HMGCL Chromosome 1
3-hydroxy-3-methylglutaryl-CoA lyase
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What This Gene Does
The protein encoded by this gene belongs to the HMG-CoA lyase family. It is a mitochondrial enzyme that catalyzes the final step of leucine degradation and plays a key role in ketone body formation. Mutations in this gene are associated with HMG-CoA lyase deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
Associated Conditions (5)
Inborn genetic diseases
Deficiency of hydroxymethylglutaryl-CoA lyase
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HMGCL-related disorder
Ovarian serous cystadenocarcinoma
Key Variants
RS1185120937
Conflicting classifications of pathogenicity
Inborn genetic diseases, Deficiency of hydroxymethylglutaryl-CoA lyase, Inborn genetic diseases
Health Risk
RS1287973337
Conflicting classifications of pathogenicity
Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
Health Risk
RS146306707
Conflicting classifications of pathogenicity
Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
Health Risk
RS1488079271
Conflicting classifications of pathogenicity
Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
Health Risk
RS199587895
Conflicting classifications of pathogenicity
Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
Health Risk
RS764039230
Conflicting classifications of pathogenicity
Deficiency of hydroxymethylglutaryl-CoA lyase, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Deficiency of hydroxymethylglutaryl-CoA lyase
Health Risk
RS771024022
Conflicting classifications of pathogenicity
Deficiency of hydroxymethylglutaryl-CoA lyase, HMGCL-related disorder, Deficiency of hydroxymethylglutaryl-CoA lyase
Health Risk
RS778868742
Conflicting classifications of pathogenicity
Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
Health Risk
RS886046312
Conflicting classifications of pathogenicity
Deficiency of hydroxymethylglutaryl-CoA lyase, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Deficiency of hydroxymethylglutaryl-CoA lyase
Health Risk
RS886046313
Conflicting classifications of pathogenicity
Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
Health Risk
RS911190800
Conflicting classifications of pathogenicity
Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
Health Risk
RS1001955490
Likely pathogenic
Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
Health Risk
All Variants (89)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1185120937 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Deficiency of hydroxymethylglutaryl-CoA lyase, Inborn genetic diseases |
| RS1287973337 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase |
| RS146306707 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase |
| RS1488079271 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase |
| RS199587895 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase |
| RS764039230 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of hydroxymethylglutaryl-CoA lyase, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Deficiency of hydroxymethylglutaryl-CoA lyase |
| RS771024022 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of hydroxymethylglutaryl-CoA lyase, HMGCL-related disorder, Deficiency of hydroxymethylglutaryl-CoA lyase |
| RS778868742 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase |
| RS886046312 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of hydroxymethylglutaryl-CoA lyase, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Deficiency of hydroxymethylglutaryl-CoA lyase |
| RS886046313 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase |
| RS911190800 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase |
| RS1001955490 | Health Risk | Likely pathogenic | Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase |
| RS112508527 | Health Risk | Likely pathogenic | Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase |
| RS1299646067 | Health Risk | Likely pathogenic | Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase |
| RS1302190999 | Health Risk | Likely pathogenic | Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase |
| RS1322650779 | Health Risk | Likely pathogenic | Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase |
| RS1324641233 | Health Risk | Likely pathogenic | Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase |
| RS1357942068 | Health Risk | Likely pathogenic | Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase |
| RS139799938 | Health Risk | Likely pathogenic | Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase |
| RS1467902610 | Health Risk | Likely pathogenic | Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase |
| RS1553131955 | Health Risk | Likely pathogenic | Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase |
| RS1553132520 | Health Risk | Likely pathogenic | Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase |
| RS1553133042 | Health Risk | Likely pathogenic | Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase |
| RS1638446514 | Health Risk | Likely pathogenic | Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase |
| RS1638446662 | Health Risk | Likely pathogenic | Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase |
| RS1638619737 | Health Risk | Likely pathogenic | Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase |
| RS1638620864 | Health Risk | Likely pathogenic | Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase |
| RS1638698732 | Health Risk | Likely pathogenic | Deficiency of hydroxymethylglutaryl-CoA lyase, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Deficiency of hydroxymethylglutaryl-CoA lyase |
| RS1638699083 | Health Risk | Likely pathogenic | Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase |
| RS1638701269 | Health Risk | Likely pathogenic | Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase |
| RS2521404010 | Health Risk | Likely pathogenic | Deficiency of hydroxymethylglutaryl-CoA lyase, Ovarian serous cystadenocarcinoma, Deficiency of hydroxymethylglutaryl-CoA lyase |
| RS2521419194 | Health Risk | Likely pathogenic | Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase |
| RS2521455405 | Health Risk | Likely pathogenic | Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase |
| RS2521455525 | Health Risk | Likely pathogenic | Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase |
| RS2521505359 | Health Risk | Likely pathogenic | Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase |
| RS568718845 | Health Risk | Likely pathogenic | Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase |
| RS757884073 | Health Risk | Likely pathogenic | Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase |
| RS765198174 | Health Risk | Likely pathogenic | Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase |
| RS766648383 | Health Risk | Likely pathogenic | Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase |
| RS775218067 | Health Risk | Likely pathogenic | Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase |
| RS778751712 | Health Risk | Likely pathogenic | Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase |
| RS1212444447 | Health Risk | Pathogenic | Inborn genetic diseases, Deficiency of hydroxymethylglutaryl-CoA lyase, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
| RS121964997 | Health Risk | Pathogenic | Deficiency of hydroxymethylglutaryl-CoA lyase, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Deficiency of hydroxymethylglutaryl-CoA lyase |
| RS121964998 | Health Risk | Pathogenic | Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase |
| RS1259779697 | Health Risk | Pathogenic | Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase |
| RS1274176298 | Health Risk | Pathogenic | Deficiency of hydroxymethylglutaryl-CoA lyase, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Deficiency of hydroxymethylglutaryl-CoA lyase |
| RS1409716731 | Health Risk | Pathogenic | Deficiency of hydroxymethylglutaryl-CoA lyase, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Deficiency of hydroxymethylglutaryl-CoA lyase |
| RS1425615804 | Health Risk | Pathogenic | Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase |
| RS1553132209 | Health Risk | Pathogenic | Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase |
| RS1638447240 | Health Risk | Pathogenic | Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase |