"PreventionGenetics, part of Exact Sciences"[submitter] AND "CYP21A2"[ - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3056153	NC_000006.12:g.32038227T>C	CYP21A2, LOC106780800 +1 more	Single nucleotide variant	CYP21A2-related disorder	GUncertain significance
Select item 2636024	NM_000500.7(CYP21A2):c.-102G>A	CYP21A2, LOC106780800 +1 more	Single nucleotide variant	CYP21A2-related disorder	GUncertain significance
Select item 3056666	NM_000500.7(CYP21A2):c.-81A>C	CYP21A2, LOC106780800 +1 more	Single nucleotide variant	CYP21A2-related disorder	GUncertain significance
Select item 2632027	NM_000500.7(CYP21A2):c.-73C>T	CYP21A2, LOC106780800 +1 more	Single nucleotide variant	CYP21A2-related disorder	GUncertain significance
Select item 256284	NM_000500.9(CYP21A2):c.-4C>T	CYP21A2, LOC106780800 +1 more	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GBenign
Select item 93160	NM_000500.9(CYP21A2):c.17TGC[4] (p.Leu10del)	CYP21A2, LOC106780800 +1 more (L10del)	Microsatellite (inframe_deletion +1 more)	not specified +1 more	GBenign
Select item 3029608	NM_000500.9(CYP21A2):c.77G>A (p.Arg26Gln)	CYP21A2, LOC106780800 (R26Q)	Single nucleotide variant (missense variant +1 more)	CYP21A2-related disorder	GUncertain significance
Select item 256286	NM_000500.9(CYP21A2):c.118C>T (p.Leu40=)	CYP21A2, LOC106780800	Single nucleotide variant (synonymous variant +1 more)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency +2 more	GBenign
Select item 256287	NM_000500.9(CYP21A2):c.138C>A (p.Pro46=)	CYP21A2, LOC106780800	Single nucleotide variant (synonymous variant +1 more)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency +1 more	GBenign
Select item 3032291	NM_000500.9(CYP21A2):c.233T>C (p.Ile78Thr)	CYP21A2, LOC106780800 (I78T)	Single nucleotide variant (missense variant +2 more)	CYP21A2-related disorder	GPathogenic
Select item 256289	NM_000500.9(CYP21A2):c.292+9C>T	CYP21A2, LOC106780800	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 196278	NM_000500.9(CYP21A2):c.293-13C>A	CYP21A2, LOC106780800	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +2 more	GBenign
Select item 35993	NM_000500.9(CYP21A2):c.293-7C>G	LOC106780800, CYP21A2	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital adrenal hyperplasia +1 more	GUncertain significance
Select item 256290	NM_000500.9(CYP21A2):c.293-4G>A	CYP21A2, LOC106780800	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GLikely benign
Select item 256291	NM_000500.9(CYP21A2):c.300G>A (p.Leu100=)	CYP21A2, LOC106780800	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
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 256293	NM_000500.9(CYP21A2):c.318G>C (p.Pro106=)	CYP21A2, LOC106780800	Single nucleotide variant (synonymous variant +1 more)	not specified	GBenign
Select item 256292	NM_000500.9(CYP21A2):c.318G>A (p.Pro106=)	CYP21A2, LOC106780800	Single nucleotide variant (synonymous variant +1 more)	not specified	GBenign/Likely benign
Select item 35994	NM_000500.9(CYP21A2):c.327C>G (p.Ser109=)	CYP21A2, LOC106780800	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 35995	NM_000500.9(CYP21A2):c.342C>T (p.Ser114=)	CYP21A2, LOC106780800	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2634176	NM_000500.9(CYP21A2):c.448C>A (p.Arg150Ser)	CYP21A2, LOC106780800 (R120S +2 more)	Single nucleotide variant (missense variant)	CYP21A2-related disorder	GUncertain significance
Select item 256294	NM_000500.9(CYP21A2):c.550-15C>A	CYP21A2, LOC106780800	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 256295	NM_000500.9(CYP21A2):c.550-8T>C	CYP21A2, LOC106780800	Single nucleotide variant (intron variant)	not specified	GBenign
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 256296	NM_000500.9(CYP21A2):c.652-4G>A	CYP21A2, LOC106780800	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 256297	NM_000500.9(CYP21A2):c.705T>C (p.Asp235=)	CYP21A2, LOC106780800	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 256298	NM_000500.9(CYP21A2):c.738+12A>G	CYP21A2, LOC106780800	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 256299	NM_000500.9(CYP21A2):c.738+13C>T	CYP21A2, LOC106780800	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 256300	NM_000500.9(CYP21A2):c.747C>G (p.Leu249=)	LOC106780800, CYP21A2	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 3050942	NM_000500.9(CYP21A2):c.749T>C (p.Val250Ala)	CYP21A2, LOC106780800 (V115A +2 more)	Single nucleotide variant (missense variant)	CYP21A2-related disorder	GUncertain significance
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 256301	NM_000500.9(CYP21A2):c.822T>C (p.Ser274=)	CYP21A2, LOC106780800	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 12151	NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu)	CYP21A2, LOC106780800 (V282L +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 800926	NM_000500.9(CYP21A2):c.850A>G (p.Met284Val)	CYP21A2, LOC106780800 (M254V +2 more)	Single nucleotide variant (missense variant)	CYP21A2-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 256302	NM_000500.9(CYP21A2):c.939+10G>A	CYP21A2, LOC106780800	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 256303	NM_000500.9(CYP21A2):c.939+11G>C	CYP21A2, LOC106780800	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 12169	NM_000500.7(CYP21A2):c.955C>T (p.Gln319Ter)	LOC106780800, CYP21A2 +1 more (Q319* +2 more)	Single nucleotide variant (nonsense)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency +3 more	GPathogenic
Select item 2636679	NM_000500.9(CYP21A2):c.1007C>T (p.Pro336Leu)	CYP21A2, LOC106780800 (P201L +2 more)	Single nucleotide variant (missense variant)	CYP21A2-related disorder	GUncertain significance
Select item 1422248	NM_000500.9(CYP21A2):c.1024C>T (p.Arg342Trp)	CYP21A2, LOC106780800 (R312W +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1675313	NM_000500.9(CYP21A2):c.1063C>T (p.Arg355Cys)	CYP21A2, LOC106780800 (R220C +2 more)	Single nucleotide variant (missense variant)	CYP21A2-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 12152	NM_000500.9(CYP21A2):c.1069C>T (p.Arg357Trp)	CYP21A2, LOC106780800 +1 more (R357W +2 more)	Single nucleotide variant (missense variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency +2 more	GPathogenic
Select item 256285	NM_000500.9(CYP21A2):c.1125C>T (p.Ser375=)	CYP21A2, LOC106780800 +1 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2635968	NM_000500.9(CYP21A2):c.1160C>T (p.Pro387Leu)	CYP21A2, LOC106780800 (P252L +2 more)	Single nucleotide variant (missense variant)	CYP21A2-related disorder	GLikely pathogenic
Select item 3056254	NM_000500.9(CYP21A2):c.1192G>A (p.Val398Ile)	CYP21A2, LOC106780800 (V263I +2 more)	Single nucleotide variant (missense variant)	CYP21A2-related disorder	GUncertain significance
Select item 3030523	NM_000500.9(CYP21A2):c.1226G>T (p.Arg409Leu)	CYP21A2, LOC106780800 (R274L +2 more)	Single nucleotide variant (missense variant)	CYP21A2-related disorder	GPathogenic
Select item 995351	NM_000500.9(CYP21A2):c.1226G>A (p.Arg409His)	CYP21A2, LOC106780800 (R274H +2 more)	Single nucleotide variant (missense variant)	CYP21A2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 12175	NM_000500.9(CYP21A2):c.1280G>A (p.Arg427His)	CYP21A2, LOC106780800 (R292H +2 more)	Single nucleotide variant (missense variant)	CYP21A2-related disorder +1 more	GPathogenic
Select item 12159	NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser)	CYP21A2, LOC106780800 (P454S +2 more)	Single nucleotide variant (missense variant)	CYP21A2-related disorder +4 more	GPathogenic/Likely pathogenic
Select item 3046177	NM_000500.9(CYP21A2):c.1430T>C (p.Phe477Ser)	CYP21A2, LOC106780800 (F342S +2 more)	Single nucleotide variant (missense variant)	CYP21A2-related disorder	GUncertain significance
Select item 596309	NM_000500.9(CYP21A2):c.1447C>T (p.Pro483Ser)	LOC106780800, CYP21A2 (P483S +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 12157	NM_000500.9(CYP21A2):c.1451_1452delinsC (p.Arg484fs)	CYP21A2, LOC106780800 (R349fs +2 more)	Indel (frameshift variant)	CYP21A2-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 256288	NM_000500.9(CYP21A2):c.1473G>A (p.Pro491=)	CYP21A2, LOC106780800	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 193596	NM_000500.9(CYP21A2):c.1481G>A (p.Ser494Asn)	CYP21A2, LOC106780800 (S494N +2 more)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 261093	NM_001365276.2(TNXB):c.*39G>A	CYP21A2, TNXB	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GLikely benign

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Items: 54