"Lifecell International Pvt. Ltd"[submitter] AND "CYP21A2"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 987867	NM_000500.9(CYP21A2):c.-113G>A	CYP21A2, LOC106780800 +1 more	Single nucleotide variant	Congenital adrenal hyperplasia	GLikely pathogenic
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 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 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
Select item 1328965	NM_000500.9(CYP21A2):c.1075G>A (p.Val359Ile)	CYP21A2, LOC106780800 (V224I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 997808	NM_000500.9(CYP21A2):c.1118+2T>C	CYP21A2, LOC106780800	Single nucleotide variant (splice donor variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GPathogenic