CYP21A2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 150716	GRCh38/hg38 6p21.33(chr6:31980353-32041234)x3	C4A, C4B +7 more	Copy number gain	See cases	GLikely benign
Select item 152997	GRCh38/hg38 6p21.33(chr6:31980422-32041505)x1	C4A, C4B +7 more	Copy number loss	See cases	GBenign
Select item 154968	GRCh38/hg38 6p21.33(chr6:31996044-32041234)x3	LOC108004539, LOC110631417 +6 more	Copy number gain	See cases	GLikely benign
Select item 154793	GRCh38/hg38 6p21.33(chr6:31996044-32040430)x1	C4A, C4B +5 more	Copy number loss	See cases	GLikely benign
Select item 154792	GRCh38/hg38 6p21.33(chr6:31996044-32040430)x3	C4A, C4B +5 more	Copy number gain	See cases	GLikely benign
Select item 149713	GRCh38/hg38 6p21.33(chr6:31996044-32040241)x3	C4A, C4B +5 more	Copy number gain	See cases	GLikely benign
Select item 147011	GRCh38/hg38 6p21.33(chr6:31996089-32041483)x1	C4A, C4B +6 more	Copy number loss	See cases	GBenign
Select item 2656438	NC_000006.12:g.32038115G>T	CYP21A2, LOC106780800 +1 more	Single nucleotide variant	not provided	GLikely benign
Select item 2656437	NC_000006.12:g.32038115G>C	CYP21A2, LOC106780800 +1 more	Single nucleotide variant	not provided	GUncertain significance
Select item 3341579	NC_000006.12:g.32038141T>G	CYP21A2, LOC106780800 +1 more	Single nucleotide variant	not provided	GBenign
Select item 3251595	NM_000500.9(CYP21A2):c.-210T>C	CYP21A2, LOC106780800 +1 more	Single nucleotide variant	not specified	GUncertain significance
Select item 3251606	NM_000500.9(CYP21A2):c.-199C>T	CYP21A2, LOC106780800 +1 more	Single nucleotide variant	not specified	GBenign
Select item 3056153	NC_000006.12:g.32038227T>C	CYP21A2, LOC106780800 +1 more	Single nucleotide variant	CYP21A2-related disorder	GUncertain significance
Select item 987867	NM_000500.9(CYP21A2):c.-113G>A	CYP21A2, LOC106780800 +1 more	Single nucleotide variant	Congenital adrenal hyperplasia	GLikely pathogenic
Select item 3352806	NM_000500.7(CYP21A2):c.-103A>G	CYP21A2, LOC106780800 +1 more	Single nucleotide variant	CYP21A2-related disorder	GPathogenic
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 1809515	NM_000500.9(CYP21A2):c.-8G>A	CYP21A2, LOC106780800 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
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 1451630	NM_000500.9(CYP21A2):c.1A>G (p.Met1Val)	CYP21A2, LOC106780800 +1 more (M1V)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic
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 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 623473	NM_000500.9(CYP21A2):c.20dup (p.Leu8fs)	CYP21A2, LOC106780800 (L8fs)	Duplication (frameshift variant +1 more)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GLikely pathogenic
Select item 2445834	NM_000500.9(CYP21A2):c.22C>A (p.Leu8Met)	CYP21A2, LOC106780800 (L8M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2431669	NM_000500.9(CYP21A2):c.37C>A (p.Leu13Met)	CYP21A2, LOC106780800 (L13M)	Single nucleotide variant (missense variant +1 more)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GUncertain significance
Select item 998097	NM_000500.9(CYP21A2):c.40G>T (p.Ala14Ser)	CYP21A2, LOC106780800 (A14S)	Single nucleotide variant (missense variant +1 more)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GUncertain significance
Select item 286900	NM_000500.9(CYP21A2):c.45C>T (p.Gly15=)	CYP21A2, LOC106780800	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 585755	NM_000500.9(CYP21A2):c.49C>T (p.Arg17Cys)	CYP21A2, LOC106780800 (R17C)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 800572	NM_000500.9(CYP21A2):c.50G>T (p.Arg17Leu)	CYP21A2, LOC106780800 (R17L)	Single nucleotide variant (missense variant +1 more)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GUncertain significance
Select item 3254748	NM_000500.9(CYP21A2):c.59G>A (p.Trp20Ter)	LOC106780800, CYP21A2 (W20*)	Single nucleotide variant (nonsense +1 more)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GPathogenic
Select item 804727	NM_000500.9(CYP21A2):c.60G>A (p.Trp20Ter)	CYP21A2, LOC106780800 (W20*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 3064076	NM_000500.9(CYP21A2):c.68G>A (p.Trp23Ter)	CYP21A2, LOC106780800 (W23*)	Single nucleotide variant (nonsense +1 more)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GLikely pathogenic
Select item 434880	NM_000500.9(CYP21A2):c.69G>T (p.Trp23Cys)	CYP21A2, LOC106780800 (W23C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 12176	NM_000500.9(CYP21A2):c.85dup (p.His29fs)	LOC106780800, CYP21A2 (H29fs)	Duplication (frameshift variant +1 more)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GPathogenic
Select item 585756	NM_000500.9(CYP21A2):c.89T>A (p.Leu30His)	CYP21A2, LOC106780800 (L30H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2573056	NM_000500.9(CYP21A2):c.91C>T (p.Pro31Ser)	CYP21A2, LOC106780800 (P31S)	Single nucleotide variant (missense variant +1 more)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GLikely pathogenic
Select item 988330	NM_000500.9(CYP21A2):c.92C>A (p.Pro31Gln)	CYP21A2, LOC106780800 (P31Q)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 12153	NM_000500.9(CYP21A2):c.92C>T (p.Pro31Leu)	LOC106780800, CYP21A2 (P31L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 1807429	NM_000500.9(CYP21A2):c.94C>T (p.Pro32Ser)	CYP21A2, LOC106780800 (P32S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2431400	NM_000500.9(CYP21A2):c.104C>T (p.Pro35Leu)	CYP21A2, LOC106780800 (P35L)	Single nucleotide variant (missense variant +1 more)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GUncertain significance
Select item 988473	NM_000500.9(CYP21A2):c.111del (p.Leu38fs)	CYP21A2, LOC106780800 (L38fs)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 1451631	NM_000500.9(CYP21A2):c.116A>T (p.His39Leu)	CYP21A2, LOC106780800 (H39L)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 256286	NM_000500.9(CYP21A2):c.118C>T (p.Leu40=)	CYP21A2, LOC106780800	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 1458325	NM_000500.9(CYP21A2):c.124C>T (p.Gln42Ter)	CYP21A2, LOC106780800 (Q42*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 800573	NM_000500.9(CYP21A2):c.137C>G (p.Pro46Arg)	LOC106780800, CYP21A2 (P46R)	Single nucleotide variant (missense variant +1 more)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GUncertain significance
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 1264336	NM_000500.9(CYP21A2):c.143A>G (p.Tyr48Cys)	CYP21A2, LOC106780800 (Y48C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 266040	NM_000500.9(CYP21A2):c.159_160del (p.Gln54fs)	CYP21A2, LOC106780800 (Q54fs)	Deletion (frameshift variant +1 more)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GLikely pathogenic
Select item 988420	NM_000500.9(CYP21A2):c.169G>A (p.Gly57Arg)	CYP21A2, LOC106780800 (G57R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 12183	NM_000500.9(CYP21A2):c.188A>T (p.His63Leu)	LOC106780800, CYP21A2 (H63L)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 800575	NM_000500.9(CYP21A2):c.203-46C>T	CYP21A2, LOC106780800	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 800574	NM_000500.9(CYP21A2):c.203-18G>C	CYP21A2, LOC106780800	Single nucleotide variant (intron variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GBenign
Select item 585751	NM_000500.9(CYP21A2):c.227G>A (p.Arg76Lys)	CYP21A2, LOC106780800 (R76K)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3032291	NM_000500.9(CYP21A2):c.233T>C (p.Ile78Thr)	CYP21A2, LOC106780800 (I78T)	Single nucleotide variant (missense variant +2 more)	Congenital adrenal hyperplasia	GPathogenic
Select item 623477	NM_000500.9(CYP21A2):c.254del (p.Lys85fs)	CYP21A2, LOC106780800 (K85fs)	Deletion (frameshift variant +2 more)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GLikely pathogenic
Select item 800576	NM_000500.9(CYP21A2):c.268G>T (p.Ala90Ser)	CYP21A2, LOC106780800 (A90S)	Single nucleotide variant (missense variant +2 more)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GUncertain significance
Select item 448906	NM_000500.9(CYP21A2):c.274A>G (p.Arg92Gly)	CYP21A2, LOC106780800 (R92G)	Single nucleotide variant (missense variant +2 more)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GLikely pathogenic
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 800577	NM_000500.9(CYP21A2):c.292+3A>G	CYP21A2, LOC106780800	Single nucleotide variant (intron variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GUncertain significance
Select item 3354998	NM_000500.9(CYP21A2):c.292+5G>A	CYP21A2, LOC106780800	Single nucleotide variant (intron variant)	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 2684169	NM_000500.9(CYP21A2):c.292+10G>A	CYP21A2, LOC106780800	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 800578	NM_000500.9(CYP21A2):c.292+37T>A	CYP21A2, LOC106780800	Single nucleotide variant (intron variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GLikely benign
Select item 800579	NM_000500.9(CYP21A2):c.292+45_292+46insTGT	CYP21A2, LOC106780800	Insertion (intron variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GLikely benign
Select item 800580	NM_000500.9(CYP21A2):c.292+56T>G	CYP21A2, LOC106780800	Single nucleotide variant (intron variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GLikely benign
Select item 800581	NM_000500.9(CYP21A2):c.292+109C>G	CYP21A2, LOC106780800	Single nucleotide variant (intron variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GBenign
Select item 800582	NM_000500.9(CYP21A2):c.293-136C>T	CYP21A2, LOC106780800	Single nucleotide variant (intron variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GLikely benign
Select item 800583	NM_000500.9(CYP21A2):c.293-131_293-129dup	CYP21A2, LOC106780800	Duplication (intron variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GUncertain significance
Select item 800585	NM_000500.9(CYP21A2):c.293-130C>T	CYP21A2, LOC106780800	Single nucleotide variant (intron variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GBenign
Select item 800586	NM_000500.9(CYP21A2):c.293-115C>G	CYP21A2, LOC106780800	Single nucleotide variant (intron variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GBenign
Select item 800584	NM_000500.9(CYP21A2):c.293-100_293-99insG	CYP21A2, LOC106780800	Insertion (intron variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GUncertain significance
Select item 800587	NM_000500.9(CYP21A2):c.293-96G>T	CYP21A2, LOC106780800	Single nucleotide variant (intron variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GBenign
Select item 800588	NM_000500.9(CYP21A2):c.293-95G>C	CYP21A2, LOC106780800	Single nucleotide variant (intron variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GBenign
Select item 800589	NM_000500.9(CYP21A2):c.293-94T>A	CYP21A2, LOC106780800	Single nucleotide variant (intron variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GBenign
Select item 800590	NM_000500.9(CYP21A2):c.293-91G>A	CYP21A2, LOC106780800	Single nucleotide variant (intron variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GBenign
Select item 800591	NM_000500.9(CYP21A2):c.293-89A>G	CYP21A2, LOC106780800	Single nucleotide variant (intron variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GBenign
Select item 800592	NM_000500.9(CYP21A2):c.293-88G>A	CYP21A2, LOC106780800	Single nucleotide variant (intron variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GBenign
Select item 800593	NM_000500.9(CYP21A2):c.293-80G>A	CYP21A2, LOC106780800	Single nucleotide variant (intron variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GBenign
Select item 430830	NM_000500.9(CYP21A2):c.293-13C>T	CYP21A2, LOC106780800	Single nucleotide variant (5 prime UTR variant +1 more)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Gnot provided
Select item 196278	NM_000500.9(CYP21A2):c.293-13C>A	CYP21A2, LOC106780800	Single nucleotide variant (5 prime UTR variant +1 more)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency +2 more	GBenign
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 +5 more	GPathogenic/Likely pathogenic
Select item 35993	NM_000500.9(CYP21A2):c.293-7C>G	CYP21A2, LOC106780800	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital adrenal hyperplasia	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 12177	NM_000500.9(CYP21A2):c.293-2A>G	CYP21A2, LOC106780800	Single nucleotide variant (5 prime UTR variant +1 more)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GPathogenic
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 2439638	NM_000500.9(CYP21A2):c.303_304del (p.Val101_Ser102insTer)	CYP21A2, LOC106780800	Microsatellite (frameshift variant +1 more)	not provided	GLikely 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 2477284	NM_000500.9(CYP21A2):c.314A>G (p.Tyr105Cys)	CYP21A2, LOC106780800 (Y105C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1329456	NM_000500.9(CYP21A2):c.317C>T (p.Pro106Leu)	CYP21A2, LOC106780800 (P106L +1 more)	Single nucleotide variant (missense variant +1 more)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
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 +1 more	GBenign/Likely benign
Select item 800611	NM_000500.9(CYP21A2):c.322C>T (p.Leu108=)	CYP21A2, LOC106780800	Single nucleotide variant (synonymous variant +1 more)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GBenign
Select item 35994	NM_000500.9(CYP21A2):c.327C>G (p.Ser109=)	CYP21A2, LOC106780800	Single nucleotide variant (synonymous variant +1 more)	Congenital adrenal hyperplasia +2 more	GConflicting classifications of pathogenicity
Select item 804726	NM_000500.9(CYP21A2):c.332del (p.Gly111fs)	CYP21A2, LOC106780800 (G111fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
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 3336156	NM_000500.9(CYP21A2):c.340T>G (p.Ser114Ala)	CYP21A2, LOC106780800 (S114A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3347624	NM_000500.9(CYP21A2):c.341C>A (p.Ser114Tyr)	CYP21A2, LOC106780800 (S114Y +1 more)	Single nucleotide variant (missense variant +1 more)	CYP21A2-related disorder	GLikely pathogenic

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