ClinVar Miner

Variants from GenomeConnect-Association for Creatine Deficiencies, Association for Creatine Deficiencies

Location: United States  Primary collection method: phenotyping only
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
0 0 0 0 0 39 39

Gene and significance breakdown #

Total genes and gene combinations: 19
Download table as spreadsheet
Gene or gene combination not provided total
SLC6A8 10 10
GAMT 5 5
​intergenic 4 4
C3orf20 2 2
GAMT, LOC130062945 2 2
KRBA1 2 2
ZNF746 2 2
ARX, LOC109610631 1 1
CBS 1 1
CCDC88A 1 1
DKC1, LOC130068886 1 1
FANCI, POLG, POLGARF 1 1
GNL2 1 1
GNL2, LOC126805705 1 1
KAT6A 1 1
MT-TI 1 1
NRXN1 1 1
PEX7 1 1
TAF5 1 1

Condition and significance breakdown #

Total conditions: 12
Download table as spreadsheet
Condition not provided total
not provided 15 15
Creatine transporter deficiency 9 9
Deficiency of guanidinoacetate methyltransferase 6 6
Association with valproate-induced liver toxicity 1 1
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 1 1
Classic homocystinuria 1 1
Developmental and epileptic encephalopathy, 1; Intellectual disability, X-linked, with or without seizures, arx-related; Corpus callosum agenesis-abnormal genitalia syndrome; Partington syndrome 1 1
Dyskeratosis congenita, X-linked 1 1
Guanidinoacetate methyltransferase (GAMT) deficiency 1 1
PEHO syndrome 1 1
Pitt-Hopkins-like syndrome 2; Chromosome 2p16.3 deletion syndrome 1 1
Rhizomelic chondrodysplasia punctata type 1 1 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.