ClinVar for MedGen (Select 462405) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3779555	NM_000781.3(CYP11A1):c.270-1G>C	CYP11A1	Single nucleotide variant (splice acceptor 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 3577710	NM_000781.3(CYP11A1):c.44G>A (p.Gly15Asp)	CYP11A1 (G15D)	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 3577709	NM_000781.3(CYP11A1):c.49C>T (p.Gln17Ter)	CYP11A1 (Q17*)	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	GLikely pathogenic
Select item 3577708	NM_000781.3(CYP11A1):c.55T>C (p.Phe19Leu)	CYP11A1 (F19L)	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 3577707	NM_000781.3(CYP11A1):c.62G>T (p.Ser21Ile)	CYP11A1 (S21I)	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 3577706	NM_000781.3(CYP11A1):c.65C>T (p.Ala22Val)	CYP11A1 (A22V)	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 3577705	NM_000781.3(CYP11A1):c.106G>A (p.Glu36Lys)	CYP11A1 (E36K)	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 3577704	NM_000781.3(CYP11A1):c.83_116del (p.Gly28fs)	CYP11A1 (G28fs)	Deletion (frameshift 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 3577703	NM_000781.3(CYP11A1):c.119T>C (p.Ile40Thr)	CYP11A1 (I40T)	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 3577702	NM_000781.3(CYP11A1):c.128G>A (p.Arg43His)	CYP11A1 (R43H)	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 3577701	NM_000781.3(CYP11A1):c.136C>T (p.Arg46Cys)	CYP11A1 (R46C)	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 3577700	NM_000781.3(CYP11A1):c.146A>T (p.Asn49Ile)	CYP11A1 (N49I)	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 3577699	NM_000781.3(CYP11A1):c.150G>C (p.Glu50Asp)	CYP11A1 (E50D)	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 3577698	NM_000781.3(CYP11A1):c.206C>T (p.Thr69Met)	CYP11A1 (T69M)	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 3577697	NM_000781.3(CYP11A1):c.227T>C (p.Leu76Pro)	CYP11A1 (L76P)	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 3577696	NM_000781.3(CYP11A1):c.246C>A (p.Phe82Leu)	CYP11A1 (F82L)	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 3577695	NM_000781.3(CYP11A1):c.296T>C (p.Val99Ala)	CYP11A1 (V99A)	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 3577694	NM_000781.3(CYP11A1):c.311C>T (p.Pro104Leu)	CYP11A1 (P104L)	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 3577693	NM_000781.3(CYP11A1):c.370C>A (p.Pro124Thr)	CYP11A1 (P124T)	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 3577692	NM_000781.3(CYP11A1):c.497A>G (p.Asn166Ser)	CYP11A1 (N8S +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 3577691	NM_000781.3(CYP11A1):c.517G>A (p.Ala173Thr)	CYP11A1 (A173T +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 3577690	NM_000781.3(CYP11A1):c.551G>A (p.Arg184Lys)	CYP11A1 (R26K +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 3577688	NM_000781.3(CYP11A1):c.553C>T (p.Arg185Cys)	CYP11A1 (R185C +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 3577687	NM_000781.3(CYP11A1):c.644T>C (p.Phe215Ser)	CYP11A1 (F215S +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 3577686	NM_000781.3(CYP11A1):c.653G>T (p.Arg218Leu)	CYP11A1 (R218L +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 3577685	NM_000781.3(CYP11A1):c.681C>A (p.Asn227Lys)	CYP11A1 (N69K +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 3577684	NM_000781.3(CYP11A1):c.742C>A (p.Leu248Ile)	CYP11A1 (L248I +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 3577683	NM_000781.3(CYP11A1):c.748C>T (p.Leu250Phe)	CYP11A1 (L250F +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 3577682	NM_000781.3(CYP11A1):c.785C>G (p.Thr262Ser)	CYP11A1 (T262S +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 3577681	NM_000781.3(CYP11A1):c.804del (p.Ala269fs)	CYP11A1 (A111fs +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	GLikely pathogenic
Select item 3577680	NM_000781.3(CYP11A1):c.851_853del (p.Phe284del)	CYP11A1 (F126del +1 more)	Deletion	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 3577679	NM_000781.3(CYP11A1):c.864del (p.Arg289fs)	CYP11A1 (R131fs +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	GLikely pathogenic
Select item 3577678	NM_000781.3(CYP11A1):c.869A>C (p.Gln290Pro)	CYP11A1 (Q132P +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 3577677	NM_000781.3(CYP11A1):c.889G>A (p.Asp297Asn)	CYP11A1 (D139N +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 3577676	NM_000781.3(CYP11A1):c.1026_1030delinsAGCAA (p.Met342_Arg344delinsIleAlaSer)	CYP11A1	Indel (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 3577675	NM_000781.3(CYP11A1):c.1030C>T (p.Arg344Cys)	CYP11A1 (R186C +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 3577674	NM_000781.3(CYP11A1):c.1031G>A (p.Arg344His)	CYP11A1 (R344H +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 3577673	NM_000781.3(CYP11A1):c.1057C>G (p.Arg353Gly)	CYP11A1 (R195G +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 3577672	NM_000781.3(CYP11A1):c.1094G>A (p.Gly365Glu)	CYP11A1 (G365E +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 3577671	NM_000781.3(CYP11A1):c.1094del (p.Gly365fs)	CYP11A1 (G365fs +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	GLikely pathogenic
Select item 3577670	NM_000781.3(CYP11A1):c.1106C>T (p.Thr369Met)	CYP11A1 (T211M +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 3577669	NM_000781.3(CYP11A1):c.1183C>A (p.Gln395Lys)	CYP11A1 (Q237K +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 3577668	NM_000781.3(CYP11A1):c.1199del (p.Asn400fs)	CYP11A1 (N242fs +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	GLikely pathogenic
Select item 3577667	NM_000781.3(CYP11A1):c.1216G>C (p.Asp406His)	CYP11A1 (D248H +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 3577665	NM_000781.3(CYP11A1):c.1271G>A (p.Arg424Gln)	CYP11A1 (R266Q +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 3577664	NM_000781.3(CYP11A1):c.1343C>A (p.Thr448Asn)	CYP11A1 (T290N +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 3577663	NM_000781.3(CYP11A1):c.1414A>T (p.Met472Leu)	CYP11A1 (M314L +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 3577662	NM_000781.3(CYP11A1):c.1420A>G (p.Ile474Val)	CYP11A1 (I474V +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 3577661	NM_000781.3(CYP11A1):c.1465C>T (p.His489Tyr)	CYP11A1 (H331Y +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 3577660	NM_000781.3(CYP11A1):c.1523C>T (p.Ser508Phe)	CYP11A1 (S508F +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 3577659	NM_000781.3(CYP11A1):c.1547A>G (p.Gln516Arg)	CYP11A1 (Q516R +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 3499017	NM_000781.3(CYP11A1):c.611G>A (p.Arg204His)	CYP11A1 (R204H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3499016	NM_000781.3(CYP11A1):c.880G>A (p.Val294Ile)	CYP11A1 (V136I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3377723	NM_000781.3(CYP11A1):c.88C>G (p.Leu30Val)	CYP11A1 (L30V)	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 3366611	NM_000781.3(CYP11A1):c.17T>G (p.Leu6Arg)	CYP11A1 (L6R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3336308	NM_000781.3(CYP11A1):c.412G>A (p.Gly138Arg)	CYP11A1 (G138R)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3079353	NM_000781.3(CYP11A1):c.26G>A (p.Arg9His)	CYP11A1 (R9H)	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 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 3008655	NM_000781.3(CYP11A1):c.393G>A (p.Gln131=)	CYP11A1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2915494	NM_000781.3(CYP11A1):c.1378C>T (p.Arg460Trp)	CYP11A1 (R460W +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	GLikely pathogenic
Select item 2866305	NM_000781.3(CYP11A1):c.1195G>T (p.Val399Leu)	CYP11A1 (V241L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2853756	NM_000781.3(CYP11A1):c.830-1G>C	CYP11A1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 2799201	NM_000781.3(CYP11A1):c.202dup (p.Glu68fs)	CYP11A1 (E68fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2603631	NM_000781.3(CYP11A1):c.685G>A (p.Glu229Lys)	CYP11A1 (E71K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2463853	NM_000781.3(CYP11A1):c.478G>A (p.Ala160Thr)	CYP11A1 (A160T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2237322	NM_000781.3(CYP11A1):c.610C>T (p.Arg204Cys)	CYP11A1 (R204C +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 2146209	NM_000781.3(CYP11A1):c.1402G>A (p.Ala468Thr)	CYP11A1 (A468T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 1804587	NM_000781.3(CYP11A1):c.1270C>T (p.Arg424Ter)	CYP11A1 (R266* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1481573	NM_000781.3(CYP11A1):c.806C>T (p.Ala269Val)	CYP11A1 (A111V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
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 1327913	NM_000781.3(CYP11A1):c.1351C>T (p.Arg451Trp)	CYP11A1 (R293W +1 more)	Single nucleotide variant (missense variant)	not provided +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)	not provided +2 more	GPathogenic
Select item 1179133	NM_000781.3(CYP11A1):c.358del (p.Arg120fs)	CYP11A1 (R120fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
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 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)	not provided +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)	Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency +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)	not specified +2 more	GBenign/Likely benign
Select item 724849	NM_000781.3(CYP11A1):c.1167C>T (p.Pro389=)	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 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 +1 more	GConflicting classifications of pathogenicity
Select item 722882	NM_000781.3(CYP11A1):c.1290C>T (p.Phe430=)	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	GLikely benign
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 631742	NM_000781.3(CYP11A1):c.508_509del (p.Leu170fs)	CYP11A1 (L170fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
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 +2 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 379354	NM_000781.3(CYP11A1):c.358C>T (p.Arg120Ter)	CYP11A1 (R120*)	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 +1 more	GPathogenic
Select item 372354	NM_000781.3(CYP11A1):c.940G>A (p.Glu314Lys)	CYP11A1 (E314K +1 more)	Single nucleotide variant (missense variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency +4 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

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