ClinVar Miner

Variants from Elsea Laboratory, Baylor College of Medicine

Location: United States  Primary collection method: clinical testing
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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 total
99 62 68 9 0 238

Gene and significance breakdown #

Total genes and gene combinations: 84
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
ALDH5A1 44 43 0 0 87
ALDH5A1, GPLD1, LOC129995978 10 2 0 0 12
ABAT 6 0 0 0 6
HIBCH 1 0 3 2 6
MMUT 2 0 3 0 5
GLDC 0 0 4 0 4
MMACHC 2 0 2 0 4
UPB1 2 0 2 0 4
ABHD14A-ACY1, ACY1 1 0 2 0 3
BTD 1 0 2 0 3
DDC 1 2 0 0 3
DHTKD1 0 1 1 1 3
MTR 2 0 1 0 3
PEX1 2 0 1 0 3
PEX5 0 0 3 0 3
UROC1 2 0 0 1 3
AASS 0 0 2 0 2
ACADL 0 0 2 0 2
ALDH7A1 2 0 0 0 2
ALDOB 1 0 1 0 2
ARG1, MED23 0 0 2 0 2
AUH 0 0 2 0 2
ECHS1 1 0 1 0 2
FAR1 0 0 2 0 2
GLYCTK 0 0 2 0 2
HDAC4 2 0 0 0 2
HSD17B4 1 1 0 0 2
LIPT1, MITD1 0 1 1 0 2
MBD5 0 2 0 0 2
NAGS 0 0 1 1 2
PAH 1 1 0 0 2
PDHA1 2 0 0 0 2
PEX16 0 0 2 0 2
PEX26 0 0 2 0 2
SLC6A19 0 0 2 0 2
SUCLG1 0 0 0 2 2
TJP2 0 2 0 0 2
TRMU 1 1 0 0 2
ABCC8 1 0 0 0 1
ABCD4 0 0 1 0 1
ABHD5 1 0 0 0 1
ACADM 1 0 0 0 1
ACADS 0 1 0 0 1
ACADSB 0 0 1 0 1
ACVR2A, ARHGAP15, EPC2, GTDC1, KYNU, LRP1B, MBD5, ORC4, ZEB2 1 0 0 0 1
ACVR2A, EPC2, KIF5C, MBD5, ORC4 1 0 0 0 1
ACVR2A, EPC2, MBD5, ORC4 1 0 0 0 1
ACVR2A, MBD5, ORC4 1 0 0 0 1
ACVR2A, ORC4 1 0 0 0 1
ALDH4A1 0 0 1 0 1
ALDH5A1, LOC129995978 0 1 0 0 1
ALDH5A1, LOC129995983 0 1 0 0 1
ASS1 1 0 0 0 1
BCKDHA 0 0 1 0 1
BCKDHB 0 0 1 0 1
CPS1 0 0 1 0 1
D2HGDH 0 0 1 0 1
DGAT1 1 0 0 0 1
DGAT1, LOC130001383 0 0 1 0 1
DMGDH 1 0 0 0 1
DPYD 0 0 1 0 1
GALT 0 0 1 0 1
GAMT, LOC130062945 0 1 0 0 1
GCH1 0 0 1 0 1
GCH1, LOC130055692 0 0 1 0 1
HPRT1 0 1 0 0 1
HSD17B10 0 1 0 0 1
HTRA2, LOC129934143 0 0 1 0 1
LIPA 0 0 0 1 1
MCCC1 0 0 1 0 1
MCCC2 1 0 0 0 1
MOCS1 0 0 1 0 1
MTHFR 0 0 1 0 1
OXCT1 0 0 1 0 1
PCCB 0 0 1 0 1
PEX13 0 0 1 0 1
PEX2 0 0 1 0 1
PEX3 1 0 0 0 1
PEX6 1 0 0 0 1
PGK1 0 0 0 1 1
SERAC1 1 0 0 0 1
SLC22A5 0 0 1 0 1
SLC52A2 1 0 0 0 1
TALDO1 0 0 1 0 1

Condition and significance breakdown #

Total conditions: 76
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Condition pathogenic likely pathogenic uncertain significance likely benign total
Succinate-semialdehyde dehydrogenase deficiency 54 47 0 0 101
Beta-hydroxyisobutyryl-CoA deacylase deficiency 1 0 3 2 6
Gamma-aminobutyric acid transaminase deficiency 6 0 0 0 6
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2 0 3 0 5
Cobalamin C disease 2 0 2 0 4
Deficiency of beta-ureidopropionase 2 0 2 0 4
Non-ketotic hyperglycinemia 0 0 4 0 4
2-aminoadipic 2-oxoadipic aciduria 0 1 1 1 3
Aminoacylase 1 deficiency 1 0 2 0 3
Biotinidase deficiency 1 0 2 0 3
Deficiency of aromatic-L-amino-acid decarboxylase 1 2 0 0 3
MBD5 associated neurodevelopmental disorder 1 2 0 0 3
Methylcobalamin deficiency type cblG 2 0 1 0 3
Urocanate hydratase deficiency 2 0 0 1 3
3-methylglutaconic aciduria type 1 0 0 2 0 2
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins 1 1 0 0 2
Arginase deficiency 0 0 2 0 2
Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 1 1 1 0 0 2
Congenital diarrhea 7 with exudative enteropathy 1 0 1 0 2
D-Glyceric aciduria 0 0 2 0 2
Dystonia 5; GTP cyclohydrolase I deficiency 0 0 2 0 2
Fatty acyl-CoA reductase 1 deficiency 0 0 2 0 2
Hereditary fructosuria 1 0 1 0 2
Hyperammonemia, type III 0 0 1 1 2
Hypercholanemia, familial 1; Cholestasis, progressive familial intrahepatic, 4 0 2 0 0 2
Hyperglycinuria; Neutral 1 amino acid transport defect; Iminoglycinuria 0 0 2 0 2
Lipoyl transferase 1 deficiency 0 1 1 0 2
Long chain acyl-CoA dehydrogenase deficiency 0 0 2 0 2
Maple syrup urine disease 0 0 2 0 2
Mitochondrial DNA depletion syndrome 9 0 0 0 2 2
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency 1 0 1 0 2
Peroxisome biogenesis disorder 1A (Zellweger); Heimler syndrome 1; Peroxisome biogenesis disorder 1B 1 0 1 0 2
Peroxisome biogenesis disorder 2B; Peroxisome biogenesis disorder 2A (Zellweger); Rhizomelic chondrodysplasia punctata type 5 0 0 2 0 2
Peroxisome biogenesis disorder 7A (Zellweger); Peroxisome biogenesis disorder 7B 0 0 2 0 2
Peroxisome biogenesis disorder 8A (Zellweger); Peroxisome biogenesis disorder 8B 0 0 2 0 2
Phenylketonuria 1 1 0 0 2
Pyridoxine-dependent epilepsy 2 0 0 0 2
Pyruvate dehydrogenase E1-alpha deficiency 2 0 0 0 2
Saccharopinuria; Hyperlysinemia 0 0 2 0 2
3-methylcrotonyl-CoA carboxylase 1 deficiency 0 0 1 0 1
3-methylcrotonyl-CoA carboxylase 2 deficiency 1 0 0 0 1
3-methylglutaconic aciduria type 8 0 0 1 0 1
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 1 0 0 0 1
Brown-Vialetto-van Laere syndrome 2 1 0 0 0 1
Citrullinemia type I 1 0 0 0 1
Congenital hyperammonemia, type I 0 0 1 0 1
D-2-hydroxyglutaric aciduria 1 0 0 1 0 1
Deficiency of 2-methylbutyryl-CoA dehydrogenase 0 0 1 0 1
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 0 0 1 0 1
Deficiency of butyryl-CoA dehydrogenase 0 1 0 0 1
Deficiency of guanidinoacetate methyltransferase 0 1 0 0 1
Deficiency of transaldolase 0 0 1 0 1
Dihydropyrimidine dehydrogenase deficiency 0 0 1 0 1
Dimethylglycine dehydrogenase deficiency 1 0 0 0 1
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency 0 0 0 1 1
HSD10 mitochondrial disease 0 1 0 0 1
Homocystinuria due to methylene tetrahydrofolate reductase deficiency 0 0 1 0 1
Hyperprolinemia type 2 0 0 1 0 1
Intellectual disability, profound 1 0 0 0 1
Intellectual disability, severe 1 0 0 0 1
Lysosomal acid lipase deficiency 0 0 0 1 1
Medium-chain acyl-coenzyme A dehydrogenase deficiency 1 0 0 0 1
Methylmalonic acidemia with homocystinuria, type cblJ 0 0 1 0 1
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency; Lesch-Nyhan syndrome 0 1 0 0 1
Permanent neonatal diabetes mellitus; Diabetes mellitus, transient neonatal, 2; Hyperinsulinemic hypoglycemia, familial, 1; Leucine-induced hypoglycemia; Type 2 diabetes mellitus 1 0 0 0 1
Peroxisome biogenesis disorder 10A (Zellweger) 1 0 0 0 1
Peroxisome biogenesis disorder 11A (Zellweger); Peroxisome biogenesis disorder 11B 0 0 1 0 1
Peroxisome biogenesis disorder 1A (Zellweger); Peroxisome biogenesis disorder 1B 1 0 0 0 1
Peroxisome biogenesis disorder 2B; Peroxisome biogenesis disorder 2A (Zellweger) 0 0 1 0 1
Peroxisome biogenesis disorder 4A (Zellweger); Peroxisome biogenesis disorder 4B 1 0 0 0 1
Peroxisome biogenesis disorder 5A (Zellweger); Peroxisome biogenesis disorder 5B 0 0 1 0 1
Propionic acidemia 0 0 1 0 1
Renal carnitine transport defect 0 0 1 0 1
Succinyl-CoA acetoacetate transferase deficiency 0 0 1 0 1
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 0 0 1 0 1
Triglyceride storage disease with ichthyosis 1 0 0 0 1

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