ClinVar for MedGen (Select 462405) - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068398	NM_000781.3(CYP11A1):c.740_744dup (p.Asn249fs)	CYP11A1 (N249fs +1 more)	Duplication (frameshift variant)	Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency	GPathogenic
Select item 1804908	NM_000781.3(CYP11A1):c.425+4A>T	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	GUncertain significance
Select item 1435911	NM_000781.3(CYP11A1):c.683C>G (p.Pro228Arg)	CYP11A1 (P70R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1327913	NM_000781.3(CYP11A1):c.1351C>T (p.Arg451Trp)	CYP11A1 (R293W +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 +1 more	GPathogenic/Likely pathogenic
Select item 1322181	NM_000781.3(CYP11A1):c.694C>T (p.Arg232Ter)	CYP11A1 (R232* +1 more)	Single nucleotide variant (nonsense)	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 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 1048815	NM_000781.3(CYP11A1):c.1294C>T (p.Pro432Ser)	CYP11A1 (P274S +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 930031	NM_000781.3(CYP11A1):c.391C>T (p.Gln131Ter)	CYP11A1 (Q131*)	Single nucleotide variant (nonsense +1 more)	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 888158	NM_000781.3(CYP11A1):c.371C>T (p.Pro124Leu)	CYP11A1 (P124L)	Single nucleotide variant (missense variant +1 more)	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 888157	NM_000781.3(CYP11A1):c.625+15A>G	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	GConflicting classifications of pathogenicity
Select item 888156	NM_000781.3(CYP11A1):c.757G>C (p.Asp253His)	CYP11A1 (D253H +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 886880	NM_000781.3(CYP11A1):c.915C>G (p.Leu305=)	CYP11A1	Single nucleotide variant (synonymous variant)	Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 886879	NM_000781.3(CYP11A1):c.999G>A (p.Met333Ile)	CYP11A1 (M333I +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 886878	NM_000781.3(CYP11A1):c.1073C>T (p.Ala358Val)	CYP11A1 (A358V +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 885040	NM_000781.3(CYP11A1):c.23C>T (p.Pro8Leu)	CYP11A1 (P8L)	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 885039	NM_000781.3(CYP11A1):c.25C>T (p.Arg9Cys)	CYP11A1 (R9C)	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 885038	NM_000781.3(CYP11A1):c.280G>A (p.Gly94Ser)	CYP11A1 (G94S)	Single nucleotide variant (missense variant +1 more)	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 807293	NM_000781.3(CYP11A1):c.1295C>T (p.Pro432Leu)	CYP11A1 (P432L +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 +1 more	GUncertain significance
Select item 780058	NM_000781.3(CYP11A1):c.535G>A (p.Val179Ile)	CYP11A1 (V21I +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 750377	NM_000781.3(CYP11A1):c.1091A>G (p.Gln364Arg)	CYP11A1 (Q206R +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 +1 more	GBenign/Likely benign
Select item 735655	NM_000781.3(CYP11A1):c.1158-5C>T	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 +3 more	GBenign/Likely benign
Select item 724849	NM_000781.3(CYP11A1):c.1167C>T (p.Pro389=)	CYP11A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 723084	NM_000781.3(CYP11A1):c.261G>A (p.Pro87=)	CYP11A1	Single nucleotide variant (synonymous variant)	Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency +2 more	GConflicting classifications of pathogenicity
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 712169	NM_000781.3(CYP11A1):c.438C>T (p.Ala146=)	CYP11A1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 631742	NM_000781.3(CYP11A1):c.508_509del (p.Leu170fs)	CYP11A1 (L170fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 434877	NM_000781.3(CYP11A1):c.650A>C (p.Glu217Ala)	CYP11A1 (E217A +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 +3 more	GLikely benign
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 403725	NM_000781.3(CYP11A1):c.937T>C (p.Phe313Leu)	CYP11A1 (F313L +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 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 317136	NM_000781.3(CYP11A1):c.-59A>G	CYP11A1, LOC108964933	Single nucleotide variant (5 prime UTR 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 317135	NM_000781.3(CYP11A1):c.-35A>G	CYP11A1, LOC108964933	Single nucleotide variant (5 prime UTR 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 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
Select item 317133	NM_000781.3(CYP11A1):c.93G>A (p.Arg31=)	CYP11A1	Single nucleotide variant (synonymous variant)	Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 317132	NM_000781.3(CYP11A1):c.235G>A (p.Val79Ile)	CYP11A1 (V79I)	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 +1 more	GConflicting classifications of pathogenicity
Select item 317131	NM_000781.3(CYP11A1):c.269+4A>G	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 +2 more	GConflicting classifications of pathogenicity
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 317128	NM_000781.3(CYP11A1):c.589G>C (p.Asp197His)	CYP11A1 (D197H +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 317127	NM_000781.3(CYP11A1):c.830-14C>G	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	GBenign/Likely benign
Select item 317126	NM_000781.3(CYP11A1):c.939C>T (p.Phe313=)	CYP11A1	Single nucleotide variant (synonymous variant)	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 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 317124	NM_000781.3(CYP11A1):c.1164C>T (p.His388=)	CYP11A1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 317123	NM_000781.3(CYP11A1):c.1201G>A (p.Asp401Asn)	CYP11A1 (D401N +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 280943	NM_000781.3(CYP11A1):c.968T>A (p.Met323Lys)	CYP11A1 (M323K +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 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 +2 more	GPathogenic
Select item 29625	NM_000781.3(CYP11A1):c.665T>C (p.Leu222Pro)	CYP11A1 (L222P +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	GPathogenic
Select item 17523	NM_000781.3(CYP11A1):c.1244T>A (p.Val415Glu)	CYP11A1 (V415E +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	GPathogenic
Select item 17522	NM_000781.3(CYP11A1):c.422T>G (p.Leu141Trp)	CYP11A1 (L141W)	Single nucleotide variant (missense 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 17521	NM_000781.3(CYP11A1):c.625+2dup	CYP11A1	Duplication (splice donor variant)	not provided	GLikely pathogenic
Select item 17520	NM_000781.3(CYP11A1):c.1076C>T (p.Ala359Val)	CYP11A1 (A359V +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	GPathogenic
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 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 17516	NM_000781.3(CYP11A1):c.809_814dup (p.Asp271_Val272insGlyAsp)	CYP11A1	Duplication (inframe_insertion)	Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency	GPathogenic

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Items: 53