C2936858[trait identifier] AND "GeneReviews"[submitter] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 12162	NM_000500.9(CYP21A2):c.17TGC[6] (p.Leu10dup)	CYP21A2, LOC106780800 +1 more	Microsatellite (inframe_insertion +1 more)	21-HYDROXYLASE POLYMORPHISM	GBenign
Select item 12153	NM_000500.9(CYP21A2):c.92C>T (p.Pro31Leu)	CYP21A2, LOC106780800 (P31L)	Single nucleotide variant (missense variant +1 more)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency +1 more	GPathogenic
Select item 12155	NM_000500.9(CYP21A2):c.293-13C>G	CYP21A2, LOC106780800	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +4 more	GPathogenic/Likely pathogenic
Select item 65608	NM_000500.9(CYP21A2):c.308G>A (p.Arg103Lys)	CYP21A2, LOC106780800 (R103K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 12164	NM_000500.9(CYP21A2):c.332_339del (p.Gly111fs)	CYP21A2, LOC106780800 (G81fs +1 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 12150	NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn)	CYP21A2, LOC106780800 (I173N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 65609	NM_000500.9(CYP21A2):c.552C>G (p.Asp184Glu)	CYP21A2, LOC106780800 (D184E +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 65613	NM_000500.5(CYP21A2):c.[701T>A;713T>A;719T>A]	CYP21A2, LOC106780800 (V238E +5 more)	Single nucleotide variant (missense variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GPathogenic
Select item 12154	NM_000500.9(CYP21A2):c.806G>C (p.Ser269Thr)	CYP21A2, LOC106780800 +1 more (S269T +2 more)	Single nucleotide variant (missense variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency +1 more	GBenign
Select item 65610	NM_000500.9(CYP21A2):c.844G>C (p.Val282Leu)	CYP21A2, LOC106780800 (V282L +2 more)	Single nucleotide variant (missense variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Gnot provided
Select item 12151	NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu)	CYP21A2, LOC106780800 (V282L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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)	CYP21A2-related disorder +2 more	GPathogenic
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 65604	NM_000500.9(CYP21A2):c.1482C>T (p.Ser494=)	CYP21A2, LOC106780800	Single nucleotide variant (synonymous variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Gnot provided