"Myriad Genetics, Inc."[submitter] AND "CYP21A2"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 12153	NM_000500.9(CYP21A2):c.92C>T (p.Pro31Leu)	CYP21A2, LOC106780800 (P31L)	Single nucleotide variant (missense variant +1 more)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency +1 more	GPathogenic
Select item 12155	NM_000500.9(CYP21A2):c.293-13C>G	CYP21A2, LOC106780800	Single nucleotide variant (5 prime UTR variant +1 more)	Adrenal hyperplasia +5 more	GPathogenic/Likely pathogenic
Select item 12164	NM_000500.9(CYP21A2):c.332_339del (p.Gly111fs)	CYP21A2, LOC106780800 (G81fs +1 more)	Deletion (frameshift variant +1 more)	not provided +1 more	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 189145	NM_000500.9(CYP21A2):c.710_719delinsACGAGGAGAA (p.Ile237_Met240delinsAsnGluGluLys)	CYP21A2, LOC106780800	Indel (missense variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency +1 more	GPathogenic
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 12169	NM_000500.7(CYP21A2):c.955C>T (p.Gln319Ter)	CYP21A2, LOC106780800 +1 more (Q319* +2 more)	Single nucleotide variant (nonsense)	not provided +2 more	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)	not provided +2 more	GPathogenic