"GeneDx"[submitter] AND "LOC106780800"[gene] - ClinVar - NCBI

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Items: 8

	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