"Clinical Genetics and Genomics, Karolinska University Hospital"[submi - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 988473	NM_000500.9(CYP21A2):c.111del (p.Leu38fs)	CYP21A2, LOC106780800 (L38fs)	Deletion (frameshift variant +1 more)	not provided	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 988507	NM_000500.9(CYP21A2):c.418G>A (p.Val140Met)	CYP21A2, LOC106780800 (V110M +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 988345	NM_000500.9(CYP21A2):c.421G>A (p.Glu141Lys)	LOC106780800, CYP21A2 (E111K +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 988339	NM_000500.9(CYP21A2):c.515T>A (p.Ile172Asn)	CYP21A2, LOC106780800 (I142N +2 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 12150	NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn)	CYP21A2, LOC106780800 (I173N +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 242761	NM_000500.9(CYP21A2):c.710T>A (p.Ile237Asn)	CYP21A2, LOC106780800 (I237N +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 12173	NM_000500.9(CYP21A2):c.713T>A (p.Val238Glu)	LOC106780800, CYP21A2 (V238E +2 more)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia +2 more	GConflicting classifications of pathogenicity
Select item 242688	NM_000500.9(CYP21A2):c.719T>A (p.Met240Lys)	CYP21A2, LOC106780800 (M240K +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 12151	NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu)	CYP21A2, LOC106780800 (V282L +2 more)	Single nucleotide variant (missense variant)	CYP21A2-related condition +4 more	GPathogenic/Likely pathogenic
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 12156	NM_000500.9(CYP21A2):c.874G>A (p.Gly292Ser)	CYP21A2, LOC106780800 (G292S +2 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 65611	NM_000500.9(CYP21A2):c.923dup (p.Leu308fs)	CYP21A2, LOC106780800 (L173fs +2 more)	Duplication (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 988572	NM_000500.9(CYP21A2):c.923_924dup (p.Leu309fs)	CYP21A2, LOC106780800 (L174fs +2 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 988276	NM_000500.9(CYP21A2):c.952C>T (p.Leu318=)	CYP21A2, LOC106780800	Single nucleotide variant (synonymous variant)	not provided	GPathogenic
Select item 988370	NM_000500.9(CYP21A2):c.955C>G (p.Gln319Glu)	CYP21A2, LOC106780800 (Q184E +2 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 12169	NM_000500.7(CYP21A2):c.955C>T (p.Gln319Ter)	CYP21A2, LOC106780800 +1 more (Q319* +2 more)	Single nucleotide variant (nonsense)	CYP21A2-related condition +3 more	GPathogenic
Select item 988384	NM_000500.9(CYP21A2):c.1051G>A (p.Ala351Thr)	CYP21A2, LOC106780800 (A216T +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 988286	NM_000500.9(CYP21A2):c.1066C>T (p.Leu356=)	CYP21A2, LOC106780800	Single nucleotide variant (synonymous variant)	not provided	GPathogenic
Select item 12152	NM_000500.9(CYP21A2):c.1069C>T (p.Arg357Trp)	CYP21A2, LOC106780800 +1 more (R357W +2 more)	Single nucleotide variant (missense variant)	CYP21A2-related condition +2 more	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 988353	NM_000500.9(CYP21A2):c.1096C>T (p.His366Tyr)	CYP21A2, LOC106780800 (H231Y +2 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 988452	NM_000500.9(CYP21A2):c.1357C>T (p.Leu453=)	CYP21A2, LOC106780800	Single nucleotide variant (synonymous variant)	not provided	GPathogenic
Select item 12159	NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser)	CYP21A2, LOC106780800 (P454S +2 more)	Single nucleotide variant (missense variant)	CYP21A2-related condition +4 more	GPathogenic/Likely pathogenic
Select item 988506	NM_000500.9(CYP21A2):c.1444C>T (p.Gln482Ter)	CYP21A2, LOC106780800 (Q347* +2 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 800608	NM_000500.9(CYP21A2):c.1450dup (p.Arg484fs)	CYP21A2, LOC106780800 (R349fs +2 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic

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Items: 28