"Fulgent Genetics, Fulgent Genetics"[submitter] AND "CYP11A1"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 807293	NM_000781.3(CYP11A1):c.1295C>T (p.Pro432Leu)	CYP11A1 (P432L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1048815	NM_000781.3(CYP11A1):c.1294C>T (p.Pro432Ser)	CYP11A1 (P274S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 722882	NM_000781.3(CYP11A1):c.1290C>T (p.Phe430=)	CYP11A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 317125	NM_000781.3(CYP11A1):c.1099A>T (p.Met367Leu)	CYP11A1 (M367L +1 more)	Single nucleotide variant (missense variant)	Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency	GUncertain significance
Select item 17517	NM_000781.3(CYP11A1):c.1057C>T (p.Arg353Trp)	CYP11A1 (R353W +1 more)	Single nucleotide variant (missense variant)	Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency	GLikely pathogenic
Select item 372354	NM_000781.3(CYP11A1):c.940G>A (p.Glu314Lys)	CYP11A1 (E314K +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 265094	NM_000781.3(CYP11A1):c.835del (p.Ile279fs)	CYP11A1 (I121fs +1 more)	Deletion (frameshift variant)	Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency +1 more	GPathogenic
Select item 434876	NM_000781.3(CYP11A1):c.829+3G>C	CYP11A1	Single nucleotide variant (intron variant)	Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency +1 more	GUncertain significance
Select item 1435911	NM_000781.3(CYP11A1):c.683C>G (p.Pro228Arg)	CYP11A1 (P70R +1 more)	Single nucleotide variant (missense variant)	Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency +2 more	GUncertain significance
Select item 17518	NM_000781.3(CYP11A1):c.566C>T (p.Ala189Val)	CYP11A1 (A189V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 712169	NM_000781.3(CYP11A1):c.438C>T (p.Ala146=)	CYP11A1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 317130	NM_000781.3(CYP11A1):c.366C>T (p.Leu122=)	CYP11A1	Single nucleotide variant (synonymous variant +1 more)	Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency +1 more	GBenign/Likely benign
Select item 1179133	NM_000781.3(CYP11A1):c.358del (p.Arg120fs)	CYP11A1 (R120fs)	Deletion (frameshift variant +1 more)	Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency	GPathogenic
Select item 317134	NM_000781.3(CYP11A1):c.86G>A (p.Arg29His)	CYP11A1 (R29H)	Single nucleotide variant (missense variant)	Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency	GUncertain significance