"Eurofins Ntd Llc (ga)"[submitter] AND "LOC106780800"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 93160	NM_000500.9(CYP21A2):c.17TGC[4] (p.Leu10del)	CYP21A2, LOC106780800 +1 more (L10del)	Microsatellite (inframe_deletion +1 more)	not specified +1 more	GBenign
Select item 286900	NM_000500.9(CYP21A2):c.45C>T (p.Gly15=)	CYP21A2, LOC106780800	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 12183	NM_000500.9(CYP21A2):c.188A>T (p.His63Leu)	LOC106780800, CYP21A2 (H63L)	Single nucleotide variant (missense variant +1 more)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency +3 more	GConflicting classifications of pathogenicity
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 12155	NM_000500.9(CYP21A2):c.293-13C>G	CYP21A2, LOC106780800	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital adrenal hyperplasia +4 more	GPathogenic/Likely pathogenic
Select item 256290	NM_000500.9(CYP21A2):c.293-4G>A	CYP21A2, LOC106780800	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GLikely benign
Select item 12150	NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn)	CYP21A2, LOC106780800 (I173N +2 more)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia +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)	Congenital adrenal hyperplasia +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 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 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
Select item 596309	NM_000500.9(CYP21A2):c.1447C>T (p.Pro483Ser)	LOC106780800, CYP21A2 (P483S +2 more)	Single nucleotide variant (missense variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency +1 more	GPathogenic
Select item 193596	NM_000500.9(CYP21A2):c.1481G>A (p.Ser494Asn)	CYP21A2, LOC106780800 (S494N +2 more)	Single nucleotide variant (missense variant)	not specified	GBenign