Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_000182.4(HADHA):c.2146+1G>A | -1 | - | Pathogenic | 794727219 | RCV000175393; RCV000175394; | N | MedGen:C0342786,OMIM:609015,SNOMED CT:237999008; MedGen:CN074230,OMIM:609016 | 2 | 26414351 | 26414351 | NM_000182.4:c.2146+1G>A | | NC_000002.11:g.26414351C>T | - | CN074230 609016 Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency; C0342786 609015 Mitochondrial trifunctional protein deficiency | | |
NM_000182.4(HADHA):c.1981_1999del19 (p.Leu661Serfs) | -1 | - | Likely pathogenic | 749848370 | RCV000169495; | N | MedGen:CN074230,OMIM:609016 | 2 | 26415180 | 26415198 | NM_000182.4:c.1981_1999del19 | NP_000173.2:p.Leu661Serfs | NC_000002.11:g.26415180_26415198del19 | - | CN074230 609016 Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency | | |
NM_000182.4(HADHA):c.1967delT (p.Leu656Terfs) | -1 | - | Likely pathogenic | 779113356 | RCV000169001; | N | MedGen:CN074230,OMIM:609016 | 2 | 26415212 | 26415212 | NM_000182.4:c.1967delT | NP_000173.2:p.Leu656Terfs | NC_000002.11:g.26415212delA | - | CN074230 609016 Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency | | |
NM_000182.4(HADHA):c.1918C>T (p.Gln640Ter) | -1 | - | Pathogenic | 794727198 | RCV000175265; RCV000175266; | N | MedGen:C0342786,OMIM:609015,SNOMED CT:237999008; MedGen:CN074230,OMIM:609016 | 2 | 26415261 | 26415261 | NM_000182.4:c.1918C>T | NP_000173.2:p.Gln640Ter | NC_000002.11:g.26415261G>A | - | CN074230 609016 Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency; C0342786 609015 Mitochondrial trifunctional protein deficiency | | |
NM_000182.4(HADHA):c.1793_1794delAT (p.His598Argfs) | -1 | - | Likely pathogenic | 769580842 | RCV000169337; | N | MedGen:CN074230,OMIM:609016 | 2 | 26416537 | 26416538 | NM_000182.4:c.1793_1794delAT | NP_000173.2:p.His598Argfs | NC_000002.11:g.26416537_26416538delAT | - | CN074230 609016 Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency | | |
NM_000182.4(HADHA):c.1528G>C (p.Glu510Gln) | -1 | - | Pathogenic | 137852769 | RCV000009266; RCV000009267; RCV000174836; RCV000185933; | Y | MedGen:C0342786,OMIM:609015,SNOMED CT:237999008; MedGen:C1833202; MedGen:CN074230,OMIM:609016; MedGen:CN221809 | 2 | 26418053 | 26418053 | NM_000182.4:c.1528G>C | NP_000173.2:p.Glu510Gln | NC_000002.11:g.26418053C>G | OMIM Allelic Variant:600890.0001 | C1833202 Lchad deficiency with maternal acute fatty liver of pregnancy; CN074230 609016 Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency; C0342786 609015 Mitochondrial trifunctional protein deficiency; CN221809 not provided | | |
NM_000182.4(HADHA):c.919-2A>G | 3030 | HADHA | Pathogenic | 200017313 | RCV000173655; RCV000173656; RCV000185930; | N | MedGen:C0342786,OMIM:609015,SNOMED CT:237999008; MedGen:CN074230,OMIM:609016; MedGen:CN221809 | 2 | 26435497 | 26435497 | NM_000182.4:c.919-2A>G | | NC_000002.11:g.26435497T>C | - | CN074230 609016 Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency; C0342786 609015 Mitochondrial trifunctional protein deficiency; CN221809 not provided | | |
NM_000182.4(HADHA):c.703C>T (p.Arg235Trp) | 3030 | HADHA | Likely pathogenic | 786204607 | RCV000169366; | N | MedGen:CN074230,OMIM:609016 | 2 | 26438018 | 26438018 | NM_000182.4:c.703C>T | NP_000173.2:p.Arg235Trp | NC_000002.11:g.26438018G>A | - | CN074230 609016 Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency | | |
NM_000182.4(HADHA):c.403A>G (p.Lys135Glu) | 3030 | HADHA | Likely pathogenic | 794727700 | RCV000178729; | N | MedGen:CN074230,OMIM:609016 | 2 | 26457135 | 26457135 | NM_000182.4:c.403A>G | NP_000173.2:p.Lys135Glu | NC_000002.11:g.26457135T>C | - | CN074230 609016 Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency | | |
NM_000182.4(HADHA):c.274_278delTCATC (p.Ser92Lysfs) | 3030 | HADHA | Likely pathogenic;Pathogenic | 781205883 | RCV000178060; RCV000169517; RCV000185936; | N | MedGen:C0342786,OMIM:609015,SNOMED CT:237999008; MedGen:CN074230,OMIM:609016; MedGen:CN221809 | 2 | 26459759 | 26459763 | NM_000182.4:c.274_278delTCATC | NP_000173.2:p.Ser92Lysfs | NC_000002.11:g.26459759_26459763delGATGA | - | CN074230 609016 Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency; C0342786 609015 Mitochondrial trifunctional protein deficiency; CN221809 not provided | | |
NM_000182.4(HADHA):c.180+3A>G | 3030 | HADHA | Pathogenic | 781222705 | RCV000009270; RCV000177004; RCV000185934; | N | MedGen:C0342786,OMIM:609015,SNOMED CT:237999008; MedGen:CN074230,OMIM:609016; MedGen:CN221809 | 2 | 26461799 | 26461799 | NM_000182.4:c.180+3A>G | | NC_000002.11:g.26461799T>C | OMIM Allelic Variant:600890.0004 | CN074230 609016 Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency; C0342786 609015 Mitochondrial trifunctional protein deficiency; CN221809 not provided | | |
NM_000182.4(HADHA):c.157C>T (p.Arg53Ter) | 3030 | HADHA | Pathogenic | 147103714 | RCV000177002; RCV000177003; RCV000078334; | N | MedGen:C0342786,OMIM:609015,SNOMED CT:237999008; MedGen:CN074230,OMIM:609016; MedGen:CN221809 | 2 | 26461825 | 26461825 | NM_000182.4:c.157C>T | NP_000173.2:p.Arg53Ter | NC_000002.11:g.26461825G>A | HGMD:CM107604 | CN074230 609016 Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency; C0342786 609015 Mitochondrial trifunctional protein deficiency; CN221809 not provided | | |