"3billion"[submitter] AND "CYP21A2"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1687149	NM_000500.9(CYP21A2):c.292+1G>A	CYP21A2, LOC106780800	Single nucleotide variant (splice donor variant +1 more)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GLikely pathogenic
Select item 12155	NM_000500.9(CYP21A2):c.293-13C>G	CYP21A2, LOC106780800	Single nucleotide variant (5 prime UTR variant +1 more)	Adrenal hyperplasia +5 more	GPathogenic/Likely pathogenic
Select item 1705450	NM_000500.9(CYP21A2):c.341C>T (p.Ser114Phe)	CYP21A2, LOC106780800 (S114F +1 more)	Single nucleotide variant (missense variant +1 more)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency +1 more	GLikely pathogenic
Select item 1687249	NM_000500.9(CYP21A2):c.433del (p.Gln145fs)	CYP21A2, LOC106780800 (Q10fs +2 more)	Deletion (frameshift variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GPathogenic
Select item 1705568	NM_000500.9(CYP21A2):c.503T>C (p.Leu168Pro)	CYP21A2, LOC106780800 (L138P +2 more)	Single nucleotide variant (missense variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GUncertain significance
Select item 12150	NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn)	CYP21A2, LOC106780800 (I173N +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1705550	NM_000500.9(CYP21A2):c.614G>A (p.Trp205Ter)	CYP21A2, LOC106780800 (W175* +2 more)	Single nucleotide variant (nonsense)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GLikely pathogenic
Select item 242761	NM_000500.9(CYP21A2):c.710T>A (p.Ile237Asn)	CYP21A2, LOC106780800 (I237N +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 12173	NM_000500.9(CYP21A2):c.713T>A (p.Val238Glu)	CYP21A2, LOC106780800 (V238E +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 242688	NM_000500.9(CYP21A2):c.719T>A (p.Met240Lys)	CYP21A2, LOC106780800 (M240K +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 800630	NM_000500.9(CYP21A2):c.738+75C>T	CYP21A2, LOC106780800	Single nucleotide variant (intron variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GUncertain significance
Select item 12151	NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu)	CYP21A2, LOC106780800 (V282L +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 65611	NM_000500.9(CYP21A2):c.923dup (p.Leu308fs)	CYP21A2, LOC106780800 (L173fs +2 more)	Duplication (frameshift variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency +1 more	GPathogenic
Select item 12169	NM_000500.7(CYP21A2):c.955C>T (p.Gln319Ter)	CYP21A2, LOC106780800 +1 more (Q319* +2 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 12152	NM_000500.9(CYP21A2):c.1069C>T (p.Arg357Trp)	CYP21A2, LOC106780800 +1 more (R357W +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 225335	NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr)	CYP21A2, LOC106780800 (A392T +2 more)	Single nucleotide variant (missense variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 12159	NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser)	CYP21A2, LOC106780800 (P454S +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 596309	NM_000500.9(CYP21A2):c.1447C>T (p.Pro483Ser)	LOC106780800, CYP21A2 (P483S +2 more)	Single nucleotide variant (missense variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency +1 more	GPathogenic
Select item 1264335	NM_000500.9(CYP21A2):c.1451G>C (p.Arg484Pro)	CYP21A2, LOC106780800 (R349P +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic