide variant Cerebral creatine deficiency syndrome [RCV003114547]|not specified [RCV000434203] Chr19:1399035 [GRCh38]
Chr19:1399034 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.181+16C>A single nucleotide variant Cerebral creatine deficiency syndrome [RCV001861554]|not specified [RCV000423973] Chr19:1401280 [GRCh38]
Chr19:1401279 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.570+241G>C single nucleotide variant GAMT-related disorder [RCV003932578]|not provided [RCV001720004] Chr19:1398675 [GRCh38]
Chr19:1398674 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.153C>T (p.His51=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000537666]|not provided [RCV000424598] Chr19:1401324 [GRCh38]
Chr19:1401323 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.481A>T (p.Lys161Ter) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001389010]|Deficiency of guanidinoacetate methyltransferase [RCV003159118]|not provided [RCV000420204] Chr19:1399005 [GRCh38]
Chr19:1399004 [GRCh37]
Chr19:19p13.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000156.6(GAMT):c.314G>A (p.Arg105Gln) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000655368]|Deficiency of guanidinoacetate methyltransferase [RCV001275204]|not provided [RCV001721430] Chr19:1399806 [GRCh38]
Chr19:1399805 [GRCh37]
Chr19:19p13.3		 likely benign|uncertain significance
NM_000156.6(GAMT):c.*17G>A single nucleotide variant not specified [RCV000419734] Chr19:1397342 [GRCh38]
Chr19:1397341 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.270G>A (p.Glu90=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000458363]|GAMT-related disorder [RCV003922797]|not specified [RCV000426041] Chr19:1399850 [GRCh38]
Chr19:1399849 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.585C>T (p.Pro195=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000870591]|Inborn genetic diseases [RCV002356580]|not specified [RCV000422729] Chr19:1397485 [GRCh38]
Chr19:1397484 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.*2C>G single nucleotide variant not provided [RCV001718830] Chr19:1397357 [GRCh38]
Chr19:1397356 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.669C>T (p.Tyr223=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000461957] Chr19:1397401 [GRCh38]
Chr19:1397400 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.507_521dup (p.Cys169_Ser173dup) duplication Cerebral creatine deficiency syndrome [RCV000695868]|Deficiency of guanidinoacetate methyltransferase [RCV002305494]|Inborn genetic diseases [RCV002318603]|not provided [RCV000497566] Chr19:1398964..1398965 [GRCh38]
Chr19:1398963..1398964 [GRCh37]
Chr19:19p13.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000156.6(GAMT):c.292C>T (p.Arg98Trp) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001244364]|Deficiency of guanidinoacetate methyltransferase [RCV001275206]|Inborn genetic diseases [RCV002318602]|not provided [RCV000514101] Chr19:1399828 [GRCh38]
Chr19:1399827 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.313C>T (p.Arg105Trp) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001307228]|Deficiency of guanidinoacetate methyltransferase [RCV001834603]|not specified [RCV000498594] Chr19:1399807 [GRCh38]
Chr19:1399806 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.410A>C (p.Tyr137Ser) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001303060]|Deficiency of guanidinoacetate methyltransferase [RCV003159126]|not provided [RCV000493730] Chr19:1399177 [GRCh38]
Chr19:1399176 [GRCh37]
Chr19:19p13.3		 likely pathogenic|uncertain significance
NM_000156.6(GAMT):c.151C>G (p.His51Asp) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001298661]|not provided [RCV000494131] Chr19:1401326 [GRCh38]
Chr19:1401325 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3(chr19:260911-1965786)x3 copy number gain See cases [RCV000511452] Chr19:260911..1965786 [GRCh37]
Chr19:19p13.3		 likely pathogenic
NM_000156.6(GAMT):c.503A>C (p.Tyr168Ser) single nucleotide variant not provided [RCV000493155] Chr19:1398983 [GRCh38]
Chr19:1398982 [GRCh37]
Chr19:19p13.3		 pathogenic|likely pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic|uncertain significance
NM_000156.6(GAMT):c.571-9C>T single nucleotide variant Cerebral creatine deficiency syndrome [RCV002065415]|not specified [RCV000605778] Chr19:1397508 [GRCh38]
Chr19:1397507 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.570+161T>A single nucleotide variant Deficiency of guanidinoacetate methyltransferase [RCV000767984]|GAMT-related disorder [RCV003955495] Chr19:1398755 [GRCh38]
Chr19:1398754 [GRCh37]
Chr19:19p13.3		 likely benign|uncertain significance
NM_000156.6(GAMT):c.372G>C (p.Leu124=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001400299]|not specified [RCV000607165] Chr19:1399543 [GRCh38]
Chr19:1399542 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.181+10G>C single nucleotide variant Cerebral creatine deficiency syndrome [RCV000655374]|not specified [RCV000609604] Chr19:1401286 [GRCh38]
Chr19:1401285 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.459+9_459+12del microsatellite Cerebral creatine deficiency syndrome [RCV001398453]|Deficiency of guanidinoacetate methyltransferase [RCV002305515]|not specified [RCV000601307] Chr19:1399116..1399119 [GRCh38]
Chr19:1399115..1399118 [GRCh37]
Chr19:19p13.3		 likely benign|uncertain significance
NM_000156.6(GAMT):c.639G>A (p.Ala213=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000540532]|GAMT-related disorder [RCV003945343] Chr19:1397431 [GRCh38]
Chr19:1397430 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.-44C>A single nucleotide variant not specified [RCV000612718] Chr19:1401520 [GRCh38]
Chr19:1401519 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.327+16C>T single nucleotide variant not specified [RCV000607330] Chr19:1399777 [GRCh38]
Chr19:1399776 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.491dup (p.Val165fs) duplication Cerebral creatine deficiency syndrome [RCV001382861]|Deficiency of guanidinoacetate methyltransferase [RCV000587091] Chr19:1398994..1398995 [GRCh38]
Chr19:1398993..1398994 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_000156.6(GAMT):c.570+60A>G single nucleotide variant not specified [RCV000613258] Chr19:1398856 [GRCh38]
Chr19:1398855 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.471T>G (p.Phe157Leu) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000706494]|not specified [RCV000611035] Chr19:1399015 [GRCh38]
Chr19:1399014 [GRCh37]
Chr19:19p13.3		 likely benign|uncertain significance
NM_000156.6(GAMT):c.571-7C>T single nucleotide variant Cerebral creatine deficiency syndrome [RCV001407769]|not provided [RCV000527947] Chr19:1397506 [GRCh38]
Chr19:1397505 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.610_611delinsGAA (p.Arg204fs) indel Deficiency of guanidinoacetate methyltransferase [RCV003307399] Chr19:1397459..1397460 [GRCh38]
Chr19:1397458..1397459 [GRCh37]
Chr19:19p13.3		 likely pathogenic
GRCh37/hg19 19p13.3(chr19:259395-3152419) copy number gain Global developmental delay [RCV000626520] Chr19:259395..3152419 [GRCh37]
Chr19:19p13.3		 likely pathogenic
NM_000156.6(GAMT):c.507C>T (p.Cys169=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV003767466]|not specified [RCV000611269] Chr19:1398979 [GRCh38]
Chr19:1398978 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.224C>T (p.Ala75Val) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000655356]|Deficiency of guanidinoacetate methyltransferase [RCV001835900] Chr19:1399896 [GRCh38]
Chr19:1399895 [GRCh37]
Chr19:19p13.3		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000156.6(GAMT):c.701C>T (p.Thr234Ile) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000655357]|Deficiency of guanidinoacetate methyltransferase [RCV002305524] Chr19:1397369 [GRCh38]
Chr19:1397368 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.509A>G (p.Asn170Ser) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000655359]|Deficiency of guanidinoacetate methyltransferase [RCV001272270] Chr19:1398977 [GRCh38]
Chr19:1398976 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.662G>A (p.Arg221His) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000655360]|Deficiency of guanidinoacetate methyltransferase [RCV000768230]|Inborn genetic diseases [RCV002360672] Chr19:1397408 [GRCh38]
Chr19:1397407 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.167C>T (p.Ala56Val) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000655361]|Deficiency of guanidinoacetate methyltransferase [RCV002060782] Chr19:1401310 [GRCh38]
Chr19:1401309 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.472C>T (p.Arg158Cys) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000655362]|Deficiency of guanidinoacetate methyltransferase [RCV001835058]|not provided [RCV004692053] Chr19:1399014 [GRCh38]
Chr19:1399013 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.407C>T (p.Thr136Met) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000655363]|Deficiency of guanidinoacetate methyltransferase [RCV001253217]|not provided [RCV001566324] Chr19:1399180 [GRCh38]
Chr19:1399179 [GRCh37]
Chr19:19p13.3		 pathogenic|likely pathogenic|uncertain significance
NM_000156.6(GAMT):c.530T>G (p.Leu177Arg) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000655364] Chr19:1398956 [GRCh38]
Chr19:1398955 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.391+15G>T single nucleotide variant Cerebral creatine deficiency syndrome [RCV000655365]|not specified [RCV002298720] Chr19:1399509 [GRCh38]
Chr19:1399508 [GRCh37]
Chr19:19p13.3		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000156.6(GAMT):c.462C>G (p.Asn154Lys) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000655366]|Deficiency of guanidinoacetate methyltransferase [RCV001829817]|not provided [RCV001766428] Chr19:1399024 [GRCh38]
Chr19:1399023 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.622C>T (p.Arg208Cys) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000655369]|Deficiency of guanidinoacetate methyltransferase [RCV001124344] Chr19:1397448 [GRCh38]
Chr19:1397447 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.426G>A (p.Glu142=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000655371] Chr19:1399161 [GRCh38]
Chr19:1399160 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.39C>A (p.Gly13=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000655372]|Deficiency of guanidinoacetate methyltransferase [RCV002305525]|Inborn genetic diseases [RCV002352066] Chr19:1401438 [GRCh38]
Chr19:1401437 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.-8C>G single nucleotide variant not specified [RCV000609293] Chr19:1401484 [GRCh38]
Chr19:1401483 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.315G>A (p.Arg105=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001410989]|Deficiency of guanidinoacetate methyltransferase [RCV001127001]|not specified [RCV000599783] Chr19:1399805 [GRCh38]
Chr19:1399804 [GRCh37]
Chr19:19p13.3		 likely benign|uncertain significance
NM_000156.6(GAMT):c.181+9C>G single nucleotide variant Cerebral creatine deficiency syndrome [RCV001451621]|not specified [RCV000602138] Chr19:1401287 [GRCh38]
Chr19:1401286 [GRCh37]
Chr19:19p13.3		 likely benign
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
NM_000156.6(GAMT):c.529C>G (p.Leu177Val) single nucleotide variant not provided [RCV000658429] Chr19:1398957 [GRCh38]
Chr19:1398956 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.623G>A (p.Arg208His) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000700249]|Deficiency of guanidinoacetate methyltransferase [RCV001835926]|Inborn genetic diseases [RCV002360795] Chr19:1397447 [GRCh38]
Chr19:1397446 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3(chr19:715724-1438636)x3 copy number gain not provided [RCV000684086] Chr19:715724..1438636 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3(chr19:260911-3200875)x3 copy number gain not provided [RCV000684094] Chr19:260911..3200875 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_000156.6(GAMT):c.150G>A (p.Met50Ile) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000685923]|not provided [RCV001815371] Chr19:1401327 [GRCh38]
Chr19:1401326 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.316C>T (p.Gln106Ter) single nucleotide variant Abnormality of the nervous system [RCV001814217]|Cerebral creatine deficiency syndrome [RCV000686487]|Deficiency of guanidinoacetate methyltransferase [RCV001553736]|not provided [RCV000986200] Chr19:1399804 [GRCh38]
Chr19:1399803 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_000156.6(GAMT):c.570+4C>T single nucleotide variant Cerebral creatine deficiency syndrome [RCV000706678]|Deficiency of guanidinoacetate methyltransferase [RCV001272269]|Inborn genetic diseases [RCV002343573]|not provided [RCV001613434] Chr19:1398912 [GRCh38]
Chr19:1398911 [GRCh37]
Chr19:19p13.3		 benign|uncertain significance
NM_000156.6(GAMT):c.463C>T (p.His155Tyr) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000690102] Chr19:1399023 [GRCh38]
Chr19:1399022 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.403G>A (p.Asp135Asn) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000694724]|Deficiency of guanidinoacetate methyltransferase [RCV001784322] Chr19:1399184 [GRCh38]
Chr19:1399183 [GRCh37]
Chr19:19p13.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000156.6(GAMT):c.415C>T (p.Leu139Phe) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000693034]|Deficiency of guanidinoacetate methyltransferase [RCV001830513] Chr19:1399172 [GRCh38]
Chr19:1399171 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.465C>T (p.His155=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001464882]|Inborn genetic diseases [RCV002314491] Chr19:1399021 [GRCh38]
Chr19:1399020 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.165C>A (p.Ala55=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000690573]|Deficiency of guanidinoacetate methyltransferase [RCV001830504] Chr19:1401312 [GRCh38]
Chr19:1401311 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.179A>G (p.Lys60Arg) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000689355]|Deficiency of guanidinoacetate methyltransferase [RCV001830498] Chr19:1401298 [GRCh38]
Chr19:1401297 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.594G>A (p.Leu198=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000692504] Chr19:1397476 [GRCh38]
Chr19:1397475 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.119C>T (p.Pro40Leu) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000689882] Chr19:1401358 [GRCh38]
Chr19:1401357 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.562A>G (p.Met188Val) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000694449] Chr19:1398924 [GRCh38]
Chr19:1398923 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.219C>T (p.Ile73=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000975898]|GAMT-related disorder [RCV003938075]|Inborn genetic diseases [RCV002315321]|not provided [RCV001731907] Chr19:1399901 [GRCh38]
Chr19:1399900 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.59G>T (p.Trp20Leu) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001051211]|Deficiency of guanidinoacetate methyltransferase [RCV003334006]|Inborn genetic diseases [RCV002313571]|not specified [RCV002307606] Chr19:1401418 [GRCh38]
Chr19:1401417 [GRCh37]
Chr19:19p13.3		 likely pathogenic|uncertain significance
NM_000156.6(GAMT):c.464A>T (p.His155Leu) single nucleotide variant Cerebral creatine deficiency syndrome [RCV002534582]|Inborn genetic diseases [RCV002318014] Chr19:1399022 [GRCh38]
Chr19:1399021 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.384C>T (p.His128=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001436765]|Inborn genetic diseases [RCV002318154]|not provided [RCV003424310] Chr19:1399531 [GRCh38]
Chr19:1399530 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.122T>C (p.Val41Ala) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001862077]|Inborn genetic diseases [RCV002317591] Chr19:1401355 [GRCh38]
Chr19:1401354 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3(chr19:1119019-1451274)x1 copy number loss not provided [RCV000739953] Chr19:1119019..1451274 [GRCh37]
Chr19:19p13.3		 pathogenic
GRCh37/hg19 19p13.3(chr19:1396462-1488242)x3 copy number gain not provided [RCV000739964] Chr19:1396462..1488242 [GRCh37]
Chr19:19p13.3		 benign
GRCh37/hg19 19p13.3(chr19:1396462-1489817)x3 copy number gain not provided [RCV000739965] Chr19:1396462..1489817 [GRCh37]
Chr19:19p13.3		 benign
GRCh37/hg19 19p13.3(chr19:1396462-1489895)x3 copy number gain not provided [RCV000739966] Chr19:1396462..1489895 [GRCh37]
Chr19:19p13.3		 benign
GRCh37/hg19 19p13.3(chr19:1397488-1488242)x3 copy number gain not provided [RCV000739967] Chr19:1397488..1488242 [GRCh37]
Chr19:19p13.3		 benign
GRCh37/hg19 19p13.3(chr19:1397488-1488257)x3 copy number gain not provided [RCV000739968] Chr19:1397488..1488257 [GRCh37]
Chr19:19p13.3		 benign
GRCh37/hg19 19p13.3(chr19:1397488-1489817)x3 copy number gain not provided [RCV000739969] Chr19:1397488..1489817 [GRCh37]
Chr19:19p13.3		 benign
GRCh37/hg19 19p13.3(chr19:1397488-1490703)x3 copy number gain not provided [RCV000739970] Chr19:1397488..1490703 [GRCh37]
Chr19:19p13.3		 benign
GRCh37/hg19 19p13.3(chr19:1398782-1488242)x3 copy number gain not provided [RCV000739971] Chr19:1398782..1488242 [GRCh37]
Chr19:19p13.3		 benign
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3(chr19:1398782-1488257)x3 copy number gain not provided [RCV000739972] Chr19:1398782..1488257 [GRCh37]
Chr19:19p13.3		 benign
GRCh37/hg19 19p13.3(chr19:1401345-1488257)x3 copy number gain not provided [RCV000739973] Chr19:1401345..1488257 [GRCh37]
Chr19:19p13.3		 benign
NM_000156.6(GAMT):c.145del (p.Tyr49fs) deletion Cerebral creatine deficiency syndrome [RCV001766770]|Deficiency of guanidinoacetate methyltransferase [RCV000857223] Chr19:1401332 [GRCh38]
Chr19:1401331 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_000156.6(GAMT):c.570+304del deletion not provided [RCV001692519] Chr19:1398612 [GRCh38]
Chr19:1398611 [GRCh37]
Chr19:19p13.3		 benign
NM_000156.6(GAMT):c.392-9T>G single nucleotide variant Cerebral creatine deficiency syndrome [RCV001065097]|Deficiency of guanidinoacetate methyltransferase [RCV001833633] Chr19:1399204 [GRCh38]
Chr19:1399203 [GRCh37]
Chr19:19p13.3		 likely benign|uncertain significance
NM_000156.6(GAMT):c.564G>T (p.Met188Ile) single nucleotide variant Deficiency of guanidinoacetate methyltransferase [RCV003307395] Chr19:1398922 [GRCh38]
Chr19:1398921 [GRCh37]
Chr19:19p13.3		 likely pathogenic
NM_000156.6(GAMT):c.590T>C (p.Leu197Pro) single nucleotide variant Deficiency of guanidinoacetate methyltransferase [RCV003307397] Chr19:1397480 [GRCh38]
Chr19:1397479 [GRCh37]
Chr19:19p13.3		 likely pathogenic
NM_000156.6(GAMT):c.595dup (p.Glu199fs) duplication Deficiency of guanidinoacetate methyltransferase [RCV003307398] Chr19:1397474..1397475 [GRCh38]
Chr19:1397473..1397474 [GRCh37]
Chr19:19p13.3		 likely pathogenic
NM_000156.6(GAMT):c.491del (p.Gly164fs) deletion Cerebral creatine deficiency syndrome [RCV001766818]|Deficiency of guanidinoacetate methyltransferase [RCV001030778]|not provided [RCV002255172] Chr19:1398995 [GRCh38]
Chr19:1398994 [GRCh37]
Chr19:19p13.3		 pathogenic
GRCh37/hg19 19p13.3(chr19:423160-1429367)x3 copy number gain not provided [RCV000752449] Chr19:423160..1429367 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.392-1G>A single nucleotide variant Cerebral creatine deficiency syndrome [RCV003746569]|not provided [RCV000986199] Chr19:1399196 [GRCh38]
Chr19:1399195 [GRCh37]
Chr19:19p13.3		 pathogenic|likely pathogenic
NM_000156.6(GAMT):c.675C>T (p.Phe225=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV002066042] Chr19:1397395 [GRCh38]
Chr19:1397394 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.408G>A (p.Thr136=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001465701]|Deficiency of guanidinoacetate methyltransferase [RCV002305554] Chr19:1399179 [GRCh38]
Chr19:1399178 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.201G>A (p.Val67=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000869109]|Deficiency of guanidinoacetate methyltransferase [RCV001275207] Chr19:1399919 [GRCh38]
Chr19:1399918 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.46T>G (p.Cys16Gly) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001061889]|Deficiency of guanidinoacetate methyltransferase [RCV001827392] Chr19:1401431 [GRCh38]
Chr19:1401430 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.183G>T (p.Gly61=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001049867] Chr19:1399937 [GRCh38]
Chr19:1399936 [GRCh37]
Chr19:19p13.3		 uncertain significance
NC_000019.9:g.(?_589926)_(1401495_?)dup duplication Cerebral creatine deficiency syndrome [RCV001032652] Chr19:589926..1401495 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.440_441del (p.His147fs) microsatellite Cerebral creatine deficiency syndrome [RCV001060114]|Deficiency of guanidinoacetate methyltransferase [RCV004596401] Chr19:1399146..1399147 [GRCh38]
Chr19:1399145..1399146 [GRCh37]
Chr19:19p13.3		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000156.6(GAMT):c.170C>T (p.Ala57Val) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001036364] Chr19:1401307 [GRCh38]
Chr19:1401306 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.513C>T (p.Leu171=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001466758] Chr19:1398973 [GRCh38]
Chr19:1398972 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.42G>A (p.Glu14=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000983723] Chr19:1401435 [GRCh38]
Chr19:1401434 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.529C>T (p.Leu177=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000877152]|Inborn genetic diseases [RCV002346034] Chr19:1398957 [GRCh38]
Chr19:1398956 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.627G>A (p.Thr209=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000868301] Chr19:1397443 [GRCh38]
Chr19:1397442 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.392-6G>A single nucleotide variant Cerebral creatine deficiency syndrome [RCV000944268]|GAMT-related disorder [RCV003925848] Chr19:1399201 [GRCh38]
Chr19:1399200 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.58dup (p.Trp20fs) duplication Deficiency of guanidinoacetate methyltransferase [RCV003307396] Chr19:1401418..1401419 [GRCh38]
Chr19:1401417..1401418 [GRCh37]
Chr19:19p13.3		 pathogenic
GRCh37/hg19 19p13.3(chr19:260911-2256387)x3 copy number gain See cases [RCV002285065] Chr19:260911..2256387 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_000156.6(GAMT):c.288C>G (p.Phe96Leu) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000809163] Chr19:1399832 [GRCh38]
Chr19:1399831 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.172TCC[3] (p.Ser59dup) microsatellite Cerebral creatine deficiency syndrome [RCV000793456]|Deficiency of guanidinoacetate methyltransferase [RCV001830695]|Inborn genetic diseases [RCV002536964]|not provided [RCV004588252]|not specified [RCV003479219] Chr19:1401299..1401300 [GRCh38]
Chr19:1401298..1401299 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.570+5G>A single nucleotide variant Cerebral creatine deficiency syndrome [RCV000794003]|Deficiency of guanidinoacetate methyltransferase [RCV001830699]|GAMT-related disorder [RCV003918271]|Inborn genetic diseases [RCV002343655]|not provided [RCV001585712] Chr19:1398911 [GRCh38]
Chr19:1398910 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.391+3G>A single nucleotide variant Cerebral creatine deficiency syndrome [RCV000797694] Chr19:1399521 [GRCh38]
Chr19:1399520 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.131G>C (p.Arg44Pro) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000814680] Chr19:1401346 [GRCh38]
Chr19:1401345 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.571-60C>T single nucleotide variant not provided [RCV000829923] Chr19:1397559 [GRCh38]
Chr19:1397558 [GRCh37]
Chr19:19p13.3		 benign
NM_000156.6(GAMT):c.182-265_182-228del deletion Deficiency of guanidinoacetate methyltransferase [RCV002305549]|not provided [RCV000833544] Chr19:1400166..1400203 [GRCh38]
Chr19:1400165..1400202 [GRCh37]
Chr19:19p13.3		 benign
NM_000156.6(GAMT):c.391+160A>T single nucleotide variant not provided [RCV000837205] Chr19:1399364 [GRCh38]
Chr19:1399363 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.509A>C (p.Asn170Thr) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000822400]|Deficiency of guanidinoacetate methyltransferase [RCV001830817] Chr19:1398977 [GRCh38]
Chr19:1398976 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.311C>T (p.Pro104Leu) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000812252]|Deficiency of guanidinoacetate methyltransferase [RCV001825626]|not specified [RCV004526033] Chr19:1399809 [GRCh38]
Chr19:1399808 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.460-7T>G single nucleotide variant Cerebral creatine deficiency syndrome [RCV000820798]|Deficiency of guanidinoacetate methyltransferase [RCV001272271] Chr19:1399033 [GRCh38]
Chr19:1399032 [GRCh37]
Chr19:19p13.3		 likely benign|uncertain significance
NM_000156.6(GAMT):c.220G>A (p.Ala74Thr) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000806501]|Deficiency of guanidinoacetate methyltransferase [RCV001830754] Chr19:1399900 [GRCh38]
Chr19:1399899 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.583C>G (p.Pro195Ala) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000813351]|Deficiency of guanidinoacetate methyltransferase [RCV001272268] Chr19:1397487 [GRCh38]
Chr19:1397486 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.391+1G>C single nucleotide variant Cerebral creatine deficiency syndrome [RCV000822144]|Deficiency of guanidinoacetate methyltransferase [RCV002305546] Chr19:1399523 [GRCh38]
Chr19:1399522 [GRCh37]
Chr19:19p13.3		 likely pathogenic
NM_000156.6(GAMT):c.282C>T (p.Gly94=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000798605]|Deficiency of guanidinoacetate methyltransferase [RCV001825573]|not provided [RCV003884732] Chr19:1399838 [GRCh38]
Chr19:1399837 [GRCh37]
Chr19:19p13.3		 likely benign|uncertain significance
NM_000156.6(GAMT):c.470T>G (p.Phe157Cys) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000805230]|Deficiency of guanidinoacetate methyltransferase [RCV001275203] Chr19:1399016 [GRCh38]
Chr19:1399015 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.105C>T (p.Arg35=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001490178] Chr19:1401372 [GRCh38]
Chr19:1401371 [GRCh37]
Chr19:19p13.3		 likely benign
GRCh37/hg19 19p13.3(chr19:1342624-1817866)x3 copy number gain not provided [RCV000846077] Chr19:1342624..1817866 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.268G>A (p.Glu90Lys) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001325103]|Deficiency of guanidinoacetate methyltransferase [RCV003159182]|Inborn genetic diseases [RCV002558719]|not provided [RCV001171628]|not specified [RCV002307689] Chr19:1399852 [GRCh38]
Chr19:1399851 [GRCh37]
Chr19:19p13.3		 pathogenic|uncertain significance
NM_000156.6(GAMT):c.586G>A (p.Ala196Thr) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001247143]|Deficiency of guanidinoacetate methyltransferase [RCV001835290] Chr19:1397484 [GRCh38]
Chr19:1397483 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.560T>C (p.Ile187Thr) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001247587]|Deficiency of guanidinoacetate methyltransferase [RCV001835299] Chr19:1398926 [GRCh38]
Chr19:1398925 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.354G>C (p.Glu118Asp) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001231201] Chr19:1399561 [GRCh38]
Chr19:1399560 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.347T>G (p.Leu116Arg) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001223725]|Deficiency of guanidinoacetate methyltransferase [RCV001833939] Chr19:1399568 [GRCh38]
Chr19:1399567 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.91_92insCACGG (p.Asp31fs) insertion Cerebral creatine deficiency syndrome [RCV001209481]|Deficiency of guanidinoacetate methyltransferase [RCV001780120] Chr19:1401385..1401386 [GRCh38]
Chr19:1401384..1401385 [GRCh37]
Chr19:19p13.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000156.6(GAMT):c.106A>G (p.Ile36Val) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001241167]|Deficiency of guanidinoacetate methyltransferase [RCV001836209] Chr19:1401371 [GRCh38]
Chr19:1401370 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.280G>A (p.Gly94Ser) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001239812]|Deficiency of guanidinoacetate methyltransferase [RCV001828940]|Inborn genetic diseases [RCV004034627] Chr19:1399840 [GRCh38]
Chr19:1399839 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.521G>T (p.Trp174Leu) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001240673]|Deficiency of guanidinoacetate methyltransferase [RCV001828958] Chr19:1398965 [GRCh38]
Chr19:1398964 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.3G>A (p.Met1Ile) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001211804] Chr19:1401474 [GRCh38]
Chr19:1401473 [GRCh37]
Chr19:19p13.3		 pathogenic|likely pathogenic
NM_000156.6(GAMT):c.327+5C>T single nucleotide variant Cerebral creatine deficiency syndrome [RCV001235847]|Deficiency of guanidinoacetate methyltransferase [RCV001834049] Chr19:1399788 [GRCh38]
Chr19:1399787 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.170C>A (p.Ala57Asp) single nucleotide variant Deficiency of guanidinoacetate methyltransferase [RCV003159289] Chr19:1401307 [GRCh38]
Chr19:1401306 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3(chr19:260911-4788357)x3 copy number gain not provided [RCV000846988] Chr19:260911..4788357 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_000156.6(GAMT):c.41A>G (p.Glu14Gly) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001211051]|Deficiency of guanidinoacetate methyltransferase [RCV001828685]|Inborn genetic diseases [RCV002561749] Chr19:1401436 [GRCh38]
Chr19:1401435 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.505T>C (p.Cys169Arg) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001860605]|Deficiency of guanidinoacetate methyltransferase [RCV001009565]|not specified [RCV003490008] Chr19:1398981 [GRCh38]
Chr19:1398980 [GRCh37]
Chr19:19p13.3		 pathogenic|likely pathogenic|uncertain significance|not provided
NC_000019.9:g.(?_589946)_(4818389_?)dup duplication not provided [RCV003105391] Chr19:589946..4818389 [GRCh37]
Chr19:19p13.3		 uncertain significance
NC_000019.9:g.(?_589946)_(2151333_?)dup duplication Cyclical neutropenia [RCV003107569] Chr19:589946..2151333 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.313_314insTG (p.Arg105fs) insertion Deficiency of guanidinoacetate methyltransferase [RCV001542501] Chr19:1399806..1399807 [GRCh38]
Chr19:1399805..1399806 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_000156.6(GAMT):c.391+47A>G single nucleotide variant Deficiency of guanidinoacetate methyltransferase [RCV001542969]|not provided [RCV001647383] Chr19:1399477 [GRCh38]
Chr19:1399476 [GRCh37]
Chr19:19p13.3		 benign
NM_000156.6(GAMT):c.570+244T>C single nucleotide variant not provided [RCV001654279] Chr19:1398672 [GRCh38]
Chr19:1398671 [GRCh37]
Chr19:19p13.3		 benign
NM_000156.6(GAMT):c.36C>G (p.Pro12=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000907062] Chr19:1401441 [GRCh38]
Chr19:1401440 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.54C>T (p.Pro18=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000862841]|Deficiency of guanidinoacetate methyltransferase [RCV002305553]|GAMT-related disorder [RCV003938229] Chr19:1401423 [GRCh38]
Chr19:1401422 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.218T>C (p.Ile73Thr) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001210500] Chr19:1399902 [GRCh38]
Chr19:1399901 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.283G>A (p.Val95Ile) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001240165]|Deficiency of guanidinoacetate methyltransferase [RCV001828947] Chr19:1399837 [GRCh38]
Chr19:1399836 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.521G>A (p.Trp174Ter) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001386710]|Deficiency of guanidinoacetate methyltransferase [RCV001827125]|not provided [RCV000986197] Chr19:1398965 [GRCh38]
Chr19:1398964 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_000156.6(GAMT):c.467C>A (p.Ala156Asp) single nucleotide variant not provided [RCV000986198]|not specified [RCV002282415] Chr19:1399019 [GRCh38]
Chr19:1399018 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.570+550C>T single nucleotide variant not provided [RCV001563079] Chr19:1398366 [GRCh38]
Chr19:1398365 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.577C>T (p.Gln193Ter) single nucleotide variant Deficiency of guanidinoacetate methyltransferase [RCV003230881] Chr19:1397493 [GRCh38]
Chr19:1397492 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_000156.6(GAMT):c.182-39G>A single nucleotide variant not provided [RCV001552890] Chr19:1399977 [GRCh38]
Chr19:1399976 [GRCh37]
Chr19:19p13.3		 likely benign
GRCh37/hg19 19p13.3(chr19:1205244-1479188)x1 copy number loss not provided [RCV002472605] Chr19:1205244..1479188 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_000156.6(GAMT):c.543G>A (p.Lys181=) single nucleotide variant not provided [RCV001596524] Chr19:1398943 [GRCh38]
Chr19:1398942 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.570+472GAAA[7] microsatellite not provided [RCV001689333] Chr19:1398420..1398421 [GRCh38]
Chr19:1398419..1398420 [GRCh37]
Chr19:19p13.3		 benign
NC_000019.10:g.1401680C>T single nucleotide variant not provided [RCV001595847] Chr19:1401680 [GRCh38]
Chr19:1401679 [GRCh37]
Chr19:19p13.3		 benign
NM_000156.6(GAMT):c.182-173G>A single nucleotide variant not provided [RCV001618155] Chr19:1400111 [GRCh38]
Chr19:1400110 [GRCh37]
Chr19:19p13.3		 benign
NM_000156.6(GAMT):c.327+69T>G single nucleotide variant not provided [RCV001695354] Chr19:1399724 [GRCh38]
Chr19:1399723 [GRCh37]
Chr19:19p13.3		 benign
NM_000156.6(GAMT):c.226T>C (p.Ser76Pro) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001071213] Chr19:1399894 [GRCh38]
Chr19:1399893 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.570+5G>T single nucleotide variant Cerebral creatine deficiency syndrome [RCV001065911]|Deficiency of guanidinoacetate methyltransferase [RCV001275201] Chr19:1398911 [GRCh38]
Chr19:1398910 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.*292C>T single nucleotide variant Deficiency of guanidinoacetate methyltransferase [RCV001127324] Chr19:1397067 [GRCh38]
Chr19:1397066 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.*239C>T single nucleotide variant Deficiency of guanidinoacetate methyltransferase [RCV001127325] Chr19:1397120 [GRCh38]
Chr19:1397119 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.182-308A>G single nucleotide variant not provided [RCV001685189] Chr19:1400246 [GRCh38]
Chr19:1400245 [GRCh37]
Chr19:19p13.3		 benign
NM_000156.6(GAMT):c.328-1G>A single nucleotide variant Cerebral creatine deficiency syndrome [RCV001047942]|Deficiency of guanidinoacetate methyltransferase [RCV001832448] Chr19:1399588 [GRCh38]
Chr19:1399587 [GRCh37]
Chr19:19p13.3		 likely pathogenic|conflicting interpretations of pathogenicity
NM_000156.6(GAMT):c.356A>G (p.Asp119Gly) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001070101] Chr19:1399559 [GRCh38]
Chr19:1399558 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.181+112C>T single nucleotide variant not provided [RCV001585062] Chr19:1401184 [GRCh38]
Chr19:1401183 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.301del (p.Asp101fs) deletion Cerebral creatine deficiency syndrome [RCV001059955]|Deficiency of guanidinoacetate methyltransferase [RCV003467804] Chr19:1399819 [GRCh38]
Chr19:1399818 [GRCh37]
Chr19:19p13.3		 pathogenic|likely pathogenic
NM_000156.6(GAMT):c.39C>T (p.Gly13=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001041865] Chr19:1401438 [GRCh38]
Chr19:1401437 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.5(GAMT):c.-79G>A single nucleotide variant Deficiency of guanidinoacetate methyltransferase [RCV001123347] Chr19:1401555 [GRCh38]
Chr19:1401554 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.571-3C>G single nucleotide variant Cerebral creatine deficiency syndrome [RCV001208584] Chr19:1397502 [GRCh38]
Chr19:1397501 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.261G>A (p.Trp87Ter) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001053709]|Deficiency of guanidinoacetate methyltransferase [RCV003159176] Chr19:1399859 [GRCh38]
Chr19:1399858 [GRCh37]
Chr19:19p13.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000156.6(GAMT):c.523G>T (p.Gly175Trp) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001058220] Chr19:1398963 [GRCh38]
Chr19:1398962 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.24del (p.Ile9fs) deletion Cerebral creatine deficiency syndrome [RCV001054392]|Deficiency of guanidinoacetate methyltransferase [RCV003467775]|GAMT-related disorder [RCV003413863]|Inborn genetic diseases [RCV002429662]|not provided [RCV003313176] Chr19:1401453 [GRCh38]
Chr19:1401452 [GRCh37]
Chr19:19p13.3		 pathogenic|likely pathogenic
NM_000156.6(GAMT):c.328-2A>G single nucleotide variant Cerebral creatine deficiency syndrome [RCV001059066]|Deficiency of guanidinoacetate methyltransferase [RCV003482159] Chr19:1399589 [GRCh38]
Chr19:1399588 [GRCh37]
Chr19:19p13.3		 pathogenic|likely pathogenic
NM_000156.6(GAMT):c.402C>G (p.Tyr134Ter) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001218543]|Deficiency of guanidinoacetate methyltransferase [RCV001780138] Chr19:1399185 [GRCh38]
Chr19:1399184 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_000156.6(GAMT):c.11_36dup (p.Gly13fs) duplication Cerebral creatine deficiency syndrome [RCV001064338]|Deficiency of guanidinoacetate methyltransferase [RCV001827416] Chr19:1401440..1401441 [GRCh38]
Chr19:1401439..1401440 [GRCh37]
Chr19:19p13.3		 pathogenic
GRCh37/hg19 19p13.3(chr19:260911-3501271)x3 copy number gain not provided [RCV001007025] Chr19:260911..3501271 [GRCh37]
Chr19:19p13.3		 pathogenic
GRCh37/hg19 19p13.3(chr19:1075192-2256387)x3 copy number gain not provided [RCV001007026] Chr19:1075192..2256387 [GRCh37]
Chr19:19p13.3		 likely pathogenic
GRCh37/hg19 19p13.3(chr19:260912-4384674)x3 copy number gain See cases [RCV001007443] Chr19:260912..4384674 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_000156.6(GAMT):c.*136C>A single nucleotide variant Deficiency of guanidinoacetate methyltransferase [RCV001123240] Chr19:1397223 [GRCh38]
Chr19:1397222 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.*69G>A single nucleotide variant Deficiency of guanidinoacetate methyltransferase [RCV001123243]|not provided [RCV004694767] Chr19:1397290 [GRCh38]
Chr19:1397289 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.372G>A (p.Leu124=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001459474]|Deficiency of guanidinoacetate methyltransferase [RCV001127000] Chr19:1399543 [GRCh38]
Chr19:1399542 [GRCh37]
Chr19:19p13.3		 likely benign|uncertain significance
NM_000156.6(GAMT):c.*116C>T single nucleotide variant Deficiency of guanidinoacetate methyltransferase [RCV001123241] Chr19:1397243 [GRCh38]
Chr19:1397242 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.*89C>A single nucleotide variant Deficiency of guanidinoacetate methyltransferase [RCV001123242]|not provided [RCV001585992] Chr19:1397270 [GRCh38]
Chr19:1397269 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.182-2A>G single nucleotide variant Cerebral creatine deficiency syndrome [RCV001055959]|Deficiency of guanidinoacetate methyltransferase [RCV003467780] Chr19:1399940 [GRCh38]
Chr19:1399939 [GRCh37]
Chr19:19p13.3		 pathogenic|likely pathogenic
NM_000156.6(GAMT):c.638C>T (p.Ala213Val) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001246130]|Deficiency of guanidinoacetate methyltransferase [RCV001829978] Chr19:1397432 [GRCh38]
Chr19:1397431 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.392-2A>G single nucleotide variant Cerebral creatine deficiency syndrome [RCV001879840]|Deficiency of guanidinoacetate methyltransferase [RCV002222687]|Intellectual disability [RCV001251993] Chr19:1399197 [GRCh38]
Chr19:1399196 [GRCh37]
Chr19:19p13.3		 likely pathogenic|likely benign
NM_000156.6(GAMT):c.437C>G (p.Thr146Arg) single nucleotide variant Seizure [RCV001256148] Chr19:1399150 [GRCh38]
Chr19:1399149 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.385T>G (p.Phe129Val) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001889601] Chr19:1399530 [GRCh38]
Chr19:1399529 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.442dup (p.Gln148fs) duplication Cerebral creatine deficiency syndrome [RCV003746586]|Deficiency of guanidinoacetate methyltransferase [RCV001262463] Chr19:1399144..1399145 [GRCh38]
Chr19:1399143..1399144 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_000156.6(GAMT):c.232G>A (p.Val78Met) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001351021] Chr19:1399888 [GRCh38]
Chr19:1399887 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.463C>G (p.His155Asp) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001320563]|Deficiency of guanidinoacetate methyltransferase [RCV001830342] Chr19:1399023 [GRCh38]
Chr19:1399022 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.250G>C (p.Asp84His) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001297935] Chr19:1399870 [GRCh38]
Chr19:1399869 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.141C>G (p.Thr47=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001433357] Chr19:1401336 [GRCh38]
Chr19:1401335 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.36C>T (p.Pro12=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001415137] Chr19:1401441 [GRCh38]
Chr19:1401440 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.147T>C (p.Tyr49=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001415140] Chr19:1401330 [GRCh38]
Chr19:1401329 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.531G>A (p.Leu177=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001392098] Chr19:1398955 [GRCh38]
Chr19:1398954 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.649C>G (p.Pro217Ala) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001297772] Chr19:1397421 [GRCh38]
Chr19:1397420 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.576G>A (p.Thr192=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001397023] Chr19:1397494 [GRCh38]
Chr19:1397493 [GRCh37]
Chr19:19p13.3		 likely benign
NC_000019.9:g.(?_589926)_(1401495_?)dup duplication Cerebral creatine deficiency syndrome [RCV001307813] Chr19:589926..1401495 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.115A>C (p.Lys39Gln) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001359569] Chr19:1401362 [GRCh38]
Chr19:1401361 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.356dup (p.Asp119fs) duplication Cerebral creatine deficiency syndrome [RCV001383246]|Deficiency of guanidinoacetate methyltransferase [RCV003462990] Chr19:1399558..1399559 [GRCh38]
Chr19:1399557..1399558 [GRCh37]
Chr19:19p13.3		 pathogenic|likely pathogenic
NM_000156.6(GAMT):c.8C>T (p.Ala3Val) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001373781]|Inborn genetic diseases [RCV002377557] Chr19:1401469 [GRCh38]
Chr19:1401468 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.389A>C (p.Asp130Ala) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001346391] Chr19:1399526 [GRCh38]
Chr19:1399525 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.493G>A (p.Val165Ile) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001322836]|Deficiency of guanidinoacetate methyltransferase [RCV001830348]|not provided [RCV001806121] Chr19:1398993 [GRCh38]
Chr19:1398992 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.85G>A (p.Ala29Thr) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001364766] Chr19:1401392 [GRCh38]
Chr19:1401391 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.563T>A (p.Met188Lys) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001371880] Chr19:1398923 [GRCh38]
Chr19:1398922 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.651G>A (p.Pro217=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001361130]|not provided [RCV001685352] Chr19:1397419 [GRCh38]
Chr19:1397418 [GRCh37]
Chr19:19p13.3		 likely benign|uncertain significance
NM_000156.6(GAMT):c.182-3_182dup duplication Deficiency of guanidinoacetate methyltransferase [RCV001336702] Chr19:1399937..1399938 [GRCh38]
Chr19:1399936..1399937 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.308C>T (p.Ala103Val) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001305979] Chr19:1399812 [GRCh38]
Chr19:1399811 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.484C>T (p.Pro162Ser) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001314037] Chr19:1399002 [GRCh38]
Chr19:1399001 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.650C>A (p.Pro217Gln) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001322446]|Deficiency of guanidinoacetate methyltransferase [RCV001830346] Chr19:1397420 [GRCh38]
Chr19:1397419 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.324C>A (p.His108Gln) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001304672] Chr19:1399796 [GRCh38]
Chr19:1399795 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.347T>A (p.Leu116Gln) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001323766] Chr19:1399568 [GRCh38]
Chr19:1399567 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.187C>T (p.Arg63Trp) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001295492]|Deficiency of guanidinoacetate methyltransferase [RCV001830125]|Inborn genetic diseases [RCV004035647] Chr19:1399933 [GRCh38]
Chr19:1399932 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.537G>A (p.Lys179=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001414079] Chr19:1398949 [GRCh38]
Chr19:1398948 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.243G>A (p.Ala81=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001394896] Chr19:1399877 [GRCh38]
Chr19:1399876 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.154G>A (p.Ala52Thr) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001368464]|not provided [RCV001532365] Chr19:1401323 [GRCh38]
Chr19:1401322 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.207T>C (p.Phe69=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001494232] Chr19:1399913 [GRCh38]
Chr19:1399912 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.96G>A (p.Thr32=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001486541] Chr19:1401381 [GRCh38]
Chr19:1401380 [GRCh37]
Chr19:19p13.3		 likely benign
NC_000019.9:g.(?_1387800)_(1401485_?)del deletion Cerebral creatine deficiency syndrome [RCV001382174] Chr19:1387800..1401485 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_000156.6(GAMT):c.195G>A (p.Leu65=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001468160] Chr19:1399925 [GRCh38]
Chr19:1399924 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.33G>T (p.Ala11=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001484571] Chr19:1401444 [GRCh38]
Chr19:1401443 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.392-6G>C single nucleotide variant Cerebral creatine deficiency syndrome [RCV001476436] Chr19:1399201 [GRCh38]
Chr19:1399200 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.391+8G>C single nucleotide variant Cerebral creatine deficiency syndrome [RCV001506411] Chr19:1399516 [GRCh38]
Chr19:1399515 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.540C>T (p.Ser180=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001475390] Chr19:1398946 [GRCh38]
Chr19:1398945 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.588G>T (p.Ala196=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001462027] Chr19:1397482 [GRCh38]
Chr19:1397481 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.339G>A (p.Leu113=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001423481] Chr19:1399576 [GRCh38]
Chr19:1399575 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.198G>A (p.Glu66=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001467360] Chr19:1399922 [GRCh38]
Chr19:1399921 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.615G>A (p.Glu205=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001474825] Chr19:1397455 [GRCh38]
Chr19:1397454 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.33G>A (p.Ala11=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001469197] Chr19:1401444 [GRCh38]
Chr19:1401443 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.571-6G>C single nucleotide variant Cerebral creatine deficiency syndrome [RCV001416761] Chr19:1397505 [GRCh38]
Chr19:1397504 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.391+9_391+15del microsatellite Cerebral creatine deficiency syndrome [RCV001411821] Chr19:1399509..1399515 [GRCh38]
Chr19:1399508..1399514 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.144dup (p.Tyr49fs) duplication Cerebral creatine deficiency syndrome [RCV001382287] Chr19:1401332..1401333 [GRCh38]
Chr19:1401331..1401332 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_000156.6(GAMT):c.289C>T (p.Gln97Ter) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001389319]|Deficiency of guanidinoacetate methyltransferase [RCV003469756] Chr19:1399831 [GRCh38]
Chr19:1399830 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_000156.6(GAMT):c.327+1G>T single nucleotide variant Cerebral creatine deficiency syndrome [RCV001377759]|Deficiency of guanidinoacetate methyltransferase [RCV003469631] Chr19:1399792 [GRCh38]
Chr19:1399791 [GRCh37]
Chr19:19p13.3		 likely pathogenic
NM_000156.6(GAMT):c.462C>T (p.Asn154=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001446270] Chr19:1399024 [GRCh38]
Chr19:1399023 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.690G>A (p.Thr230=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001420065] Chr19:1397380 [GRCh38]
Chr19:1397379 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.162C>T (p.Ala54=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001428889] Chr19:1401315 [GRCh38]
Chr19:1401314 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.429C>G (p.Thr143=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001432694] Chr19:1399158 [GRCh38]
Chr19:1399157 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.516C>A (p.Thr172=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001424905] Chr19:1398970 [GRCh38]
Chr19:1398969 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.526del (p.Glu176fs) deletion Cerebral creatine deficiency syndrome [RCV001379333]|Deficiency of guanidinoacetate methyltransferase [RCV003298627] Chr19:1398960 [GRCh38]
Chr19:1398959 [GRCh37]
Chr19:19p13.3		 pathogenic|likely pathogenic
NM_000156.6(GAMT):c.158_181+7del deletion Deficiency of guanidinoacetate methyltransferase [RCV001420144] Chr19:1401289..1401319 [GRCh38]
Chr19:1401288..1401318 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_000156.6(GAMT):c.181G>A (p.Gly61Arg) single nucleotide variant Cerebral creatine deficiency syndrome [RCV003771338]|Deficiency of guanidinoacetate methyltransferase [RCV001420145] Chr19:1401296 [GRCh38]
Chr19:1401295 [GRCh37]
Chr19:19p13.3		 likely pathogenic
NM_000156.6(GAMT):c.162C>G (p.Ala54=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001407646] Chr19:1401315 [GRCh38]
Chr19:1401314 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.156G>A (p.Ala52=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001449339] Chr19:1401321 [GRCh38]
Chr19:1401320 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.571-8C>T single nucleotide variant Cerebral creatine deficiency syndrome [RCV001399548] Chr19:1397507 [GRCh38]
Chr19:1397506 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.486G>C (p.Pro162=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001423717] Chr19:1399000 [GRCh38]
Chr19:1398999 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.163_181+6del deletion Cerebral creatine deficiency syndrome [RCV001379555] Chr19:1401290..1401314 [GRCh38]
Chr19:1401289..1401313 [GRCh37]
Chr19:19p13.3		 likely pathogenic
NM_000156.6(GAMT):c.475C>T (p.Leu159=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001428643] Chr19:1399011 [GRCh38]
Chr19:1399010 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.309C>G (p.Ala103=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001405662] Chr19:1399811 [GRCh38]
Chr19:1399810 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.120G>A (p.Pro40=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001405664] Chr19:1401357 [GRCh38]
Chr19:1401356 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.273C>T (p.Cys91=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001410480] Chr19:1399847 [GRCh38]
Chr19:1399846 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.486G>A (p.Pro162=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001444857]|Deficiency of guanidinoacetate methyltransferase [RCV001836407] Chr19:1399000 [GRCh38]
Chr19:1398999 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.51C>T (p.Ser17=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001408101] Chr19:1401426 [GRCh38]
Chr19:1401425 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.307del (p.Ala103fs) deletion Cerebral creatine deficiency syndrome [RCV001386769]|Deficiency of guanidinoacetate methyltransferase [RCV002504647] Chr19:1399813 [GRCh38]
Chr19:1399812 [GRCh37]
Chr19:19p13.3		 pathogenic|likely pathogenic
NM_000156.6(GAMT):c.324_325del (p.His108fs) microsatellite Cerebral creatine deficiency syndrome [RCV001386526]|Deficiency of guanidinoacetate methyltransferase [RCV003469721] Chr19:1399795..1399796 [GRCh38]
Chr19:1399794..1399795 [GRCh37]
Chr19:19p13.3		 pathogenic|likely pathogenic
NM_000156.6(GAMT):c.525G>A (p.Gly175=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001417804] Chr19:1398961 [GRCh38]
Chr19:1398960 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.27C>T (p.Ile9=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001442430] Chr19:1401450 [GRCh38]
Chr19:1401449 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.588G>A (p.Ala196=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001400527] Chr19:1397482 [GRCh38]
Chr19:1397481 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.64del (p.Ala22fs) deletion Cerebral creatine deficiency syndrome [RCV001389180]|Deficiency of guanidinoacetate methyltransferase [RCV004584892] Chr19:1401413 [GRCh38]
Chr19:1401412 [GRCh37]
Chr19:19p13.3		 pathogenic|likely pathogenic
NM_000156.6(GAMT):c.525G>C (p.Gly175=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001409375] Chr19:1398961 [GRCh38]
Chr19:1398960 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.649C>T (p.Pro217Ser) single nucleotide variant not provided [RCV001509008] Chr19:1397421 [GRCh38]
Chr19:1397420 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.591G>A (p.Leu197=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001459417] Chr19:1397479 [GRCh38]
Chr19:1397478 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.291G>A (p.Gln97=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001460024] Chr19:1399829 [GRCh38]
Chr19:1399828 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.414_415del (p.Ser140fs) deletion Cerebral creatine deficiency syndrome [RCV001390318] Chr19:1399172..1399173 [GRCh38]
Chr19:1399171..1399172 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_000156.6(GAMT):c.555C>T (p.Ile185=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001435825] Chr19:1398931 [GRCh38]
Chr19:1398930 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.59G>A (p.Trp20Ter) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001381037]|Deficiency of guanidinoacetate methyltransferase [RCV003462972] Chr19:1401418 [GRCh38]
Chr19:1401417 [GRCh37]
Chr19:19p13.3		 pathogenic|likely pathogenic
NM_000156.6(GAMT):c.654C>T (p.Ala218=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001439414]|Inborn genetic diseases [RCV002368355] Chr19:1397416 [GRCh38]
Chr19:1397415 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.654C>G (p.Ala218=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001450925] Chr19:1397416 [GRCh38]
Chr19:1397415 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.492C>G (p.Gly164=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001494663] Chr19:1398994 [GRCh38]
Chr19:1398993 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.378C>T (p.Asp126=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001457690] Chr19:1399537 [GRCh38]
Chr19:1399536 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.100C>T (p.Leu34=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001460270] Chr19:1401377 [GRCh38]
Chr19:1401376 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.276T>C (p.Asn92=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001478372] Chr19:1399844 [GRCh38]
Chr19:1399843 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.182-10G>T single nucleotide variant Cerebral creatine deficiency syndrome [RCV001438247] Chr19:1399948 [GRCh38]
Chr19:1399947 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.102G>T (p.Leu34=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001423549] Chr19:1401375 [GRCh38]
Chr19:1401374 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.579G>A (p.Gln193=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001401153] Chr19:1397491 [GRCh38]
Chr19:1397490 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.492C>T (p.Gly164=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001452407] Chr19:1398994 [GRCh38]
Chr19:1398993 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.456C>A (p.Ile152=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001459751] Chr19:1399131 [GRCh38]
Chr19:1399130 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.624T>C (p.Arg208=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001499767] Chr19:1397446 [GRCh38]
Chr19:1397445 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.48C>A (p.Cys16Ter) single nucleotide variant Deficiency of guanidinoacetate methyltransferase [RCV003334081]|not provided [RCV003108276] Chr19:1401429 [GRCh38]
Chr19:1401428 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_000156.6(GAMT):c.551A>G (p.Asp184Gly) single nucleotide variant not provided [RCV001786898] Chr19:1398935 [GRCh38]
Chr19:1398934 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.320C>T (p.Thr107Ile) single nucleotide variant not provided [RCV001763247] Chr19:1399800 [GRCh38]
Chr19:1399799 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.114C>T (p.Gly38=) single nucleotide variant Deficiency of guanidinoacetate methyltransferase [RCV004596481]|not provided [RCV001768570] Chr19:1401363 [GRCh38]
Chr19:1401362 [GRCh37]
Chr19:19p13.3		 likely pathogenic|uncertain significance
NM_000156.6(GAMT):c.142C>T (p.Pro48Ser) single nucleotide variant not provided [RCV001765034] Chr19:1401335 [GRCh38]
Chr19:1401334 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.497T>C (p.Leu166Pro) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001761400]|Deficiency of guanidinoacetate methyltransferase [RCV003298978] Chr19:1398989 [GRCh38]
Chr19:1398988 [GRCh37]
Chr19:19p13.3		 likely pathogenic
NM_000156.6(GAMT):c.609dup (p.Arg204fs) duplication Cerebral creatine deficiency syndrome [RCV001761398]|Deficiency of guanidinoacetate methyltransferase [RCV002260948] Chr19:1397460..1397461 [GRCh38]
Chr19:1397459..1397460 [GRCh37]
Chr19:19p13.3		 pathogenic|uncertain significance
NM_000156.6(GAMT):c.578A>G (p.Gln193Arg) single nucleotide variant Deficiency of guanidinoacetate methyltransferase [RCV002489844]|not specified [RCV001797869] Chr19:1397492 [GRCh38]
Chr19:1397491 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.350G>C (p.Trp117Ser) single nucleotide variant not provided [RCV001761380] Chr19:1399565 [GRCh38]
Chr19:1399564 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.491G>T (p.Gly164Val) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001761401] Chr19:1398995 [GRCh38]
Chr19:1398994 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.518C>T (p.Ser173Phe) single nucleotide variant not provided [RCV001757855] Chr19:1398968 [GRCh38]
Chr19:1398967 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.391+5G>A single nucleotide variant not provided [RCV001757854] Chr19:1399519 [GRCh38]
Chr19:1399518 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.476T>C (p.Leu159Pro) single nucleotide variant Deficiency of guanidinoacetate methyltransferase [RCV003159214]|not provided [RCV001816225] Chr19:1399010 [GRCh38]
Chr19:1399009 [GRCh37]
Chr19:19p13.3		 pathogenic|likely pathogenic
NM_000156.6(GAMT):c.53C>T (p.Pro18Leu) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001950518] Chr19:1401424 [GRCh38]
Chr19:1401423 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.570+1G>A single nucleotide variant Cerebral creatine deficiency syndrome [RCV001896215]|Deficiency of guanidinoacetate methyltransferase [RCV002508327] Chr19:1398915 [GRCh38]
Chr19:1398914 [GRCh37]
Chr19:19p13.3		 uncertain significance|not provided
NM_000156.6(GAMT):c.30C>G (p.Phe10Leu) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001874331] Chr19:1401447 [GRCh38]
Chr19:1401446 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.432G>A (p.Trp144Ter) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001892971]|Deficiency of guanidinoacetate methyltransferase [RCV004596490] Chr19:1399155 [GRCh38]
Chr19:1399154 [GRCh37]
Chr19:19p13.3		 pathogenic
NC_000019.9:g.(?_1388504)_(1497210_?)dup duplication Cerebral creatine deficiency syndrome [RCV001872879] Chr19:1388504..1497210 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.402C>A (p.Tyr134Ter) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001890336]|Deficiency of guanidinoacetate methyltransferase [RCV003470992] Chr19:1399185 [GRCh38]
Chr19:1399184 [GRCh37]
Chr19:19p13.3		 pathogenic|likely pathogenic
NM_000156.6(GAMT):c.127G>C (p.Glu43Gln) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001909092] Chr19:1401350 [GRCh38]
Chr19:1401349 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.593T>C (p.Leu198Pro) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001968251] Chr19:1397477 [GRCh38]
Chr19:1397476 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.669C>G (p.Tyr223Ter) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001927470] Chr19:1397401 [GRCh38]
Chr19:1397400 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.504C>G (p.Tyr168Ter) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001926354] Chr19:1398982 [GRCh38]
Chr19:1398981 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_000156.6(GAMT):c.344G>A (p.Gly115Asp) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001965039]|Inborn genetic diseases [RCV002562130] Chr19:1399571 [GRCh38]
Chr19:1399570 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.526dup (p.Glu176fs) duplication Cerebral creatine deficiency syndrome [RCV001913912]|Deficiency of guanidinoacetate methyltransferase [RCV003159218] Chr19:1398959..1398960 [GRCh38]
Chr19:1398958..1398959 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_000156.6(GAMT):c.164_171del (p.Ala55fs) deletion Cerebral creatine deficiency syndrome [RCV001987598] Chr19:1401306..1401313 [GRCh38]
Chr19:1401305..1401312 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_000156.6(GAMT):c.181+2T>C single nucleotide variant Cerebral creatine deficiency syndrome [RCV002040462] Chr19:1401294 [GRCh38]
Chr19:1401293 [GRCh37]
Chr19:19p13.3		 likely pathogenic
NM_000156.6(GAMT):c.661C>T (p.Arg221Cys) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001910240] Chr19:1397409 [GRCh38]
Chr19:1397408 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.118C>T (p.Pro40Ser) single nucleotide variant Cerebral creatine deficiency syndrome [RCV002002298] Chr19:1401359 [GRCh38]
Chr19:1401358 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.64dup (p.Ala22fs) duplication Cerebral creatine deficiency syndrome [RCV001908704]|Deficiency of guanidinoacetate methyltransferase [RCV003159217] Chr19:1401412..1401413 [GRCh38]
Chr19:1401411..1401412 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_000156.6(GAMT):c.200T>A (p.Val67Glu) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001927608] Chr19:1399920 [GRCh38]
Chr19:1399919 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.670G>C (p.Ala224Pro) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001890383]|Inborn genetic diseases [RCV004041268] Chr19:1397400 [GRCh38]
Chr19:1397399 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.584C>T (p.Pro195Leu) single nucleotide variant Cerebral creatine deficiency syndrome [RCV002041010] Chr19:1397486 [GRCh38]
Chr19:1397485 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.470_476del (p.Phe157fs) deletion Cerebral creatine deficiency syndrome [RCV001999757] Chr19:1399010..1399016 [GRCh38]
Chr19:1399009..1399015 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_000156.6(GAMT):c.38G>C (p.Gly13Ala) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001960804] Chr19:1401439 [GRCh38]
Chr19:1401438 [GRCh37]
Chr19:19p13.3		 uncertain significance
NC_000019.9:g.(?_589946)_(1650247_?)dup duplication not provided [RCV001940167] Chr19:589946..1650247 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.602G>A (p.Gly201Asp) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001888547] Chr19:1397468 [GRCh38]
Chr19:1397467 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.2T>C (p.Met1Thr) single nucleotide variant Cerebral creatine deficiency syndrome [RCV002037737] Chr19:1401475 [GRCh38]
Chr19:1401474 [GRCh37]
Chr19:19p13.3		 pathogenic
NC_000019.9:g.(?_1398895)_(1401475_?)del deletion Cerebral creatine deficiency syndrome [RCV001941960] Chr19:1398895..1401475 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_000156.6(GAMT):c.432_433dup (p.His145fs) duplication Cerebral creatine deficiency syndrome [RCV001883192] Chr19:1399153..1399154 [GRCh38]
Chr19:1399152..1399153 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_000156.6(GAMT):c.534dup (p.Lys179fs) duplication Cerebral creatine deficiency syndrome [RCV001942067] Chr19:1398951..1398952 [GRCh38]
Chr19:1398950..1398951 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_000156.6(GAMT):c.428C>T (p.Thr143Ile) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001998211] Chr19:1399159 [GRCh38]
Chr19:1399158 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.520T>C (p.Trp174Arg) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001943659]|Deficiency of guanidinoacetate methyltransferase [RCV003482165] Chr19:1398966 [GRCh38]
Chr19:1398965 [GRCh37]
Chr19:19p13.3		 likely pathogenic|uncertain significance
NM_000156.6(GAMT):c.26T>A (p.Ile9Asn) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001930755] Chr19:1401451 [GRCh38]
Chr19:1401450 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.697G>A (p.Val233Met) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001887122] Chr19:1397373 [GRCh38]
Chr19:1397372 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.350G>A (p.Trp117Ter) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001963237]|Deficiency of guanidinoacetate methyltransferase [RCV003464328] Chr19:1399565 [GRCh38]
Chr19:1399564 [GRCh37]
Chr19:19p13.3		 pathogenic|likely pathogenic
NM_000156.6(GAMT):c.346C>A (p.Leu116Met) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001922404] Chr19:1399569 [GRCh38]
Chr19:1399568 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.11C>G (p.Pro4Arg) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001955836] Chr19:1401466 [GRCh38]
Chr19:1401465 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.152A>T (p.His51Leu) single nucleotide variant Cerebral creatine deficiency syndrome [RCV002032095] Chr19:1401325 [GRCh38]
Chr19:1401324 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.327+4C>T single nucleotide variant Cerebral creatine deficiency syndrome [RCV001935279] Chr19:1399789 [GRCh38]
Chr19:1399788 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.459+3G>T single nucleotide variant Cerebral creatine deficiency syndrome [RCV001864814] Chr19:1399125 [GRCh38]
Chr19:1399124 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.440_441dup (p.Gln148fs) microsatellite Cerebral creatine deficiency syndrome [RCV001994756] Chr19:1399145..1399146 [GRCh38]
Chr19:1399144..1399145 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_000156.6(GAMT):c.305G>A (p.Trp102Ter) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001877652] Chr19:1399815 [GRCh38]
Chr19:1399814 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_000156.6(GAMT):c.16G>A (p.Ala6Thr) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001935523]|Inborn genetic diseases [RCV004631823] Chr19:1401461 [GRCh38]
Chr19:1401460 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.229A>G (p.Lys77Glu) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001877980] Chr19:1399891 [GRCh38]
Chr19:1399890 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.179A>C (p.Lys60Thr) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001932962] Chr19:1401298 [GRCh38]
Chr19:1401297 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.248T>C (p.Ile83Thr) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001974724] Chr19:1399872 [GRCh38]
Chr19:1399871 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.435C>G (p.His145Gln) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001884313] Chr19:1399152 [GRCh38]
Chr19:1399151 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.622C>A (p.Arg208Ser) single nucleotide variant Cerebral creatine deficiency syndrome [RCV002028597] Chr19:1397448 [GRCh38]
Chr19:1397447 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.636G>A (p.Met212Ile) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001960187] Chr19:1397434 [GRCh38]
Chr19:1397433 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.181+16C>T single nucleotide variant Cerebral creatine deficiency syndrome [RCV001907381] Chr19:1401280 [GRCh38]
Chr19:1401279 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.358G>A (p.Val120Met) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001960789] Chr19:1399557 [GRCh38]
Chr19:1399556 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.42G>C (p.Glu14Asp) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001982134]|Deficiency of guanidinoacetate methyltransferase [RCV003130620] Chr19:1401435 [GRCh38]
Chr19:1401434 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.536del (p.Lys179fs) deletion Cerebral creatine deficiency syndrome [RCV001975085] Chr19:1398950 [GRCh38]
Chr19:1398949 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_000156.6(GAMT):c.631G>C (p.Val211Leu) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001979520] Chr19:1397439 [GRCh38]
Chr19:1397438 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.171C>G (p.Ala57=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV002147098] Chr19:1401306 [GRCh38]
Chr19:1401305 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.87A>T (p.Ala29=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV002086719] Chr19:1401390 [GRCh38]
Chr19:1401389 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.392-19G>T single nucleotide variant Cerebral creatine deficiency syndrome [RCV002190090] Chr19:1399214 [GRCh38]
Chr19:1399213 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.108C>T (p.Ile36=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV002129230] Chr19:1401369 [GRCh38]
Chr19:1401368 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.23C>T (p.Pro8Leu) single nucleotide variant not provided [RCV002224783] Chr19:1401454 [GRCh38]
Chr19:1401453 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.328-5G>A single nucleotide variant Cerebral creatine deficiency syndrome [RCV002167929] Chr19:1399592 [GRCh38]
Chr19:1399591 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.516C>T (p.Thr172=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV002104484] Chr19:1398970 [GRCh38]
Chr19:1398969 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.228A>T (p.Ser76=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV002185079]|not provided [RCV002224142] Chr19:1399892 [GRCh38]
Chr19:1399891 [GRCh37]
Chr19:19p13.3		 likely benign|uncertain significance
NM_000156.6(GAMT):c.267C>A (p.Ile89=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV002174793] Chr19:1399853 [GRCh38]
Chr19:1399852 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.267C>T (p.Ile89=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV002152594] Chr19:1399853 [GRCh38]
Chr19:1399852 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.397C>T (p.Leu133=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV002095597] Chr19:1399190 [GRCh38]
Chr19:1399189 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.328-19_328-18del deletion Cerebral creatine deficiency syndrome [RCV002112762] Chr19:1399605..1399606 [GRCh38]
Chr19:1399604..1399605 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.570+9A>C single nucleotide variant Cerebral creatine deficiency syndrome [RCV002146820] Chr19:1398907 [GRCh38]
Chr19:1398906 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.460-9C>G single nucleotide variant Cerebral creatine deficiency syndrome [RCV002195507] Chr19:1399035 [GRCh38]
Chr19:1399034 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.391+17C>T single nucleotide variant Cerebral creatine deficiency syndrome [RCV002078182] Chr19:1399507 [GRCh38]
Chr19:1399506 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.181+18T>G single nucleotide variant Cerebral creatine deficiency syndrome [RCV002153823] Chr19:1401278 [GRCh38]
Chr19:1401277 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.571-7_571-6delinsTA indel Cerebral creatine deficiency syndrome [RCV002205098] Chr19:1397505..1397506 [GRCh38]
Chr19:1397504..1397505 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.24C>A (p.Pro8=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV002170665] Chr19:1401453 [GRCh38]
Chr19:1401452 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.181+7C>T single nucleotide variant Cerebral creatine deficiency syndrome [RCV002114821] Chr19:1401289 [GRCh38]
Chr19:1401288 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.459+8T>C single nucleotide variant Cerebral creatine deficiency syndrome [RCV002211879] Chr19:1399120 [GRCh38]
Chr19:1399119 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.392-19G>A single nucleotide variant Cerebral creatine deficiency syndrome [RCV002198265] Chr19:1399214 [GRCh38]
Chr19:1399213 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.328-19T>C single nucleotide variant Cerebral creatine deficiency syndrome [RCV002154025] Chr19:1399606 [GRCh38]
Chr19:1399605 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.399G>T (p.Leu133=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV002120522] Chr19:1399188 [GRCh38]
Chr19:1399187 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.391+18G>A single nucleotide variant Cerebral creatine deficiency syndrome [RCV002202896] Chr19:1399506 [GRCh38]
Chr19:1399505 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.460-6C>T single nucleotide variant Cerebral creatine deficiency syndrome [RCV002101982] Chr19:1399032 [GRCh38]
Chr19:1399031 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.672C>T (p.Ala224=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV002140660] Chr19:1397398 [GRCh38]
Chr19:1397397 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.165C>T (p.Ala55=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV002162016] Chr19:1401312 [GRCh38]
Chr19:1401311 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.360G>A (p.Val120=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV002160296] Chr19:1399555 [GRCh38]
Chr19:1399554 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.138G>A (p.Glu46=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV002217818] Chr19:1401339 [GRCh38]
Chr19:1401338 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.328-9C>T single nucleotide variant Cerebral creatine deficiency syndrome [RCV002120904] Chr19:1399596 [GRCh38]
Chr19:1399595 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.181+20C>G single nucleotide variant Cerebral creatine deficiency syndrome [RCV002181615] Chr19:1401276 [GRCh38]
Chr19:1401275 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.90G>A (p.Ala30=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV002199083] Chr19:1401387 [GRCh38]
Chr19:1401386 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.155C>G (p.Ala52Gly) single nucleotide variant Cerebral creatine deficiency syndrome [RCV003110364] Chr19:1401322 [GRCh38]
Chr19:1401321 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.183G>A (p.Gly61=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV003110661] Chr19:1399937 [GRCh38]
Chr19:1399936 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.134G>A (p.Trp45Ter) single nucleotide variant Cerebral creatine deficiency syndrome [RCV003112399]|Deficiency of guanidinoacetate methyltransferase [RCV003459777]|GAMT-related disorder [RCV003919013] Chr19:1401343 [GRCh38]
Chr19:1401342 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_000156.6(GAMT):c.522G>C (p.Trp174Cys) single nucleotide variant Cerebral creatine deficiency syndrome [RCV003113020]|Deficiency of guanidinoacetate methyltransferase [RCV003482169] Chr19:1398964 [GRCh38]
Chr19:1398963 [GRCh37]
Chr19:19p13.3		 uncertain significance
NC_000019.9:g.(?_589946)_(5696788_?)dup duplication not provided [RCV003113597] Chr19:589946..5696788 [GRCh37]
Chr19:19p13.3		 uncertain significance
NC_000019.9:g.(?_1206913)_(1650247_?)del deletion Cerebral creatine deficiency syndrome [RCV003119440] Chr19:1206913..1650247 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_000156.6(GAMT):c.391+5G>C single nucleotide variant Deficiency of guanidinoacetate methyltransferase [RCV004597242] Chr19:1399519 [GRCh38]
Chr19:1399518 [GRCh37]
Chr19:19p13.3		 uncertain significance
NC_000019.9:g.(?_1397025)_1397484del deletion not specified [RCV002271878] Chr19:1397025..1397484 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.475del (p.Leu159fs) deletion Cerebral creatine deficiency syndrome [RCV003586325]|Deficiency of guanidinoacetate methyltransferase [RCV002283405] Chr19:1399011 [GRCh38]
Chr19:1399010 [GRCh37]
Chr19:19p13.3		 pathogenic|likely pathogenic
NM_000156.6(GAMT):c.635T>A (p.Met212Lys) single nucleotide variant Cerebral creatine deficiency syndrome [RCV003098216]|Inborn genetic diseases [RCV002369027] Chr19:1397435 [GRCh38]
Chr19:1397434 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.608_621del (p.Arg203fs) deletion Cerebral creatine deficiency syndrome [RCV003012056] Chr19:1397449..1397462 [GRCh38]
Chr19:1397448..1397461 [GRCh37]
Chr19:19p13.3		 pathogenic
GRCh37/hg19 19p13.3(chr19:1356893-1676446)x1 copy number loss not provided [RCV002474821] Chr19:1356893..1676446 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.339G>C (p.Leu113Phe) single nucleotide variant Deficiency of guanidinoacetate methyltransferase [RCV003130982] Chr19:1399576 [GRCh38]
Chr19:1399575 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.593T>G (p.Leu198Arg) single nucleotide variant Cerebral creatine deficiency syndrome [RCV003103250]|Inborn genetic diseases [RCV002355923] Chr19:1397477 [GRCh38]
Chr19:1397476 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.522G>T (p.Trp174Cys) single nucleotide variant Inborn genetic diseases [RCV002340852]|not provided [RCV003418468] Chr19:1398964 [GRCh38]
Chr19:1398963 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.442C>T (p.Gln148Ter) single nucleotide variant Inborn genetic diseases [RCV002333951] Chr19:1399145 [GRCh38]
Chr19:1399144 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_000156.6(GAMT):c.261G>C (p.Trp87Cys) single nucleotide variant Cerebral creatine deficiency syndrome [RCV002302375] Chr19:1399859 [GRCh38]
Chr19:1399858 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.657C>A (p.Asp219Glu) single nucleotide variant Cerebral creatine deficiency syndrome [RCV003098294]|Inborn genetic diseases [RCV002364485] Chr19:1397413 [GRCh38]
Chr19:1397412 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.570+46G>A single nucleotide variant Inborn genetic diseases [RCV002859900] Chr19:1398870 [GRCh38]
Chr19:1398869 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.479T>G (p.Leu160Arg) single nucleotide variant Cerebral creatine deficiency syndrome [RCV003012042] Chr19:1399007 [GRCh38]
Chr19:1399006 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.418T>A (p.Ser140Thr) single nucleotide variant Cerebral creatine deficiency syndrome [RCV002755982] Chr19:1399169 [GRCh38]
Chr19:1399168 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.630G>A (p.Glu210=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV002686354] Chr19:1397440 [GRCh38]
Chr19:1397439 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.466G>A (p.Ala156Thr) single nucleotide variant Cerebral creatine deficiency syndrome [RCV002948105]|Inborn genetic diseases [RCV003367914] Chr19:1399020 [GRCh38]
Chr19:1399019 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.629A>T (p.Glu210Val) single nucleotide variant Inborn genetic diseases [RCV002728738] Chr19:1397441 [GRCh38]
Chr19:1397440 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.246C>T (p.Pro82=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV002843442] Chr19:1399874 [GRCh38]
Chr19:1399873 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.60G>A (p.Trp20Ter) single nucleotide variant Cerebral creatine deficiency syndrome [RCV002947953]|not provided [RCV004593104] Chr19:1401417 [GRCh38]
Chr19:1401416 [GRCh37]
Chr19:19p13.3		 pathogenic|likely pathogenic
NM_000156.6(GAMT):c.62G>A (p.Gly21Glu) single nucleotide variant Inborn genetic diseases [RCV002882425] Chr19:1401415 [GRCh38]
Chr19:1401414 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.370del (p.Leu124fs) deletion Cerebral creatine deficiency syndrome [RCV002994505] Chr19:1399545 [GRCh38]
Chr19:1399544 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_000156.6(GAMT):c.617A>G (p.Asn206Ser) single nucleotide variant Cerebral creatine deficiency syndrome [RCV003015951] Chr19:1397453 [GRCh38]
Chr19:1397452 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.459+12dup duplication Cerebral creatine deficiency syndrome [RCV003073818] Chr19:1399115..1399116 [GRCh38]
Chr19:1399114..1399115 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.392-15C>T single nucleotide variant Cerebral creatine deficiency syndrome [RCV003013411] Chr19:1399210 [GRCh38]
Chr19:1399209 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.219C>G (p.Ile73Met) single nucleotide variant Cerebral creatine deficiency syndrome [RCV002842465] Chr19:1399901 [GRCh38]
Chr19:1399900 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.37G>T (p.Gly13Cys) single nucleotide variant Cerebral creatine deficiency syndrome [RCV003016696] Chr19:1401440 [GRCh38]
Chr19:1401439 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.324C>T (p.His108=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV002818985] Chr19:1399796 [GRCh38]
Chr19:1399795 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.131G>A (p.Arg44His) single nucleotide variant Cerebral creatine deficiency syndrome [RCV002947644] Chr19:1401346 [GRCh38]
Chr19:1401345 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.154G>T (p.Ala52Ser) single nucleotide variant Cerebral creatine deficiency syndrome [RCV003016531] Chr19:1401323 [GRCh38]
Chr19:1401322 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.527A>G (p.Glu176Gly) single nucleotide variant Cerebral creatine deficiency syndrome [RCV002843194] Chr19:1398959 [GRCh38]
Chr19:1398958 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.289del (p.Gln97fs) deletion Cerebral creatine deficiency syndrome [RCV003002438] Chr19:1399831 [GRCh38]
Chr19:1399830 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_000156.6(GAMT):c.199G>A (p.Val67Met) single nucleotide variant Cerebral creatine deficiency syndrome [RCV003081501] Chr19:1399921 [GRCh38]
Chr19:1399920 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.112G>A (p.Gly38Ser) single nucleotide variant Cerebral creatine deficiency syndrome [RCV003053201] Chr19:1401365 [GRCh38]
Chr19:1401364 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.119C>G (p.Pro40Arg) single nucleotide variant Cerebral creatine deficiency syndrome [RCV003037159] Chr19:1401358 [GRCh38]
Chr19:1401357 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.366C>G (p.Pro122=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV002914044] Chr19:1399549 [GRCh38]
Chr19:1399548 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.449A>G (p.Asn150Ser) single nucleotide variant Cerebral creatine deficiency syndrome [RCV002949155] Chr19:1399138 [GRCh38]
Chr19:1399137 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.278A>T (p.Asp93Val) single nucleotide variant Cerebral creatine deficiency syndrome [RCV002706305] Chr19:1399842 [GRCh38]
Chr19:1399841 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.690G>T (p.Thr230=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV002976269] Chr19:1397380 [GRCh38]
Chr19:1397379 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.456C>G (p.Ile152Met) single nucleotide variant Cerebral creatine deficiency syndrome [RCV002909488] Chr19:1399131 [GRCh38]
Chr19:1399130 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.692C>T (p.Pro231Leu) single nucleotide variant Cerebral creatine deficiency syndrome [RCV002975705] Chr19:1397378 [GRCh38]
Chr19:1397377 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.230A>G (p.Lys77Arg) single nucleotide variant Cerebral creatine deficiency syndrome [RCV002761666] Chr19:1399890 [GRCh38]
Chr19:1399889 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.82dup (p.Asp28fs) duplication Cerebral creatine deficiency syndrome [RCV003055218] Chr19:1401394..1401395 [GRCh38]
Chr19:1401393..1401394 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_000156.6(GAMT):c.460-5C>T single nucleotide variant Cerebral creatine deficiency syndrome [RCV002781233] Chr19:1399031 [GRCh38]
Chr19:1399030 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.182-17G>A single nucleotide variant Cerebral creatine deficiency syndrome [RCV002948402] Chr19:1399955 [GRCh38]
Chr19:1399954 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.89C>T (p.Ala30Val) single nucleotide variant Cerebral creatine deficiency syndrome [RCV002640033] Chr19:1401388 [GRCh38]
Chr19:1401387 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.577C>G (p.Gln193Glu) single nucleotide variant Cerebral creatine deficiency syndrome [RCV002781125] Chr19:1397493 [GRCh38]
Chr19:1397492 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.246C>A (p.Pro82=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV002912450] Chr19:1399874 [GRCh38]
Chr19:1399873 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.54C>G (p.Pro18=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV002847422] Chr19:1401423 [GRCh38]
Chr19:1401422 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.328-11C>T single nucleotide variant Cerebral creatine deficiency syndrome [RCV002933368] Chr19:1399598 [GRCh38]
Chr19:1399597 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.221C>T (p.Ala74Val) single nucleotide variant Cerebral creatine deficiency syndrome [RCV003085938] Chr19:1399899 [GRCh38]
Chr19:1399898 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.304T>C (p.Trp102Arg) single nucleotide variant Cerebral creatine deficiency syndrome [RCV002766877] Chr19:1399816 [GRCh38]
Chr19:1399815 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.128_135dup (p.Glu46fs) duplication Cerebral creatine deficiency syndrome [RCV002766922] Chr19:1401341..1401342 [GRCh38]
Chr19:1401340..1401341 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_000156.6(GAMT):c.130C>G (p.Arg44Gly) single nucleotide variant Cerebral creatine deficiency syndrome [RCV003005873] Chr19:1401347 [GRCh38]
Chr19:1401346 [GRCh37]
Chr19:19p13.3		 uncertain significance
NC_000019.10:g.1399939del deletion Cerebral creatine deficiency syndrome [RCV002872002] Chr19:1399935 [GRCh38]
Chr19:1399934 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_000156.6(GAMT):c.327+15G>A single nucleotide variant Cerebral creatine deficiency syndrome [RCV002890725] Chr19:1399778 [GRCh38]
Chr19:1399777 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.392-5T>G single nucleotide variant Cerebral creatine deficiency syndrome [RCV003022550] Chr19:1399200 [GRCh38]
Chr19:1399199 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.45C>T (p.Asn15=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV002958551] Chr19:1401432 [GRCh38]
Chr19:1401431 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.327+9C>T single nucleotide variant Cerebral creatine deficiency syndrome [RCV002852016] Chr19:1399784 [GRCh38]
Chr19:1399783 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.181+10G>A single nucleotide variant Cerebral creatine deficiency syndrome [RCV002766061] Chr19:1401286 [GRCh38]
Chr19:1401285 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.606C>T (p.Phe202=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV003059555] Chr19:1397464 [GRCh38]
Chr19:1397463 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.166G>A (p.Ala56Thr) single nucleotide variant Cerebral creatine deficiency syndrome [RCV002786407] Chr19:1401311 [GRCh38]
Chr19:1401310 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.705A>T (p.Lys235Asn) single nucleotide variant Cerebral creatine deficiency syndrome [RCV003058489]|Inborn genetic diseases [RCV004070147] Chr19:1397365 [GRCh38]
Chr19:1397364 [GRCh37]
Chr19:19p13.3		 likely benign|uncertain significance
NM_000156.6(GAMT):c.66G>T (p.Ala22=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV003082218] Chr19:1401411 [GRCh38]
Chr19:1401410 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.332_338del (p.Ile111fs) deletion Cerebral creatine deficiency syndrome [RCV002811559]|Deficiency of guanidinoacetate methyltransferase [RCV003146644] Chr19:1399577..1399583 [GRCh38]
Chr19:1399576..1399582 [GRCh37]
Chr19:19p13.3		 pathogenic|likely pathogenic
NM_000156.6(GAMT):c.299G>A (p.Arg100Gln) single nucleotide variant Cerebral creatine deficiency syndrome [RCV003065136]|Inborn genetic diseases [RCV003274188] Chr19:1399821 [GRCh38]
Chr19:1399820 [GRCh37]
Chr19:19p13.3		 likely benign|uncertain significance
NM_000156.6(GAMT):c.460-3C>T single nucleotide variant Cerebral creatine deficiency syndrome [RCV002599786] Chr19:1399029 [GRCh38]
Chr19:1399028 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.6C>T (p.Ser2=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV002877579] Chr19:1401471 [GRCh38]
Chr19:1401470 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.65del (p.Ala22fs) deletion Cerebral creatine deficiency syndrome [RCV002810280] Chr19:1401412 [GRCh38]
Chr19:1401411 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_000156.6(GAMT):c.18G>A (p.Ala6=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV003008469] Chr19:1401459 [GRCh38]
Chr19:1401458 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.515C>T (p.Thr172Ile) single nucleotide variant Cerebral creatine deficiency syndrome [RCV002938277] Chr19:1398971 [GRCh38]
Chr19:1398970 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.595G>A (p.Glu199Lys) single nucleotide variant Cerebral creatine deficiency syndrome [RCV003026804] Chr19:1397475 [GRCh38]
Chr19:1397474 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.570+6C>T single nucleotide variant Cerebral creatine deficiency syndrome [RCV002962995] Chr19:1398910 [GRCh38]
Chr19:1398909 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.571-3C>A single nucleotide variant Cerebral creatine deficiency syndrome [RCV002933873] Chr19:1397502 [GRCh38]
Chr19:1397501 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.598G>C (p.Ala200Pro) single nucleotide variant Inborn genetic diseases [RCV002898036] Chr19:1397472 [GRCh38]
Chr19:1397471 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.610A>G (p.Arg204Gly) single nucleotide variant Cerebral creatine deficiency syndrome [RCV003052625]|Inborn genetic diseases [RCV004632159] Chr19:1397460 [GRCh38]
Chr19:1397459 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.693C>T (p.Pro231=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV002676744] Chr19:1397377 [GRCh38]
Chr19:1397376 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.571-10C>T single nucleotide variant Cerebral creatine deficiency syndrome [RCV002608389] Chr19:1397509 [GRCh38]
Chr19:1397508 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.10C>T (p.Pro4Ser) single nucleotide variant Cerebral creatine deficiency syndrome [RCV002607645] Chr19:1401467 [GRCh38]
Chr19:1401466 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.563T>C (p.Met188Thr) single nucleotide variant Cerebral creatine deficiency syndrome [RCV003070952] Chr19:1398923 [GRCh38]
Chr19:1398922 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.328-17C>A single nucleotide variant Cerebral creatine deficiency syndrome [RCV002607902] Chr19:1399604 [GRCh38]
Chr19:1399603 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.623G>T (p.Arg208Leu) single nucleotide variant Cerebral creatine deficiency syndrome [RCV003071301] Chr19:1397447 [GRCh38]
Chr19:1397446 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.157_158inv (p.Leu53Arg) inversion Cerebral creatine deficiency syndrome [RCV002607330] Chr19:1401319..1401320 [GRCh38]
Chr19:1401318..1401319 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.321A>G (p.Thr107=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV002942660] Chr19:1399799 [GRCh38]
Chr19:1399798 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.346C>T (p.Leu116=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV002584207] Chr19:1399569 [GRCh38]
Chr19:1399568 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.152A>C (p.His51Pro) single nucleotide variant Cerebral creatine deficiency syndrome [RCV003050512]|Deficiency of guanidinoacetate methyltransferase [RCV003334076] Chr19:1401325 [GRCh38]
Chr19:1401324 [GRCh37]
Chr19:19p13.3		 likely pathogenic|uncertain significance
NC_000019.9:g.(?_1206913)_(3771740_?)dup duplication not provided [RCV003154903] Chr19:1206913..3771740 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.391G>C (p.Gly131Arg) single nucleotide variant Deficiency of guanidinoacetate methyltransferase [RCV003159292] Chr19:1399524 [GRCh38]
Chr19:1399523 [GRCh37]
Chr19:19p13.3		 likely pathogenic
NM_000156.6(GAMT):c.11_12del (p.Pro4fs) deletion Deficiency of guanidinoacetate methyltransferase [RCV003226645] Chr19:1401465..1401466 [GRCh38]
Chr19:1401464..1401465 [GRCh37]
Chr19:19p13.3		 likely pathogenic
NM_000156.6(GAMT):c.202G>T (p.Gly68Cys) single nucleotide variant Deficiency of guanidinoacetate methyltransferase [RCV003159290] Chr19:1399918 [GRCh38]
Chr19:1399917 [GRCh37]
Chr19:19p13.3		 likely pathogenic
NM_000156.6(GAMT):c.220G>C (p.Ala74Pro) single nucleotide variant Cerebral creatine deficiency syndrome [RCV003586387]|Deficiency of guanidinoacetate methyltransferase [RCV003159291] Chr19:1399900 [GRCh38]
Chr19:1399899 [GRCh37]
Chr19:19p13.3		 pathogenic|likely pathogenic
NM_000156.6(GAMT):c.439C>T (p.His147Tyr) single nucleotide variant Deficiency of guanidinoacetate methyltransferase [RCV003159294]|GAMT-related disorder [RCV003928960] Chr19:1399148 [GRCh38]
Chr19:1399147 [GRCh37]
Chr19:19p13.3		 likely pathogenic
NM_000156.6(GAMT):c.427A>T (p.Thr143Ser) single nucleotide variant Inborn genetic diseases [RCV003309105] Chr19:1399160 [GRCh38]
Chr19:1399159 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.235C>T (p.Gln79Ter) single nucleotide variant Deficiency of guanidinoacetate methyltransferase [RCV003461654] Chr19:1399885 [GRCh38]
Chr19:1399884 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_000156.6(GAMT):c.113dup (p.Lys39fs) duplication Deficiency of guanidinoacetate methyltransferase [RCV003468250] Chr19:1401363..1401364 [GRCh38]
Chr19:1401362..1401363 [GRCh37]
Chr19:19p13.3		 likely pathogenic
NM_000156.6(GAMT):c.50del (p.Ser17fs) deletion Cerebral creatine deficiency syndrome [RCV003586425]|Deficiency of guanidinoacetate methyltransferase [RCV003461655] Chr19:1401427 [GRCh38]
Chr19:1401426 [GRCh37]
Chr19:19p13.3		 pathogenic|likely pathogenic
NM_000156.6(GAMT):c.411C>G (p.Tyr137Ter) single nucleotide variant Deficiency of guanidinoacetate methyltransferase [RCV003468251] Chr19:1399176 [GRCh38]
Chr19:1399175 [GRCh37]
Chr19:19p13.3		 likely pathogenic
NM_000156.6(GAMT):c.115A>G (p.Lys39Glu) single nucleotide variant Deficiency of guanidinoacetate methyltransferase [RCV003482173] Chr19:1401362 [GRCh38]
Chr19:1401361 [GRCh37]
Chr19:19p13.3		 likely pathogenic
NM_000156.6(GAMT):c.570+11C>G single nucleotide variant Cerebral creatine deficiency syndrome [RCV003874893] Chr19:1398905 [GRCh38]
Chr19:1398904 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.571G>A (p.Glu191Lys) single nucleotide variant Deficiency of guanidinoacetate methyltransferase [RCV003482172] Chr19:1397499 [GRCh38]
Chr19:1397498 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.233T>A (p.Val78Glu) single nucleotide variant Cerebral creatine deficiency syndrome [RCV003586428]|Deficiency of guanidinoacetate methyltransferase [RCV003482174] Chr19:1399887 [GRCh38]
Chr19:1399886 [GRCh37]
Chr19:19p13.3		 likely pathogenic
GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3 copy number gain not provided [RCV003485190] Chr19:260912..7246777 [GRCh37]
Chr19:19p13.3-13.2		 pathogenic
NM_000156.6(GAMT):c.609G>A (p.Arg203=) single nucleotide variant not provided [RCV003423163] Chr19:1397461 [GRCh38]
Chr19:1397460 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.421GAG[1] (p.Glu142del) microsatellite Deficiency of guanidinoacetate methyltransferase [RCV003486081] Chr19:1399161..1399163 [GRCh38]
Chr19:1399160..1399162 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.459+1G>A single nucleotide variant Cerebral creatine deficiency syndrome [RCV003882108] Chr19:1399127 [GRCh38]
Chr19:1399126 [GRCh37]
Chr19:19p13.3		 likely pathogenic
NM_000156.6(GAMT):c.327+15G>C single nucleotide variant Cerebral creatine deficiency syndrome [RCV003882688] Chr19:1399778 [GRCh38]
Chr19:1399777 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.392-13G>T single nucleotide variant Cerebral creatine deficiency syndrome [RCV003586508] Chr19:1399208 [GRCh38]
Chr19:1399207 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.391+18G>C single nucleotide variant Cerebral creatine deficiency syndrome [RCV003836391] Chr19:1399506 [GRCh38]
Chr19:1399505 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.328-13del deletion Cerebral creatine deficiency syndrome [RCV003586965] Chr19:1399600 [GRCh38]
Chr19:1399599 [GRCh37]
Chr19:19p13.3		 benign
NM_000156.6(GAMT):c.327+11G>A single nucleotide variant Cerebral creatine deficiency syndrome [RCV003858035] Chr19:1399782 [GRCh38]
Chr19:1399781 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.459+19C>T single nucleotide variant Cerebral creatine deficiency syndrome [RCV003587507] Chr19:1399109 [GRCh38]
Chr19:1399108 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.327+15G>T single nucleotide variant Cerebral creatine deficiency syndrome [RCV003587282] Chr19:1399778 [GRCh38]
Chr19:1399777 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.392-10C>T single nucleotide variant Cerebral creatine deficiency syndrome [RCV003843986] Chr19:1399205 [GRCh38]
Chr19:1399204 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.651G>T (p.Pro217=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV003823446] Chr19:1397419 [GRCh38]
Chr19:1397418 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.264C>T (p.Ile88=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV003586868] Chr19:1399856 [GRCh38]
Chr19:1399855 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.327+17A>G single nucleotide variant Cerebral creatine deficiency syndrome [RCV003587015] Chr19:1399776 [GRCh38]
Chr19:1399775 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.327+2T>G single nucleotide variant Cerebral creatine deficiency syndrome [RCV003586928] Chr19:1399791 [GRCh38]
Chr19:1399790 [GRCh37]
Chr19:19p13.3		 likely pathogenic
NM_000156.6(GAMT):c.327+19G>A single nucleotide variant Cerebral creatine deficiency syndrome [RCV003587496] Chr19:1399774 [GRCh38]
Chr19:1399773 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.369C>G (p.Thr123=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV003587123] Chr19:1399546 [GRCh38]
Chr19:1399545 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.503_517del (p.Tyr168_Thr172del) deletion Cerebral creatine deficiency syndrome [RCV003587559] Chr19:1398969..1398983 [GRCh38]
Chr19:1398968..1398982 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_000156.6(GAMT):c.182-4C>T single nucleotide variant Cerebral creatine deficiency syndrome [RCV003587659] Chr19:1399942 [GRCh38]
Chr19:1399941 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.182-12G>A single nucleotide variant Cerebral creatine deficiency syndrome [RCV003586846] Chr19:1399950 [GRCh38]
Chr19:1399949 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.648A>G (p.Pro216=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV003587732] Chr19:1397422 [GRCh38]
Chr19:1397421 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.327+7C>T single nucleotide variant Cerebral creatine deficiency syndrome [RCV003746429] Chr19:1399786 [GRCh38]
Chr19:1399785 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.21C>A (p.Thr7=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV003587954] Chr19:1401456 [GRCh38]
Chr19:1401455 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.144C>T (p.Pro48=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV003747048] Chr19:1401333 [GRCh38]
Chr19:1401332 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.513C>A (p.Leu171=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV003746216] Chr19:1398973 [GRCh38]
Chr19:1398972 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.72C>A (p.Pro24=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV003747097] Chr19:1401405 [GRCh38]
Chr19:1401404 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.393G>T (p.Gly131=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV003747163] Chr19:1399194 [GRCh38]
Chr19:1399193 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.328-7C>G single nucleotide variant Cerebral creatine deficiency syndrome [RCV003746278] Chr19:1399594 [GRCh38]
Chr19:1399593 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.328-7C>T single nucleotide variant Cerebral creatine deficiency syndrome [RCV003746267] Chr19:1399594 [GRCh38]
Chr19:1399593 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.328-15T>C single nucleotide variant Cerebral creatine deficiency syndrome [RCV003746400] Chr19:1399602 [GRCh38]
Chr19:1399601 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.81C>T (p.Tyr27=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV003746317] Chr19:1401396 [GRCh38]
Chr19:1401395 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.552C>T (p.Asp184=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV003867056] Chr19:1398934 [GRCh38]
Chr19:1398933 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.678A>G (p.Pro226=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV003586897] Chr19:1397392 [GRCh38]
Chr19:1397391 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.181+8C>T single nucleotide variant Cerebral creatine deficiency syndrome [RCV003746845] Chr19:1401288 [GRCh38]
Chr19:1401287 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.39C>G (p.Gly13=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV003746983] Chr19:1401438 [GRCh38]
Chr19:1401437 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.392-9T>C single nucleotide variant Cerebral creatine deficiency syndrome [RCV003746985] Chr19:1399204 [GRCh38]
Chr19:1399203 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.69G>C (p.Ala23=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV003747005] Chr19:1401408 [GRCh38]
Chr19:1401407 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.181+12C>T single nucleotide variant Cerebral creatine deficiency syndrome [RCV003747116] Chr19:1401284 [GRCh38]
Chr19:1401283 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.327+18G>A single nucleotide variant Cerebral creatine deficiency syndrome [RCV003747435] Chr19:1399775 [GRCh38]
Chr19:1399774 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.571-12A>G single nucleotide variant Cerebral creatine deficiency syndrome [RCV003747367] Chr19:1397511 [GRCh38]
Chr19:1397510 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.328-5G>C single nucleotide variant Cerebral creatine deficiency syndrome [RCV003747450] Chr19:1399592 [GRCh38]
Chr19:1399591 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.392-11T>C single nucleotide variant Cerebral creatine deficiency syndrome [RCV003747664] Chr19:1399206 [GRCh38]
Chr19:1399205 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.369C>T (p.Thr123=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV003747636] Chr19:1399546 [GRCh38]
Chr19:1399545 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.571-5A>G single nucleotide variant Cerebral creatine deficiency syndrome [RCV003746062] Chr19:1397504 [GRCh38]
Chr19:1397503 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.264C>A (p.Ile88=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV003746174] Chr19:1399856 [GRCh38]
Chr19:1399855 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.460-15A>G single nucleotide variant Cerebral creatine deficiency syndrome [RCV003746186] Chr19:1399041 [GRCh38]
Chr19:1399040 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.328-15T>G single nucleotide variant Cerebral creatine deficiency syndrome [RCV003746381] Chr19:1399602 [GRCh38]
Chr19:1399601 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.327+14C>T single nucleotide variant Cerebral creatine deficiency syndrome [RCV003746496] Chr19:1399779 [GRCh38]
Chr19:1399778 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.222A>G (p.Ala74=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV003746785] Chr19:1399898 [GRCh38]
Chr19:1399897 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.392-14T>C single nucleotide variant Cerebral creatine deficiency syndrome [RCV003746788] Chr19:1399209 [GRCh38]
Chr19:1399208 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.328-23_328-20del deletion Cerebral creatine deficiency syndrome [RCV003747497] Chr19:1399607..1399610 [GRCh38]
Chr19:1399606..1399609 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.460-12C>G single nucleotide variant Cerebral creatine deficiency syndrome [RCV003747526] Chr19:1399038 [GRCh38]
Chr19:1399037 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.459+11C>T single nucleotide variant Cerebral creatine deficiency syndrome [RCV003747540] Chr19:1399117 [GRCh38]
Chr19:1399116 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.570+17T>C single nucleotide variant Cerebral creatine deficiency syndrome [RCV003747587] Chr19:1398899 [GRCh38]
Chr19:1398898 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.168C>T (p.Ala56=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV003747655] Chr19:1401309 [GRCh38]
Chr19:1401308 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.392-17T>G single nucleotide variant Cerebral creatine deficiency syndrome [RCV003747207] Chr19:1399212 [GRCh38]
Chr19:1399211 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.444_448del (p.Phe149fs) deletion Cerebral creatine deficiency syndrome [RCV003747228] Chr19:1399139..1399143 [GRCh38]
Chr19:1399138..1399142 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_000156.6(GAMT):c.306G>A (p.Trp102Ter) single nucleotide variant Cerebral creatine deficiency syndrome [RCV003747352] Chr19:1399814 [GRCh38]
Chr19:1399813 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_000156.6(GAMT):c.144del (p.Tyr49fs) deletion Cerebral creatine deficiency syndrome [RCV003747364] Chr19:1401333 [GRCh38]
Chr19:1401332 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_000156.6(GAMT):c.327+19G>T single nucleotide variant Cerebral creatine deficiency syndrome [RCV003746142] Chr19:1399774 [GRCh38]
Chr19:1399773 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.392-15_392-14del deletion Cerebral creatine deficiency syndrome [RCV003587621] Chr19:1399209..1399210 [GRCh38]
Chr19:1399208..1399209 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.570+11C>T single nucleotide variant Cerebral creatine deficiency syndrome [RCV003587492] Chr19:1398905 [GRCh38]
Chr19:1398904 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.666C>T (p.Tyr222=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV003588012] Chr19:1397404 [GRCh38]
Chr19:1397403 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.292C>A (p.Arg98=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV003587826] Chr19:1399828 [GRCh38]
Chr19:1399827 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.392-13G>A single nucleotide variant Cerebral creatine deficiency syndrome [RCV003586587] Chr19:1399208 [GRCh38]
Chr19:1399207 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.519C>T (p.Ser173=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV003586699] Chr19:1398967 [GRCh38]
Chr19:1398966 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.237G>A (p.Gln79=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV003586762] Chr19:1399883 [GRCh38]
Chr19:1399882 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.391+20A>G single nucleotide variant Cerebral creatine deficiency syndrome [RCV003587025] Chr19:1399504 [GRCh38]
Chr19:1399503 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.429C>T (p.Thr143=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV003587208] Chr19:1399158 [GRCh38]
Chr19:1399157 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.181+13C>G single nucleotide variant Cerebral creatine deficiency syndrome [RCV003860144] Chr19:1401283 [GRCh38]
Chr19:1401282 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.570+221G>A single nucleotide variant GAMT-related disorder [RCV003957218] Chr19:1398695 [GRCh38]
Chr19:1398694 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.403G>C (p.Asp135His) single nucleotide variant Deficiency of guanidinoacetate methyltransferase [RCV003988788] Chr19:1399184 [GRCh38]
Chr19:1399183 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_000156.6(GAMT):c.570+204C>T single nucleotide variant GAMT-related disorder [RCV003901798] Chr19:1398712 [GRCh38]
Chr19:1398711 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000156.6(GAMT):c.553A>G (p.Ile185Val) single nucleotide variant Inborn genetic diseases [RCV004392659] Chr19:1398933 [GRCh38]
Chr19:1398932 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000156.6(GAMT):c.148_149dup (p.Met50fs) microsatellite Deficiency of guanidinoacetate methyltransferase [RCV004576659] Chr19:1401327..1401328 [GRCh38]
Chr19:1401326..1401327 [GRCh37]
Chr19:19p13.3		 likely pathogenic
NC_000019.9:g.(?_1399127)_(1401720_?)del deletion Cerebral creatine deficiency syndrome [RCV004581153] Chr19:1399127..1401720 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_000156.6(GAMT):c.138G>C (p.Glu46Asp) single nucleotide variant not provided [RCV004697637] Chr19:1401339 [GRCh38]
Chr19:1401338 [GRCh37]
Chr19:19p13.3		 likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:720
Count of miRNA genes:474
Interacting mature miRNAs:513
Transcripts:ENST00000252288, ENST00000447102, ENST00000591788
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1298499UAE1_HUrinary albumin excretion QTL 1 (human)2.730.0009Urinary albumin excretionurine albumin:creatinine ratio (ACR)19116075902Human
1643451SLIPL6_HSerum lipid level QTL 6 (human)2.190.0008Lipid level19116075902Human
1581534BP76_HBlood pressure QTL 76 (human)20.001Blood pressurepulse pressure19116075902Human
1581535BP65_HBlood pressure QTL 65 (human)3.10.001Blood pressurepulse pressure19116075902Human
2314591INSUL4_HInsulin level QTL 4 (human)3.80.000038Insulin levelfasting19116075902Human
1298476BP3_HBlood pressure QTL 3 (human)2.4Blood pressuresystolic19116075902Human

Markers in Region
RH79693  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37191,397,113 - 1,397,397UniSTSGRCh37
Build 36191,348,113 - 1,348,397RGDNCBI36
Celera191,331,391 - 1,331,675RGD
Cytogenetic Map19p13.3UniSTS
HuRef191,171,966 - 1,172,250UniSTS
GeneMap99-GB4 RH Map198.11UniSTS
SGC31985  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37191,397,129 - 1,397,252UniSTSGRCh37
Build 36191,348,129 - 1,348,252RGDNCBI36
Celera191,331,407 - 1,331,530RGD
Cytogenetic Map19p13.3UniSTS
HuRef191,171,982 - 1,172,105UniSTS
Whitehead-RH Map197.2UniSTS
D15S702E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37191,398,946 - 1,399,027UniSTSGRCh37
Build 36191,349,946 - 1,350,027RGDNCBI36
Celera191,333,224 - 1,333,305RGD
Cytogenetic Map19p13.3UniSTS
HuRef191,173,799 - 1,173,880UniSTS
GAMT__6784  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37191,398,446 - 1,398,949UniSTSGRCh37
Build 36191,349,446 - 1,349,949RGDNCBI36
Celera191,332,724 - 1,333,227RGD
HuRef191,173,299 - 1,173,802UniSTS


Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_138924 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC005329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF086508 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF188893 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH007255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297487 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC016760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017936 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI914772 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM994704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT007034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU794612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X90526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z49878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000252288   ⟹   ENSP00000252288
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl191,397,026 - 1,401,542 (-)Ensembl
Ensembl Acc Id: ENST00000447102   ⟹   ENSP00000403536
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl191,397,811 - 1,401,570 (-)Ensembl
Ensembl Acc Id: ENST00000591788   ⟹   ENSP00000466341
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl191,398,600 - 1,399,802 (-)Ensembl
Ensembl Acc Id: ENST00000640164
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl191,397,383 - 1,399,747 (-)Ensembl
Ensembl Acc Id: ENST00000640762   ⟹   ENSP00000492031
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl191,397,268 - 1,401,494 (-)Ensembl
RefSeq Acc Id: NM_000156   ⟹   NP_000147
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,397,026 - 1,401,542 (-)NCBI
GRCh37191,397,025 - 1,401,569 (-)NCBI
Build 36191,348,088 - 1,352,552 (-)NCBI Archive
HuRef191,171,878 - 1,176,401 (-)NCBI
CHM1_1191,397,126 - 1,401,670 (-)NCBI
T2T-CHM13v2.0191,367,024 - 1,371,540 (-)NCBI
Sequence:
RefSeq Acc Id: NM_138924   ⟹   NP_620279
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,397,815 - 1,401,542 (-)NCBI
GRCh37191,397,025 - 1,401,569 (-)NCBI
Build 36191,349,602 - 1,352,552 (-)NCBI Archive
HuRef191,171,878 - 1,176,401 (-)NCBI
CHM1_1191,397,911 - 1,401,670 (-)NCBI
T2T-CHM13v2.0191,367,813 - 1,371,540 (-)NCBI
Sequence:
RefSeq Acc Id: NP_000147   ⟸   NM_000156
- Peptide Label: isoform a
- UniProtKB: Q53Y34 (UniProtKB/Swiss-Prot),   A8K0A0 (UniProtKB/Swiss-Prot),   Q8WVJ1 (UniProtKB/Swiss-Prot),   Q14353 (UniProtKB/Swiss-Prot),   V9HWB2 (UniProtKB/TrEMBL),   A0A1W2PR36 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_620279   ⟸   NM_138924
- Peptide Label: isoform b
- UniProtKB: Q14353 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000252288   ⟸   ENST00000252288
Ensembl Acc Id: ENSP00000492031   ⟸   ENST00000640762
Ensembl Acc Id: ENSP00000403536   ⟸   ENST00000447102
Ensembl Acc Id: ENSP00000466341   ⟸   ENST00000591788
Protein Domains
RMT2

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q14353-F1-model_v2 AlphaFold Q14353 1-236 view protein structure

Promoters
RGD ID:6795589
Promoter ID:HG_KWN:28391
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   K562,   Lymphoblastoid
Transcripts:NM_000156,   NM_138924
Position:
Human AssemblyChrPosition (strand)Source
Build 36191,352,256 - 1,352,756 (-)MPROMDB
RGD ID:7237825
Promoter ID:EPDNEW_H24658
Type:initiation region
Name:GAMT_1
Description:guanidinoacetate N-methyltransferase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,401,532 - 1,401,592EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4136 AgrOrtholog
COSMIC GAMT COSMIC
Ensembl Genes ENSG00000130005 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000252288 ENTREZGENE
  ENST00000252288.8 UniProtKB/Swiss-Prot
  ENST00000447102 ENTREZGENE
  ENST00000447102.8 UniProtKB/Swiss-Prot
  ENST00000591788.3 UniProtKB/TrEMBL
  ENST00000640762.1 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.150 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000130005 GTEx
HGNC ID HGNC:4136 ENTREZGENE
Human Proteome Map GAMT Human Proteome Map
InterPro GuanidinoAc_N-MeTrfase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RMT2/GAMT_Mtase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RMT2_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM-dependent_MTases UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2593 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 2593 ENTREZGENE
OMIM 601240 OMIM
PANTHER GUANIDINOACETATE N-METHYLTRANSFERASE UniProtKB/Swiss-Prot
  GUANIDINOACETATE N-METHYLTRANSFERASE UniProtKB/Swiss-Prot
  GUANIDINOACETATE N-METHYLTRANSFERASE UniProtKB/TrEMBL
  GUANIDINOACETATE N-METHYLTRANSFERASE UniProtKB/TrEMBL
PharmGKB PA28549 PharmGKB
PIRSF GAMT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE SAM_RMT2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53335 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A1W2PR36 ENTREZGENE, UniProtKB/TrEMBL
  A8K0A0 ENTREZGENE
  GAMT_HUMAN UniProtKB/Swiss-Prot
  K7EM34_HUMAN UniProtKB/TrEMBL
  Q14353 ENTREZGENE
  Q53Y34 ENTREZGENE
  Q8WVJ1 ENTREZGENE
  V9HWB2 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary A8K0A0 UniProtKB/Swiss-Prot
  Q53Y34 UniProtKB/Swiss-Prot
  Q8WVJ1 UniProtKB/Swiss-Prot