C2936858[trait identifier] AND "Counsyl"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 189142	NM_000500.7:c.28698024_28698031del8	CYP21A2	Deletion	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GPathogenic
Select item 189137	NM_000500.7:c.*28699080dupT	CYP21A2	Duplication	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GLikely pathogenic
Select item 189136	NM_000500.7:c.*28699426C>T	CYP21A2	Single nucleotide variant	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GPathogenic
Select item 189135	NM_000500.7:c.*28699312C>T	CYP21A2	Single nucleotide variant	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GPathogenic
Select item 189134	NM_000500.7:c.*28697405C>T	CYP21A2	Single nucleotide variant	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GPathogenic
Select item 189133	NM_000500.7:c.*28699001G>T	CYP21A2	Single nucleotide variant	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GPathogenic
Select item 189132	NM_000500.7:c.*28698317T>A	CYP21A2	Single nucleotide variant	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GPathogenic
Select item 189131	NM_000500.7:c.*28697972C>G	CYP21A2	Single nucleotide variant	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GPathogenic

ClinVar