GAMT (guanidinoacetate N-methyltransferase) - Rat Genome Database
Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Gene: GAMT (guanidinoacetate N-methyltransferase) Homo sapiens
Analyze
Symbol: GAMT
Name: guanidinoacetate N-methyltransferase
RGD ID: 732024
HGNC Page HGNC
Description: Exhibits guanidinoacetate N-methyltransferase activity. Involved in creatine biosynthetic process. Predicted to localize to cytosol. Implicated in amino acid metabolic disorder and guanidinoacetate methyltransferase deficiency.
Type: protein-coding
RefSeq Status: REVIEWED
Also 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 Genes
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
GRCh38.p13 Ensembl191,397,026 - 1,401,570 (-)EnsemblGRCh38hg38GRCh38
GRCh38191,397,026 - 1,401,542 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37191,397,025 - 1,401,541 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36191,348,088 - 1,352,552 (-)NCBINCBI36hg18NCBI36
Build 34191,349,607 - 1,352,552NCBI
Celera191,331,366 - 1,335,830 (-)NCBI
Cytogenetic Map19p13.3NCBI
HuRef191,171,878 - 1,176,401 (-)NCBIHuRef
CHM1_1191,397,126 - 1,401,670 (-)NCBICHM1_1
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)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-dinitrotoluene  (ISO)
2-hydroxypropanoic acid  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3',5,5'-tetrabromobisphenol A  (ISO)
4,4'-diaminodiphenylmethane  (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)
ammonia  (EXP)
ammonium chloride  (ISO)
benzbromarone  (ISO)
benzo[a]pyrene  (EXP,ISO)
bis(2-chloroethyl) sulfide  (EXP)
bisphenol A  (EXP,ISO)
bromobenzene  (ISO)
butanal  (EXP)
carbon nanotube  (ISO)
carmustine  (EXP)
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)
cyclophosphamide  (EXP)
cyclosporin A  (EXP,ISO)
dexamethasone  (ISO)
dibutyl phthalate  (ISO)
diiodine  (ISO)
doxorubicin  (EXP)
entinostat  (EXP)
ethyl methanesulfonate  (EXP)
gentamycin  (ISO)
Heliotrine  (EXP)
hydralazine  (EXP)
irinotecan  (ISO)
L-ascorbic acid  (ISO)
L-ethionine  (ISO)
lead(0)  (EXP)
lead(2+)  (EXP)
methotrexate  (EXP)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
mono(2-ethylhexyl) phthalate  (ISO)
N-nitrosodiethylamine  (ISO)
omeprazole  (ISO)
paclitaxel  (EXP)
paracetamol  (EXP,ISO)
phenobarbital  (ISO)
phenylephrine  (ISO)
pirinixic acid  (EXP,ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
propanal  (EXP)
rac-lactic acid  (EXP)
Senkirkine  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (ISO)
sodium fluoride  (ISO)
sodium perchlorate  (ISO)
tauroursodeoxycholic acid  (ISO)
testosterone  (ISO)
tetrachloroethene  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (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

References

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  


Genomics

Comparative Map Data
GAMT
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl191,397,026 - 1,401,570 (-)EnsemblGRCh38hg38GRCh38
GRCh38191,397,026 - 1,401,542 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37191,397,025 - 1,401,541 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36191,348,088 - 1,352,552 (-)NCBINCBI36hg18NCBI36
Build 34191,349,607 - 1,352,552NCBI
Celera191,331,366 - 1,335,830 (-)NCBI
Cytogenetic Map19p13.3NCBI
HuRef191,171,878 - 1,176,401 (-)NCBIHuRef
CHM1_1191,397,126 - 1,401,670 (-)NCBICHM1_1
Gamt
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391080,093,985 - 80,096,846 (-)NCBIGRCm39mm39
GRCm39 Ensembl1080,093,985 - 80,096,846 (-)Ensembl
GRCm381080,258,151 - 80,261,025 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1080,258,151 - 80,261,012 (-)EnsemblGRCm38mm10GRCm38
MGSCv371079,720,896 - 79,723,713 (-)NCBIGRCm37mm9NCBIm37
MGSCv361079,661,328 - 79,664,141 (-)NCBImm8
Celera1081,273,024 - 81,275,841 (-)NCBICelera
Cytogenetic Map10C1NCBI
cM Map1039.72NCBI
Gamt
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.279,448,590 - 9,451,778 (+)NCBI
Rnor_6.0 Ensembl712,314,848 - 12,317,998 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0712,314,848 - 12,317,998 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0712,484,097 - 12,487,698 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4710,959,990 - 10,962,720 (+)NCBIRGSC3.4rn4RGSC3.4
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
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
Gamt
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
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 - 77,079,766 (+)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 - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.161,165,016 - 1,178,458 (-)NCBI
ChlSab1.1 Ensembl61,164,259 - 1,178,354 (-)Ensembl
Gamt
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248287,294,380 - 7,297,787 (+)NCBI

Position Markers
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

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.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 5 5 5 2 2 2
Medium 891 1950 1639 590 667 455 3683 1578 3664 348 1208 1065 146 1 539 2506 3 2
Low 1513 1003 82 29 1228 5 672 615 70 69 250 546 29 665 280 3
Below cutoff 31 38 54 2 1 1 2

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
  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

Reference Sequences
RefSeq Acc Id: ENST00000252288   ⟹   ENSP00000252288
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl191,397,026 - 1,401,542 (-)Ensembl
RefSeq Acc Id: ENST00000447102   ⟹   ENSP00000403536
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl191,397,811 - 1,401,570 (-)Ensembl
RefSeq Acc Id: ENST00000591788   ⟹   ENSP00000466341
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl191,398,600 - 1,399,802 (-)Ensembl
RefSeq Acc Id: ENST00000640164
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl191,397,383 - 1,399,747 (-)Ensembl
RefSeq Acc Id: ENST00000640762   ⟹   ENSP00000492031
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 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
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
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000147   ⟸   NM_000156
- Peptide Label: isoform a
- UniProtKB: Q14353 (UniProtKB/Swiss-Prot),   V9HWB2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_620279   ⟸   NM_138924
- Peptide Label: isoform b
- UniProtKB: Q14353 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000252288   ⟸   ENST00000252288
RefSeq Acc Id: ENSP00000492031   ⟸   ENST00000640762
RefSeq Acc Id: ENSP00000403536   ⟸   ENST00000447102
RefSeq Acc Id: ENSP00000466341   ⟸   ENST00000591788
Protein Domains
RMT2

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

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 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 not provided [RCV000519993] Chr19:1399803 [GRCh38]
Chr19:1399802 [GRCh37]
Chr19:19p13.3
likely pathogenic
NM_000156.6(GAMT):c.141C>A (p.Thr47=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000557510]|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]|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 Deficiency of guanidinoacetate methyltransferase [RCV000020142] Chr19:1399149 [GRCh38]
Chr19:1399148 [GRCh37]
Chr19:19p13.3
benign
NM_000156.6(GAMT):c.460-31G>A single nucleotide variant Deficiency of guanidinoacetate methyltransferase [RCV000020143]|not provided [RCV000829815] Chr19:1399057 [GRCh38]
Chr19:1399056 [GRCh37]
Chr19:19p13.3
benign
NM_000156.6(GAMT):c.626C>T (p.Thr209Met) single nucleotide variant Deficiency of guanidinoacetate methyltransferase [RCV000020144]|History of neurodevelopmental disorder [RCV000715403]|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] 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]|not provided [RCV000986201] Chr19:1401418 [GRCh38]
Chr19:1401417 [GRCh37]
Chr19:19p13.3
pathogenic
NM_000156.6(GAMT):c.506G>A (p.Cys169Tyr) single nucleotide variant Deficiency of guanidinoacetate methyltransferase [RCV000008802] Chr19:1398980 [GRCh38]
Chr19:1398979 [GRCh37]
Chr19:19p13.3
pathogenic
NM_000156.6(GAMT):c.148A>C (p.Met50Leu) single nucleotide variant Deficiency of guanidinoacetate methyltransferase [RCV000008803] Chr19:1401329 [GRCh38]
Chr19:1401328 [GRCh37]
Chr19:19p13.3
pathogenic
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 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 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]|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]|History of neurodevelopmental disorder [RCV000720558]|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]|History of neurodevelopmental disorder [RCV000716917]|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 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 Deficiency of guanidinoacetate methyltransferase [RCV001272267]|not provided [RCV000514004] Chr19:1397401..1397402 [GRCh38]
Chr19:1397400..1397401 [GRCh37]
Chr19:19p13.3
uncertain significance
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]|History of neurodevelopmental disorder [RCV000718736]|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]|Guanidinoacetate methyltransferase (GAMT) deficiency [RCV001009545]|History of neurodevelopmental disorder [RCV000718439]|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 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.160_162GCC[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.262_264ATC[1] (p.Ile89del) microsatellite Cerebral creatine deficiency syndrome [RCV000802086]|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 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 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_000156.5(GAMT):c.1A>G (p.Met1Val) single nucleotide variant not provided [RCV000187576] Chr19:1401476 [GRCh38]
Chr19:1401475 [GRCh37]
Chr19:19p13.3
pathogenic
NM_000156.6(GAMT):c.677C>T (p.Pro226Leu) single nucleotide variant 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 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 not provided [RCV000187584] Chr19:1401409 [GRCh38]
Chr19:1401408 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_000156.5(GAMT):c.92A>T (p.Asp31Val) single nucleotide variant not specified [RCV000187585] 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 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 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 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]|History of neurodevelopmental disorder [RCV000715738]|not specified [RCV000187552] 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]|History of neurodevelopmental disorder [RCV000720887] 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]|not provided [RCV000187560] Chr19:1399878 [GRCh38]
Chr19:1399877 [GRCh37]
Chr19:19p13.3
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]|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 not provided [RCV000187565] Chr19:1399587 [GRCh38]
Chr19:1399586 [GRCh37]
Chr19:19p13.3
likely pathogenic
NM_000156.6(GAMT):c.491G>A (p.Gly164Asp) single nucleotide variant not provided [RCV000187566] Chr19:1398995 [GRCh38]
Chr19:1398994 [GRCh37]
Chr19:19p13.3
pathogenic
NM_000156.6(GAMT):c.575C>T (p.Thr192Met) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000807491]|Deficiency of guanidinoacetate methyltransferase [RCV001124347]|History of neurodevelopmental disorder [RCV000716832]|not provided [RCV000711734] Chr19:1397495 [GRCh38]
Chr19:1397494 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_000156.6(GAMT):c.511C>G (p.Leu171Val) single nucleotide variant 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]|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]|not specified [RCV000187573] Chr19:1397483 [GRCh38]
Chr19:1397482 [GRCh37]
Chr19:19p13.3
likely benign|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]|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]|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]|not provided [RCV000732178]|not specified [RCV000187578] Chr19:1397400 [GRCh38]
Chr19:1397399 [GRCh37]
Chr19:19p13.3
likely benign|uncertain significance
NM_000156.6(GAMT):c.689C>T (p.Thr230Met) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000814698]|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]|History of neurodevelopmental disorder [RCV000719421]|not provided [RCV000711736]|not specified [RCV000187581] Chr19:1397363 [GRCh38]
Chr19:1397362 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_000156.6(GAMT):c.22C>A (p.Pro8Thr) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000815633]|Deficiency of guanidinoacetate methyltransferase [RCV001127428]|History of neurodevelopmental disorder [RCV000720702]|not specified [RCV000187583] Chr19:1401455 [GRCh38]
Chr19:1401454 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_000156.6(GAMT):c.124A>G (p.Met42Val) single nucleotide variant 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]|History of neurodevelopmental disorder [RCV000719080]|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] 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]|History of neurodevelopmental disorder [RCV000717731]|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] Chr19:1399909 [GRCh38]
Chr19:1399908 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_000156.6(GAMT):c.642G>A (p.Leu214=) single nucleotide variant 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 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]|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]|History of neurodevelopmental disorder [RCV000717730]|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 not provided [RCV000489257] Chr19:1399825 [GRCh38]
Chr19:1399824 [GRCh37]
Chr19:19p13.3
uncertain significance
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] Chr19:1397208 [GRCh38]
Chr19:1397207 [GRCh37]
Chr19:19p13.3
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] 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] Chr19:1397083 [GRCh38]
Chr19:1397082 [GRCh37]
Chr19:19p13.3
likely benign
NM_000156.6(GAMT):c.328-10C>T single nucleotide variant Cerebral creatine deficiency syndrome [RCV000551075]|Deficiency of guanidinoacetate methyltransferase [RCV000264765]|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 specified [RCV000430523] 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 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] Chr19:1401457 [GRCh38]
Chr19:1401456 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_000156.6(GAMT):c.419C>T (p.Ser140Leu) single nucleotide variant Deficiency of guanidinoacetate methyltransferase [RCV000353046] 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] Chr19:1397048 [GRCh38]
Chr19:1397047 [GRCh37]
Chr19:19p13.3
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 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] Chr19:1399013 [GRCh38]
Chr19:1399012 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_000156.6(GAMT):c.570+133G>A single nucleotide variant not specified [RCV000420756] Chr19:1398783 [GRCh38]
Chr19:1398782 [GRCh37]
Chr19:19p13.3
likely benign
NM_000156.6(GAMT):c.459+17T>C single nucleotide variant 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 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 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 not specified [RCV000434834] 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 specified [RCV000424598] Chr19:1401324 [GRCh38]
Chr19:1401323 [GRCh37]
Chr19:19p13.3
likely benign
NM_000156.6(GAMT):c.481A>T (p.Lys161Ter) single nucleotide variant not provided [RCV000420204] Chr19:1399005 [GRCh38]
Chr19:1399004 [GRCh37]
Chr19:19p13.3
likely pathogenic
NM_000156.6(GAMT):c.314G>A (p.Arg105Gln) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000655368]|Deficiency of guanidinoacetate methyltransferase [RCV001275204]|not specified [RCV000432527] 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]|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]|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 specified [RCV000427104] 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]|History of neurodevelopmental disorder [RCV000718874]|not provided [RCV000497566] Chr19:1398964..1398965 [GRCh38]
Chr19:1398963..1398964 [GRCh37]
Chr19:19p13.3
likely pathogenic|uncertain significance
NM_000156.6(GAMT):c.292C>T (p.Arg98Trp) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001244364]|Deficiency of guanidinoacetate methyltransferase [RCV001275206]|History of neurodevelopmental disorder [RCV000720466]|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 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 not provided [RCV000493730] Chr19:1399177 [GRCh38]
Chr19:1399176 [GRCh37]
Chr19:19p13.3
likely pathogenic
NM_000156.6(GAMT):c.151C>G (p.His51Asp) single nucleotide variant 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 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] Chr19:1398755 [GRCh38]
Chr19:1398754 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_000156.6(GAMT):c.372G>C (p.Leu124=) single nucleotide variant 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 not specified [RCV000601307] Chr19:1399116..1399119 [GRCh38]
Chr19:1399115..1399118 [GRCh37]
Chr19:19p13.3
likely benign
NM_000156.6(GAMT):c.639G>A (p.Ala213=) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000540532] 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 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 not provided [RCV000527947]|not specified [RCV000603340] Chr19:1397506 [GRCh38]
Chr19:1397505 [GRCh37]
Chr19:19p13.3
likely benign
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 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] Chr19:1399896 [GRCh38]
Chr19:1399895 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_000156.6(GAMT):c.701C>T (p.Thr234Ile) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000655357] 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] 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] 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] 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] Chr19:1399180 [GRCh38]
Chr19:1399179 [GRCh37]
Chr19:19p13.3
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] Chr19:1399509 [GRCh38]
Chr19:1399508 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_000156.6(GAMT):c.462C>G (p.Asn154Lys) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000655366] 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] 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 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 not provided [RCV000898972]|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] 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] Chr19:1401327 [GRCh38]
Chr19:1401326 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_000156.6(GAMT):c.316C>T (p.Gln106Ter) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000686487]|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] Chr19:1398912 [GRCh38]
Chr19:1398911 [GRCh37]
Chr19:19p13.3
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] Chr19:1399184 [GRCh38]
Chr19:1399183 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_000156.6(GAMT):c.415C>T (p.Leu139Phe) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000693034] Chr19:1399172 [GRCh38]
Chr19:1399171 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_000156.6(GAMT):c.465C>T (p.His155=) single nucleotide variant History of neurodevelopmental disorder [RCV000717318] 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] 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] 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]|History of neurodevelopmental disorder [RCV000718233] 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]|History of neurodevelopmental disorder [RCV000717809] 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 History of neurodevelopmental disorder [RCV000718738] Chr19:1399022 [GRCh38]
Chr19:1399021 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_000156.6(GAMT):c.384C>T (p.His128=) single nucleotide variant History of neurodevelopmental disorder [RCV000720476] Chr19:1399531 [GRCh38]
Chr19:1399530 [GRCh37]
Chr19:19p13.3
likely benign
NM_000156.6(GAMT):c.122T>C (p.Val41Ala) single nucleotide variant History of neurodevelopmental disorder [RCV000720266] 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 Deficiency of guanidinoacetate methyltransferase [RCV000857223] Chr19:1401332 [GRCh38]
Chr19:1401331 [GRCh37]
Chr19:19p13.3
pathogenic
NM_000156.6(GAMT):c.392-9T>G single nucleotide variant Cerebral creatine deficiency syndrome [RCV001065097] Chr19:1399204 [GRCh38]
Chr19:1399203 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_000156.6(GAMT):c.491del (p.Gly164fs) deletion Deficiency of guanidinoacetate methyltransferase [RCV001030778] 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 not provided [RCV000986199] Chr19:1399196 [GRCh38]
Chr19:1399195 [GRCh37]
Chr19:19p13.3
likely pathogenic
NM_000156.6(GAMT):c.675C>T (p.Phe225=) single nucleotide variant not provided [RCV000926496] Chr19:1397395 [GRCh38]
Chr19:1397394 [GRCh37]
Chr19:19p13.3
likely benign
NM_000156.6(GAMT):c.408G>A (p.Thr136=) single nucleotide variant not provided [RCV000867992] 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] 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.434_435AC[3] (p.His147fs) microsatellite Cerebral creatine deficiency syndrome [RCV001060114] Chr19:1399146..1399147 [GRCh38]
Chr19:1399145..1399146 [GRCh37]
Chr19:19p13.3
pathogenic
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 not provided [RCV000944352] 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] 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] Chr19:1399201 [GRCh38]
Chr19:1399200 [GRCh37]
Chr19:19p13.3
likely benign
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.172_174TCC[3] (p.Ser59dup) microsatellite Cerebral creatine deficiency syndrome [RCV000793456] 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] 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 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] 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] 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
uncertain significance
NM_000156.6(GAMT):c.220G>A (p.Ala74Thr) single nucleotide variant Cerebral creatine deficiency syndrome [RCV000806501] 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] 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] Chr19:1399838 [GRCh38]
Chr19:1399837 [GRCh37]
Chr19:19p13.3
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 not provided [RCV000979346] 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 not provided [RCV001171628] Chr19:1399852 [GRCh38]
Chr19:1399851 [GRCh37]
Chr19:19p13.3
pathogenic
NM_000156.6(GAMT):c.586G>A (p.Ala196Thr) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001247143] 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] 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] 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] Chr19:1401385..1401386 [GRCh38]
Chr19:1401384..1401385 [GRCh37]
Chr19:19p13.3
pathogenic
NM_000156.6(GAMT):c.106A>G (p.Ile36Val) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001241167] 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] 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] 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
likely pathogenic
NM_000156.6(GAMT):c.327+5C>T single nucleotide variant Cerebral creatine deficiency syndrome [RCV001235847] Chr19:1399788 [GRCh38]
Chr19:1399787 [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] Chr19:1401436 [GRCh38]
Chr19:1401435 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_000156.6(GAMT):c.505T>C (p.Cys169Arg) single nucleotide variant Deficiency of guanidinoacetate methyltransferase [RCV001009565] Chr19:1398981 [GRCh38]
Chr19:1398980 [GRCh37]
Chr19:19p13.3
not provided
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] 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] Chr19:1399837 [GRCh38]
Chr19:1399836 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_000156.6(GAMT):c.521G>A (p.Trp174Ter) single nucleotide variant 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] Chr19:1399019 [GRCh38]
Chr19:1399018 [GRCh37]
Chr19:19p13.3
uncertain significance
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.328-1G>A single nucleotide variant Cerebral creatine deficiency syndrome [RCV001047942] Chr19:1399588 [GRCh38]
Chr19:1399587 [GRCh37]
Chr19:19p13.3
likely pathogenic
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.301del (p.Asp101fs) deletion Cerebral creatine deficiency syndrome [RCV001059955] Chr19:1399819 [GRCh38]
Chr19:1399818 [GRCh37]
Chr19:19p13.3
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
NC_000019.10:g.1401555C>T 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] Chr19:1399859 [GRCh38]
Chr19:1399858 [GRCh37]
Chr19:19p13.3
pathogenic
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] Chr19:1401453 [GRCh38]
Chr19:1401452 [GRCh37]
Chr19:19p13.3
pathogenic
NM_000156.6(GAMT):c.328-2A>G single nucleotide variant Cerebral creatine deficiency syndrome [RCV001059066] Chr19:1399589 [GRCh38]
Chr19:1399588 [GRCh37]
Chr19:19p13.3
likely pathogenic
NM_000156.6(GAMT):c.402C>G (p.Tyr134Ter) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001218543] 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] 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] Chr19:1397290 [GRCh38]
Chr19:1397289 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_000156.6(GAMT):c.372G>A (p.Leu124=) single nucleotide variant Deficiency of guanidinoacetate methyltransferase [RCV001127000] Chr19:1399543 [GRCh38]
Chr19:1399542 [GRCh37]
Chr19:19p13.3
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] 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] Chr19:1399940 [GRCh38]
Chr19:1399939 [GRCh37]
Chr19:19p13.3
likely pathogenic
NM_000156.6(GAMT):c.638C>T (p.Ala213Val) single nucleotide variant Cerebral creatine deficiency syndrome [RCV001246130] Chr19:1397432 [GRCh38]
Chr19:1397431 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_000156.6(GAMT):c.392-2A>G single nucleotide variant Intellectual disability [RCV001251993] Chr19:1399197 [GRCh38]
Chr19:1399196 [GRCh37]
Chr19:19p13.3
likely benign
NM_000156.6(GAMT):c.437C>G (p.Thr146Arg) single nucleotide variant Seizures [RCV001256148] Chr19:1399150 [GRCh38]
Chr19:1399149 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_000156.6(GAMT):c.442dup (p.Gln148fs) duplication Deficiency of guanidinoacetate methyltransferase [RCV001262463] Chr19:1399144..1399145 [GRCh38]
Chr19:1399143..1399144 [GRCh37]
Chr19:19p13.3
pathogenic

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 Protein ENSP00000252288 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000403536 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000466341 UniProtKB/TrEMBL
  ENSP00000492031 UniProtKB/TrEMBL
Ensembl Transcript ENST00000252288 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000447102 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000591788 UniProtKB/TrEMBL
  ENST00000640762 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_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
  612736 OMIM
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_HUMAN UniProtKB/TrEMBL
  GAMT_HUMAN UniProtKB/Swiss-Prot
  K7EM34_HUMAN UniProtKB/TrEMBL
  Q14353 ENTREZGENE
  V9HWB2 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary A8K0A0 UniProtKB/Swiss-Prot
  Q53Y34 UniProtKB/Swiss-Prot
  Q8WVJ1 UniProtKB/Swiss-Prot