Total 89 pathogenic variants reported for Deficiency of guanidinoacetate methyltransferase 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000156.6(GAMT):c.59G>C (p.Trp20Ser) SNV
Germline		 Chr19:1401418 Pathogenic Deficiency of guanidinoacetate methyltransferase
Cerebral creatine deficiency syndrome
Condition: not provided
See cases
Inborn genetic diseases		 Reviewed By Expert Panel
 CA340769 rs_80338734

15 SubmittersRCV000008801RCV000799554RCV000986201RCV002251891RCV002354153
NM_000156.6(GAMT):c.506G>A (p.Cys169Tyr) SNV
Germline		 Chr19:1398980 Likely pathogenic Deficiency of guanidinoacetate methyltransferase
Cerebral creatine deficiency syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA254379 rs_121909272

9 SubmittersRCV000008802RCV001762039RCV004700204
NM_000156.6(GAMT):c.148A>C (p.Met50Leu) SNV
Germline		 Chr19:1401329 Likely pathogenic Deficiency of guanidinoacetate methyltransferase
Cerebral creatine deficiency syndrome		 Reviewed By Expert Panel
 CA254380 rs_104894694

5 SubmittersRCV000008803RCV001851745
NM_000156.6(GAMT):c.327G>A (p.Lys109=) SNV
Germline		 Chr19:1399793 Pathogenic Deficiency of guanidinoacetate methyltransferase
Condition: not provided
Cerebral creatine deficiency syndrome
Inborn genetic diseases		 Reviewed By Expert Panel
 CA314804 rs_80338735

19 SubmittersRCV000020141RCV000187564RCV000655367RCV002513136
NM_000156.6(GAMT):c.526G>T (p.Glu176Ter) SNV
Germline		 Chr19:1398960 Likely pathogenic Condition: not provided
Cerebral creatine deficiency syndrome
Deficiency of guanidinoacetate methyltransferase		 Criteria Provided
Multiple Submitters
No Conflicts
 CA314816 rs_796052525

3 SubmittersRCV000187571RCV001378842RCV001833115
NM_000156.6(GAMT):c.522G>A (p.Trp174Ter) SNV
Germline		 Chr19:1398964 Pathogenic Condition: not provided
Deficiency of guanidinoacetate methyltransferase
Cerebral creatine deficiency syndrome
GAMT-related disorder		 Reviewed By Expert Panel
 CA314812 rs_370421531

13 SubmittersRCV000187569RCV000316896RCV000539751RCV003907657
NM_000156.6(GAMT):c.491G>A (p.Gly164Asp) SNV
Germline		 Chr19:1398995 Likely pathogenic Condition: not provided
Cerebral creatine deficiency syndrome
not specified
Deficiency of guanidinoacetate methyltransferase
Inborn genetic diseases		 Reviewed By Expert Panel
 CA314807 rs_760101382

7 SubmittersRCV000187566RCV001300727RCV001731508RCV002305456RCV002345673
NM_000156.6(GAMT):c.328G>T (p.Val110Phe) SNV
Germline		 Chr19:1399587 Likely pathogenic Condition: not provided
Deficiency of guanidinoacetate methyltransferase
Cerebral creatine deficiency syndrome		 Reviewed By Expert Panel
 CA314806 rs_753198836

3 SubmittersRCV000187565RCV002305455RCV002517861
NM_000156.6(GAMT):c.298C>T (p.Arg100Trp) SNV
Germline		 Chr19:1399822 Conflicting classifications of pathogenicity Condition: not provided
Cerebral creatine deficiency syndrome
Deficiency of guanidinoacetate methyltransferase
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA314802 rs_552210450

6 SubmittersRCV000187563RCV001085182RCV001275205RCV002433841
NM_000156.6(GAMT):c.242C>T (p.Ala81Val) SNV
Germline		 Chr19:1399878 Conflicting classifications of pathogenicity Condition: not provided
Cerebral creatine deficiency syndrome
Deficiency of guanidinoacetate methyltransferase
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA314796 rs_751099274

4 SubmittersRCV000187560RCV001088002RCV001127003RCV002453689
NM_000156.6(GAMT):c.1A>G (p.Met1Val) SNV
Germline		 Chr19:1401476 Likely pathogenic Deficiency of guanidinoacetate methyltransferase
Cerebral creatine deficiency syndrome		 Reviewed By Expert Panel
 rs_796052527

3 SubmittersRCV001329066RCV002516992
NM_000156.6(GAMT):c.419C>A (p.Ser140Ter) SNV
Germline		 Chr19:1399168 Likely pathogenic Deficiency of guanidinoacetate methyltransferase
Cerebral creatine deficiency syndrome		 Reviewed By Expert Panel
 CA402995274 rs_747656257

3 SubmittersRCV000490258RCV001211627
NM_000156.6(GAMT):c.182G>A (p.Gly61Glu) SNV
Germline		 Chr19:1399938 Conflicting classifications of pathogenicity Deficiency of guanidinoacetate methyltransferase
Condition: not provided
Cerebral creatine deficiency syndrome		 Criteria Provided
Conflicting Classifications
 CA9043773 rs_77168423

4 SubmittersRCV000289407RCV000480090RCV000550292
NM_000156.6(GAMT):c.396C>A (p.Ile132=) SNV
Germline		 Chr19:1399191 Conflicting classifications of pathogenicity Deficiency of guanidinoacetate methyltransferase
Cerebral creatine deficiency syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA9043674 rs_200500835

5 SubmittersRCV000267848RCV000470375RCV001532364
NM_000156.6(GAMT):c.133T>A (p.Trp45Arg) SNV
Germline		 Chr19:1401344 Pathogenic Deficiency of guanidinoacetate methyltransferase
Cerebral creatine deficiency syndrome
Inborn genetic diseases		 Reviewed By Expert Panel
 CA10651554 rs_886054247

7 SubmittersRCV000389374RCV001224201RCV004984825
NM_000156.6(GAMT):c.481A>T (p.Lys161Ter) SNV
Germline		 Chr19:1399005 Likely pathogenic Condition: not provided
Deficiency of guanidinoacetate methyltransferase
Cerebral creatine deficiency syndrome		 Reviewed By Expert Panel
 CA16608969 rs_1057524499

5 SubmittersRCV000420204RCV003159118RCV001389010
NM_000156.6(GAMT):c.314G>A (p.Arg105Gln) SNV
Germline		 Chr19:1399806 Conflicting classifications of pathogenicity Condition: not provided
Deficiency of guanidinoacetate methyltransferase
Cerebral creatine deficiency syndrome		 Criteria Provided
Conflicting Classifications
 CA9043741 rs_148838075

3 SubmittersRCV001721430RCV001275204RCV000655368
NM_000156.6(GAMT):c.315G>A (p.Arg105=) SNV
Germline		 Chr19:1399805 Conflicting classifications of pathogenicity not specified
Deficiency of guanidinoacetate methyltransferase
Cerebral creatine deficiency syndrome		 Criteria Provided
Conflicting Classifications
 CA9043740 rs_559092619

3 SubmittersRCV000599783RCV001127001RCV001410989
NM_000156.6(GAMT):c.224C>T (p.Ala75Val) SNV
Germline		 Chr19:1399896 Pathogenic Cerebral creatine deficiency syndrome
Deficiency of guanidinoacetate methyltransferase		 Reviewed By Expert Panel
 CA402996954 rs_1441030187

6 SubmittersRCV000655356RCV001835900
NM_000156.6(GAMT):c.407C>T (p.Thr136Met) SNV
Germline		 Chr19:1399180 Pathogenic Deficiency of guanidinoacetate methyltransferase
Cerebral creatine deficiency syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA9043669 rs_374724533

9 SubmittersRCV001253217RCV000655363RCV001566324
NM_000156.6(GAMT):c.403G>A (p.Asp135Asn) SNV
Germline		 Chr19:1399184 Pathogenic Cerebral creatine deficiency syndrome
Deficiency of guanidinoacetate methyltransferase		 Reviewed By Expert Panel
 rs_774144200

7 SubmittersRCV000694724RCV001784322
NM_000156.6(GAMT):c.316C>T (p.Gln106Ter) SNV
Germline		 Chr19:1399804 Pathogenic Cerebral creatine deficiency syndrome
Condition: not provided
Deficiency of guanidinoacetate methyltransferase
Abnormality of the nervous system		 Reviewed By Expert Panel
 rs_1369786965

6 SubmittersRCV000686487RCV000986200RCV001553736RCV001814217
NM_000156.6(GAMT):c.391+1G>C SNV
Germline		 Chr19:1399523 Likely pathogenic Cerebral creatine deficiency syndrome
Deficiency of guanidinoacetate methyltransferase		 Reviewed By Expert Panel
 rs_1600158894

2 SubmittersRCV000822144RCV002305546
NM_000156.6(GAMT):c.521G>A (p.Trp174Ter) SNV
Germline		 Chr19:1398965 Pathogenic Condition: not provided
Cerebral creatine deficiency syndrome
Deficiency of guanidinoacetate methyltransferase		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_200444143

5 SubmittersRCV000986197RCV001386710RCV001827125
NM_000156.6(GAMT):c.505T>C (p.Cys169Arg) SNV
Germline		 Chr19:1398981 Pathogenic Deficiency of guanidinoacetate methyltransferase
Cerebral creatine deficiency syndrome
not specified		 Reviewed By Expert Panel
 rs_1600158346

4 SubmittersRCV001009565RCV001860605RCV003490008
NM_000156.6(GAMT):c.261G>A (p.Trp87Ter) SNV
Germline		 Chr19:1399859 Likely pathogenic Cerebral creatine deficiency syndrome
Deficiency of guanidinoacetate methyltransferase		 Reviewed By Expert Panel
 rs_761115975

4 SubmittersRCV001053709RCV003159176
NM_000156.6(GAMT):c.328-2A>G SNV
Germline		 Chr19:1399589 Pathogenic Cerebral creatine deficiency syndrome
Deficiency of guanidinoacetate methyltransferase		 Reviewed By Expert Panel
 rs_2082621259

2 SubmittersRCV001059066RCV003482159
NM_000156.6(GAMT):c.182-2A>G SNV
Germline		 Chr19:1399940 Pathogenic/Likely pathogenic Cerebral creatine deficiency syndrome
Deficiency of guanidinoacetate methyltransferase		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2082624299

2 SubmittersRCV001055959RCV003467780
NM_000156.6(GAMT):c.328-1G>A SNV
Germline		 Chr19:1399588 Likely pathogenic Cerebral creatine deficiency syndrome
Deficiency of guanidinoacetate methyltransferase		 Reviewed By Expert Panel
 rs_756772965

5 SubmittersRCV001047942RCV001832448
NM_000156.6(GAMT):c.402C>G (p.Tyr134Ter) SNV
Germline		 Chr19:1399185 Pathogenic Cerebral creatine deficiency syndrome
Deficiency of guanidinoacetate methyltransferase		 Reviewed By Expert Panel
 rs_556829801

5 SubmittersRCV001218543RCV001780138
NM_000156.6(GAMT):c.392-2A>G SNV
Germline		 Chr19:1399197 Likely pathogenic Intellectual disability
Cerebral creatine deficiency syndrome
Deficiency of guanidinoacetate methyltransferase		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2082618808

3 SubmittersRCV001251993RCV001879840RCV002222687
NM_000156.6(GAMT):c.327+1G>T SNV
Germline		 Chr19:1399792 Likely pathogenic Cerebral creatine deficiency syndrome
Deficiency of guanidinoacetate methyltransferase		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2144638033

2 SubmittersRCV001377759RCV003469631
NM_000156.6(GAMT):c.289C>T (p.Gln97Ter) SNV
Germline		 Chr19:1399831 Pathogenic Cerebral creatine deficiency syndrome
Deficiency of guanidinoacetate methyltransferase		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1215576338

2 SubmittersRCV001389319RCV003469756
NM_000156.6(GAMT):c.59G>A (p.Trp20Ter) SNV
Germline		 Chr19:1401418 Pathogenic/Likely pathogenic Cerebral creatine deficiency syndrome
Deficiency of guanidinoacetate methyltransferase		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_80338734

3 SubmittersRCV001381037RCV003462972
NM_000156.6(GAMT):c.181G>A (p.Gly61Arg) SNV
Germline		 Chr19:1401296 Likely pathogenic Deficiency of guanidinoacetate methyltransferase
Cerebral creatine deficiency syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1300512258

2 SubmittersRCV001420145RCV003771338
NM_000156.6(GAMT):c.114C>T (p.Gly38=) SNV
Germline		 Chr19:1401363 Likely pathogenic Condition: not provided
Deficiency of guanidinoacetate methyltransferase		 Reviewed By Expert Panel
 rs_2082632873

2 SubmittersRCV001768570RCV004596481
NM_000156.6(GAMT):c.497T>C (p.Leu166Pro) SNV
Germline		 Chr19:1398989 Likely pathogenic Cerebral creatine deficiency syndrome
Deficiency of guanidinoacetate methyltransferase		 Reviewed By Expert Panel
 rs_1483148182

2 SubmittersRCV001761400RCV003298978
NM_000156.6(GAMT):c.476T>C (p.Leu159Pro) SNV
Germline		 Chr19:1399010 Likely pathogenic Condition: not provided
Deficiency of guanidinoacetate methyltransferase		 Reviewed By Expert Panel
 rs_2144636453

2 SubmittersRCV001816225RCV003159214
NM_000156.6(GAMT):c.432G>A (p.Trp144Ter) SNV
Germline		 Chr19:1399155 Pathogenic Cerebral creatine deficiency syndrome
Deficiency of guanidinoacetate methyltransferase		 Reviewed By Expert Panel
 rs_1600158570

2 SubmittersRCV001892971RCV004596490
NM_000156.6(GAMT):c.520T>C (p.Trp174Arg) SNV
Germline		 Chr19:1398966 Likely pathogenic Cerebral creatine deficiency syndrome
Deficiency of guanidinoacetate methyltransferase		 Reviewed By Expert Panel
 rs_891042971

2 SubmittersRCV001943659RCV003482165
NM_000156.6(GAMT):c.402C>A (p.Tyr134Ter) SNV
Germline		 Chr19:1399185 Pathogenic/Likely pathogenic Cerebral creatine deficiency syndrome
Deficiency of guanidinoacetate methyltransferase		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_556829801

2 SubmittersRCV001890336RCV003470992
NM_000156.6(GAMT):c.350G>A (p.Trp117Ter) SNV
Germline		 Chr19:1399565 Pathogenic/Likely pathogenic Cerebral creatine deficiency syndrome
Deficiency of guanidinoacetate methyltransferase		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2144637546

2 SubmittersRCV001963237RCV003464328
NM_000156.6(GAMT):c.152A>C (p.His51Pro) SNV
Germline		 Chr19:1401325 Likely pathogenic Cerebral creatine deficiency syndrome
Deficiency of guanidinoacetate methyltransferase		 Reviewed By Expert Panel

2 SubmittersRCV003050512RCV003334076
NM_000156.6(GAMT):c.134G>A (p.Trp45Ter) SNV
Germline		 Chr19:1401343 Pathogenic Cerebral creatine deficiency syndrome
Deficiency of guanidinoacetate methyltransferase
GAMT-related disorder		 Reviewed By Expert Panel

4 SubmittersRCV003112399RCV003459777RCV003919013
NM_000156.6(GAMT):c.48C>A (p.Cys16Ter) SNV
Germline		 Chr19:1401429 Pathogenic Condition: not provided
Deficiency of guanidinoacetate methyltransferase		 Reviewed By Expert Panel

2 SubmittersRCV003108276RCV003334081
NM_000156.6(GAMT):c.274A>G (p.Asn92Asp) SNV
Germline		 Chr19:1399846 Likely pathogenic Deficiency of guanidinoacetate methyltransferase Reviewed By Expert Panel

2 SubmittersRCV003159287
NM_000156.6(GAMT):c.160G>C (p.Ala54Pro) SNV
Germline		 Chr19:1401317 Likely pathogenic Deficiency of guanidinoacetate methyltransferase Reviewed By Expert Panel

1 SubmittersRCV003159288
NM_000156.6(GAMT):c.202G>T (p.Gly68Cys) SNV
Germline		 Chr19:1399918 Likely pathogenic Deficiency of guanidinoacetate methyltransferase Reviewed By Expert Panel

1 SubmittersRCV003159290
NM_000156.6(GAMT):c.220G>C (p.Ala74Pro) SNV
Germline		 Chr19:1399900 Likely pathogenic Deficiency of guanidinoacetate methyltransferase
Cerebral creatine deficiency syndrome		 Reviewed By Expert Panel

3 SubmittersRCV003159291RCV003586387
NM_000156.6(GAMT):c.391G>C (p.Gly131Arg) SNV
Germline		 Chr19:1399524 Likely pathogenic Deficiency of guanidinoacetate methyltransferase Reviewed By Expert Panel

1 SubmittersRCV003159292
NM_000156.6(GAMT):c.403G>T (p.Asp135Tyr) SNV
Germline		 Chr19:1399184 Likely pathogenic Deficiency of guanidinoacetate methyltransferase Reviewed By Expert Panel

2 SubmittersRCV003159293
NM_000156.6(GAMT):c.439C>T (p.His147Tyr) SNV
Germline		 Chr19:1399148 Likely pathogenic Deficiency of guanidinoacetate methyltransferase
GAMT-related disorder		 Reviewed By Expert Panel

3 SubmittersRCV003159294RCV003928960
NM_000156.6(GAMT):c.577C>T (p.Gln193Ter) SNV
Germline		 Chr19:1397493 Pathogenic Deficiency of guanidinoacetate methyltransferase Criteria Provided
Single Submitter

1 SubmittersRCV003230881
NM_000156.6(GAMT):c.564G>T (p.Met188Ile) SNV
Germline		 Chr19:1398922 Likely pathogenic Deficiency of guanidinoacetate methyltransferase Reviewed By Expert Panel

1 SubmittersRCV003307395
NM_000156.6(GAMT):c.590T>C (p.Leu197Pro) SNV
Germline		 Chr19:1397480 Likely pathogenic Deficiency of guanidinoacetate methyltransferase Reviewed By Expert Panel

2 SubmittersRCV003307397
NM_000156.6(GAMT):c.235C>T (p.Gln79Ter) SNV
Germline		 Chr19:1399885 Pathogenic Deficiency of guanidinoacetate methyltransferase Reviewed By Expert Panel

2 SubmittersRCV003461654
NM_000156.6(GAMT):c.411C>G (p.Tyr137Ter) SNV
Unknown		 Chr19:1399176 Likely pathogenic Deficiency of guanidinoacetate methyltransferase Criteria Provided
Single Submitter

1 SubmittersRCV003468251
NM_000156.6(GAMT):c.115A>G (p.Lys39Glu) SNV
Germline		 Chr19:1401362 Likely pathogenic Deficiency of guanidinoacetate methyltransferase Reviewed By Expert Panel

1 SubmittersRCV003482173
NM_000156.6(GAMT):c.233T>A (p.Val78Glu) SNV
Germline		 Chr19:1399887 Likely pathogenic Deficiency of guanidinoacetate methyltransferase
Cerebral creatine deficiency syndrome		 Reviewed By Expert Panel

2 SubmittersRCV003482174RCV003586428
NM_000156.6(GAMT):c.403G>C (p.Asp135His) SNV
Germline		 Chr19:1399184 Pathogenic Deficiency of guanidinoacetate methyltransferase Criteria Provided
Single Submitter

1 SubmittersRCV003988788