CYP11A1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 153193	GRCh38/hg38 15q23-25.1(chr15:70025300-78705993)x1	ACSBG1, ADPGK +487 more	Copy number loss	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 more	Copy number gain	See cases	GPathogenic
Select item 58078	GRCh38/hg38 15q24.1-24.2(chr15:72629028-75242989)x3	ADPGK, ADPGK-AS1 +204 more	Copy number gain	See cases	GPathogenic
Select item 545182	Single allele	LOC130057525, LOC130057526 +205 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 154681	GRCh38/hg38 15q24.1-24.2(chr15:72671629-75242989)x1	LOC130057584, LOC130057585 +202 more	Copy number loss	See cases	GPathogenic
Select item 148272	GRCh38/hg38 15q24.1-24.2(chr15:72671629-75199803)x1	ADPGK, ADPGK-AS1 +195 more	Copy number loss	See cases	GLikely pathogenic
Select item 57428	GRCh38/hg38 15q24.1-24.2(chr15:72671629-75662276)x1	ADPGK, ADPGK-AS1 +236 more	Copy number loss	See cases	GPathogenic
Select item 153074	GRCh38/hg38 15q24.1-24.2(chr15:72685231-75727625)x1	LOC130057567, LOC130057568 +243 more	Copy number loss	See cases	GPathogenic
Select item 545183	Single allele	MIR6882, MPI +258 more	Duplication	Schizophrenia	GLikely pathogenic
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 2849372	NM_000781.3(CYP11A1):c.1554A>G (p.Ala518=)	CYP11A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2817693	NM_000781.3(CYP11A1):c.1542T>C (p.Phe514=)	CYP11A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2758789	NM_000781.3(CYP11A1):c.1539C>A (p.Pro513=)	CYP11A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2838208	NM_000781.3(CYP11A1):c.1533C>T (p.Phe511=)	CYP11A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2286168	NM_000781.3(CYP11A1):c.1519A>G (p.Ile507Val)	CYP11A1 (I349V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2905421	NM_000781.3(CYP11A1):c.1518C>T (p.Pro506=)	CYP11A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1413853	NM_000781.3(CYP11A1):c.1511A>C (p.Glu504Ala)	CYP11A1 (E346A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2798597	NM_000781.3(CYP11A1):c.1494C>T (p.Asn498=)	CYP11A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2822104	NM_000781.3(CYP11A1):c.1473C>T (p.Ser491=)	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 1895664	NM_000781.3(CYP11A1):c.1461C>A (p.Ile487=)	CYP11A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2877896	NM_000781.3(CYP11A1):c.1455T>C (p.Val485=)	CYP11A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2752501	NM_000781.3(CYP11A1):c.1435-10C>G	CYP11A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2804781	NM_000781.3(CYP11A1):c.1435-15A>G	CYP11A1	Single nucleotide variant (intron 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 2977032	NM_000781.3(CYP11A1):c.1435-16C>T	CYP11A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1295294	NM_000781.3(CYP11A1):c.1435-179A>G	CYP11A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2808788	NM_000781.3(CYP11A1):c.1434+19A>G	CYP11A1	Single nucleotide variant (intron 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 2881904	NM_000781.3(CYP11A1):c.1434+14G>C	CYP11A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2835861	NM_000781.3(CYP11A1):c.1431C>T (p.Ile477=)	CYP11A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2768397	NM_000781.3(CYP11A1):c.1428C>T (p.Leu476=)	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 2770076	NM_000781.3(CYP11A1):c.1419C>T (p.Thr473=)	CYP11A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2779756	NM_000781.3(CYP11A1):c.1408C>T (p.Leu470=)	CYP11A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2146209	NM_000781.3(CYP11A1):c.1402G>A (p.Ala468Thr)	CYP11A1 (A468T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2977172	NM_000781.3(CYP11A1):c.1401C>T (p.Ile467=)	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 2888346	NM_000781.3(CYP11A1):c.1393C>T (p.Arg465Trp)	CYP11A1 (R465W +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2782564	NM_000781.3(CYP11A1):c.1379G>A (p.Arg460Gln)	CYP11A1 (R302Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 2971225	NM_000781.3(CYP11A1):c.1377G>A (p.Val459=)	CYP11A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2808465	NM_000781.3(CYP11A1):c.1350C>T (p.Phe450=)	CYP11A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2854093	NM_000781.3(CYP11A1):c.1347C>T (p.Tyr449=)	CYP11A1	Single nucleotide variant (synonymous 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 2258286	NM_000781.3(CYP11A1):c.1336A>G (p.Asn446Asp)	CYP11A1 (N288D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2177126	NM_000781.3(CYP11A1):c.1335G>A (p.Lys445=)	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 2888025	NM_000781.3(CYP11A1):c.1323G>A (p.Leu441=)	CYP11A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2830967	NM_000781.3(CYP11A1):c.1314C>T (p.Thr438=)	CYP11A1	Single nucleotide variant (synonymous variant)	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 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 2887346	NM_000781.3(CYP11A1):c.1275G>A (p.Glu425=)	CYP11A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1804587	NM_000781.3(CYP11A1):c.1270C>T (p.Arg424Ter)	CYP11A1 (R266* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2877213	NM_000781.3(CYP11A1):c.1269C>T (p.Gly423=)	CYP11A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2827669	NM_000781.3(CYP11A1):c.1266G>C (p.Leu422=)	CYP11A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3021934	NM_000781.3(CYP11A1):c.1257C>T (p.Ile419=)	CYP11A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 2975290	NM_000781.3(CYP11A1):c.1240C>T (p.Leu414=)	CYP11A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2879703	NM_000781.3(CYP11A1):c.1239A>C (p.Thr413=)	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 3038679	NM_000781.3(CYP11A1):c.1237-10del	CYP11A1	Deletion (intron variant)	CYP11A1-related disorder	GLikely benign
Select item 3022193	NM_000781.3(CYP11A1):c.1237-16G>C	CYP11A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2864347	NM_000781.3(CYP11A1):c.1236+18G>T	CYP11A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2838772	NM_000781.3(CYP11A1):c.1236+15C>G	CYP11A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2864018	NM_000781.3(CYP11A1):c.1236+9A>G	CYP11A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2836716	NM_000781.3(CYP11A1):c.1236+8C>T	CYP11A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2786381	NM_000781.3(CYP11A1):c.1233C>T (p.Ala411=)	CYP11A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2866305	NM_000781.3(CYP11A1):c.1195G>T (p.Val399Leu)	CYP11A1 (V241L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2827662	NM_000781.3(CYP11A1):c.1170C>T (p.Ile390=)	CYP11A1	Single nucleotide variant (synonymous variant)	not provided	GLikely 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 317124	NM_000781.3(CYP11A1):c.1164C>T (p.His388=)	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 745299	NM_000781.3(CYP11A1):c.1158-4G>A	CYP11A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 735655	NM_000781.3(CYP11A1):c.1158-5C>T	CYP11A1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 2034940	NM_000781.3(CYP11A1):c.1158-6C>T	CYP11A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2781569	NM_000781.3(CYP11A1):c.1158-8T>C	CYP11A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2877215	NM_000781.3(CYP11A1):c.1158-12C>T	CYP11A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2779677	NM_000781.3(CYP11A1):c.1158-13C>T	CYP11A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2823955	NM_000781.3(CYP11A1):c.1158-14C>T	CYP11A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2862660	NM_000781.3(CYP11A1):c.1158-15G>A	CYP11A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2791661	NM_000781.3(CYP11A1):c.1158-17G>A	CYP11A1	Single nucleotide variant (intron 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 2696812	NM_000781.3(CYP11A1):c.1157+19A>G	CYP11A1	Single nucleotide variant (intron 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 2781352	NM_000781.3(CYP11A1):c.1157+15A>G	CYP11A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2846250	NM_000781.3(CYP11A1):c.1157+13C>A	CYP11A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2814772	NM_000781.3(CYP11A1):c.1157+12A>G	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 2772676	NM_000781.3(CYP11A1):c.1157+9A>G	CYP11A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2699791	NM_000781.3(CYP11A1):c.1157+7C>T	CYP11A1	Single nucleotide variant (intron 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 2801784	NM_000781.3(CYP11A1):c.1153C>T (p.Leu385=)	CYP11A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2751513	NM_000781.3(CYP11A1):c.1149G>A (p.Glu383=)	CYP11A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2864775	NM_000781.3(CYP11A1):c.1126del (p.Leu376fs)	CYP11A1 (L376fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic

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