ClinVar for MedGen (Select 424833) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065904	NM_000781.3(CYP11A1):c.707C>A (p.Ala236Asp)	CYP11A1 (A236D +1 more)	Single nucleotide variant (missense variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GUncertain significance
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 2681120	NM_000102.4(CYP17A1):c.987C>G (p.Tyr329Ter)	CYP17A1 (Y329*)	Single nucleotide variant (nonsense)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency +1 more	GPathogenic/Likely pathogenic
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 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 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 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 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 1322181	NM_000781.3(CYP11A1):c.694C>T (p.Arg232Ter)	CYP11A1 (R232* +1 more)	Single nucleotide variant (nonsense)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency +1 more	GPathogenic
Select item 1297041	NM_000500.9:c.(?_-50)_(939+1_940-1)del	CYP21A2	Deletion	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GLikely pathogenic
Select item 1264338	NM_000103.4(CYP19A1):c.1142A>T (p.Asp381Val)	CYP19A1, MIR4713HG +1 more (D381V)	Single nucleotide variant (missense variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GUncertain significance
Select item 1264337	NM_000500.9(CYP21A2):c.1042G>A (p.Ala348Thr)	CYP21A2, LOC106780800 (A213T +2 more)	Single nucleotide variant (missense variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GLikely pathogenic
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 1264335	NM_000500.9(CYP21A2):c.1451G>C (p.Arg484Pro)	CYP21A2, LOC106780800 (R349P +2 more)	Single nucleotide variant (missense variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1264327	NM_000500.9(CYP21A2):c.1274G>T (p.Gly425Val)	CYP21A2, LOC106780800 (G290V +2 more)	Single nucleotide variant (missense variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GLikely pathogenic
Select item 1119995	NM_000500.9(CYP21A2):c.833dup (p.Glu279fs)	CYP21A2, LOC106780800 (E144fs +2 more)	Duplication (frameshift variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GPathogenic
Select item 1119979	NM_000500.9(CYP21A2):c.651+2T>G	LOC106780800, CYP21A2	Single nucleotide variant (splice donor variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GPathogenic
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 997808	NM_000500.9(CYP21A2):c.1118+2T>C	CYP21A2, LOC106780800	Single nucleotide variant (splice donor variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GPathogenic
Select item 988494	NM_000500.9(CYP21A2):c.1070G>C (p.Arg357Pro)	CYP21A2, LOC106780800 (R222P +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 987867	NM_001128590.1(CYP21A2):c.-113G>A	LOC106780800, CYP21A2 +1 more	Single nucleotide variant	Congenital adrenal hyperplasia	GLikely pathogenic
Select item 978019	NM_001395413.1(POR):c.822-35C>T	LOC126860075, POR	Single nucleotide variant (intron variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency +1 more	GBenign/Likely benign
Select item 804728	NM_000500.9(CYP21A2):c.803C>T (p.Pro268Leu)	CYP21A2, LOC106780800 (P133L +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 804725	NM_000500.9(CYP21A2):c.1273G>A (p.Gly425Ser)	CYP21A2, LOC106780800 (G290S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 802198	NM_000500.9(CYP21A2):c.797C>T (p.Ala266Val)	CYP21A2, LOC106780800 (A236V +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 802197	NM_000500.9(CYP21A2):c.597A>T (p.Leu199Phe)	CYP21A2, LOC106780800 (L64F +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 800926	NM_000500.9(CYP21A2):c.850A>G (p.Met284Val)	CYP21A2, LOC106780800 (M254V +2 more)	Single nucleotide variant (missense variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency +2 more	GPathogenic/Likely pathogenic
Select item 800634	NM_000500.9(CYP21A2):c.782T>C (p.Met261Thr)	CYP21A2, LOC106780800 (M126T +2 more)	Single nucleotide variant (missense variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GLikely pathogenic
Select item 800633	NM_000500.9(CYP21A2):c.782T>G (p.Met261Arg)	CYP21A2, LOC106780800 (M126R +2 more)	Single nucleotide variant (missense variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GLikely pathogenic
Select item 800632	NM_000500.9(CYP21A2):c.754G>A (p.Gly252Ser)	CYP21A2, LOC106780800 (G117S +2 more)	Single nucleotide variant (missense variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GLikely pathogenic
Select item 800631	NM_000500.9(CYP21A2):c.739-74G>A	CYP21A2, LOC106780800	Single nucleotide variant (intron variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GUncertain significance
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 800629	NM_000500.9(CYP21A2):c.724C>G (p.Leu242Val)	CYP21A2, LOC106780800 (L107V +2 more)	Single nucleotide variant (missense variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GUncertain significance
Select item 800628	NM_000500.9(CYP21A2):c.652-5C>T	CYP21A2, LOC106780800	Single nucleotide variant (intron variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GBenign
Select item 800627	NM_000500.9(CYP21A2):c.651+35A>G	CYP21A2, LOC106780800	Single nucleotide variant (intron variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GBenign
Select item 800626	NM_000500.9(CYP21A2):c.651+30G>A	CYP21A2, LOC106780800	Single nucleotide variant (intron variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GBenign
Select item 800625	NM_000500.9(CYP21A2):c.559T>G (p.Leu187Val)	CYP21A2, LOC106780800 (L157V +2 more)	Single nucleotide variant (missense variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GLikely pathogenic
Select item 800624	NM_000500.9(CYP21A2):c.550-19C>G	CYP21A2, LOC106780800	Single nucleotide variant (intron variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GBenign
Select item 800623	NM_000500.9(CYP21A2):c.540C>G (p.Asp180Glu)	CYP21A2, LOC106780800 (D150E +2 more)	Single nucleotide variant (missense variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GUncertain significance
Select item 800622	NM_000500.9(CYP21A2):c.525C>A (p.Tyr175Ter)	CYP21A2, LOC106780800 (Y145* +2 more)	Single nucleotide variant (nonsense)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GPathogenic
Select item 800621	NM_000500.9(CYP21A2):c.509G>A (p.Cys170Tyr)	CYP21A2, LOC106780800 (C140Y +2 more)	Single nucleotide variant (missense variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GPathogenic
Select item 800620	NM_000500.9(CYP21A2):c.500T>G (p.Leu167Arg)	CYP21A2, LOC106780800 (L137R +2 more)	Single nucleotide variant (missense variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GUncertain significance
Select item 800619	NM_000500.9(CYP21A2):c.499C>G (p.Leu167Val)	CYP21A2, LOC106780800 (L137V +2 more)	Single nucleotide variant (missense variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GUncertain significance
Select item 800618	NM_000500.9(CYP21A2):c.485A>G (p.Glu162Gly)	CYP21A2, LOC106780800 (E132G +2 more)	Single nucleotide variant (missense variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GUncertain significance
Select item 800617	NM_000500.9(CYP21A2):c.448-3C>T	CYP21A2, LOC106780800	Single nucleotide variant (intron variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GBenign
Select item 800616	NM_000500.9(CYP21A2):c.448-50G>A	CYP21A2, LOC106780800	Single nucleotide variant (intron variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GBenign
Select item 800615	NM_000500.9(CYP21A2):c.447+39G>A	LOC106780800, CYP21A2	Single nucleotide variant (intron variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GBenign
Select item 800614	NM_000500.9(CYP21A2):c.447+38C>T	CYP21A2, LOC106780800	Single nucleotide variant (intron variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GBenign
Select item 800613	NM_000500.9(CYP21A2):c.405C>T (p.Ser135=)	CYP21A2, LOC106780800	Single nucleotide variant (synonymous variant +1 more)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GBenign
Select item 800612	NM_000500.9(CYP21A2):c.382C>T (p.Leu128=)	CYP21A2, LOC106780800	Single nucleotide variant (synonymous variant +1 more)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GBenign
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 800610	NM_000500.9(CYP21A2):c.*18C>T	CYP21A2	Single nucleotide variant (3 prime UTR variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GBenign
Select item 800609	NM_000500.9(CYP21A2):c.*2G>C	CYP21A2, LOC106780800	Single nucleotide variant (3 prime UTR variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GBenign
Select item 800608	NM_000500.9(CYP21A2):c.1450dup (p.Arg484fs)	CYP21A2, LOC106780800 (R349fs +2 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 800607	NM_000500.9(CYP21A2):c.1447C>A (p.Pro483Thr)	CYP21A2, LOC106780800 (P348T +2 more)	Single nucleotide variant (missense variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GUncertain significance
Select item 800606	NM_000500.9(CYP21A2):c.1405A>G (p.Ser469Gly)	CYP21A2, LOC106780800 (S334G +2 more)	Single nucleotide variant (missense variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GUncertain significance
Select item 800605	NM_000500.9(CYP21A2):c.1371C>A (p.Asp457Glu)	CYP21A2, LOC106780800 (D322E +2 more)	Single nucleotide variant (missense variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GUncertain significance
Select item 800604	NM_000500.9(CYP21A2):c.1320C>T (p.Phe440=)	CYP21A2, LOC106780800	Single nucleotide variant (synonymous variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GBenign
Select item 800603	NM_000500.9(CYP21A2):c.1298C>G (p.Pro433Arg)	CYP21A2, LOC106780800 (P298R +2 more)	Single nucleotide variant (missense variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GUncertain significance
Select item 800602	NM_000500.9(CYP21A2):c.1291G>A (p.Gly431Ser)	CYP21A2, LOC106780800 (G296S +2 more)	Single nucleotide variant (missense variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GPathogenic
Select item 800601	NM_000500.9(CYP21A2):c.1272C>A (p.Cys424Ter)	CYP21A2, LOC106780800 (C289* +2 more)	Single nucleotide variant (nonsense)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GPathogenic
Select item 800600	NM_000500.9(CYP21A2):c.1223-3C>G	CYP21A2, LOC106780800	Single nucleotide variant (intron variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GUncertain significance
Select item 800599	NM_000500.9(CYP21A2):c.1223-21C>T	CYP21A2, LOC106780800 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 800598	NM_000500.9(CYP21A2):c.1201A>G (p.Arg401Gly)	CYP21A2, LOC106780800 (R266G +2 more)	Single nucleotide variant (missense variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GUncertain significance
Select item 800597	NM_000500.9(CYP21A2):c.1170A>T (p.Gln390His)	CYP21A2, LOC106780800 (Q255H +2 more)	Single nucleotide variant (missense variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GUncertain significance
Select item 800596	NM_000500.9(CYP21A2):c.1132G>T (p.Asp378Tyr)	CYP21A2, LOC106780800 (D243Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 800595	NM_000500.9(CYP21A2):c.1109G>C (p.Arg370Pro)	CYP21A2, LOC106780800 (R235P +2 more)	Single nucleotide variant (missense variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GUncertain significance
Select item 800594	NM_000500.9(CYP21A2):c.856G>T (p.Ala286Ser)	CYP21A2, LOC106780800 (A151S +2 more)	Single nucleotide variant (missense variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GUncertain significance
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 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 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 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 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 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 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

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