ClinVar for MedGen (Select 87459) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1806456	Single allele	MT-CYB, MT-ND4 +6 more	Deletion	Pearson syndrome	GPathogenic
Select item 638147	NC_012920.1(MT-TS2):m.8350_13450del	MT-ATP6, MT-ATP8 +11 more	Deletion	Pearson syndrome	GPathogenic
Select item 638146	NC_012920.1(MT-TS2):m.8480_13440del	MT-ATP6, MT-ATP8 +10 more	Deletion	Pearson syndrome	GPathogenic
Select item 523060	NM_000018.4(ACADVL):c.325G>A (p.Val109Met)	ACADVL (V109M +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency +1 more	GUncertain significance
Select item 495345	NM_000018.4(ACADVL):c.708_709del (p.Cys237fs)	ACADVL (C161fs +3 more)	Deletion (frameshift variant)	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 21025	NM_000018.4(ACADVL):c.848T>C (p.Val283Ala)	ACADVL (V283A +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic FDA Recognized database

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