ClinVar (all) for Orgtrack (Select 509593) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3238734	NM_000531.6(OTC):c.116G>T (p.Gly39Val)	OTC (G39V)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GLikely pathogenic
Select item 3238733	NM_000019.4(ACAT1):c.1163G>C (p.Gly388Ala)	ACAT1 (G283A +3 more)	Single nucleotide variant (missense variant +1 more)	Deficiency of acetyl-CoA acetyltransferase	GLikely pathogenic