ClinVar for Gene (Select 1583) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366611	NM_000781.3(CYP11A1):c.17T>G (p.Leu6Arg)	CYP11A1 (L6R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3366542	NM_000781.3(CYP11A1):c.1561C>T (p.Gln521Ter)	CYP11A1 (Q363* +1 more)	Single nucleotide variant (nonsense)	not specified	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	GUncertain significance
Select item 3270487	NM_000781.3(CYP11A1):c.209G>A (p.Gly70Asp)	CYP11A1 (G70D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3243817	NC_000015.9:g.(?_72978569)_(75190071_?)del	ADPGK, ARID3B +29 more	Deletion	Brugada syndrome 8	GUncertain significance
Select item 3243780	NC_000015.9:g.(?_74219125)_(77329517_?)del	ARID3B, C15orf39 +47 more	Deletion	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	GUncertain significance
Select item 3079354	NM_000781.3(CYP11A1):c.737C>G (p.Pro246Arg)	CYP11A1 (P88R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079353	NM_000781.3(CYP11A1):c.26G>A (p.Arg9His)	CYP11A1 (R9H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079352	NM_000781.3(CYP11A1):c.1244T>G (p.Val415Gly)	CYP11A1 (V415G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079351	NM_000781.3(CYP11A1):c.1058G>A (p.Arg353Gln)	CYP11A1 (R195Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3065904	NM_000781.3(CYP11A1):c.707C>A (p.Ala236Asp)	CYP11A1 (A236D +1 more)	Single nucleotide variant (missense variant)	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	GUncertain significance
Select item 3061413	NM_000781.3(CYP11A1):c.309C>A (p.Asp103Glu)	CYP11A1 (D103E)	Single nucleotide variant (missense variant +1 more)	CYP11A1-related disorder	GUncertain significance
Select item 3038679	NM_000781.3(CYP11A1):c.1237-10del	CYP11A1	Deletion (intron variant)	CYP11A1-related disorder	GLikely benign
Select item 3022221	NM_000781.3(CYP11A1):c.1017G>A (p.Leu339=)	CYP11A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3022193	NM_000781.3(CYP11A1):c.1237-16G>C	CYP11A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3021934	NM_000781.3(CYP11A1):c.1257C>T (p.Ile419=)	CYP11A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016875	NM_000781.3(CYP11A1):c.123C>T (p.Ser41=)	CYP11A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3013302	NM_000781.3(CYP11A1):c.1425C>T (p.Phe475=)	CYP11A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011503	NM_000781.3(CYP11A1):c.991-6C>T	CYP11A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3011324	NM_000781.3(CYP11A1):c.1157+11A>T	CYP11A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009017	NM_000781.3(CYP11A1):c.759C>T (p.Asp253=)	CYP11A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008655	NM_000781.3(CYP11A1):c.393G>A (p.Gln131=)	CYP11A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3006955	NM_000781.3(CYP11A1):c.626-19C>A	CYP11A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005402	NM_000781.3(CYP11A1):c.270-10del	CYP11A1	Deletion (intron variant)	not provided	GLikely benign
Select item 2997847	NM_000781.3(CYP11A1):c.830-14C>T	CYP11A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996107	NM_000781.3(CYP11A1):c.894C>T (p.Tyr298=)	CYP11A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993790	NM_000781.3(CYP11A1):c.1464A>G (p.Gln488=)	CYP11A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991764	NM_000781.3(CYP11A1):c.984G>A (p.Val328=)	CYP11A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990790	NM_000781.3(CYP11A1):c.1435-16C>A	CYP11A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990216	NM_000781.3(CYP11A1):c.1338C>T (p.Asn446=)	CYP11A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990213	NM_000781.3(CYP11A1):c.1155A>C (p.Leu385=)	CYP11A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989784	NM_000781.3(CYP11A1):c.690C>T (p.Ala230=)	CYP11A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985424	NM_000781.3(CYP11A1):c.1119G>T (p.Leu373=)	CYP11A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2982482	NM_000781.3(CYP11A1):c.453G>A (p.Arg151=)	CYP11A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2981890	NM_000781.3(CYP11A1):c.450C>T (p.Asp150=)	CYP11A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2981470	NM_000781.3(CYP11A1):c.432G>A (p.Ser144=)	CYP11A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2979637	NM_000781.3(CYP11A1):c.888C>T (p.His296=)	CYP11A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2979589	NM_000781.3(CYP11A1):c.255T>C (p.Tyr85=)	CYP11A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2979120	NM_000781.3(CYP11A1):c.426-12A>G	CYP11A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977172	NM_000781.3(CYP11A1):c.1401C>T (p.Ile467=)	CYP11A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977032	NM_000781.3(CYP11A1):c.1435-16C>T	CYP11A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976302	NM_000781.3(CYP11A1):c.798T>C (p.His266=)	CYP11A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976023	NM_000781.3(CYP11A1):c.1107G>A (p.Thr369=)	CYP11A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975567	NM_000781.3(CYP11A1):c.1434+15G>A	CYP11A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975501	NM_000781.3(CYP11A1):c.270-16dup	CYP11A1	Duplication (intron variant)	not provided	GLikely benign
Select item 2975290	NM_000781.3(CYP11A1):c.1240C>T (p.Leu414=)	CYP11A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974990	NM_000781.3(CYP11A1):c.372G>A (p.Pro124=)	CYP11A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2973187	NM_000781.3(CYP11A1):c.625+9del	CYP11A1	Deletion (intron variant)	not provided	GBenign
Select item 2972369	NM_000781.3(CYP11A1):c.270-11C>T	CYP11A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972035	NM_000781.3(CYP11A1):c.990+20G>A	CYP11A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972027	NM_000781.3(CYP11A1):c.585G>A (p.Ser195=)	CYP11A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2971225	NM_000781.3(CYP11A1):c.1377G>A (p.Val459=)	CYP11A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2970901	NM_000781.3(CYP11A1):c.1158-19G>A	CYP11A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969788	NM_000781.3(CYP11A1):c.269+11C>T	CYP11A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2968794	NM_000781.3(CYP11A1):c.306C>T (p.Ile102=)	CYP11A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2967591	NM_000781.3(CYP11A1):c.270-20C>T	CYP11A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966117	NM_000781.3(CYP11A1):c.269+9G>A	CYP11A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965964	NM_000781.3(CYP11A1):c.906C>T (p.Leu302=)	CYP11A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2965083	NM_000781.3(CYP11A1):c.830-7C>T	CYP11A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963465	NM_000781.3(CYP11A1):c.540T>C (p.Ser180=)	CYP11A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2963403	NM_000781.3(CYP11A1):c.990+19C>T	CYP11A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963305	NM_000781.3(CYP11A1):c.636C>T (p.Asn212=)	CYP11A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2962664	NM_000781.3(CYP11A1):c.270-11C>G	CYP11A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961189	NM_000781.3(CYP11A1):c.626-14T>C	CYP11A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959948	NM_000781.3(CYP11A1):c.991-16C>A	CYP11A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959937	NM_000781.3(CYP11A1):c.1077G>A (p.Ala359=)	CYP11A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2958469	NM_000781.3(CYP11A1):c.189C>T (p.Tyr63=)	CYP11A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2958161	NM_000781.3(CYP11A1):c.425+11G>A	CYP11A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958023	NM_000781.3(CYP11A1):c.153C>A (p.Ile51=)	CYP11A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2957988	NM_000781.3(CYP11A1):c.237C>T (p.Val79=)	CYP11A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2957951	NM_000781.3(CYP11A1):c.1157+16C>A	CYP11A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957837	NM_000781.3(CYP11A1):c.991-8C>T	CYP11A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957734	NM_000781.3(CYP11A1):c.27C>G (p.Arg9=)	CYP11A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2920492	NM_000781.3(CYP11A1):c.930G>A (p.Lys310=)	CYP11A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2919733	NM_000781.3(CYP11A1):c.726C>T (p.His242=)	CYP11A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2919707	NM_000781.3(CYP11A1):c.471G>A (p.Glu157=)	CYP11A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2915494	NM_000781.3(CYP11A1):c.1378C>T (p.Arg460Trp)	CYP11A1 (R460W +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2906431	NM_000781.3(CYP11A1):c.957C>T (p.Asn319=)	CYP11A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2905421	NM_000781.3(CYP11A1):c.1518C>T (p.Pro506=)	CYP11A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2903674	NM_000781.3(CYP11A1):c.991-4C>T	CYP11A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2900820	NM_000781.3(CYP11A1):c.687G>A (p.Glu229=)	CYP11A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2900608	NM_000781.3(CYP11A1):c.630C>T (p.Ile210=)	CYP11A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2899568	NM_000781.3(CYP11A1):c.1332C>T (p.Asp444=)	CYP11A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2898562	NM_000781.3(CYP11A1):c.1395G>A (p.Arg465=)	CYP11A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2898048	NM_000781.3(CYP11A1):c.285C>T (p.Asn95=)	CYP11A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2895925	NM_000781.3(CYP11A1):c.813C>T (p.Asp271=)	CYP11A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2895190	NM_000781.3(CYP11A1):c.1122C>T (p.Val374=)	CYP11A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2893999	NM_000781.3(CYP11A1):c.990+8G>A	CYP11A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2889441	NM_000781.3(CYP11A1):c.207G>A (p.Thr69=)	CYP11A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2888879	NM_000781.3(CYP11A1):c.105C>T (p.Gly35=)	CYP11A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2888346	NM_000781.3(CYP11A1):c.1393C>T (p.Arg465Trp)	CYP11A1 (R465W +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2888025	NM_000781.3(CYP11A1):c.1323G>A (p.Leu441=)	CYP11A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2887346	NM_000781.3(CYP11A1):c.1275G>A (p.Glu425=)	CYP11A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2886939	NM_000781.3(CYP11A1):c.1237-6C>T	CYP11A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2886034	NM_000781.3(CYP11A1):c.279C>T (p.Leu93=)	CYP11A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2886033	NM_000781.3(CYP11A1):c.381C>T (p.Val127=)	CYP11A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2885479	NM_000781.3(CYP11A1):c.1296G>A (p.Pro432=)	CYP11A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2884519	NM_000781.3(CYP11A1):c.555C>T (p.Arg185=)	CYP11A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881904	NM_000781.3(CYP11A1):c.1434+14G>C	CYP11A1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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