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/Likely 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 HADHA-related disorder not specified Inborn genetic diseases Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency Mitochondrial trifunctional protein deficiency 1 Metabolic disease	Criteria Provided Multiple Submitters No Conflicts	CA119870	rs_137852769	29 SubmittersRCV000009267 RCV000009266 RCV000174836 RCV000185933 RCV000535911 RCV000778608 RCV001001910 RCV000624767 RCV005003469 RCV005621874