"Institute of Human Genetics, Medical University Innsbruck"[submitter] - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 800573	NM_000500.9(CYP21A2):c.137C>G (p.Pro46Arg)	CYP21A2, LOC106780800 (P46R)	Single nucleotide variant (missense variant +1 more)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GUncertain significance
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 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 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 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 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 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 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 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 800615	NM_000500.9(CYP21A2):c.447+39G>A	CYP21A2, LOC106780800	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 800599	NM_000500.9(CYP21A2):c.1223-21C>T	CYP21A2, LOC106780800 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 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 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 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 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 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 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 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

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Items: 62