"GeneDx"[submitter] AND "CYP21A2"[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 426602	NM_000500.9(CYP21A2):c.527T>C (p.Leu176Pro)	CYP21A2, LOC106780800 (L176P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 12151	NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu)	CYP21A2, LOC106780800 (V282L +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 256285	NM_000500.9(CYP21A2):c.1125C>T (p.Ser375=)	CYP21A2, LOC106780800 +1 more	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1326464	NC_000006.12:g.32040823C>T	CYP21A2, LOC106780800 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1326144	NC_000006.12:g.32040847C>T	CYP21A2, LOC106780800 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 445854	NM_000500.9(CYP21A2):c.1439G>T (p.Arg480Leu)	CYP21A2, LOC106780800 +1 more (R480L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 585746	NM_000500.9(CYP21A2):c.*12C>T	CYP21A2, TNXB	Single nucleotide variant (3 prime UTR variant)	not provided	GConflicting classifications of pathogenicity
Select item 1235972	NM_001365276.2(TNXB):c.*163G>A	CYP21A2, TNXB	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome due to tenascin-X deficiency +2 more	GBenign
Select item 1206744	NM_001365276.2(TNXB):c.*159G>C	CYP21A2, TNXB	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
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
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 1231280	NM_001365276.2(TNXB):c.12634-52A>G	CYP21A2, TNXB	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1264810	NM_001365276.2(TNXB):c.12634-57C>T	CYP21A2, TNXB	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1183188	NM_001365276.2(TNXB):c.12634-74T>C	CYP21A2, TNXB	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1193121	NM_001365276.2(TNXB):c.12634-100G>A	CYP21A2, TNXB	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1191218	NM_001365276.2(TNXB):c.12634-124G>A	CYP21A2, TNXB	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1194012	NM_001365276.2(TNXB):c.12634-127A>G	CYP21A2, TNXB	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1211154	NM_001365276.2(TNXB):c.12352A>T (p.Met4118Leu)	CYP21A2, LOC106780803 +1 more (M4116L +2 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +1 more	GUncertain significance

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Items: 20