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
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 #
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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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
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