"Department of Pediatric Endocrinology and Inherited Metabolic Disease - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1119979	NM_000500.9(CYP21A2):c.651+2T>G	LOC106780800, CYP21A2	Single nucleotide variant (splice donor variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GPathogenic
Select item 1119995	NM_000500.9(CYP21A2):c.833dup (p.Glu279fs)	CYP21A2, LOC106780800 (E144fs +2 more)	Duplication (frameshift variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GPathogenic