"Fulgent Genetics, Fulgent Genetics"[submitter] AND "CYP21A2"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 804728	NM_000500.9(CYP21A2):c.803C>T (p.Pro268Leu)	CYP21A2, LOC106780800 (P133L +2 more)	Single nucleotide variant (missense variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency +2 more	GBenign/Likely benign
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 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 +1 more	GLikely pathogenic
Select item 65611	NM_000500.9(CYP21A2):c.923dup (p.Leu308fs)	CYP21A2, LOC106780800 (L173fs +2 more)	Duplication (frameshift variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency +1 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
Select item 225335	NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr)	CYP21A2, LOC106780800 (A392T +2 more)	Single nucleotide variant (missense variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 12179	NM_000500.9(CYP21A2):c.1225C>T (p.Arg409Cys)	CYP21A2, LOC106780800 (R274C +2 more)	Single nucleotide variant (missense variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency +1 more	GPathogenic
Select item 804725	NM_000500.9(CYP21A2):c.1273G>A (p.Gly425Ser)	CYP21A2, LOC106780800 (G290S +2 more)	Single nucleotide variant (missense variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 193595	NM_000500.9(CYP21A2):c.1306C>T (p.Arg436Cys)	CYP21A2, LOC106780800 (R436C +2 more)	Single nucleotide variant (missense variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 12159	NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser)	CYP21A2, LOC106780800 (P454S +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 585747	NM_000500.9(CYP21A2):c.*13G>A	CYP21A2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	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