ClinVar for Gene (Select 1589) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068887	NC_000006.11:g.(32007425_32007525)_(32007613_32007781)del	CYP21A2	Deletion	Congenital adrenal hyperplasia	GLikely pathogenic
Select item 3068886	NC_000006.11:g.(?_32006191)_(32006402_32006498)del	CYP21A2	Deletion	Congenital adrenal hyperplasia	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 3056666	NM_000500.7(CYP21A2):c.-81A>C	CYP21A2, LOC106780800 +1 more	Single nucleotide variant	CYP21A2-related condition	GUncertain significance
Select item 3056254	NM_000500.9(CYP21A2):c.1192G>A (p.Val398Ile)	CYP21A2, LOC106780800 (V263I +2 more)	Single nucleotide variant (missense variant)	CYP21A2-related condition	GUncertain significance
Select item 3056153	NC_000006.12:g.32038227T>C	CYP21A2, LOC106780800 +1 more	Single nucleotide variant	CYP21A2-related condition	GUncertain significance
Select item 3050942	NM_000500.9(CYP21A2):c.749T>C (p.Val250Ala)	CYP21A2, LOC106780800 (V115A +2 more)	Single nucleotide variant (missense variant)	CYP21A2-related condition	GUncertain significance
Select item 3046177	NM_000500.9(CYP21A2):c.1430T>C (p.Phe477Ser)	CYP21A2, LOC106780800 (F342S +2 more)	Single nucleotide variant (missense variant)	CYP21A2-related condition	GUncertain significance
Select item 3032291	NM_000500.9(CYP21A2):c.233T>C (p.Ile78Thr)	CYP21A2, LOC106780800 (I78T)	Single nucleotide variant (missense variant +2 more)	CYP21A2-related condition	GPathogenic
Select item 3030523	NM_000500.9(CYP21A2):c.1226G>T (p.Arg409Leu)	CYP21A2, LOC106780800 (R274L +2 more)	Single nucleotide variant (missense variant)	CYP21A2-related condition	GPathogenic
Select item 3029608	NM_000500.9(CYP21A2):c.77G>A (p.Arg26Gln)	LOC106780800, CYP21A2 (R26Q)	Single nucleotide variant (missense variant +1 more)	CYP21A2-related condition	GUncertain significance
Select item 3025277	NM_000500.9(CYP21A2):c.1179C>G (p.His393Gln)	CYP21A2, LOC106780800 (H258Q +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2821376	NM_000500.9(CYP21A2):c.510C>T (p.Cys170=)	CYP21A2, LOC106780800	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2749742	NM_000500.9(CYP21A2):c.680_689del (p.Leu227fs)	CYP21A2, LOC106780800 (L197fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2734843	NM_000500.9(CYP21A2):c.1011C>G (p.Tyr337Ter)	CYP21A2, LOC106780800 (Y202* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2734841	NM_000500.9(CYP21A2):c.484G>T (p.Glu162Ter)	CYP21A2, LOC106780800 (E132* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2684169	NM_000500.9(CYP21A2):c.292+10G>A	LOC106780800, CYP21A2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2684168	NM_000500.9(CYP21A2):c.1100G>A (p.Arg367His)	CYP21A2, LOC106780800 (R232H +2 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2682922	NM_001365276.2(TNXB):c.12731G>T (p.Gly4244Val)	CYP21A2, TNXB (G4242V +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2682362	NM_000500.9(CYP21A2):c.1385T>C (p.Leu462Pro)	CYP21A2, LOC106780800 (L327P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2636679	NM_000500.9(CYP21A2):c.1007C>T (p.Pro336Leu)	CYP21A2, LOC106780800 (P201L +2 more)	Single nucleotide variant (missense variant)	CYP21A2-related condition	GUncertain significance
Select item 2636024	NM_000500.7(CYP21A2):c.-102G>A	CYP21A2, LOC106780800 +1 more	Single nucleotide variant	CYP21A2-related condition	GUncertain significance
Select item 2635968	NM_000500.9(CYP21A2):c.1160C>T (p.Pro387Leu)	CYP21A2, LOC106780800 (P252L +2 more)	Single nucleotide variant (missense variant)	CYP21A2-related condition	GLikely pathogenic
Select item 2634176	NM_000500.9(CYP21A2):c.448C>A (p.Arg150Ser)	CYP21A2, LOC106780800 (R120S +2 more)	Single nucleotide variant (missense variant)	CYP21A2-related condition	GUncertain significance
Select item 2632027	NM_000500.7(CYP21A2):c.-73C>T	CYP21A2, LOC106780800 +1 more	Single nucleotide variant	CYP21A2-related condition	GUncertain significance
Select item 2627163	NM_000500.9(CYP21A2):c.1298C>T (p.Pro433Leu)	CYP21A2, LOC106780800 (P298L +2 more)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia	GLikely pathogenic
Select item 2577310	NM_000500.9(CYP21A2):c.1213T>C (p.Phe405Leu)	CYP21A2, LOC106780800 (F270L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2573432	NM_000500.9(CYP21A2):c.1205C>T (p.Pro402Leu)	CYP21A2, LOC106780800 (P267L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2573057	NM_000500.9(CYP21A2):c.497C>G (p.Ser166Cys)	CYP21A2, LOC106780800 (S136C +2 more)	Single nucleotide variant (missense variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GLikely pathogenic
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 2503932	NC_000006.11:g.(32007026_32007132)_(32007983_32008182)del	CYP21A2	Deletion	Congenital adrenal hyperplasia	GLikely pathogenic
Select item 2503931	NM_000500.9(CYP21A2):c.1064G>A (p.Arg355His)	CYP21A2, LOC106780800 (R220H +2 more)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia	GLikely pathogenic
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 2445875	NM_000500.9(CYP21A2):c.601A>G (p.Thr201Ala)	LOC106780800, CYP21A2 (T171A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2445833	NM_000500.9(CYP21A2):c.931C>A (p.His311Asn)	CYP21A2, LOC106780800 (H176N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445792	NM_000500.9(CYP21A2):c.1299G>A (p.Pro433=)	CYP21A2, LOC106780800	Single nucleotide variant (synonymous variant)	not provided +1 more	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 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 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 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	KIFC1, LEMD2 +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 2397794	NM_001365276.2(TNXB):c.12725G>C (p.Gly4242Ala)	TNXB, CYP21A2 (G4240A +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2383417	NM_001365276.2(TNXB):c.12728G>T (p.Gly4243Val)	CYP21A2, TNXB (G4243V +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2265405	NM_000500.9(CYP21A2):c.1342C>A (p.Gln448Lys)	CYP21A2, LOC106780800 (Q313K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259922	NM_000500.9(CYP21A2):c.1138C>T (p.Pro380Ser)	LOC106780800, CYP21A2 (P245S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2136376	NM_000500.9(CYP21A2):c.1333C>T (p.Arg445Ter)	CYP21A2, LOC106780800 (R310* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2136375	NM_000500.9(CYP21A2):c.1280G>C (p.Arg427Pro)	LOC106780800, CYP21A2 (R292P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2136374	NM_000500.9(CYP21A2):c.847C>A (p.His283Asn)	CYP21A2, LOC106780800 (H148N +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2136016	NM_001365276.2(TNXB):c.12712C>T (p.Arg4238Cys)	CYP21A2, TNXB (R4236C +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2084270	NM_000500.9(CYP21A2):c.1108C>T (p.Arg370Trp)	CYP21A2, LOC106780800 (R235W +2 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1879681	GRCh37/hg19 6p21.33(chr6:32006200-32011669)x3	CYP21A2, TNXB	Copy number gain	not provided	GUncertain significance
Select item 1809584	NM_000500.9(CYP21A2):c.917T>G (p.Val306Gly)	CYP21A2, LOC106780800 (V171G +2 more)	Single nucleotide variant (missense variant)	not provided	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 1807431	NM_000500.9(CYP21A2):c.1208A>G (p.His403Arg)	CYP21A2, LOC106780800 (H268R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1807430	NM_000500.9(CYP21A2):c.1132G>A (p.Asp378Asn)	CYP21A2, LOC106780800 (D243N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1807428	NM_000500.9(CYP21A2):c.493T>G (p.Phe165Val)	CYP21A2, LOC106780800 (F135V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1807427	NM_000500.9(CYP21A2):c.448C>T (p.Arg150Cys)	CYP21A2, LOC106780800 (R120C +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1807426	NM_000500.9(CYP21A2):c.397C>T (p.Arg133Cys)	CYP21A2, LOC106780800 (R103C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1723345	NM_000500.9(CYP21A2):c.[710T>A;713T>A]	LOC106780800, CYP21A2 (V238E +5 more)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia	GPathogenic
Select item 1723344	NM_000500.9(CYP21A2):c.[713T>A;719T>A]	LOC106780800, CYP21A2 (V238E +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1723343	NM_000500.9(CYP21A2):c.[710T>A;719T>A]	CYP21A2, LOC106780800 (M240K +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 1705450	NM_000500.9(CYP21A2):c.341C>T (p.Ser114Phe)	CYP21A2, LOC106780800 (S114F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +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 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 1685686	NM_000500.9(CYP21A2):c.923del (p.Leu308fs)	CYP21A2, LOC106780800 (L173fs +2 more)	Deletion (frameshift variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GPathogenic
Select item 1675320	NM_000500.9(CYP21A2):c.1099C>T (p.Arg367Cys)	CYP21A2, LOC106780800 (R232C +2 more)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia +1 more	GConflicting classifications of pathogenicity
Select item 1675319	NM_000500.9(CYP21A2):c.1214T>C (p.Phe405Ser)	CYP21A2, LOC106780800 (F270S +2 more)	Single nucleotide variant (missense variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GUncertain significance
Select item 1675318	NM_000500.9(CYP21A2):c.919T>G (p.Phe307Val)	CYP21A2, LOC106780800 (F172V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1675317	NM_000500.9(CYP21A2):c.913G>A (p.Val305Met)	CYP21A2, LOC106780800 (V170M +2 more)	Single nucleotide variant (missense variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GUncertain significance
Select item 1675316	NM_000500.9(CYP21A2):c.373C>T (p.Arg125Cys)	CYP21A2, LOC106780800 (R125C +1 more)	Single nucleotide variant (missense variant +1 more)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GUncertain significance
Select item 1675315	NM_000500.9(CYP21A2):c.1070G>A (p.Arg357Gln)	CYP21A2, LOC106780800 (R222Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1675314	NM_000500.9(CYP21A2):c.1087G>C (p.Ala363Pro)	CYP21A2, LOC106780800 (A228P +2 more)	Single nucleotide variant (missense variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GUncertain significance
Select item 1675313	NM_000500.9(CYP21A2):c.1063C>T (p.Arg355Cys)	CYP21A2, LOC106780800 (R220C +2 more)	Single nucleotide variant (missense variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 1588316	NM_000500.9(CYP21A2):c.1069C>A (p.Arg357=)	CYP21A2, LOC106780800	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1586352	NM_000500.9(CYP21A2):c.1011C>T (p.Tyr337=)	CYP21A2, LOC106780800	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1548403	NM_000500.9(CYP21A2):c.1131C>T (p.Tyr377=)	CYP21A2, LOC106780800	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1527233	GRCh37/hg19 6p21.33-21.32(chr6:31952482-32243155)	AGER, AGPAT1 +13 more	Copy number gain	not specified	GUncertain significance
Select item 1498831	NM_000500.9(CYP21A2):c.874G>C (p.Gly292Arg)	CYP21A2, LOC106780800 (G262R +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 1455875	NM_000500.9(CYP21A2):c.1450C>T (p.Arg484Trp)	CYP21A2, LOC106780800 (R484W +2 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
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 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 1422248	NM_000500.9(CYP21A2):c.1024C>T (p.Arg342Trp)	CYP21A2, LOC106780800 (R312W +2 more)	Single nucleotide variant (missense variant)	CYP21A2-related condition +1 more	GConflicting classifications of pathogenicity
Select item 1345042	NM_000500.9(CYP21A2):c.738G>A (p.Lys246=)	CYP21A2, LOC106780800	Single nucleotide variant (synonymous variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GUncertain significance
Select item 1345041	NM_000500.9(CYP21A2):c.1064G>C (p.Arg355Pro)	CYP21A2, LOC106780800 (R325P +2 more)	Single nucleotide variant (missense variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GUncertain significance
Select item 1345040	NM_000500.9(CYP21A2):c.835G>A (p.Glu279Lys)	CYP21A2, LOC106780800 (E249K +2 more)	Single nucleotide variant (missense variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GUncertain significance
Select item 1345039	NM_000500.9(CYP21A2):c.1118+1G>A	CYP21A2, LOC106780800	Single nucleotide variant (splice donor variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GLikely pathogenic
Select item 1345038	NM_000500.9(CYP21A2):c.939+5G>A	CYP21A2, LOC106780800	Single nucleotide variant (intron variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GUncertain significance
Select item 1345037	NM_000500.9(CYP21A2):c.405del (p.Met136fs)	CYP21A2, LOC106780800 (M136fs +1 more)	Deletion (frameshift variant +1 more)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GLikely pathogenic
Select item 1345036	NM_000500.9(CYP21A2):c.652-1G>A	CYP21A2, LOC106780800	Single nucleotide variant (splice acceptor variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GLikely pathogenic
Select item 1341485	NM_000500.9(CYP21A2):c.1019G>A (p.Arg340His)	CYP21A2, LOC106780800 (R205H +2 more)	Single nucleotide variant (missense variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GPathogenic
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 1328965	NM_000500.9(CYP21A2):c.1075G>A (p.Val359Ile)	CYP21A2, LOC106780800 (V224I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1326464	NM_000500.9(CYP21A2):c.1223-46C>T	CYP21A2, LOC106780800 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1326144	NM_000500.9(CYP21A2):c.1223-22C>T	CYP21A2, LOC106780800 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign

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