Total 1 pathogenic variants reported for Acute fatty liver of pregnancy 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln) SNV
Germline
Chr2:26195184 Pathogenic LCHAD deficiency with maternal acute fatty liver of pregnancy
Mitochondrial trifunctional protein deficiency
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Condition: not provided
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Mitochondrial trifunctional protein deficiency
Inborn genetic diseases
HADHA-related disorder
not specified
Criteria Provided
Multiple Submitters
No Conflicts
CA119870 rs_137852769

26 SubmittersRCV000009267RCV000009266RCV000174836RCV000185933RCV000535911RCV000624767RCV000778608RCV001001910